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Acquired perforating dermatosis
Other namesAcquired perforating collagenosis
SpecialtyDermatology
Acquired perforating dermatosis is clinically and histopathologically similar to perforating folliculitis, also associated with chronic kidney failure, with or without hemodialysis or peritoneal dialysis, and/or diabetes mellitus, but not identical to Kyrle disease.[1][2]:1462
## See also[edit]
* Cutaneous perforating disorders
## References[edit]
1. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). Page 540. McGraw-Hill. ISBN 0-07-138076-0.
2. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
* v
* t
* e
Cutaneous keratosis, ulcer, atrophy, and necrobiosis
Epidermal thickening
* keratoderma: Keratoderma climactericum
* Paraneoplastic keratoderma
* Acrokeratosis paraneoplastica of Bazex
* Aquagenic keratoderma
* Drug-induced keratoderma
* psoriasis
* Keratoderma blennorrhagicum
* keratosis: Seborrheic keratosis
* Clonal seborrheic keratosis
* Common seborrheic keratosis
* Irritated seborrheic keratosis
* Seborrheic keratosis with squamous atypia
* Reticulated seborrheic keratosis
* Dermatosis papulosa nigra
* Keratosis punctata of the palmar creases
* other hyperkeratosis: Acanthosis nigricans
* Confluent and reticulated papillomatosis
* Callus
* Ichthyosis acquisita
* Arsenical keratosis
* Chronic scar keratosis
* Hyperkeratosis lenticularis perstans
* Hydrocarbon keratosis
* Hyperkeratosis of the nipple and areola
* Inverted follicular keratosis
* Lichenoid keratosis
* Multiple minute digitate hyperkeratosis
* PUVA keratosis
* Reactional keratosis
* Stucco keratosis
* Thermal keratosis
* Viral keratosis
* Warty dyskeratoma
* Waxy keratosis of childhood
* other hypertrophy: Keloid
* Hypertrophic scar
* Cutis verticis gyrata
Necrobiosis/granuloma
Necrobiotic/palisading
* Granuloma annulare
* Perforating
* Generalized
* Subcutaneous
* Granuloma annulare in HIV disease
* Localized granuloma annulare
* Patch-type granuloma annulare
* Necrobiosis lipoidica
* Annular elastolytic giant-cell granuloma
* Granuloma multiforme
* Necrobiotic xanthogranuloma
* Palisaded neutrophilic and granulomatous dermatitis
* Rheumatoid nodulosis
* Interstitial granulomatous dermatitis/Interstitial granulomatous drug reaction
Foreign body granuloma
* Beryllium granuloma
* Mercury granuloma
* Silica granuloma
* Silicone granuloma
* Zirconium granuloma
* Soot tattoo
* Tattoo
* Carbon stain
Other/ungrouped
* eosinophilic dermatosis
* Granuloma faciale
Dermis/
localized CTD
Cutaneous lupus
erythematosus
* chronic: Discoid
* Panniculitis
* subacute: Neonatal
* ungrouped: Chilblain
* Lupus erythematosus–lichen planus overlap syndrome
* Tumid
* Verrucous
* Rowell's syndrome
Scleroderma/
Morphea
* Localized scleroderma
* Localized morphea
* Morphea–lichen sclerosus et atrophicus overlap
* Generalized morphea
* Atrophoderma of Pasini and Pierini
* Pansclerotic morphea
* Morphea profunda
* Linear scleroderma
Atrophic/
atrophoderma
* Lichen sclerosus
* Anetoderma
* Schweninger–Buzzi anetoderma
* Jadassohn–Pellizzari anetoderma
* Atrophoderma of Pasini and Pierini
* Acrodermatitis chronica atrophicans
* Semicircular lipoatrophy
* Follicular atrophoderma
* Linear atrophoderma of Moulin
Perforating
* Kyrle disease
* Reactive perforating collagenosis
* Elastosis perforans serpiginosa
* Perforating folliculitis
* Acquired perforating dermatosis
Skin ulcer
* Pyoderma gangrenosum
Other
* Calcinosis cutis
* Sclerodactyly
* Poikiloderma vasculare atrophicans
* Ainhum/Pseudo-ainhum
This condition of the skin appendages article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Acquired perforating dermatosis | c1274760 | 30,600 | wikipedia | https://en.wikipedia.org/wiki/Acquired_perforating_dermatosis | 2021-01-18T19:09:17 | {"umls": ["C1274760"], "wikidata": ["Q1363662"]} |
Reticulohistiocytoma (RH) is a rare benign lesion of the soft tissue. It belongs to a group of disorders called non-Langerhans cell histiocytosis and is a type of reticulohistiocytosis, all of which are types of histiocytosis. Histiocytosis is a condition in which there is rapid production (proliferation) of histiocytes (immune cells) in the skin or soft tissues. The stimulus that causes the immune system to react in RH is currently not well understood. RH present as a yellow to reddish-brown smooth surfaced, firm nodule or lesion on the trunk and/or extremities of the body. Historically, RH has been found in young adults, with a slightly higher incidence in males. RH typically resolve spontaneously over a period of months to years, are not associated with systemic disease, and do not otherwise affect health. Treatment involves surgical removal of the lesion.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Reticulohistiocytoma | c0035290 | 30,601 | gard | https://rarediseases.info.nih.gov/diseases/12967/reticulohistiocytoma | 2021-01-18T17:57:57 | {"mesh": ["D015616"], "synonyms": ["Solitary reticulohistiocytosis", "Solitary histiocytoma"]} |
A rare autosomal recessive primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-related disorders (B-cell lymphoproliferative disorders including Hodgkin lymphoma) as well as dysgammaglobulinemia and recurrent infections. Patients can present with recurrent fever, lymphadenopathy, hepatosplenomegaly, Behçet-like stomatitis, pharyngitis, tonsillitis, adenitis, and viral encephalitis.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Combined immunodeficiency due to CD70 deficiency | None | 30,602 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=538958 | 2021-01-23T17:44:07 | {"omim": ["618261"], "icd-10": ["D81.1"], "synonyms": ["CID due to CD70 deficiency"]} |
Dislike or fear of Catholicism, hostility or prejudice towards Catholics
For observations made about the current or historic Catholic Church, see Criticism of the Catholic Church.
A famous 1876 editorial cartoon by Thomas Nast which portrays bishops as crocodiles who are attacking public schools, with the connivance of Irish Catholic politicians.
Freedom of religion
Concepts
* Religious discrimination
* Religious censorship
* Separation of church and state
* Anti-clericalism
* School prayer
* Catholic priests in public office
* Confessionalism
* Theocracy
* * *
* State religion
* Secular state
* Confessional state
* Atheist state
Status by country
Africa
* Algeria
* Angola
* Benin
* Botswana
* Burkina Faso
* Burundi
* Cameroon
* Cape Verde
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* Slovenia
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* Bahrain
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* Anti-Eastern Orthodox sentiment
* Anti-Oriental Orthodox sentiment
* Anti-Protestantism
* Falun Gong
* Hinduism (Hinduphobia)
* Islam
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Anti-Catholicism is hostility towards Catholics or opposition to the Catholic Church, its clergy, and/or its adherents.[1] At various points after the Reformation, some majority Protestant states, including England, Prussia, and Scotland made anti-Catholicism and opposition to the Pope and Catholic rituals major political themes, and the anti-Catholic sentiment which resulted from it frequently lead to religious discrimination against Catholic individuals (often derogatorily referred to in Anglophone Protestant countries as "papists" or "Romanists"). Historian John Wolffe identifies four types of anti-Catholicism: constitutional-national, theological, popular and socio-cultural.[2]
Historically, Catholics who lived in Protestant countries were frequently suspected of conspiring against the state in furtherance of papal interests. Support for the alien pope led to allegations that they lacked loyalty to the state. In majority Protestant countries with large scale immigration, such as the United States and Australia, suspicion of Catholic immigrants or discrimination against them often overlapped or was conflated with nativism, xenophobia, and ethnocentric or racist sentiments (i.e. anti-Italianism, anti-Irish sentiment, Hispanophobia, anti-French sentiment, anti-Quebec sentiment, anti-Polish sentiment).
In the Early modern period, the Catholic Church struggled to maintain its traditional religious and political role in the face of rising secular powers in Catholic countries. As a result of these struggles, a hostile attitude towards the considerable political, social, spiritual and religious power of the Pope and the clergy arose in the form of anti-clericalism. The Inquisition was a favorite target of attack. Anti-clerical forces gained strength after 1789 in some primarily Catholic nations, such as France, Spain and Mexico. Political parties formed that expressed a hostile attitude towards the considerable political, social, spiritual and religious power of the Catholic Church in the form of anti-clericalism, attacks on the power of the pope to name bishops, and international orders, especially the Jesuits.[3]
## Contents
* 1 In primarily Protestant countries
* 1.1 British Empire
* 1.1.1 Great Britain
* 1.1.1.1 Gordon Riots 1780
* 1.1.2 19th century
* 1.1.3 Since 1945
* 1.1.4 Ireland
* 1.1.4.1 Laws that restricted the rights of Irish Catholics
* 1.1.5 Northern Ireland
* 1.1.6 Canada
* 1.1.6.1 French language schools in Canada
* 1.1.6.2 Newfoundland
* 1.1.7 Australia
* 1.1.8 New Zealand
* 1.2 German Empire
* 1.2.1 Nazi Germany
* 1.3 Netherlands
* 1.4 Nordic countries
* 1.4.1 Norway
* 1.5 United States
* 1.5.1 Colonial era
* 1.5.2 New nation
* 1.5.3 1840s–1850s
* 1.5.4 20th and 21st centuries
* 2 In primarily Catholic countries
* 2.1 Argentina
* 2.2 Austria
* 2.2.1 Holy Roman Empire
* 2.2.2 Austro-Hungary
* 2.3 Brazil
* 2.4 Colombia
* 2.5 Cuba
* 2.6 France
* 2.7 Italy
* 2.8 Mexico
* 2.9 Poland
* 2.10 Spain
* 3 In mixed Catholic-Protestant countries
* 3.1 Switzerland
* 4 In primarily Orthodox countries
* 4.1 Byzantine Empire
* 4.2 Russian Empire
* 4.3 Former Yugoslavia
* 4.4 Ukraine
* 5 Non-Christian nations
* 5.1 Bangladesh
* 5.2 Burkina Faso
* 5.3 China
* 5.4 Japan
* 5.5 North Korea
* 5.6 Sri Lanka
* 5.6.1 Government actions
* 5.6.2 Anti-Catholic violence
* 5.7 Suppression of the Jesuits
* 6 In popular culture
* 7 See also
* 8 References
* 9 Further reading
* 10 External links
## In primarily Protestant countries[edit]
See also: Antichrist, Great Apostasy, Protestant Reformation, and History of Protestantism
From a series of woodcuts (1545) usually referred to as the Papstspotbilder or Papstspottbilder,[4] by Lucas Cranach, commissioned by Martin Luther.[5] "Kissing the Pope’s feet";[6] German peasants respond to a papal bull of Pope Paul III. Caption reads: "Don’t frighten us Pope, with your ban, and don’t be such a furious man. Otherwise we shall turn around and show you our rears".[7][8]
Passional Christi und Antichristi, by Lucas Cranach the Elder, from Luther's 1521 Passionary of the Christ and Antichrist. The Pope as the Antichrist, signing and selling indulgences.
Protestant Reformers, including John Wycliffe, Martin Luther, Henry VIII, John Calvin, Thomas Cranmer, John Thomas, John Knox, Roger Williams, Cotton Mather, and John Wesley, as well as most Protestants of the 16th-19th centuries, identified the Papacy with the Antichrist. The Centuriators of Magdeburg, a group of Lutheran scholars in Magdeburg headed by Matthias Flacius, wrote the 12-volume Magdeburg Centuries to discredit the Papacy and lead other Christians to recognize the Pope as the Antichrist. The fifth round of talks in the Lutheran–Catholic dialogue notes,
> In calling the pope the "Antichrist", the early Lutherans stood in a tradition that reached back into the eleventh century. Not only dissidents and heretics but even saints[citation needed] had called the bishop of Rome the "Antichrist" when they wished to castigate his abuse of power. What Lutherans incorrectly understood as a papal claim to unlimited authority over everything and everyone reminded them of the Apocalyptic imagery of Daniel 11, a passage that had been applied to the pope as the Antichrist of the last days even prior to the Reformation.[9]
Doctrinal works of literature published by the Lutherans, the Reformed churches, the Presbyterians, the Baptists, the Anabaptists, and the Methodists contain references to the Pope as the Antichrist, including the Smalcald Articles, Article 4 (1537),[10] the Treatise on the Power and Primacy of the Pope (1537),[11] the Westminster Confession, Article 25.6 (1646), and the 1689 Baptist Confession of Faith, Article 26.4. In 1754, John Wesley published his Explanatory Notes Upon the New Testament, which is currently an official Doctrinal Standard of the United Methodist Church. In his notes on the Book of Revelation (chapter 13), he commented: "The whole succession of Popes from Gregory VII are undoubtedly Antichrists. Yet this hinders not, but that the last Pope in this succession will be more eminently the Antichrist, the Man of Sin, adding to that of his predecessors a peculiar degree of wickedness from the bottomless pit."[12][13]
Referring to the Book of Revelation, Edward Gibbon stated that "The advantage of turning those mysterious prophecies against the See of Rome, inspired the Protestants with uncommon veneration for so useful an ally."[14] Protestants condemned the Catholic policy of mandatory celibacy for priests.[15]
During the Enlightenment Era, which spanned the 17th and 18th centuries, with its strong emphasis on the need for religious toleration, the Inquisition was a favorite target of attack for intellectuals.[16]
### British Empire[edit]
#### Great Britain[edit]
Main article: Anti-Catholicism in the United Kingdom
Foxe's Book of Martyrs glorified Protestant martyrs and shaped a lasting negative image of Catholicism in Britain.
Institutional anti-Catholicism in Britain and Ireland began with the English Reformation under Henry VIII. The Act of Supremacy of 1534 declared the English crown to be 'the only supreme head on earth of the Church in England' in place of the pope. Any act of allegiance to the latter was considered treasonous because the papacy claimed both spiritual and political power over its followers. It was under this act that saints Thomas More and John Fisher were executed and became martyrs to the Catholic faith.
Queen Mary, Henry's daughter, was a devout Catholic and during her five years as queen (1553–58) she tried to reverse the Reformation. She married the Catholic king of Spain and executed Protestant leaders. Protestants reviled her as "Bloody Mary".[17]
The Protestant Tutor (1713), by Benjamin Harris
Anti-Catholicism among many of the English was grounded in their fear that the pope sought to reimpose not just religio-spiritual authority over England but also secular power in alliance with their arch-enemy France or Spain. In 1570, Pope Pius V sought to depose Elizabeth with the papal bull Regnans in Excelsis, which declared her a heretic and purported to dissolve the duty of all Elizabeth's subjects of their allegiance to her. This rendered Elizabeth's subjects who persisted in their allegiance to the Catholic Church politically suspect, and made the position of her Catholic subjects largely untenable if they tried to maintain both allegiances at once. The Recusancy Acts, making it a legal obligation to worship in the Anglican faith, date from Elizabeth's reign.
Assassination plots in which Catholics were prime movers fueled anti-Catholicism in England. These included the famous Gunpowder Plot, in which Guy Fawkes and other conspirators plotted to blow up the English Parliament while it was in session.[18] The fictitious "Popish Plot" involving Titus Oates was a hoax that many Protestants believed to be true, exacerbating Anglican-Catholic relations.
The Glorious Revolution of 1688–1689 involved the overthrow of King James II, of the Stuart dynasty, who favoured the Catholics, and his replacement by a Dutch Protestant. For decades the Stuarts were supported by France in plots to invade and conquer Britain, and anti-Catholicism persisted.[19]
The Gordon Riots, by Charles Green
##### Gordon Riots 1780[edit]
Main article: Gordon Riots
The Gordon Riots of 1780 were a violent anti-Catholic protest in London against the Papists Act of 1778, which was intended to reduce official discrimination against British Catholics. Lord George Gordon, head of the Protestant Association warned that the law would enable Catholics in the British Army to become a dangerous threat. The protest evolved into riots and widespread looting. Local magistrates were afraid of reprisals and did not issue the riot act. There was no repression until the Army finally moved in and started shooting, killing hundreds of protesters. The main violence lasted from 2 June to 9 June 1780. Public opinion, especially in middle-class and elite circles, repudiated anti-Catholicism and lower-class violence, and rallied behind Lord North's government. Demands were made for a London police force.[20]
#### 19th century[edit]
The long bitter wars with France 1793–1815, saw anti-Catholicism emerge as the glue that held the three kingdoms together. From the upper classes to the lower classes, Protestants were brought together from England, Scotland and Ireland into a profound distrust and distaste for all things French. That enemy nation was depicted as the natural home of misery and oppression because of its inherent inability to shed the darkness of Catholic superstition and clerical manipulation.[21]
Catholics in Ireland got the vote in the 1790s but were politically inert for another three decades. Finally, they were mobilized by Daniel O'Connell into majorities in most of the Irish parliamentary districts. They could only elect, but Catholics could not be seated in parliament. The Catholic emancipation issue became a major crisis. Previously anti-Catholic politicians led by the Duke of Wellington and Robert Peel reversed themselves to prevent massive violence. All Catholics in Britain were "emancipated" in the Roman Catholic Relief Act 1829. That is, they were freed from most of the penalties and restrictions they faced. Anti-Catholic attitudes continued, however.[22]
#### Since 1945[edit]
Since World War II anti-Catholic feeling in England has abated somewhat. Ecumenical dialogue between Anglicans and Catholics culminated in the first meeting of an Archbishop of Canterbury with a Pope since the Reformation when Archbishop Geoffrey Fisher visited Rome in 1960. Since then, dialogue has continued through envoys and standing conferences. Meanwhile, both the nonconformist churches such as the Methodists, and the established Church of England, have dramatically declined in membership. Catholic membership in Britain continues to grow, thanks to the immigration of Irish and more recently Polish workers.[23]
Conflict and rivalry between Catholicism and Protestantism since the 1920s, and especially since the 1960s, has centred on the Troubles in Northern Ireland.[24]
Anti-Catholicism in Britain was long represented by the burning of an effigy of the Catholic conspirator Guy Fawkes at widespread celebrations on Guy Fawkes Night every 5 November.[25] However, this celebration has lost most of its anti-Catholic connotations. Only faint remnants of anti-Catholicism are found today.[26]
#### Ireland[edit]
As punishment for the rebellion of 1641, almost all lands owned by Irish Catholics were confiscated and given to Protestant settlers. Under the penal laws, no Irish Catholic could sit in the Parliament of Ireland, even though some 90% of Ireland's population was native Irish Catholic when the first of these bans was introduced in 1691.[27] Catholic / Protestant strife has been blamed for much of "The Troubles", the ongoing struggle in Northern Ireland.
The English Protestant rulers killed many thousands of Irish people (mostly Catholics) who refused to acknowledge the government and sought an alliance with Catholic France, England's great enemy. General Oliver Cromwell, England's military dictator (1653–58) launched a full-scale military attack on Catholics in Ireland, (1649–53). Frances Stewart explains: "Faced with the prospect of an Irish alliance with Charles II, Cromwell carried out a series of massacres in order to subdue the Irish. Then, once Cromwell had returned to England, the English Commissary, General Henry Ireton adopted a deliberate policy of crop burning and starvation, which was responsible for the majority of an estimated 600,000 deaths out of a total Irish population of 1,400,000."[28]
##### Laws that restricted the rights of Irish Catholics[edit]
The Great Famine of Ireland was due in part to Anti-Catholic laws. In the 17th and 18th centuries, Irish Catholics had been prohibited by the penal laws from purchasing or leasing land, from voting, from holding political office, from living in or within 5 miles (8 km) of a corporate town, from obtaining education, from entering a profession, and from doing many other things that were necessary for a person to succeed and prosper in society.[29] The laws had largely been reformed by 1793, and in 1829, Irish Catholics could again sit in parliament following the Act of Emancipation.
#### Northern Ireland[edit]
The state of Northern Ireland came into existence in 1921, following the Government of Ireland Act 1920. Though Catholics were a majority on the island of Ireland, comprising 73.8% of the population in 1911, they were a third of the population in Northern Ireland.
In 1934, Sir James Craig, the first Prime Minister of Northern Ireland, said, "Since we took up office we have tried to be absolutely fair towards all the citizens of Northern Ireland... They still boast of Southern Ireland being a Catholic State. All I boast of is that we are a Protestant Parliament and a Protestant State."
In 1957, Harry Midgley, the Minister of Education in Northern Ireland, said, in Portadown Orange Hall, "All the minority are traitors and have always been traitors to the Government of Northern Ireland."
The first Catholic to be appointed a minister in Northern Ireland was Dr Gerard Newe, in 1971.
#### Canada[edit]
Further information: Catholicism in Canada
Fears of the Catholic Church were quite strong in the 19th century, especially among Presbyterian and other Protestant Irish immigrants across Canada.[30]
In 1853, the Gavazzi Riots left 10 dead in Quebec in the wake of Catholic Irish protests against Anti-catholic speeches by ex-monk Alessandro Gavazzi.[31][32] The most influential newspaper in Canada, The Globe of Toronto, was edited by George Brown, a Presbyterian immigrant from Ireland who ridiculed and denounced the Catholic Church, Jesuits, priests, nunneries, etc.[33] Irish Protestants remained a political force until the 20th century. Many belonged to the Orange Order,[30] an anti-Catholic organization with chapters across Canada that was most powerful during the late 19th century.[34][35]
A key leader was Dalton McCarthy (1836–1898), a Protestant who had immigrated from Ireland. In the late 19th century he mobilized the "Orange" or Protestant Irish, and fiercely fought against Irish Catholics as well as the French Catholics. He especially crusaded for the abolition of the French language in Manitoba and Ontario schools.[36]
##### French language schools in Canada[edit]
One of the most controversial issues was public support for Catholic French-language schools. Although the Confederation Agreement of 1867 guaranteed the status of Catholic schools when legalized by provincial governments, disputes erupted in numerous provinces, especially in the Manitoba Schools Question in the 1890s and in Ontario in the 1910s.[37] In Ontario, Regulation 17 was a regulation by the Ontario Ministry of Education that restricted the use of French as a language of instruction to the first two years of schooling. French Canada reacted vehemently and lost, dooming its French-language Catholic schools. This was a central reason for French Canada's distance from the World War I effort, as its young men refused to enlist.[38]
Protestant elements succeeded in blocking the growth of French-language Catholic public schools. However, the Irish Catholics generally supported the English language position advocated by the Protestants.[39]
##### Newfoundland[edit]
Newfoundland long experienced social and political tensions between the large Irish Catholic working-class, on the one hand and the Anglican elite on the other.[40] In the 1850s, the Catholic bishop organized his flock and made them stalwarts of the Liberal party. Nasty rhetoric was the prevailing style elections; bloody riots were common during the 1861 election.[41] The Protestants narrowly elected Hugh Hoyles as the Conservative Prime Minister. Hoyles unexpectedly reversed his long record of militant Protestant activism and worked to defuse tensions. He shared patronage and power with the Catholics; all jobs and patronage were split between the various religious bodies on a per capita basis. This 'denominational compromise' was further extended to education when all religious schools were put on the basis which the Catholics had enjoyed since the 1840s. Alone in North America Newfoundland had a state funded system of denominational schools. The compromise worked and politics ceased to be about religion and became concerned with purely political and economic issues.[42]
#### Australia[edit]
The presence of Catholicism in Australia came with the 1788 arrival of the First Fleet of British convict ships at Sydney. The colonial authorities blocked a Catholic clerical presence until 1820, reflecting the legal disabilities of Catholics in Britain. Some of the Irish convicts had been transported to Australia for political crimes or social rebellion and authorities remained suspicious of the minority religion.[43]
Catholic convicts were compelled to attend Church of England services and their children and orphans were raised as Anglicans.[44] The first Catholic priests to arrive came as convicts following the Irish 1798 Rebellion. In 1803, one Fr Dixon was conditionally emancipated and permitted to celebrate Mass, but following the Irish led Castle Hill Rebellion of 1804, Dixon's permission was revoked. Fr Jeremiah Flynn, an Irish Cistercian, was appointed as Prefect Apostolic of New Holland and set out uninvited from Britain for the colony. Watched by authorities, Flynn secretly performed priestly duties before being arrested and deported to London. Reaction to the affair in Britain led to two further priests being allowed to travel to the colony in 1820.[43] The Church of England was disestablished in the Colony of New South Wales by the Church Act of 1836. Drafted by the Catholic attorney-general John Plunkett, the act established legal equality for Anglicans, Catholics and Presbyterians and was later extended to Methodists.[45]
By the late 19th century approximately a quarter of the population of Australia were Irish Australians.[46] Many were descended from the 40,000 Irish Catholics who were transported as convicts to Australia before 1867. The majority consisted of British and Irish Protestants.[citation needed] The Catholics dominated the labour unions and the Labor Party. The growth of school systems in the late 19th century typically involved religious issues, pitting Protestants against Catholics. The issue of independence for Ireland was long a sore point, until the matter was resolved by the Irish War of Independence.[47]
Limited freedom of belief is protected by Section 116 of the Constitution of Australia, but sectarianism in Australia was prominent (though generally nonviolent) in the 20th century, flaring during the First World War, again reflecting Ireland's place within the Empire, and the Catholic minority remained subject to discrimination and suspicion.[48] During the First World War, the Irish gave support for the war effort and comprised 20% of the army in France.[49] However, the labour unions and the Irish in particular, strongly opposed conscription, and in alliance with like-minded farmers, defeated it in national plebiscites in 1916 and 1917. The Anglicans in particular talked of Catholic "disloyalty".[50] By the 1920s, Australia had its first Catholic prime minister.[51]
During the 1950s, the split in the Australian Labor Party between allies and opponents of the Catholic anti-Communist B.A. Santamaria meant that the party (in Victoria and Queensland more than elsewhere) was effectively divided between pro-Catholic and anti-Catholic elements. As a result of such disunity the ALP was defeated at every single national election between 1955 and 1972. In the late 20th century, the Catholic Church replaced the Anglican Church as the largest single Christian body in Australia; and it continues to be so in the 21st century, although it still has fewer members than do the various Protestant churches combined.
While older sectarian divides declined, commentators have observed a re-emergence of anti-Catholicism in Australia in recent decades amid rising secularism and broader anti-Christian movements.[52][53][54][55]
#### New Zealand[edit]
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According to New Zealand scholar Michael King, the situation in New Zealand has never been as clear as it was in Australia. Catholics first arrived in New Zealand in 1769. The Church has had "a continuous presence there from the time of the permanent settlement by Irish Catholics in the 1820s, and the first conversions of Maori in the 1830s."[56] However the achievement of the English to gain Maori signatures to a "Treaty" in 1840, created a dominant Protestant country, though French Jean Baptiste Pompallier was able to include a clause about guaranteed freedom of religion in the text.[57] Some sectarian violence was evident in New Zealand in the late 19th century and early twentieth.
In the 21st century, Catholicism expresses itself as a left-wing social movement, which includes Jim Anderton; however, other children of established Catholic families have entered politics, where they tend to join right-wing individualist forces (Jim Bolger, Peter Dunne, Gerry Brownlee). King notes (p. 183) that Bolger (centre-right wing National Party) was the country's fourth Catholic Prime Minister. A previous Catholic Prime Minister was Michael Joseph Savage, who instigated numerous social reforms, evidence that since the 1930s, Catholics have been more at odds within their own ranks, than discriminated against in New Zealand society.
### German Empire[edit]
Main articles: Kulturkampf and History of the Catholic Church in Germany
Between Berlin and Rome, Bismarck (left) confronts Pope Pius IX, 1875
Unification into the German Empire in 1871 saw a country with a Protestant majority and large Catholic minority, speaking German or Polish. Anti-Catholicism was common.[58] The powerful German Chancellor Otto von Bismarck—a devout Lutheran—forged an alliance with secular liberals in 1871–1878 to launch a Kulturkampf (literally, "culture struggle") especially in Prussia, the largest state in the new German Empire to destroy the political power of the Catholic Church and the Pope. Catholics were numerous in the South (Bavaria, Baden-Wuerttemberg) and west (Rhineland) and fought back. Bismarck intended to end Catholics' loyalty with Rome (ultramontanism) and subordinate all Germans to the power of his state.
Priests and bishops who resisted the Kulturkampf were arrested or removed from their positions. By the height of anti-Catholic legislation, half of the Prussian bishops were in prison or in exile, a quarter of the parishes had no priest, half the monks and nuns had left Prussia, a third of the monasteries and convents were closed, 1800 parish priests were imprisoned or exiled, and thousands of laymen were imprisoned for helping the priests.[59] There were anti-Polish elements in Greater Poland Silesia.[60] The Catholics refused to comply; they strengthened their Centre Party.
Pius IX died in 1878 and was replaced by more conciliatory Pope Leo XIII who negotiated away most of the anti-Catholic laws beginning in 1880. Bismark himself broke with the anti-Catholic Liberals and worked with the Catholic Centre Party to fight Socialism.[61][62] Pope Leo officially declared the end of the Kulturkampf on 23 May 1887.
#### Nazi Germany[edit]
See also: Nazi views on Catholicism and Nazi persecution of the Catholic Church in Germany
The Catholic Church faced repression in Nazi Germany (1933-1945). Hitler despised the Church although he had been brought up in a Catholic home. The long-term aim of the Nazis was to de-Christianise Germany and restore Germanic paganism.[63][64][65][66][67][68][69][70][71] Richard J. Evans writes that Hitler believed that in the long run National Socialism and religion would not be able to co-exist, and he stressed repeatedly that Nazism was a secular ideology, founded on modern science: "Science, he declared, would easily destroy the last remaining vestiges of superstition". Germany could not tolerate the intervention of foreign influences such as the Pope and "Priests, he said, were 'black bugs', 'abortions in black cassocks'".[72] Nazi ideology desired the subordination of the Church to the State and could not accept an autonomous establishment, whose legitimacy did not spring from the government.[73] From the beginning, the Catholic Church faced general persecution, regimentation and oppression.[74] Aggressive anti-Church radicals like Joseph Goebbels and Martin Bormann saw the conflict with the Churches as a priority concern, and anti-Church and anti-clerical sentiments were strong among grassroots party activists.[75] To many Nazis, Catholics were suspected of insufficient patriotism, or even of disloyalty to the Fatherland, and of serving the interests of "sinister alien forces".[76]
Adolf Hitler had some regard for the organisational power of Catholicism, but towards its teachings he showed nothing but the sharpest hostility, calling them "the systematic cultivation of the human failure":[77] To Hitler, Christianity was a religion that was only fit for slaves and he detested its ethics. Alan Bullock wrote: "Its teaching, he declared, was a rebellion against the natural law of selection by struggle and the survival of the fittest". For political reasons, Hitler was prepared to restrain his anti-clericalism, seeing danger in strengthening the Church by persecuting it, but he intended to wage a show-down against it after the war.[78] Joseph Goebbels, the Minister for Propaganda, led the Nazi persecution of the Catholic clergy and wrote that there was "an insoluble opposition between the Christian and a heroic-German world view".[75] Hitler's chosen deputy, Martin Bormann, was a rigid guardian of Nazi orthodoxy and saw Christianity and Nazism as "incompatible", as did the official Nazi philosopher, Alfred Rosenberg, who wrote in Myth of the Twentieth Century (1930) that Catholics were among the chief enemies of the Germans.[79][80][81] In 1934, the Sanctum Officium put Rosenberg's book on the Index Librorum Prohibitorum (forbidden books list of the Church) for scorning and rejecting "all dogmas of the Catholic Church, indeed the very fundamentals of the Christian religion".[82]
The Nazis claimed jurisdiction over all collective and social activity, interfering with Catholic schooling, youth groups, workers' clubs and cultural societies.[83] Hitler moved quickly to eliminate Political Catholicism, rounding up members of the Catholic aligned Bavarian People's Party and Catholic Centre Party, which ceased to exist in early July 1933. Vice Chancellor Papen meanwhile, amid continuing molestation of Catholic clergy and organisations, negotiated a Reich concordat with the Holy See, which prohibited clergy from participating in politics.[84][85] Hitler then proceeded to close all Catholic institutions whose functions weren't strictly religious:[86]
> It quickly became clear that [Hitler] intended to imprison the Catholics, as it were, in their own churches. They could celebrate Mass and retain their rituals as much as they liked, but they could have nothing at all to do with German society otherwise. Catholic schools and newspapers were closed, and a propaganda campaign against the Catholics was launched.
>
> — Extract from An Honourable Defeat by Anton Gill
Almost immediately after agreeing the Concordat, the Nazis promulgated their sterilization law, an offensive policy in the eyes of the Catholic Church and moved to dissolve the Catholic Youth League. Clergy, nuns and lay leaders began to be targeted, leading to thousands of arrests over the ensuing years, often on trumped up charges of currency smuggling or "immorality".[87] In Hitler's Night of the Long Knives purge, Erich Klausener, the head of Catholic Action, was assassinated.[88] Adalbert Probst, national director of the Catholic Youth Sports Association, Fritz Gerlich, editor of Munich's Catholic weekly and Edgar Jung, one of the authors of the Marburg speech, were among the other Catholic opposition figures killed in the purge.[89]
By 1937, the Church hierarchy in Germany, which had initially attempted to co-operate with the new government, had become highly disillusioned. In March, Pope Pius XI issued the Mit brennender Sorge encyclical - accusing the Nazis of violations of the Concordat, and of sowing the "tares of suspicion, discord, hatred, calumny, of secret and open fundamental hostility to Christ and His Church". The Pope noted on the horizon the "threatening storm clouds" of religious wars of extermination over Germany.[87] The Nazis responded with, an intensification of the Church Struggle.[75] There were mass arrests of clergy and Church presses were expropriated.[90] Goebbels renewed the regime's crackdown and propaganda against Catholics. By 1939 all Catholic denominational schools had been disbanded or converted to public facilities.[91] By 1941, all Church press had been banned.
Later Catholic protests included the 22 March 1942 pastoral letter by the German bishops on "The Struggle against Christianity and the Church".[92] About 30 per cent of Catholic priests were disciplined by police during the Nazi era.[93] In effort to counter the strength and influence of spiritual resistance, the security services monitored Catholic clergy very closely - instructing that agents monitor every diocese, that the bishops' reports to the Vatican should be obtained and that bishops' activities be discovered and reported.[94] Priests were frequently denounced, arrested, or sent to concentration camps – many to the dedicated clergy barracks at Dachau. Of a total of 2,720 clergy imprisoned at Dachau, some 2,579 (or 94.88%) were Catholic.[95] Nazi policy towards the Church was at its most severe in the territories it annexed to Greater Germany, where the Nazis set about systematically dismantling the Church - arresting its leaders, exiling its clergymen, closing its churches, monasteries and convents. Many clergymen were murdered.[96][97][98]
### Netherlands[edit]
The independence of the Netherlands from Spanish rule saw a majority Protestant country of Calvinist nature. In Amsterdam Catholic priests were driven out of the city,[99] and Following the Dutch takeover, all churches were converted to Protestant worship,[100][101] Only in the 20th century was Amsterdam's relation to Catholicism normalised.[102]
### Nordic countries[edit]
#### Norway[edit]
After the dissolution of Denmark-Norway in 1814, the new Norwegian Constitution of 1814, did not grant religious freedom, as it stated that both Jews and Jesuits were denied entrance to the Kingdom of Norway. It also stated that attendance in a Lutheran church was compulsory, effectively banning Catholics. The ban on Catholicism was lifted in 1842, and the ban on Jews was lifted in 1851. At first, there were multiple restrictions on the practice of Catholicism and only foreign citizens were allowed to practice. The first post-reformation parish was founded in 1843, Catholics were only allowed to celebrate Mass in this one parish. In 1845 most restrictions on non-Lutheran Christianity were lifted, and Catholics were now allowed to practice their religion freely, but Monasticism and Jesuits were first allowed as late as 1897 and 1956 respectively.[103]
### United States[edit]
Main article: Anti-Catholicism in the United States
John Higham described anti-Catholicism as "the most luxuriant, tenacious tradition of paranoiac agitation in American history".[104]
* Jenkins, Philip. The New Anti-Catholicism: The Last Acceptable Prejudice (Oxford University Press, New ed. 2004). British anti-Catholicism was exported to the United States. Two types of anti-Catholic rhetoric existed in colonial society. The first, derived from the heritage of the Protestant Reformation and the religious wars of the sixteenth century, consisted of the "Anti-Christ" and the "Whore of Babylon" variety and it dominated Anti-Catholic thought until the late seventeenth century. The second was a more secular variety which focused on the supposed intrigue of the Catholics intent on extending medieval despotism worldwide.[105]
Historian Arthur Schlesinger Sr. has called Anti-Catholicism "the deepest-held bias in the history of the American people".[106]
Historian Joseph G. Mannard says that wars reduced anti-Catholicism: "enough Catholics supported the War for Independence to erase many old myths about the inherently treasonable nature of Catholicism....During the Civil War the heavy enlistments of Irish and Germans into the Union Army helped to dispel notions of immigrant and Catholic disloyalty."[105]
#### Colonial era[edit]
American anti-Catholicism has its origins in the Protestant Reformation which generated anti-Catholic propaganda for various political and dynastic reasons. Because the Protestant Reformation justified itself as an effort to correct what it perceived were the errors and the excesses of the Catholic Church, it formed strong positions against the Catholic bishops and the Papacy in particular. These positions were brought to New England by English colonists who were predominantly Puritans. They opposed not only the Catholic Church but also the Church of England which, due to its perpetuation of some Catholic doctrines and practices, was deemed insufficiently "reformed". Furthermore, English and Scottish identity to a large extent was based on opposition to Catholicism. "To be English was to be anti-Catholic," writes Robert Curran.[107]
Rev. Branford Clarke illustration in the Ku Klux Klan, Heroes of the Fiery Cross 1928 by Bishop Alma White Published by the Pillar of Fire Church in Zarephath, NJ
Branford Clarke illustration in The Ku Klux Klan in Prophecy 1925 by Bishop Alma White published by the Pillar of Fire Church in Zarephath, NJ
Because many of the British colonists, such as the Puritans and Congregationalists, were fleeing religious persecution by the Church of England, much of early American religious culture exhibited the more extreme anti-Catholic bias of these Protestant denominations. Monsignor John Tracy Ellis wrote that a "universal anti-Catholic bias was brought to Jamestown in 1607 and vigorously cultivated in all the thirteen colonies from Massachusetts to Georgia".[108] Colonial charters and laws often contained specific proscriptions against Catholics. For example, the second Massachusetts charter of October 7, 1691, decreed "that forever hereafter there shall be liberty of conscience allowed in the worship of God to all Christians, except Papists, inhabiting, or which shall inhabit or be resident within, such Province or Territory".[109] Historians have identified only one Catholic living in colonial Boston--Ann Glover. She was hanged as a witch in 1688, shortly before the much more famous witchcraft trials in nearby Salem.[110]
Monsignor Ellis noted that a common hatred of the Catholic Church could unite Anglican clerics and Puritan ministers despite their differences and conflicts. One of the Intolerable Acts passed by the British Parliament that helped fuel the American Revolution was the Quebec Act of 1774, which granted freedom of worship to Roman Catholics in Canada.[111]
#### New nation[edit]
The Patriot reliance on Catholic France for military, financial and diplomatic aid led to a sharp drop in anti-Catholic rhetoric. Indeed, the king replaced the pope as the demon patriots had to fight against. Anti-Catholicism remained strong among Loyalists, some of whom went to Canada after the war while most remained in the new nation. By the 1780s, Catholics were extended legal toleration in all of the New England states that previously had been so hostile. "In the midst of war and crisis, New Englanders gave up not only their allegiance to Britain but one of their most dearly held prejudices."[112]
George Washington was a vigorous promoter of tolerance for all religious denominations as commander of the army (1775-1783) where he suppressed anti-Catholic celebrations in the Army and appealed to French Catholics in Canada to join the American Revolution; a few hundred of them did. Likewise he guaranteed a high degree of freedom of religion as president (1789-1797), when he often attended services of different denominations.[113] The military alliance with Catholic France in 1778 changed attitudes radically in Boston. Local leaders enthusiastically welcomed French naval and military officers, realizing the alliance was critical to winning independence. The Catholic chaplain of the French army reported in 1781 that he was continually receiving "new civilities" from the best families in Boston; he also noted that "the people in general retain their own prejudices." By 1790, about 500 Catholics in Boston formed the first Catholic Church there.[114]
Fear of the pope agitated some of America's Founding Fathers. For example, in 1788, John Jay urged the New York Legislature to prohibit Catholics from holding office. The legislature refused, but did pass a law designed to reach the same goal by requiring all office-holders to renounce foreign authorities "in all matters ecclesiastical as well as civil".[115] Thomas Jefferson, looking at the Catholic Church in France, wrote, "History, I believe, furnishes no example of a priest-ridden people maintaining a free civil government",[116] and "In every country and in every age, the priest has been hostile to liberty. He is always in alliance with the despot, abetting his abuses in return for protection to his own."[117]
#### 1840s–1850s[edit]
Anti-Catholic fears reached a peak in the nineteenth century when the Protestant population became alarmed by the influx of Catholic immigrants. Some claimed that the Catholic Church was the Whore of Babylon described in the Book of Revelation.[118] The resulting "nativist" movement, which achieved prominence in the 1840s, was whipped into a frenzy of anti-Catholicism that led to mob violence, most notably the Philadelphia Nativist Riot of 1844. Historian David Montgomery argues that the Irish Catholic Democrats in Philadelphia had successfully appealed to the upper-class Whig leadership. The Whigs wanted to split the Democratic coalition, so they approved Bishop Kendrick's request that Catholic children be allowed to use their own Bible. That approval outraged the evangelical Protestant leadership, which rallied its support in Philadelphia and nationwide. Montgomery states:
The school controversy, however, had united 94 leading clergymen of the city in a common pledge to strengthen Protestant education and "awaken the attention of the community to the dangers which... threaten these United States from the assaults of Romanism." The American Tract Society took up the battle cry and launched a national crusade to save the nation from the "spiritual despotism" of Rome. The whole Protestant edifice of churches, Bible societies, temperance societies, and missionary agencies was thus interposed against Catholic electoral maneuvers ...at the very moment when those maneuvers were enjoying some success.[119]
The nativist movement found expression in a national political movement called the "American" or Know-Nothing Party of 1854–56. It had considerable success in local and state elections in 1854-55 by emphasizing nativism and warning against Catholics and immigrants. It nominated former president Millard Fillmore as its presidential candidate in the 1856 election. However, Fillmore was not anti-Catholic or nativist; his campaign concentrated almost entirely on national unity. Historian Tyler Anbinder says, "The American party had dropped nativism from its agenda." Fillmore won 22% of the national popular vote.[120]
In the Orange Riots in New York City in 1871 and 1872, Irish Catholics violently attacked Irish Protestants, who carried orange banners.[121]
Anti-Catholicism among American Jews further intensified in the 1850s during the international controversy over the Edgardo Mortara case, when a baptized Jewish boy in the Papal States was removed from his family and refused to return to them.[122]
After 1875 many states passed constitutional provisions, called "Blaine Amendments", forbidding tax money be used to fund parochial schools.[123][124] In 2002, the United States Supreme Court partially vitiated these amendments, when they ruled that vouchers were constitutional if tax dollars followed a child to a school even if the school were religious.[125]
A favorite rhetorical device in the 1870s was using the code words for Catholicism: “superstition, ambition and ignorance”.[126] President Ulysses Grant in a major speech to veterans in October 1875 warned that America again faced an enemy: religious schools. Grant saw another civil war in the "near future": it would not be between North and South, but will be between "patriotism and intelligence on the one side and superstition, ambition and ignorance on the other."[127] According to historian Charles W. Calhoun, "at various points in his life, Grant had bristled privately at what he considered religious communicants' thralldom to a domineering clergy, but he did not specifically mention Catholicism in his speech. Still, Catholic journals decried the president's seeming exploitation of religious bigotry."[128] In his December 1875 Annual Message to Congress, Grant urged taxation on "vast amounts of untaxed church property" which Professor John McGreevey says was "a transparently anti-Catholic measure since only the Catholic Church owned vast amounts of property – in schools, orphanages, and charitable institutions". Grant told Congress such legislation would protect American citizens from tyranny "whether directed by the demagogue or by priestcraft."[129]
#### 20th and 21st centuries[edit]
Among the kneeling Catholics are men marked K of C (Knights of Columbus) and Tammany (Tammany Hall), both politically powerful groups; illustrated by the Southern Mafia.
Guardians of Liberty 1943
Anti-Catholicism played a major role in the defeat of Al Smith, the Democratic nominee for president in 1928. Smith did very well in Catholic precincts, but he did poorly in the South, as well as among the Lutherans of the North. His candidacy was also hampered by his close ties with the notorious Tammany Hall political machine in New York City and his strong opposition to prohibition. His cause was uphill in any case, because he faced a popular Republican leadership in a year of peace and unprecedented prosperity.[130]
The adoption of the 18th Amendment in 1919, a culmination of a half-century of anti-liquor agitation, also fueled anti-Catholic sentiment. Prohibition enjoyed strong support among dry pietistic Protestants, and equally strong opposition by wet Catholics, Episcopalians, and German Lutherans. The drys focused their distrust on the Catholics who showed little popular support for the enforcement of prohibition laws, and when the Great Depression began in 1929, there was increasing sentiment that the government needed the tax revenue which the repeal of Prohibition would bring.[131]
Over 10 million Protestant soldiers who served in World War II came into close contact with Catholic soldiers; they got along well and, after the war, they played a central role in spreading a greater level of ethnic and religious tolerance for Catholics among other white Americans.[132] Although anti-Catholic sentiment declined in the U.S. in the 1960s, particularly after John F. Kennedy became the first Catholic U.S. president,[133] traces of it persist in both the media and popular culture.[134][example needed] Attacks on persons and property have also continued to occur. For instance, in 2018, an Indiana priest was assaulted by a man who said "This is for all the little kids,"[135] in an apparent reference to clerical sex abuse, the most prevalent form of modern day anti-Catholic sentiment. The summer of 2020 saw a wave of anti-Catholic acts which ranged from the vandalization of churches[136][137][138] and cathedrals;[139][140] to the destruction and often the decapitation of statues, particularly statues of St Junipero Serra,[141][142][143] Mary,[144][145] and Jesus;[146][147] Illinois,[148] and Florida.[149] Many of these acts are tied to other political movements, most notably Black Lives Matter and other protests such as those which have occurred in the aftermath of the death of George Floyd, and as a result, they are not always motivated by anti-Catholicism.
## In primarily Catholic countries[edit]
Anti-clericalism is a historical movement that opposes religious (generally Catholic) institutional power and influence in all aspects of public and political life, and the involvement of religion in the everyday life of the citizen. It suggests a more active and partisan role than mere laïcité. The goal of anticlericalism is sometimes to reduce religion to a purely private belief-system with no public profile or influence. However, many times it has included outright suppression of all aspects of faith.
Anticlericalism has at times been violent, leading to murders and the desecration, destruction and seizure of Church property. Anticlericalism in one form or another has existed throughout most of Christian history, and it is considered to be one of the major popular forces underlying the 16th century reformation. Some of the philosophers of the Enlightenment, including Voltaire, continually attacked the Catholic Church, both its leadership and its priests, claiming that many of its clergy were morally corrupt. These assaults in part led to the suppression of the Jesuits, and played a major part in the wholesale attacks on the very existence of the Church during the French Revolution in the Reign of Terror and the program of dechristianization. Similar attacks on the Church occurred in Mexico and Portugal since their 1910 revolutions and in Spain during the twentieth century.
### Argentina[edit]
In 1954, Argentina saw extensive destruction of churches, denunciations of clergy and confiscation of Catholic schools as Juan Perón attempted to extend state control over national institutions such as the Catholic Church in Argentina.[150]
### Austria[edit]
#### Holy Roman Empire[edit]
Joseph II, Holy Roman Emperor. Portrait by Carl von Sales.
Holy Roman Emperor Joseph II (emperor 1765-1790) opposed what he called "contemplative" religious institutions — reclusive Catholic institutions that he perceived as doing nothing positive for the community.[151] Although Joseph II was himself a Catholic, he also believed in firm state control of ecclesiastical matters outside of the strictly religious sphere and decreed that Austrian bishops could not communicate directly with the Roman Curia.[152] His policies are included in what is called Josephinism, that promoted the subjection of the Catholic Church in the Habsburg lands to service for the state.[153]
#### Austro-Hungary[edit]
Georg Ritter von Schönerer (17 July 1842 – 14 August 1921) was an Austrian landowner and politician of Austro-Hungary. He was a major opponent of political Catholicism and the founder of the movement Away from Rome!, aimed the conversion of all the Catholic German-speaking population of Austria to Lutheranism, or, in some cases, to the Old Catholic Churches.[154][155]
### Brazil[edit]
Cartoon alluding to the Religious Question crisis in Brazil
Brazil has the largest number of Catholics in the world,[156] and as such it has not experienced any large anti-Catholic movements.
During the Nineteenth Century, the Religious Question was the name given to the crisis when Freemasons in the Brazilian government imprisoned two Catholic bishops for enforcing the Church's prohibition against Freemasonry.
Even during times in which the Church was experiencing intense conservatism, such as the era of the Brazilian military dictatorship, anti-Catholicism was not advocated by the left-wing movements (instead, Liberation theology gained force). However, with the growing number of Protestants (especially Neo-Pentecostals) in the country, anti-Catholicism has gained strength. A pivotal moment during the rise of anti-Catholicism was the kicking of the saint episode in 1995. However, owing to the protests of the Catholic majority, the perpetrator was transferred to South Africa for the duration of the controversy.
During the COVID-19 pandemic in Brazil, Drug dealers took advantage of the pandemic to unite five slums in Rio de Janeiro imposing evangelical Protestantism on the area and attacking Catholics (and also members of Umbanda).[157][158]
### Colombia[edit]
Anti-Catholic and anti-clerical sentiments, some spurred by an anti-clerical conspiracy theory which was circulating in Colombia during the mid-twentieth century led to persecution of Catholics and killings, most specifically of the clergy, during the events known as La Violencia.[159]
### Cuba[edit]
Cuba, under the rule of atheist Fidel Castro, succeeded in reducing the ability of the Catholic Church to work by deporting one archbishop and 150 Spanish priests, by discriminating against Catholics in public life and education and by refusing to accept them as members of the Communist Party.[160] The subsequent flight of 300,000 Cubans from the island also helped to diminish the Church there.[160]
### France[edit]
The Michelade massacre by French Huguenots in 1567
During the French Revolution (1789–95) clergy and religious were persecuted and Church property was destroyed and confiscated by the new government as part of a process of Dechristianization, the aim of which was the destruction of Catholic practices and the destruction of the very faith itself, culminating with the imposition of the atheistic Cult of Reason followed by the imposition of the deistic Cult of the Supreme Being.[161] The persecution led Catholics who lived in the west of France to wage a counterrevolution, the War in the Vendée, and when the state was victorious, it killed tens of thousands of Catholics. A few historians have called it genocide.[162] However, most historians believe it was a brutal crackdown against political enemies rather than genocide.[163] The French invasions of Italy (1796–99) included an assault on Rome and the exile of Pope Pius VI in 1798.
Relations improved in 1802 when Napoleon came to terms with the Pope in the Concordat of 1801.[164] It allowed the Church to operate but did not give back the lands; it proved satisfactory for a century. By 1815 the Papacy supported the growing alliance against Napoleon, and was re-instated as the State Church during the conservative Bourbon Restoration of 1815–30. The brief French Revolution of 1848 again opposed the Church, but the Second French Empire (1851–71) gave it full support. The history of 1789–1871 had established two camps—the left against the Church and the right supporting it—that largely continued until the Vatican II process in 1962–65.[165]
France's Third Republic (1871–1940) was cemented by anti-clericalism, the desire to secularise the State and social life, faithful to the French Revolution.[166] This was the position of the radicals and socialists.[167] in 1902 Émile Combes became Minister of the Interior, and the main energy of the government was devoted to an anti-clerical agenda.[168] The parties of the Left, Socialists and Radicals, united upon this question in the Bloc republicain, supported Combes in his application of the law of 1901 on the religious associations, and voted the new bill on the congregations (1904). By 1904, through his efforts, nearly 10,000 religious schools had been closed and thousands of priests and nuns left France rather than be persecuted.[169] Under his guidance parliament moved toward the 1905 French law on the separation of Church and State, which ended the Napoleonic arrangement of 1801.[170]
In the Affaire Des Fiches, in France in 1904–1905, it was discovered that the militantly anticlerical War Minister under Combes, General Louis André, was determining promotions based on the French Masonic Grand Orient's huge card index on public officials, detailing which were Catholic and who attended Mass, with the goal of preventing their promotions. Exposure almost caused the government to fall; instead Combes retired.[171]
### Italy[edit]
Italian troops breaching the Aurelian Walls at Porta Pia during the Capture of Rome. Breccia di Porta Pia (1880), by Carlo Ademollo. Afterwards, the Pope declared himself a "Prisoner in the Vatican."
In the Napoleonic era, anti-clericalism was a powerful political force.[172] From 1860 through 1870, the new Italian government, under the House of Savoy, outlawed all religious orders, both male and female, including the Franciscans, the Dominicans and the Jesuits, closed down their monasteries and confiscated their property, and imprisoned or banished bishops who opposed this (see Kulturkampf).[173][174] Italy took over Rome in 1870 when it lost its French protection; the Pope declared himself a prisoner in the Vatican. Relations were finally normalized in 1929 with the Lateran Treaty.[175]
### Mexico[edit]
Following the Mexican Revolution of 1860, President Benito Juárez issued a decree nationalizing Church property, separating Church and State, and suppressing religious orders.
In the wake of the revolution of 1910, the new Mexican Constitution of 1917 contained further anti-clerical provisions. Article 3 called for secular education in the schools and prohibited the Church from engaging in primary education; Article 5 outlawed monastic orders; Article 24 forbade public worship outside the confines of churches; and Article 27 placed restrictions on the right of religious organizations to hold property. Article 130 deprived clergy members of basic political rights.
Mexican President Plutarco Elías Calles's enforcement of previous anti-Catholic legislation denying priests' rights, enacted as the Calles Law, prompted the Mexican Episcopate to suspend all Catholic worship in Mexico from August 1, 1926, and sparked the bloody Cristero War of 1926–1929 in which some 50,000 peasants took up arms against the government. Their slogan was "¡Viva Cristo Rey!" (Long live Christ the King!).
The effects of the war on the Church were profound. Between 1926 and 1934 at least 40 priests were killed.[176] Where there were 4,500 priests serving the people before the rebellion, in 1934 there were only 334 priests licensed by the government to serve fifteen million people, the rest having been eliminated by emigration, expulsion and assassination.[176][177] It appears that ten states were left without any priests.[177] Other sources indicate that the persecution was such that, by 1935, 17 states were left with no priests at all.[178]
Some of the Catholic casualties of this struggle are known as the Saints of the Cristero War.[176][179] Events relating to this were famously portrayed in the novel The Power and the Glory by Graham Greene.[180][181]
### Poland[edit]
Funeral of Jerzy Popiełuszko, a Catholic priest killed by Communist authorities
For the situation in Russian Poland, see Anticatholicism in Russian Empire
Catholicism in Poland, the religion of the vast majority of the population, was severely persecuted during World War II, following the Nazi invasion of the country and its subsequent annexation into Germany. Over 3 million Catholics of Polish descent were murdered during the Invasion of Poland, including 3 bishops, 52 priests, 26 monks, 3 seminarians, 8 nuns and 9 lay people, later beatified in 1999 by Pope John Paul II as the 108 Martyrs of World War II.[182]
The Roman Catholic Church was even more violently suppressed in Reichsgau Wartheland and the General Government.[183] Churches were closed, and clergy were deported, imprisoned, or killed,[183] among them was Maximilian Kolbe, a Pole of German descent. Between 1939 and 1945, 2,935 members[184] of the Polish clergy (18%[185]) were killed in concentration camps. In the city of Chełmno, for example, 48% of the Catholic clergy were killed.
Catholicism continued to be persecuted under the Communist regime from the 1950s. Contemporary Stalinist ideology claimed that the Church and religion in general were about to disintegrate. Initially, Archbishop Wyszyński entered into an agreement with the Communist authorities, which was signed on 14 February 1950 by the Polish episcopate and the government. The Agreement regulated the matters of the Church in Poland. However, in May of that year, the Sejm breached the Agreement by passing a law for the confiscation of Church property.
On 12 January 1953, Wyszyński was elevated to the rank of cardinal by Pius XII as another wave of persecution began in Poland. When the bishops voiced their opposition to state interference in ecclesiastical appointments, mass trials and the internment of priests began—the cardinal being one of its victims. On 25 September 1953 he was imprisoned at Grudziądz, and later placed under house arrest in monasteries in Prudnik near Opole and in Komańcza Monastery in the Bieszczady Mountains. He was released on 26 October 1956.
Pope John Paul II, who was born in Poland as Karol Wojtyla, often cited the persecution of Polish Catholics in his stance against Communism.
### Spain[edit]
Anti-clericalism in Spain at the start of the Spanish Civil War resulted in the killing of almost 7,000 clergy, the destruction of hundreds of churches and the persecution of lay people in Spain's Red Terror.[186] Hundreds of Martyrs of the Spanish Civil War have been beatified and hundreds more in October 2007.[187][188]
## In mixed Catholic-Protestant countries[edit]
### Switzerland[edit]
The Jesuits (Societas Jesu) were banned from all activities in either clerical or pedagogical functions by Article 51 of the Swiss constitution in 1848. The reason for the ban was the perceived threat to the stability of the state resulting from Jesuit advocacy of traditional Catholicism; it followed the Roman Catholic cantons forming an unconstitutional separate alliance leading to civil war. In June 1973, 54.9% of Swiss voters approved removing the ban on the Jesuits (as well as Article 52 which banned monasteries and convents from Switzerland) (See Kulturkampf and Religion in Switzerland)
## In primarily Orthodox countries[edit]
### Byzantine Empire[edit]
In the East–West Schism of 1054 the Eastern Orthodox Church and the Catholic Church broke their full communion with each other because of Ecclesiastical differences, Theological, and Liturgical disputes.[189]
In April 1182, the Eastern Orthodox population of the Byzantine Empire committed a large-scale massacre against the Catholic population of Constantinople,[190][191] this massacre is known as the Massacre of the Latins and it further worsened relations and increased enmity between Eastern Orthodoxy and Catholicism.[192]
### Russian Empire[edit]
Main articles: Pope Pius IX and Russia, Pope Pius X and Russia, and Pope Leo XIII and Russia
Expulsion of the Imperial Russian envoy Felix von Meyendorff to the Holy See by Pope Pius IX for insulting the Catholic faith
During Russian rule, Catholics, primarily Poles and Lithuanians, suffered great persecution not only because of their ethnic-national background, but also for religious reasons. Especially after the uprisings of 1831 and 1863, and within the process of Russification (understanding that there is a strong link between religion and nationality), the tsarist authorities were anxious to promote the conversion of these peoples to the official faith, intervening in public education in those regions (an Orthodox religious education was compulsory) and censoring the actions of the Catholic Church.[193] In particular, attention was focused on the public actions of the Church, such as masses or funerals, because they could serve as the focus of protests against the occupation. Many priests were imprisoned or deported because of their activities in defense of their religion and ethnicity. In the late nineteenth century, however, there was a progressive relaxation of the control of Catholic institutions by the Russian authorities.[194]
### Former Yugoslavia[edit]
See also: Chetnik war crimes in World War II
During World War II in Yugoslavia, the Chetniks killed an estimated 18,000-32,000 Croats.[195] About 300 villages and small towns were destroyed, along with a large number of mosques and Catholic churches.[196]
During the Yugoslav Wars in Croatia and Bosnia and Herzegovina, the ICTY determined that ethnic Croats were persecuted on political, racial and religious grounds, as part of a general campaign of killings and forced-removals of Croat civilians. The religious element of Serbian persecution of Catholic Croats was the deliberate destruction of religious buildings and monuments, including churches, chapels and even cemeteries.[197] It is estimated that some 200 Catholic churches were destroyed or severely damaged by Serb forces during the Croatian War of Independence,[198] while another 269 religious buildings were destroyed during the Bosnian War.[199]
### Ukraine[edit]
See also: History of Christianity in Ukraine and Religion in Ukraine
In the separatist region known as the Donetsk People's Republic, the government has declared that the Russian Orthodox Church of the Moscow Patriarchate is the state religion, and Protestant churches have been occupied by paramilitaries.[200] Jehovah's Witnesses have lost their property, and their Kingdom Halls have been occupied by rebels in the Donetsk and Luhansk regions.[201] Roman Catholic, Greek Catholic, Ukrainian Orthodox, and Protestant clergy have been kidnapped by groups such as the Russian Orthodox Army, and they have also been accused of opposing Russian Orthodox values.[202] Human Rights Watch says that the bodies of several members of the Church of the Transfiguration were found in a mass grave in 2014.[203]
## Non-Christian nations[edit]
### Bangladesh[edit]
Main articles: Persecution of Christians and Freedom of religion in Bangladesh
On 3 June 2001 nine people were killed by a bomb explosion at a Roman Catholic church in the Gopalganj District.[204]
### Burkina Faso[edit]
On May 12, 2019, six Catholics including a priest were killed by gunmen on motorcycles that stormed a church in Dablo during a Sunday morning mass.[205] A day later, on May 13, 2019, four people were killed and a statue of the Virgin Mary was destroyed by armed men in an attack on Catholic parishioners during a religious procession in the remote village of Zimtenga.[206]
### China[edit]
The Daoguang Emperor modified existing law making spreading Catholicism punishable by death.[207] During the Boxer Rebellion, Catholic missionaries and their families were murdered by Boxer rebels.[208] During the 1905 Tibetan Rebellion, Tibetan rebels murdered Catholics and Tibetan converts.[209]
Since the founding of the People's Republic of China, all religions including Catholicism only operate under state control.[210] However, there are Catholics who do not accept State rule over the Church and worship clandestinely.[211] There has been some rapprochement between the Chinese government and the Vatican.[212]
Claims of persecution of Chinese Christians occurred in both official and unsanctioned churches.[213] The Associated Press reported in 2018 that Chinese paramount leader Xi Jinping "is waging the most severe systematic suppression of Christianity in the country since religious freedom was written into the Chinese constitution in 1982.",[214] which has involved "destroying crosses, burning bibles, shutting churches and ordering followers to sign papers renouncing their faith".[215]
### Japan[edit]
On February 5, 1597 a group of twenty-six Catholics were killed on the orders of Toyotomi Hideyoshi.[216] During the Tokugawa Shogunate, Japanese Catholics were suppressed leading to an armed rebellion during the 1630s. After the rebellion was defeated, Catholicism was furthered suppressed and many went underground.[217][218] Catholicism was not openly restored to Japan until the 1850s.
### North Korea[edit]
See Roman Catholicism in North Korea
### Sri Lanka[edit]
#### Government actions[edit]
A Buddhist-influenced government took over 600 parish schools in 1960 without compensation and secularized them.[219] Attempts were made by future governments to restore some autonomy.
#### Anti-Catholic violence[edit]
Further information: Buddhism and violence § Sri Lanka, and 2019 Sri Lanka Easter bombings
Since 2000, in a context of rising violence against religious minorities, i.e. Christians, Muslims and Hindus, multiple attacks on Catholic churches occurred. For instance, in 2009, a mob of 1,000 smashed the interior of a church in the town of Crooswatta, assaulting parishioners with clubs, swords and stones, leaving several to be treated in hospital. In 2013, vandals smashed a statue of the Virgin Mary as well as a tabernacle, and they also tried to burn the Eucharist at a church in Angulana, near Colombo.[220]
The term "anti-Catholic Catholic" has come to be applied to Catholics who are perceived to view the Catholic Church with animosity. The term is often used by traditionalist or conservative Catholics to describe modernist or liberal Catholics, especially those modernist or liberal Catholics who seek to reform Church doctrine, make secularist critiques of the Catholic Church, or place secular principles above Church teachings.[221][222] Those who take issue with the Catholic theology of sexuality are especially prone to be given this label.[223]
### Suppression of the Jesuits[edit]
Main article: Suppression of the Society of Jesus
Prime Minister Pombal of Portugal was aggressively hostile to the Jesuit order because it reported to an Italian power—the Pope—and tried to operate independently of the government. He organized a full-scale war on the Jesuits both in Portugal and in much of Catholic Europe as well. The Jesuit order was suppressed in the Portuguese Empire (1759), France (1764), the Two Sicilies, Malta, Parma, the Spanish Empire (1767), and Austria and Hungary (1782). The Pope himself suppressed the order everywhere in 1773, but it survived in Russia and Prussia. The suppression was a major blow to Catholic education across Europe, with nearly 1000 secondary schools and seminaries shut down. Their lands, buildings, and endowments were confiscated; their teachers scattered. Although Jesuit education had become old fashioned in Poland and other areas, it was the main educational support network for Catholic intellectuals, senior clergy, and prominent families. Governments tried in vain to replace all those schools, but there were far too few non-clerical teachers who were suitable.[224]
The Jesuit order was restored by the pope in 1814 and flourished in terms of rebuilding schools and educational institutions but never regained its enormous power in the political realm.[225] The suppression of the Jesuits "was an unmitigated disaster for Catholicism." The political weakness of the once-powerful institution was on public display for ridicule and more bullying. The Church lost its best educational system, its best missionary system, and its most innovative thinkers. Intellectually, it would take two centuries for the Church to fully recover.[226]
## In popular culture[edit]
Main article: Anti-Catholicism in literature and media
Anti-Catholic stereotypes are a long-standing feature of English literature, popular fiction, and even pornography. Gothic fiction is particularly rich in this regard. Lustful priests, cruel abbesses, immured nuns, and sadistic inquisitors appear in such works as The Italian by Ann Radcliffe, The Monk by Matthew Lewis, Melmoth the Wanderer by Charles Maturin and "The Pit and the Pendulum" by Edgar Allan Poe.[227]
## See also[edit]
* Category:Critics of the Catholic Church
* Criticism of the Catholic Church
* Category:Anti-Christian sentiment
* Category:Anti-Christian sentiment in the United States
* Category:Critics of Christianity
* Criticism of Christianity
* AIDS Coalition to Unleash Power
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* Anti-clericalism
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* Anti-Croat sentiment
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* John Cornwell (writer)
* Count's Feud
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* Great Apostasy
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* Persecutions of the Catholic Church and Pius XII
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* Derogatory terms
* List of religious slurs#Catholics
* Mackerel Snapper
* Popery and Papism
* Recovering Catholic
* Institutionalized politics, within a country
* Amanda Marcotte
* American Protective Association, a group which existed in the U.S. during the 1890s
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## Further reading[edit]
* Anbinder, Tyler. Nativism and Slavery: The Northern Know Nothings and the Politics of the 1850s 1992; in U.S.
* Aston, Nigel (2002). Christianity and Revolutionary Europe, 1750-1830. Cambridge UP. ISBN 9780521465922.
* Bennett, David H. The Party of Fear: From Nativist Movements to the New Right in American History University of North Carolina Press, 1988
* Blanshard, Paul. American Freedom and Catholic Power Beacon Press, 1949; famous attack on Catholicism
* Brown, Thomas M. "The Image of the Beast: Anti-Papal Rhetoric in Colonial America", in Richard O. Curry and Thomas M. Brown, eds., Conspiracy: The Fear of Subversion in American History (1972), 1-20.
* Bruce, Steve. No Pope of Rome: Anti-Catholicism in Modern Scotland (Edinburgh, 1985).
* Clifton, Robin (1971). "Popular Fear of Catholics during the English Revolution". Past and Present. 52 (52): 23–55. doi:10.1093/past/52.1.23. JSTOR 650394.
* Cogliano, Francis D. No King, No Popery: Anti-Catholicism in Revolutionary New England Greenwood Press, 1995
* Cruz, Joel Morales. The Mexican Reformation: Catholic Pluralism, Enlightenment Religion, and the Iglesia de Jesus Movement in Benito Juarez's Mexico (1859-72) (Wipf and Stock Publishers, 2011).
* Davis, David Brion (1960). "Some Themes of Counter-subversion: An Analysis of Anti-Masonic, Anti-Catholic and Anti-Mormon Literature". Mississippi Valley Historical Review. 47 (2): 205–224. doi:10.2307/1891707. JSTOR 1891707.
* Drury, Marjule Anne (2001). "Anti-Catholicism in Germany, Britain, and the United States: A review and critique of recent scholarship". Church History. 70 (1): 98–131. doi:10.2307/3654412. JSTOR 3654412.
* Franklin, James (2006), "Freemasonry in Europe", Catholic Values and Australian Realities, Connor Court Publishing Pty Ltd, pp. 7–10, ISBN 9780975801543
* Greeley, Andrew M. An Ugly Little Secret: Anti-Catholicism in North America 1977.
* Henry, David. "Senator John F. Kennedy Encounters the Religious Question: I Am Not the Catholic Candidate for President." in Contemporary American Public Discourse Ed. H. R. Ryan. Prospect Heights, IL: Waveland Press, Inc., 1992. 177–193.
* Higham; John. Strangers in the Land: Patterns of American Nativism, 1860–1925 1955
* Hinckley, Ted C. (1962). "American Anti-Catholicism During the Mexican War". Pacific Historical Review. 31 (2): 121–137. doi:10.2307/3636570. JSTOR 3636570. S2CID 161327008.
* Hostetler; Michael J. "Gov. Al Smith Confronts the Catholic Question: The Rhetorical Legacy of the 1928 Campaign," Communication Quarterly (1998) 46#1 pp 12+.
* Jensen, Richard. The Winning of the Midwest: Social and Political Conflict, 1888–1896 (1971)
* Joskowicz, Ari. The Modernity of Others: Jewish Anti-Catholicism in Germany and France (Stanford University Press; 2013) 376 pages; how Jewish intellectuals defined themselves as modern against the anti-modern positions of the Catholic Church
* Latourette, Kenneth Scott. Christianity in a Revolutionary Age (5 vol 1969), covers 1790s to 1960; comprehensive global history
* Keating, Karl. Catholicism and Fundamentalism—The Attack on "Romanism" by "Bible Christians" (Ignatius Press, 1988). ISBN 978-0-89870-177-7
* Lehner, Ulrich and Michael Printy, eds. A Companion to the Catholic Enlightenment in Europe (2010)
* McGreevy, John T (1997). "Thinking on One's Own: Catholicism in the American Intellectual Imagination, 1928–1960". The Journal of American History. 84 (1): 97–131. doi:10.2307/2952736. JSTOR 2952736.
* Moore; Leonard J. Citizen Klansmen: The Ku Klux Klan in Indiana, 1921–1928 University of North Carolina Press, 1991
* Mourret, Fernand. History Of The Catholic Church (8 vol, 1931) comprehensive history to 1878. country by country. online free; by French Catholic priest; see vols. 6-7-8.
* Paz, D. G. (1979). "Popular Anti-Catholicism in England, 1850–1851". Albion. 11 (4): 331–359. doi:10.2307/4048544. JSTOR 4048544.
* Stark, Rodney (2016). Bearing False Witness: Debunking Centuries of Anti-Catholic History. Templeton Press. ISBN 978-1599474991.
* Thiemann, Ronald F. Religion in Public Life Georgetown University Press, 1996.
* Wiener, Carol Z. (1971). "The Beleaguered Isle. A Study of Elizabethan and Early Jacobean Anti-Catholicism". Past and Present. 51: 27–62. doi:10.1093/past/51.1.27.
* Wolffe, John (2013). "North Atlantic Anti-Catholicism in the Nineteenth Century: A Comparative Overview". European Studies: A Journal of European Culture, History and Politics. 31 (1): 25–41.
* Wolffe, John, ed., Protestant-Catholic Conflict from the Reformation to the Twenty-first Century (Palgrave Macmillan UK, 2013). Table of contents
* Wolffe, John. "A Comparative Historical Categorisation of Anti‐Catholicism." Journal of Religious History 39.2 (2015): 182–202. online free
## External links[edit]
Wikiquote has quotations related to: Anti-Catholicism
Wikimedia Commons has media related to Anti-Catholicism.
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*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
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*[CAN]: Canada
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*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
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*[a.k.a.]: also known as
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*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
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*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
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*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
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*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
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*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
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*[H1R]: H1 receptor
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| Anti-Catholicism | None | 30,603 | wikipedia | https://en.wikipedia.org/wiki/Anti-Catholicism | 2021-01-18T19:03:18 | {"wikidata": ["Q1063123"]} |
Medical condition leading to loss of voice
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed.
Find sources: "Aphonia" – news · newspapers · books · scholar · JSTOR (November 2017)
Aphonia
SpecialtyPsychiatry, neurology
Aphonia is defined as the inability to produce voiced sound.[1] Damage to the nerve may be the result of surgery (e.g., thyroidectomy) or a tumor.[2]
Aphonia means "no sound". In other words, a person with this disorder has lost their voice.[3]
## Contents
* 1 Causes
* 1.1 Psychogenic
* 2 See also
* 3 References
* 4 External links
## Causes[edit]
Injuries are often the cause of aphonia [4][citation needed]. Minor injuries can affect the second and third dorsal area in such a manner that the lymph patches concerned with coordination become either atrophic or relatively nonfunctioning. Tracheotomy can also cause aphonia.[4]
Any injury or condition that prevents the vocal cords, the paired bands of muscle tissue positioned over the trachea, from coming together and vibrating will have the potential to make a person unable to speak. When a person prepares to speak, the vocal folds come together over the trachea and vibrate due to the airflow from the lungs. This mechanism produces the sound of the voice. If the vocal folds cannot meet together to vibrate, sound will not be produced. Aphonia can also be caused by and is often accompanied by fear.[4]
### Psychogenic[edit]
Psychogenic aphonia is often seen in patients with underlying psychological problems. Laryngeal examination will usually show bowed vocal folds that fail to adduct to the midline during phonation. However, the vocal folds will adduct when the patient is asked to cough. Treatment should involve consultation and counseling with a speech pathologist and, if necessary, a psychologist.[2]
In this case, the patient's history and the observed unilateral immobility rules out function aphonia.
## See also[edit]
* Muteness
* Lists of language disorders
## References[edit]
1. ^ "What is loss of voice?".
2. ^ a b "Aphonia natural treatment". 2019-01-19.
3. ^ Roper, T. A. (2014). Clinical Skills - Page 162: Aphonia means "no sound". ISBN 9780199574926.
4. ^ a b c "Aphonia: Causes, Treatment".
## External links[edit]
Classification
D
* ICD-10: R49.1
* ICD-9-CM: 784.41
* MeSH: D001044
* DiseasesDB: 28364
* Muscle Tension Aphonia Video Example
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Aphonia | c0003564 | 30,604 | wikipedia | https://en.wikipedia.org/wiki/Aphonia | 2021-01-18T19:08:57 | {"mesh": ["D001044"], "umls": ["C0003564"], "icd-9": ["784.41"], "icd-10": ["R49.1"], "wikidata": ["Q514686"]} |
Smokeless tobacco keratosis
Other namesSnuff dippers' keratosis,[1] smokeless tobacco-associated keratosis,[2] snuff pouch,[3] snuff dipper's lesion,[3] tobacco pouch keratosis,[3] spit tobacco keratosis[3]
SpecialtyDentistry
Smokeless tobacco keratosis (STK)[4] is a condition which develops on the oral mucosa (the lining of the mouth) in response to smokeless tobacco use. Generally it appears as a white patch, located at the point where the tobacco is held in the mouth. The condition usually disappears once the tobacco habit is stopped. It is associated with slightly increased risk of mouth cancer.
There are many types of smokeless tobacco. Chewing tobacco is shredded, air-cured tobacco with flavoring. Dipping tobacco ("moist snuff") is air or fire-cured, finely cut tobacco. Dry snuff is ground or pulverised tobacco leaves. In the Indian subcontinent, the Middle-East and South-East Asia, tobacco may be combined in a quid or paan with other ingredients such as betel leaf, Areca nut and slaked lime.[3][5] Use of Areca nut is associated with oral submucous fibrosis.[3] An appearance termed Betel chewer's mucosa describes morsicatio buccarum with red-staining of mucosa due to betel quid ingredients.[3] In Scandinavian countries, snus, a variant of dry snuff, is sometimes used.[6] In the United States of America, the most common form of smokeless tobacco is dipping tobacco, although chewing tobacco is sometimes used by outdoor workers and dry snuff is common among females in the Southern states.[3][6] The overall prevalence of smokeless tobacco use in the USA is about 4.5%, but this is higher in Mid-Western and Southern states.[3]
## Contents
* 1 Signs and symptoms
* 2 Diagnosis
* 3 Treatment
* 4 Prognosis
* 5 Epidemiology
* 6 See also
* 7 References
* 8 External links
## Signs and symptoms[edit]
STK typically occurs in the buccal sulcus (inside the cheek) or the labial sulcus (between the lips and the teeth) and corresponds to the site where the tobacco is held in the mouth.[6] It is painless.[7]
The appearance of the lesion is variable depending upon the type of tobacco used, and the frequency and duration of use.[6] It takes about 1-5 years of smokeless tobacco use for the lesion to appear.[7] Early lesions may appear as thin, translucent and granular or wrinkled mucosa.[2][6] The later lesion may appear thicker, more opaquely white and hyperkeratotic with fissures and folds.[6][2] Oral snuff causes more pronounced changes in the oral mucosa than tobacco chewing.[1] Snuff dipping is associated more with verrucous keratosis.[1]
As well as the white changes of the oral mucosa, there may be gingival recession (receding gums) and staining of tooth roots in the area where the tobacco is held.[7]
## Diagnosis[edit]
See also: Leukoplakia § Differential diagnosis of an oral white patch
Diagnosis is mainly clinical, based on the history and clinical appearance. The differential diagnosis includes other oral white lesions such as Leukoplakia, squamous cell carcinoma, oral candidiasis, lichen planus, white sponge nevus and contact stomatitis.[7] In contrast to pseudomembraneous candidiasis, this white patch cannot be wiped off.[7] Tissue biopsy is sometimes carried out to rule out other lesions, although biopsy is not routinely carried out for this condition.[8]
## Treatment[edit]
Apart from stopping the habit, no other treatment is indicated.[1] Long term follow-up is usually carried out.[1] Some recommend biopsy if the lesions persists more than 6 weeks after giving up smokeless tobacco use,[7] or if the lesion undergoes a change in appearance (e.g. ulceration, thickening, color changes, especially to speckled white and red or entirely red).[8] Surgical excision may be carried out if the lesion does not resolve.[7]
## Prognosis[edit]
Usually this lesion is reversible if the tobacco habit is stopped completely,[6] even after many years of use.[1] In one report, 98% of lesions disappeared within 2 weeks of stopping tobacco use.[3] The risk of the lesion developing into oral cancer (generally squamous cell carcinoma[6] and its variant verrucous carcinoma)[1] is relatively low.[4] Indeed, veruccous carcinoma is sometimes term "snuff dipper's cancer".[3] In most reported cases, malignant transformation has occurring in individuals with a very long history of chewing tobacco or who use dry snuff.[6]
Smokeless tobacco use is also accompanied by increased risk of other oral conditions such as dental caries (tooth decay), periodontitis (gum disease), attrition (tooth wear) and staining.[2]
## Epidemiology[edit]
STK is extremely common among smokeless tobacco users.[8] Given the association with smokeless tobacco use, this condition tends to occur in adults.[1] A national USA survey estimated an overall prevalence of 1.5% of all types of smokeless tobacco lesions, with males affected more commonly than females.[3]
## See also[edit]
* Stomatitis nicotina
* Smoker's melanosis
## References[edit]
1. ^ a b c d e f g h Scully C (2013). Oral and Maxillofacial Medicine: The Basis of Diagnosis and Treatment (3rd ed.). Elsevier Health Sciences. pp. 287–288. ISBN 0-7020-4948-4.
2. ^ a b c d Ibsen OAC; Phelan JA (14 April 2014). Oral Pathology for the Dental Hygienist. Elsevier Health Sciences. p. 54. ISBN 978-0-323-29130-9.
3. ^ a b c d e f g h i j k l Chi AC, Damm DD, Neville BW, Allen CA, Bouquot J (11 June 2008). Oral and Maxillofacial Pathology. Elsevier Health Sciences. pp. 398–401. ISBN 978-1-4377-2197-3.
4. ^ a b Greer RO, Jr (February 2011). "Oral manifestations of smokeless tobacco use". Otolaryngologic clinics of North America. 44 (1): 31–56, v. doi:10.1016/j.otc.2010.09.002. PMID 21093622.
5. ^ Eversole LR (2011). Clinical Outline of Oral Pathology: Diagnosis and Treatment. PMPH-USA. pp. 14–16. ISBN 978-1-60795-015-8.
6. ^ a b c d e f g h i Werning JW (1 January 2011). Oral Cancer: Diagnosis, Management, and Rehabilitation. Thieme. pp. 12–13. ISBN 978-1-60406-485-8.
7. ^ a b c d e f g Laskaris G (1 January 2011). Treatment of Oral Diseases: A Concise Textbook. Thieme. p. 157. ISBN 978-3-13-161371-4.
8. ^ a b c Petruzzelli GJ (1 September 2008). Practical Head and Neck Oncology. Plural Publishing. pp. 237–238. ISBN 978-1-59756-783-1.
## External links[edit]
Classification
D
* v
* t
* e
Oral and maxillofacial pathology
Lips
* Cheilitis
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Periodontium (gingiva, periodontal ligament, cementum, alveolus) – Gums and tooth-supporting structures
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* v
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Smoking
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* Health effects of tobacco (Nicotine poisoning
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* Category
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
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*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Smokeless tobacco keratosis | c0685919 | 30,605 | wikipedia | https://en.wikipedia.org/wiki/Smokeless_tobacco_keratosis | 2021-01-18T19:04:27 | {"umls": ["C0685919"], "wikidata": ["Q25312963"]} |
Lennox-Gastaut syndrome is a severe condition characterized by recurrent seizures (epilepsy) that begin early in life. Affected individuals have multiple types of seizures, a particular pattern of brain activity (called slow spike-and-wave) measured by a test called an electroencephalogram (EEG), and impaired mental abilities.
In Lennox-Gastaut syndrome, epilepsy begins in early childhood, usually between ages 3 and 5. The most common seizure type is tonic seizures, which cause the muscles to stiffen (contract) uncontrollably. These seizures typically occur during sleep; they may also occur during wakefulness and cause sudden falls. Also common are atypical absence seizures, which cause a very brief partial or complete loss of consciousness. Additionally, many affected individuals have episodes called drop attacks, which cause sudden falls that can result in serious or life-threatening injuries. Drop attacks may be caused by sudden loss of muscle tone (described as atonic) or by abnormal muscle contraction (described as tonic). Other types of seizures have been reported less frequently in people with Lennox-Gastaut syndrome. Seizures associated with Lennox-Gastaut syndrome often do not respond well to therapy with anti-epileptic medications.
Although each seizure episode associated with Lennox-Gastaut syndrome is usually brief, more than two-thirds of affected individuals experience prolonged periods of seizure activity (known as status epilepticus) or episodes of many seizures that occur in a cluster.
Most children with Lennox-Gastaut syndrome have intellectual disability or learning problems even before seizures begin. These problems may worsen over time, particularly if seizures are very frequent or severe. Some affected children develop additional neurological abnormalities and behavioral problems. Many also have delayed development of motor skills such as sitting and crawling. As a result of their seizures and intellectual disability, most people with Lennox-Gastaut syndrome require help with the usual activities of daily living. However, a small percentage of affected adults live independently.
People with Lennox-Gastaut syndrome have a higher risk of death than their peers of the same age. Although the increased risk is not fully understood, it is partly due to poorly controlled seizures and injuries from falls.
## Frequency
Lennox-Gastaut syndrome affects an estimated 1 to 2 per million people. This condition accounts for less than 5 percent of all cases of childhood epilepsy. For unknown reasons, it appears to be more common in males than in females.
## Causes
Lennox-Gastaut syndrome can have many different causes. The disorder likely has a genetic component, although the specific genetic factors are not well understood.
Most cases of Lennox-Gastaut syndrome are caused by an existing neurological abnormality. These cases can be associated with brain injuries that occur before or during birth, problems with blood flow in the developing brain, brain infections, or other disorders affecting the nervous system. The condition can also result from brain malformations such as forms of cortical dysplasia, which are abnormalities in the outer surface of the brain (cerebral cortex). Many people with Lennox-Gastaut syndrome have a history of epilepsy beginning in infancy (infantile spasms) or a related condition called West syndrome before developing the features of Lennox-Gastaut syndrome.
In addition, mutations in several genes have been associated with Lennox-Gastaut syndrome, each in a small number of affected individuals. These genes are involved in the function of nerve cells in the brain, but it is unclear how changes in them contribute to the development of Lennox-Gastaut syndrome. The condition can also occur as part of a genetic disorder such as tuberous sclerosis complex.
In about 10 percent of affected individuals, the cause of Lennox-Gastaut syndrome is unknown. These individuals have no history of seizures, neurological problems, or delayed development.
### Learn more about the genes associated with Lennox-Gastaut syndrome
* CHD2
* FOXG1
* SCN1A
* SCN8A
* STXBP1
Additional Information from NCBI Gene:
* ALG13
* DNM1
* GABRB3
## Inheritance Pattern
Most cases of Lennox-Gastaut syndrome are sporadic, which means they occur in people with no history of the disorder in their family. When Lennox-Gastaut syndrome is associated with a genetic change, the mutation is usually not inherited but occurs as a random (de novo) event during the formation of reproductive cells (eggs or sperm) in an affected person's parent or in early embryonic development. However, 3 to 30 percent of people with this condition have a family history of some type of epilepsy, indicating that inherited genetic factors may play a role in some cases of Lennox-Gastaut syndrome.
*[v]: View this template
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Lennox-Gastaut syndrome | c3807541 | 30,606 | medlineplus | https://medlineplus.gov/genetics/condition/lennox-gastaut-syndrome/ | 2021-01-27T08:24:59 | {"gard": ["9912"], "omim": ["606369"], "synonyms": []} |
For a phenotypic description and a discussion of genetic heterogeneity of infantile hypertrophic pyloric stenosis (IHPS), see 179010.
Mapping
Everett et al. (2008) performed a genomewide single-nucleotide polymorphism (SNP)-based density linkage scan of 81 IHPS pedigrees. Nonparametric and parametric linkage analysis identified loci on chromosomes 11q14-q22 (IHPS3; 612017) and Xq23 (IHPS4). The locus at Xq23 achieved a Z(max) of 4.3 (P less than 0.00001) at rs3027802, and a maximum heterogeneity lod score (hlod) of 4.8 with an assumption of X-linked recessive inheritance. Each of the 2 linked chromosomal regions harbors a functional candidate gene that is a member of the canonic transient receptor potential (TRPC) family of iron channels and has a potential role in smooth muscle control and hypertrophy: TRPC6 (603652) on 11q21-q22 and TRPC5 (300334) on Xq23.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| PYLORIC STENOSIS, INFANTILE HYPERTROPHIC, 4 | c2678037 | 30,607 | omim | https://www.omim.org/entry/300711 | 2019-09-22T16:19:44 | {"mesh": ["C567472"], "omim": ["300711"]} |
Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Microcephaly-complex motor and sensory axonal neuropathy syndrome | None | 30,608 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=423894 | 2021-01-23T17:30:58 | {"icd-10": ["G60.0"]} |
For a phenotypic description and a discussion of genetic heterogeneity of susceptibility loci for dyslexia, see DYX1 (127700).
Mapping
Developmental dyslexia is defined as a specific and significant impairment in reading ability that cannot be explained by deficits in intelligence, learning opportunity, motivation, or sensory acuity. It is one of the most frequently diagnosed disorders in childhood, representing a major educational and social problem. It is well established from investigation of twins (DeFries et al., 1987) and other studies that dyslexia is a significantly heritable trait with a neurobiologic basis (Habib, 2000). Fisher et al. (2002) presented the first 2 complete QTL-based genomewide scans for dyslexia, in large samples of families from the United Kingdom and United States. They found linkage to marker D18S53 as one of the most significant results in each scan. Strong evidence was found for linkage to 18p11.2 for single-word reading. Measures related to phonologic and orthographic processing also showed linkage at this locus. They replicated linkage to 18p11.2 in a third independent sample of families (from the U.K.), in which the strongest evidence came from a phoneme-awareness measure. A combined analysis of all U.K. families confirmed that this newly discovered 18p QTL is probably a general risk factor for dyslexia, influencing several reading-related processes. This was said to be the first report of QTL-based genomewide scanning for a human cognitive trait.
Schulte-Korne et al. (2006) failed to replicate the linkage of dyslexia to chromosome 18p in a study of 82 affected German families.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| DYSLEXIA, SUSCEPTIBILITY TO, 6 | c1847757 | 30,609 | omim | https://www.omim.org/entry/606616 | 2019-09-22T16:10:18 | {"omim": ["606616"]} |
The number of adults and children living with HIV/AIDS in Benin in 2003 was estimated by the Joint United Nations Programme for HIV/AIDS (UNAIDS) to range between 38,000 and 120,000, with nearly equal numbers of males and females. A recent study conducted by the National AIDS Control Program estimated the number of people living with HIV/AIDS to be 71,950. In 2003, an estimated 6,140 adults and children died of AIDS. Benin has a well-functioning system of antenatal HIV surveillance; in 2002, the median HIV prevalence at 36 antenatal clinics was 1.9%. Another study in 2002 showed an overall prevalence of 2.3% among adults in Cotonou, Benin's largest city.[1]
Heterosexual intercourse and mother-to-child transmission (MTCT) are the primary modes of HIV transmission in Benin. HIV prevalence is relatively low compared with rates in most other countries in sub-Saharan Africa, but the virus is spreading steadily among young adults and vulnerable populations. In a 2002 study, an HIV prevalence of 44.7% was found among sex workers in four urban areas. In 2002, another study showed that HIV among sex workers in Cotonou, while still very high, had declined from nearly 60% in 1996 to 50% in 1999 and to 39% in 2002.[1]
At the end of 2003, approximately 5,700 children aged 14 or younger were living with HIV/AIDS, mainly as a result of MTCT of HIV. At the end of 2003, nearly 34,000 children under age 17 had lost one or both parents to AIDS, and only 1,000 of these had received assistance such as food aid, health care, protection services, or psychosocial support.[1]
Although knowledge of HIV and modes of transmission and prevention is widespread in Benin, prevention communication efforts have not led to a corresponding shift in behavior. The rising incidence of HIV is due primarily to poverty, migration, unsafe sexual practices, misperceptions regarding risk, and the low status of women, 80% of whom are illiterate.[1]
## National response[edit]
Benin is a very poor country. More than a third of the population lives in poverty. Adult illiteracy, especially among women, and under-five child mortality are both high. Population growth is making it difficult for Benin to achieve sustainable social and economic development.[1]
The president and other political leaders have publicly supported the fight against HIV/AIDS. National funding for HIV/AIDS activities, derived from the federal budget and debt-relief funds, totalled approximately $3.2 million in 2003.
With the plan for the period 2001–2005, Benin was nearing the end of its fourth intermediate national strategy to control HIV/AIDS. The plan called for promoting greater awareness of HIV/AIDS through a variety of public information, education, and communication efforts. Prevention, care, support, and treatment efforts are aimed at youth, women, migrants, sex workers, and persons living with HIV/AIDS. Benin receives multinational support for HIV/AIDS activities from the United States; the five-country, World Bank-led HIV/AIDS Abidjan-Lagos Transport Corridor project; the World Health Organization (WHO) 3x5 Initiative; and the Global Fund to Fight AIDS, Tuberculosis and Malaria (GFATM). Still, Benin faces a financial gap of approximately $32 million to fully implement its national strategic plan.[1]
## See also[edit]
* AIDS pandemic
* HIV/AIDS in Africa
## References[edit]
1. ^ a b c d e f "Health Profile: Benin" Archived 2008-08-16 at the Wayback Machine. USAID (November 2004). This article incorporates text from this source, which is in the public domain.
* v
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*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| HIV/AIDS in Benin | None | 30,610 | wikipedia | https://en.wikipedia.org/wiki/HIV/AIDS_in_Benin | 2021-01-18T18:41:15 | {"wikidata": ["Q5629820"]} |
Rhabdomyoma
Surgically excised cardiac rhabdomyoma (unfixed)
SpecialtyOncology
A rhabdomyoma is a benign tumor of striated muscle. Rhabdomyomas may be either "cardiac" or "extra cardiac" (occurring outside the heart). Extracardiac forms of rhabdomyoma are sub classified into three distinct types: adult type, fetal type, and genital type.
Cardiac rhabdomyomas are the most common primary tumor of the heart in infants and children. It has an association with tuberous sclerosis.[1] In those with tuberous sclerosis, the tumor may regress and disappear completely, or remain consistent in size.[citation needed]
It is most commonly associated with the tongue,[2] and heart,[3] but can also occur in other locations, such as the vagina.[4]
Malignant skeletal muscle tumors are referred to as rhabdomyosarcoma. Only rare cases of possible malignant change have been reported in fetal rhabdomyoma. The differential diagnosis in the tongue includes ectomesenchymal chondromyxoid tumor.[5]
## Additional images[edit]
Photomicrograph of fetal-type rhabdomyoma: Note the plump, pink benign skeletal muscle cells.
## References[edit]
1. ^ Bader RS, Chitayat D, Kelly E, et al. (November 2003). "Fetal rhabdomyoma: prenatal diagnosis, clinical outcome, and incidence of associated tuberous sclerosis complex". J. Pediatr. 143 (5): 620–4. doi:10.1067/S0022-3476(03)00494-3. PMID 14615733.
2. ^ Pérez-Alonso P, Sánchez-Simón R, Contreras F, Patrón-Romero M (December 2000). "Special feature: pathological case of the month. Denouement and discussion: fetal rhabdomyoma of the tongue (myxoid type)". Arch Pediatr Adolesc Med. 154 (12): 1265–6. doi:10.1001/archpedi.154.12.1265. PMID 11115314.
3. ^ Sugiyama H, Naito H, Tsukano S, Echigo S, Kamiya T (November 2005). "Evaluation of cardiac tumors in children by electron-beam computed tomography: rhabdomyoma and fibroma". Circ. J. 69 (11): 1352–6. doi:10.1253/circj.69.1352. PMID 16247210.
4. ^ Edward F. Goljan (2009). Pathology (Third ed.). Elsevier. p. 537. "Tumour Type: Rhabdomyoma; Location: Heart, also tongue and vagina; Comment: Benign heart tumour associated with tuberous sclerosis"
5. ^ Smith BC, Ellis GL, Meis-Kindblom JM, Williams SB (May 1995). "Ectomesenchymal chondromyxoid tumor of the anterior tongue. Nineteen cases of a new clinicopathologic entity". Am J Surg Pathol. 19 (5): 519–30. doi:10.1097/00000478-199505000-00003. PMID 7726361. S2CID 21161742.
Classification
D
* ICD-10: D21 (ILDS D21.M50)
* ICD-9-CM: 215
* ICD-O: 8900/0
* MeSH: D012207
* SNOMED CT: 302846007
External resources
* eMedicine: med/2021
* v
* t
* e
Connective/soft tissue tumors and sarcomas
Not otherwise specified
* Soft-tissue sarcoma
* Desmoplastic small-round-cell tumor
Connective tissue neoplasm
Fibromatous
Fibroma/fibrosarcoma:
* Dermatofibrosarcoma protuberans
* Desmoplastic fibroma
Fibroma/fibromatosis:
* Aggressive infantile fibromatosis
* Aponeurotic fibroma
* Collagenous fibroma
* Diffuse infantile fibromatosis
* Familial myxovascular fibromas
* Fibroma of tendon sheath
* Fibromatosis colli
* Infantile digital fibromatosis
* Juvenile hyaline fibromatosis
* Plantar fibromatosis
* Pleomorphic fibroma
* Oral submucous fibrosis
Histiocytoma/histiocytic sarcoma:
* Benign fibrous histiocytoma
* Malignant fibrous histiocytoma
* Atypical fibroxanthoma
* Solitary fibrous tumor
Myxomatous
* Myxoma/myxosarcoma
* Cutaneous myxoma
* Superficial acral fibromyxoma
* Angiomyxoma
* Ossifying fibromyxoid tumour
Fibroepithelial
* Brenner tumour
* Fibroadenoma
* Phyllodes tumor
Synovial-like
* Synovial sarcoma
* Clear-cell sarcoma
Lipomatous
* Lipoma/liposarcoma
* Myelolipoma
* Myxoid liposarcoma
* PEComa
* Angiomyolipoma
* Chondroid lipoma
* Intradermal spindle cell lipoma
* Pleomorphic lipoma
* Lipoblastomatosis
* Spindle cell lipoma
* Hibernoma
Myomatous
general:
* Myoma/myosarcoma
smooth muscle:
* Leiomyoma/leiomyosarcoma
skeletal muscle:
* Rhabdomyoma/rhabdomyosarcoma: Embryonal rhabdomyosarcoma
* Sarcoma botryoides
* Alveolar rhabdomyosarcoma
* Leiomyoma
* Angioleiomyoma
* Angiolipoleiomyoma
* Genital leiomyoma
* Leiomyosarcoma
* Multiple cutaneous and uterine leiomyomatosis syndrome
* Multiple cutaneous leiomyoma
* Neural fibrolipoma
* Solitary cutaneous leiomyoma
* STUMP
Complex mixed and stromal
* Adenomyoma
* Pleomorphic adenoma
* Mixed Müllerian tumor
* Mesoblastic nephroma
* Wilms' tumor
* Malignant rhabdoid tumour
* Clear-cell sarcoma of the kidney
* Hepatoblastoma
* Pancreatoblastoma
* Carcinosarcoma
Mesothelial
* Mesothelioma
* Adenomatoid tumor
* v
* t
* e
Cancers from and involving the heart
Primary
* Papillary fibroelastoma
* Rhabdomyoma
* Angiosarcoma
* Teratoma
* Cystic tumour of the atrioventricular nodal region
Other
* Myxoma
* Atrial
* Lipoma
* Secondary
* v
* t
* e
Tumors of lip, oral cavity and pharynx / head and neck cancer
Oral cancer
Salivary gland
malignant epithelial tumors
* Acinic cell carcinoma
* Mucoepidermoid carcinoma
* Adenoid cystic carcinoma
* Salivary duct carcinoma
* Epithelial-myoepithelial carcinoma
* Polymorphous low-grade adenocarcinoma
* Hyalinizing clear cell carcinoma
benign epithelial tumors
* Pleomorphic adenoma
* Warthin's tumor
ungrouped:
* Oncocytoma
Tongue
* Leukoplakia
* Rhabdomyoma
* Oropharynx
This oncology article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Rhabdomyoma | c0035411 | 30,611 | wikipedia | https://en.wikipedia.org/wiki/Rhabdomyoma | 2021-01-18T18:50:23 | {"mesh": ["D012207"], "umls": ["C0035411"], "icd-9": ["215"], "icd-10": ["D21"], "wikidata": ["Q2147401"]} |
This article may contain excessive or improper use of non-free material. Please review the use of non-free content according to policy and guidelines and correct any violations. The talk page may have details. (September 2020) (Learn how and when to remove this template message)
Ductopenia refers to a reduction in the number of ducts in an organ. It is the histological hallmark of vanishing bile duct syndrome (typically <0.5 bile ducts per portal triad). The most common cause of ductopenia is primary biliary cholangitis.
Other causes of ductopenia include failing liver transplant, Hodgkin's lymphoma, graft-versus-host disease (GVHD), sarcoid, cytomegalovirus infection, HIV and medication toxicity.
This article or section may have been copied and pasted from another location, possibly in violation of Wikipedia's copyright policy. Please review https://www.kjim.org/journal/view.php?doi=10.3904/kjim.2009.24.3.270 (DupDet · CopyVios) and remedy this by editing this article to remove any non-free copyrighted content and attributing free content correctly, or flagging the content for deletion. Please be sure that the supposed source of the copyright violation is not itself a Wikipedia mirror. (September 2020)
Idiopathic adulthood ductopenia (IAD) is a chronic cholestatic liver disease of unknown etiology characterized by adult onset, an absence of autoantibodies, inflammatory bowel disease, and a loss of interlobular bile ducts. In the present report, a case fulfilling the IAD criteria is described. A 19-year-old man was admitted to the hospital for persistent elevation of transaminases and alkaline phosphatase without clinical symptoms. Viral hepatitis markers and autoantibodies were absent. The patient had a normal extrahepatic biliary tree and had no evidence of inflammatory bowel disease. A liver biopsy specimen showed absence of interlobular bile ducts from 58% of the portal tracts. He was diagnosed with IAD and was treated with ursodeoxycholic acid.[1]
## References[edit]
1. ^ Park, Byeong Chool; Park, Seon Mee; Choi, Eun Young; Chae, Hee Bok; Yoon, Se Jin; Sung, Rohyun; Lee, Sung Koo (2009). "A Case of Idiopathic Adulthood Ductopenia". The Korean Journal of Internal Medicine. 24 (3): 270–273. doi:10.3904/kjim.2009.24.3.270. PMC 2732788. PMID 19721865.
Look up ductopenia in Wiktionary, the free dictionary.
## External links[edit]
* "How This Doctor Created an Education Empire from His Dorm Room".
* "Dr. Chandra Pemmasani: "Here Are 5 Things I Wish Someone Told Me Before I Became the CEO of UWorld"". 11 December 2019.
This medical article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Ductopenia | c4021591 | 30,612 | wikipedia | https://en.wikipedia.org/wiki/Ductopenia | 2021-01-18T18:50:39 | {"umls": ["C4021591", "C3830376"], "wikidata": ["Q5311612"]} |
A garlic bulb next to a clove crushed in a garlic press
Garlic allergy or allergic contact dermatitis to garlic is a common inflammatory skin condition caused by contact with garlic oil or dust. It mostly affects people who cut and handle fresh garlic, such as chefs,[1] and presents on the tips of the thumb, index and middle fingers of the non-dominant hand (which typically hold garlic bulbs during the cutting). The affected fingertips show an asymmetrical pattern of fissure as well as thickening and shedding of the outer skin layers, which may progress to second- or third-degree burn of injured skin.[2]
Garlic dermatitis is similar to the tulip dermatitis and is induced by a combined mechanical and chemical action. Whereas the former mechanism acts via skin rubbing which progresses into damage, the major cause of the latter is the chemical diallyl disulfide (DADS),[2] together with related compounds allyl propyl disulfide and allicin. These chemicals occur in oils of plants of the genus Allium, including garlic, onion and leek.[3]
Garlic allergy has been known since at least 1950. It is not limited to hand contact, but can also be induced, with different symptoms, by inhaling garlic dust or ingesting raw garlic, though the latter cases are relatively rare.[3] DADS penetrates through most types of commercial gloves, and thus wearing gloves while handling garlic has proven inefficient against the allergy.[4] Treatment includes avoiding any contact with garlic oil or vapours, as well as medication, such as administering acitretin (25 mg/day, orally) or applying psoralen and ultraviolet light to the affected skin area over a period of 12 weeks (PUVA therapy).[5]
## See also[edit]
* List of allergies
## References[edit]
1. ^ Lasse Kanerva; Peter Elsner; Jan E. Wahlberg; Howard I. Maibach (2004). Condensed handbook of occupational dermatology. Springer. p. 396. ISBN 3-540-44348-7.
2. ^ a b Thomas D. Horn (2003). Dermatology, Volume 2. Elsevier Health Sciences. p. 305. ISBN 0-323-02578-1.
3. ^ a b Eric Block (2009). Garlic and other alliums: the lore and the science. Royal Society of Chemistry. p. 228. ISBN 978-0-85404-190-9.
4. ^ Moyle, M; Frowen, K; Nixon, R (2004). "Use of gloves in protection from diallyl disulphide allergy". The Australasian Journal of Dermatology. 45 (4): 223–5. doi:10.1111/j.1440-0960.2004.00102.x. PMID 15527433.
5. ^ Robert L. Rietschel; Joseph F. Fowler; Alexander A. Fisher (2008). Fisher's contact dermatitis. PMPH-USA. p. 723. ISBN 978-1-55009-378-0.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Garlic allergy | None | 30,613 | wikipedia | https://en.wikipedia.org/wiki/Garlic_allergy | 2021-01-18T18:40:58 | {"wikidata": ["Q3232749"]} |
Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis (see this term) that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)) (see these terms). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Peeling skin syndrome | c0406357 | 30,614 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=817 | 2021-01-23T18:59:46 | {"gard": ["7347"], "umls": ["C0343064", "C0406357", "C1849193"], "icd-10": ["Q80.8"], "synonyms": ["Deciduous skin", "Familial continuous skin peeling syndrome", "Idiopathic deciduous skin", "Keratosis exfoliativa congenita", "PSS", "Peeling skin disease"]} |
Not to be confused with Joint lock.
In medicine, joint locking is a symptom of pathology in a joint. It is a complaint by a person when they are unable to fully flex or fully extend a joint. This term is also used to describe the mechanism of lower limb joints held in full extension without much muscular effort when a person is standing.
## Clinical symptom[edit]
Complaints of locking sensation in the knee joint can be divided into true locking and pseudo locking. True locking happens when the intra-articular structure (e.g. ligaments)[1] is damaged, or a loose body is present inside the joint, or there is a meniscal tear. The knee can be unlocked by rotating the leg and full movement can be restored. A person may feel the presence of a loose body in the suprapatellar region or lateral and medial gutter. Once the loose body is felt, it may slide and move to another area, thus it is also called a "joint mouse".[2]
Pseudolocking usually happens when a person feels pain when trying to flex or extend a knee joint while there are no structural causes of the locking. The locking is usually relieved after a massage or taking painkillers.[2]
Joint locking is a common symptom of:
* Osteoarthritis
* Osteochondritis dissecans[3]
* Synovial osteochondromatosis
* Tear of meniscus of the knee[2]
* Anterior cruciate ligament injury of the knee[1]
## Locking mechanism[edit]
Locking of the knee happens during the last stages of extension when a person is standing up. Medial rotation of femur occurs as the space available at the lateral condyle of the tibia is being used up by the lateral condyle of the femur during extension. Therefore, lateral femoral condyle acts as an axis for medial femoral condyle to rotate backwards. This movement is aided by the oblique pull of the ligaments of the knee joint and contraction of the quadriceps muscles. The ligaments are pulled taut when the knee joint is locked in place during standing. When the knee is flexed, it is unlocked by the popliteus muscle through the lateral rotation of femur.[4]
The locking mechanisms of hip joint[5] and midtarsal joint[6][7] are also being investigated in cadavers.
## References[edit]
1. ^ a b Roald, Bahr; Sverre, Mæhlum (2004). Clinical Guide to Sports Injuries. Human Kinetics. p. 325. ISBN 9780736041171. Retrieved 19 January 2018.
2. ^ a b c Nick, Harris (2003). Advanced Examination Techniques in Orthopaedics. Cambridge University Press. p. 150. ISBN 9781841100739. Retrieved 19 January 2018.
3. ^ Hixon AL, Gibbs LM (January 2000). "What Should I Know About Osteochondritis Dissecans?". American Family Physician. 61 (1): 158.
4. ^ Krishna, Garg (2010). "12 - Joints of lower limb". BD Chaurasia's Human Anatomy (Regional and Applied Dissection and Clinical) Volume 2 - Lower limb, abdomen, and pelvis (Fifth ed.). India: CBS Publishers and Distributors Pvt Ltd. p. 156. ISBN 978-81-239-1864-8. "Locking is a mechanism that allows the knee to remain the position of full extension as in standing without much muscular effort"
5. ^ W.H, Roberts (November 1963). "The locking mechanism of the hip joint". The Anatomical Record. 147 (3): 321–324. doi:10.1002/ar.1091470303.
6. ^ Blackwood, CB; Yuen, TJ; Sangeorzan, BJ; Leodux, WR (December 2005). "The midtarsal joint locking mechanism". Foot & Ankle International. 26 (12): 1074–1080. doi:10.1177/107110070502601213. PMID 16390642.
7. ^ Okita, N; Meyers, SA; Challis, JH; Sharkey, NA (January 2014). "Midtarsal joint locking: new perspectives on an old paradigm". Journal of Orthopaedic Research. 32 (1): 110–5. doi:10.1002/jor.22477. PMID 24038197.
* v
* t
* e
Symptoms and signs relating to movement and gait
Gait
* Gait abnormality
* CNS
* Scissor gait
* Cerebellar ataxia
* Festinating gait
* Marche à petit pas
* Propulsive gait
* Stomping gait
* Spastic gait
* Magnetic gait
* Truncal ataxia
* Muscular
* Myopathic gait
* Trendelenburg gait
* Pigeon gait
* Steppage gait
* Antalgic gait
Coordination
* Ataxia
* Cerebellar ataxia
* Dysmetria
* Dysdiadochokinesia
* Pronator drift
* Dyssynergia
* Sensory ataxia
* Asterixis
Abnormal movement
* Athetosis
* Tremor
* Fasciculation
* Fibrillation
Posturing
* Abnormal posturing
* Opisthotonus
* Spasm
* Trismus
* Cramp
* Tetany
* Myokymia
* Joint locking
Paralysis
* Flaccid paralysis
* Spastic paraplegia
* Spastic diplegia
* Spastic paraplegia
* Syndromes
* Monoplegia
* Diplegia / Paraplegia
* Hemiplegia
* Triplegia
* Tetraplegia / Quadruplegia
* General causes
* Upper motor neuron lesion
* Lower motor neuron lesion
Weakness
* Hemiparesis
Other
* Rachitic rosary
* Hyperreflexia
* Clasp-knife response
This article about Orthopedic surgery is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Joint locking (medicine) | c0547000 | 30,615 | wikipedia | https://en.wikipedia.org/wiki/Joint_locking_(medicine) | 2021-01-18T18:51:03 | {"umls": ["C0547000"], "wikidata": ["Q6269528"]} |
Huskins (1930) described an English family with affected members of at least 3 generations. He specifically stated that there was 'no evidence of any other defective condition being associated with this dental anomaly.' There was 1 affected female in the family.
Inheritance \- X-linked Teeth \- Absent central incisors ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| CENTRAL INCISORS, ABSENCE OF | c1844886 | 30,616 | omim | https://www.omim.org/entry/302400 | 2019-09-22T16:18:41 | {"omim": ["302400"]} |
The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.
## Epidemiology
It has been reported in four unrelated patients.
## Clinical description
A mask-like facial appearance is the most characteristic feature with blepharophimosis, tight appearing glistening facial skin, flat and broad nose, dysplastic ears and unusual scalp hair pattern. Camptodactyly, joint contractures, unusual dentition and mild developmental delay can be observed. Cryptorchidism in boys and a happy disposition are constant.
## Etiology
This microdeletion was identified by comparative genomic hybridisation (CGH) microarray.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| 8q22.1 microdeletion syndrome | c1842464 | 30,617 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=178303 | 2021-01-23T19:06:30 | {"gard": ["4722"], "mesh": ["C536110"], "omim": ["608156"], "umls": ["C1842464"], "icd-10": ["Q93.5"], "synonyms": ["Monosomy 8q22.1", "Nablus mask-like facial syndrome"]} |
Delayed blisters are a cutaneous condition observed weeks to months after the initial healing of second-degree thermal burns, donor sites of split-thickness skin grafts, and recipient sites of split-thickness skin grafts.[1]
## See also[edit]
* Coma blister
* List of cutaneous conditions
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 471. ISBN 1-4160-2999-0.
* v
* t
* e
General wounds and injuries
Abrasions
* Abrasion
* Avulsion
Blisters
* Blood blister
* Coma blister
* Delayed blister
* Edema blister
* Fracture blister
* Friction blister
* Sucking blister
Bruises
* Hematoma/Ecchymosis
* Battle's sign
* Raccoon eyes
* Black eye
* Subungual hematoma
* Cullen's sign
* Grey Turner's sign
* Retroperitoneal hemorrhage
Animal bites
* Insect bite
* Spider bite
* Snakebite
Other:
* Ballistic trauma
* Stab wound
* Blunt trauma/superficial/closed
* Penetrating trauma/open
* Aerosol burn
* Burn/Corrosion/Chemical burn
* Frostbite
* Occupational injuries
* Traumatic amputation
By region
* Hand injury
* Head injury
* Chest trauma
* Abdominal trauma
This dermatology article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Delayed blister | c2939080 | 30,618 | wikipedia | https://en.wikipedia.org/wiki/Delayed_blister | 2021-01-18T18:40:43 | {"umls": ["C2939080"], "wikidata": ["Q5253492"]} |
A number sign (#) is used with this entry because of evidence that nemaline myopathy-1 (NEM1) is caused by heterozygous, homozygous, or compound heterozygous mutation in the alpha-tropomyosin-3 gene (TPM3; 191030) on chromosome 1q21. Cap myopathy-1 (CAPM1), an overlapping disorder, is also caused by heterozygous mutation in the TPM3 gene.
Description
Nemaline myopathy-1 is a disorder characterized by muscle weakness, usually beginning in early childhood. The severity and pattern of muscle weakness varies, but most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability. Most patients have respiratory insufficiency due to muscle weakness. Other common features include myopathic facies, high-arched palate, and scoliosis. Histologic findings on skeletal muscle biopsy are variable, even in patients with the same mutation. Muscle fibers can contain nemaline rod inclusions, or so-called subsarcolemmal 'cap' structures, as well as show overall fiber-type disproportion. It has been suggested that unknown modifying factors confer a tendency to one or another pattern of inclusions on skeletal muscle biopsy in those with TPM3 mutations (summary by Waddell et al., 2010 and Malfatti et al., 2013).
For a discussion of genetic heterogeneity of nemaline myopathy, see 161800.
Clinical Features
Laing et al. (1992) reported a large 5-generation family with childhood-onset nemaline myopathy inherited in an autosomal dominant pattern. The proband had normal motor development until approximately 10 years of age, when he developed symmetrical weakness in foot dorsiflexion. The weakness progressed during adolescence to involve the proximal limb muscles. He had difficulty running and dysphagia. He had atrophy of the lower limbs with pes cavus, but no sensory impairment. An affected uncle had facial weakness, mild weakness of the sternocleidomastoid and trapezius muscles, and wasting and weakness of the proximal and distal lower extremities. All affected members had onset by age 10 years. Biopsy of the proband showed marked variation in muscle fiber size with numerous nemaline bodies within type 1 fibers. Laing et al. (1992) concluded that this family had a childhood-onset form of nemaline myopathy.
Tan et al. (1999) reported an Iranian patient, born of consanguineous parents, with severe infantile nemaline myopathy. Although no neonatal problems were reported, the infant showed extremely delayed motor development and died at age 21 months due to respiratory insufficiency resulting from an infectious illness. Muscle biopsy showed type 1 fiber hypotrophy and atrophy, with a mild predominance of type 2 fibers. Nemaline bodies were present in type 1 fibers only.
Penisson-Besnier et al. (2007) reported a large French family in which 8 members spanning 4 generations had nemaline myopathy. Inheritance was autosomal dominant. Age at onset of significant disease was usually in adulthood, but milder symptoms were often present since childhood. Most had delayed motor development, and some reported poor physical performances in childhood. Affected individuals were able to walk unaided but had proximal muscle weakness. Other features included scoliosis, need for nocturnal ventilation, slender build, and long face. Skeletal muscle biopsies showed type 1 fiber predominance and nemaline rods in type 1 fibers.
Lehtokari et al. (2008) reported 2 unrelated Turkish families, each with 2 children affected with autosomal recessive nemaline myopathy. Only 1 of the families was known to be consanguineous. In the first family, 2 affected boys were born with contractures of the knees and ankles, and later showed delayed motor development with weakness of the neck and facial muscles. One child did not achieve walking, while the other walked slowly with a waddling gait from the age of 2.5 to 3 years. Both patients had restricted vital capacity requiring nocturnal noninvasive ventilation. Other features included pectus carinatum deformity and scoliosis. Skeletal muscle biopsy of 1 brother showed hypotrophic type 1 fibers containing nemaline bodies. In the second family, both children had muscle hypotonia during the first month of life. Particular features were pronounced facial weakness, lack of head control, lax distal joints, and scoliosis. Motor milestones were delayed, and both became wheelchair-bound in childhood. Both children developed generalized joint contractures and mild chest deformities.
### Cap Myopathy 1
Ohlsson et al. (2009) reported a 38-year-old woman with congenital muscular dystrophy associated with cap structures on skeletal muscle biopsy who had previously been reported by Fidzianska (2002). The patient had slowly progressive muscle weakness and scoliosis since childhood, but was not examined until age 18 years. At that time, she had long narrow face, high-arched palate, chest deformity, and thin underdeveloped muscles. Other features included impaired nocturnal ventilation. Skeletal muscle biopsy showed that 20 to 30% of muscle fibers had granular cap structures devoid of ATPase activities. Myofibrils forming the caps were clearly demarcated from the remaining fibers and had an abnormal sarcomere pattern. Nemaline rods and fiber-type disproportion were not observed. Genetic analysis identified a heterozygous R168C mutation in the TPM3 gene (R168C; 191030.0009). The findings illustrated the phenotypic and histologic variability associated with TPM3 mutations, and suggested that cap disease is related to nemaline myopathy.
De Paula et al. (2009) reported a 42-year-old man with cap myopathy associated with a heterozygous de novo mutation in the TPM3 gene (R168H; 191030.0005). The patient showed hypotonia in the first months of life, delayed motor development, and distal weakness of the lower limbs with frequent falls in childhood. At age 7 years, he had flat feet in valgus, long narrow face, high-arched palate, and mild lumbar hyperlordosis. Tendon reflexes were absent. The clinical course was stable until presentation at age 42 with inability to run, difficulty climbing stairs, and predominant distal muscle weakness. Skeletal muscle biopsy at age 7 years showed type 1 fiber hypotrophy. Biopsy at age 42 years showed only type 1 fibers, irregularity of fiber size, occasional central nuclei, and peripheral eosinophilic-basophilic densely stained substances consistent with 'caps.' The caps were present in about 10 to 15% of muscle fibers, were negative for ATPase staining, were present just beneath the sarcolemma, and consisted of abnormally arranged myofibrils. Z lines were thickened with some rod-like structures. The authors noted that this case had first been reported as a congenital myopathy with selective hypotrophy of type 1 fibers (Serratrice et al., 1975), and that the biopsy results discussed in that report would have been consistent with congenital fiber-type disproportion (CFTD; 255310), a diagnosis of exclusion. The findings suggested a relationship between nemaline myopathy, CFTD, and cap myopathy, and indicated that cap structures may develop over time.
Waddell et al. (2010) reported a young man with cap myopathy associated with a de novo heterozygous mutation in the TPM3 gene (R168C; 191030.0009). He had mildly delayed motor development in early childhood, generalized hypotonia, and muscle weakness, particularly of the proximal lower limbs, ankle dorsiflexors, and neck. He had a long myopathic face with open mouth, high-arched palate, retrognathia, narrow chest, and mild scoliosis. At age 20 years, his pulmonary vital capacity was 37% of that predicted. Muscle biopsy taken at age 3 years showed increased variation in fiber size and subsarcolemmal protein inclusions in 25% of fibers, typical of caps. There was also type 1 fiber predominance. Caps stained strongly for several proteins, including tropomyosin, and electron microscopy showed disorganized thin filament structures containing Z band remnants. Nemaline rods were not present. Two-dimensional gel electrophoresis showed that the mutant protein accounted for about 50% of the TPM3 protein in sarcomeres, and Waddell et al. (2010) postulated a dominant-negative effect, perhaps resulting from altered protein-protein interactions. Waddell et al. (2010) noted that the R168C mutation had previously been reported in a patient with CFTD (patient 9 in Clarke et al., 2008). That patient had marked type 1 fiber hypotrophy and type 2 fiber hypertrophy, but no caps. These findings indicated that the fiber type distribution pattern as well as the pattern of protein inclusions can vary widely even among patients with the same TPM3 mutation.
Malfatti et al. (2013) reported a man of French Canadian origin, with early-onset myopathy and a de novo heterozygous R168C mutation in the TPM3 gene. He had typical clinical features of the disorder, with mildly delayed motor milestones, generalized hypotonia, proximal and distal muscle weakness, impaired respiratory function, long, narrow face, and high-arched palate. This clinical course was relatively stable over many years until age 32, when he had progressive dyspnea, severe fatigability, and respiratory failure associated with right cardiac failure. He recovered from this acute episode. Muscle biopsy showed type 1 fiber uniformity, subsarcolemmal caps in about 20% of fibers, typical nemaline rods in about 10% of fibers, and both caps and rods in about 5% of fibers. Electron microscopy demonstrated that the cap structures were composed of disorganized myofibrils and thickened Z bands; the nemaline rods had longitudinal and transverse striations and were surrounded by thin filaments. Some of the caps contained structures resembling small rods, and the intermyofibrillary network adjacent to caps or nemaline rods was composed of irregular and jagged Z lines. Malfatti et al. (2013) emphasized that the combination of rods and caps had not previously been reported in the same patient, which suggested that the 2 patterns are pathogenetically related. The findings confirmed that nemaline myopathy and cap myopathy resulting from TPM3 mutations are part of a disease spectrum.
### Atypical Nemaline Myopathy With Hypertonia
Donkervoort et al. (2015) reported 2 unrelated children with a hypercontractile phenotype with congenital muscle stiffness resulting in arthrogryposis multiplex and significant disability. Both showed decreased fetal movements. One had transient respiratory distress in infancy and mildly delayed motor development. At age 4 years, he had stiff muscles, walked with a stiff gait, and showed thoracic kyphosis. The second child had similar features with more severe respiratory involvement and was ventilator-dependent. Neither child had muscle weakness, atrophy, or myokymia. Muscle biopsies in both patients showed mild myopathic changes, with variation in fiber size and mild type 1 or 2 fiber predominance. Although there was no clear evidence of nemaline rods, there were irregularities of the myofibrillar apparatus and 'mini-miliary' rods, as well as ultrastructural evidence of mitochondrial accumulation and/or Z-line streaming and broadening. In 1 patient, botulinum toxin injections resulted in improved range of motion. Each patient carried a de novo heterozygous deletion of a conserved residue in the TPM3 gene (E218del, 191030.0010 and E224del, 191030.0011). In vitro studies showed that both mutations resulted in increased calcium sensitivity, increased active interaction of actin and the myosin complex, and increased filament sliding motility, consistent with a gain of function.
Mapping
In a large kindred in which 10 living members had childhood-onset nemaline myopathy inherited in an autosomal dominant pattern, Laing et al. (1991, 1992) found linkage to the APOA2 gene (107670) on chromosome 1 (maximum lod score of 3.80). The findings indicated that the putative disease gene lies between the genes for nerve growth factor-beta (NGFB; 162030) at 1p13 and antithrombin III (AT3; 107300) at 1q23-q25.1.
Molecular Genetics
In affected members of a large family with autosomal dominant childhood-onset nemaline myopathy, Laing et al. (1995) identified a heterozygous mutation in the TPM3 gene (191030.0001).
Tan et al. (1999) identified a homozygous nonsense mutation in the TPM3 gene (191030.0004) in a patient with severe infantile nemaline myopathy who died at age 21 months. Among 40 unrelated patients with nemaline myopathy, Wattanasirichaigoon et al. (2002) identified 1 patient who was compound heterozygous for 2 mutations in the TPM3 gene (191030.0002-191030.0003). Each of his parents was heterozygous for one of the mutations. The authors noted that mutations in the TPM3 gene are a rare cause of nemaline myopathy.
In affected members of a French family with autosomal dominant nemaline myopathy, Penisson-Besnier et al. (2007) identified a heterozygous mutation in the TPM3 gene (191030.0005).
In affected members of 2 Turkish families with autosomal recessive nemaline myopathy, Lehtokari et al. (2008) identified a homozygous mutation in the TPM3 gene (191030.0006). Haplotype analysis suggested a founder effect.
### Associations Pending Confirmation
For discussion of a possible association between nemaline myopathy and variation in the MYO18B gene, see 607295.0002.
INHERITANCE \- Autosomal dominant \- Autosomal recessive HEAD & NECK Face \- Facial diplegia \- Long face \- Narrow face Mouth \- High-arched palate Neck \- Neck muscle weakness RESPIRATORY \- Respiratory insufficiency \- Restricted vital capacity ABDOMEN Gastrointestinal \- Dysphagia SKELETAL \- Joint contractures Spine \- Scoliosis Feet \- Pes cavus MUSCLE, SOFT TISSUES \- Muscle weakness, lower limb, distal \- Muscle atrophy, lower limb, distal \- Muscle weakness, proximal \- Shoulder-girdle muscle atrophy \- Facial diplegia \- Normal neonatal period may occur before weakness is apparent \- Independent walking may not be achieved \- EMG shows myopathic changes \- Muscle biopsy shows subsarcolemmal nemaline bodies (rods) on Gomori trichrome staining \- Nemaline bodies occur in type 1 fibers \- Both type 1 and type 2 fiber predominance has been reported \- Cap structures, when present, contain disorganized myofibrils and thickened Z bands NEUROLOGIC Central Nervous System \- Delayed motor development due to muscle weakness MISCELLANEOUS \- Onset in childhood (range infancy to 10 years) \- Variable clinical severity \- Autosomal recessive disorder tends to be more severe \- Genetic heterogeneity (see 161800 ) MOLECULAR BASIS \- Caused by mutation in the tropomyosin-3 gene (TPM3, 191030.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| NEMALINE MYOPATHY 1 | c0546125 | 30,619 | omim | https://www.omim.org/entry/609284 | 2019-09-22T16:06:19 | {"doid": ["0110926"], "mesh": ["D017696"], "omim": ["609284"], "orphanet": ["171439", "171881", "171433"], "genereviews": ["NBK1288"]} |
A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by motor-predominant axonal polyneuropathy due to a defect in copper metabolism. Patients become symptomatic in infancy or childhood with subtle motor delay or regression, manifesting with progressive weakness, muscle wasting, and absent reflexes in the lower and upper extremities. In addition, vibratory sensation is mildly diminished. Involvement of the face with weakness and fasciculation of facial muscles has also been described.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect | None | 30,620 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=521411 | 2021-01-23T17:03:22 | {"synonyms": ["Autosomal recessive axonal CMT due to copper metabolism defect"]} |
A number sign (#) is used with this entry because of evidence that short-rib thoracic dysplasia-13 with or without polydactyly (SRTD13) is caused by homozygous mutation in the CEP120 gene (613446) on chromosome 5q23.
Biallelic mutations in the CEP120 gene have also been reported in patients with Joubert syndrome (JBTS31; 617761).
For a general phenotypic description and discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (208500).
Clinical Features
Shaheen et al. (2015) described 4 unrelated infants, 3 male and 1 female, with short-rib thoracic dysplasia and polydactyly (SRTD). Two were born of first-cousin Saudi parents, and 1 was born of Swiss parents who were not known to be related but came from the same village; the ethnic or geographic origin of the fourth patient was not noted. All 4 of the affected infants died of respiratory failure within the first week of life, and all had a small thorax with short horizontal ribs, dysplastic pelvis, short long bones, and preaxial polydactyly or synpolydactyly. Extraskeletal features included increased renal echogenicity on postnatal ultrasound in 1 patient, hypoplastic cerebellum in 1, and molar tooth sign in 1. In 1 family, there had been a previous intrauterine death of a fetus with skeletal dysplasia and preaxial polydactyly, and in another family, there had been 4 consecutive miscarriages. Shaheen et al. (2015) designated the phenotype of the patients as Jeune asphyxiating thoracic dystrophy (JATD).
Roosing et al. (2016) reported a male fetus of Flemish origin (SW-476410) diagnosed in utero with tectal and cerebellar dysraphia with occipital encephalocele (TCDOE) that was considered to be 'in the spectrum of Joubert syndrome' due to the presence of a suboccipital encephalocele, dysplastic tectum, severe hypoplasia of the cerebellar vermis, and the molar tooth sign seen on fetal MRI at 23 weeks' gestation. Postmortem examination revealed cleft palate, narrow thorax with short ribs and secondary lung hypoplasia, and discrete rhizomelic shortening of the limbs. Liver and kidneys were normal and there was no polydactyly. Roosing et al. (2016) also studied a male fetus of Turkish origin (MKS-2930) initially diagnosed with Meckel syndrome (see 249000) in the second trimester of pregnancy, due to the presence of cystic dysplastic kidneys, occipital encephalocele, and polydactyly. Postmortem examination after pregnancy termination revealed a narrow bell-shaped thorax with short ribs, rhizomelic limb shortening, bowing of long bones, microphthalmia, orofacial defects including lobulated tongue with multiple frenula and cleft soft palate, ambiguous genitalia, and anal atresia. Liver findings were not available. Of 3 previous pregnancies in the Turkish family, 1 ended in miscarriage and 2 in stillbirths.
Mapping
Using DNA from affected and unaffected members of 2 consanguineous Saudi families with SRTD, Shaheen et al. (2015) performed SNP-based autozygome analysis and identified an identical shared haplotype on chromosome 5 (chr5:121,129,268-123,737,922). Genomewide linkage analysis of these 2 families and 2 additional SRTD families, all carrying the same CEP120 mutation (see MOLECULAR GENETICS), revealed a single linkage peak on 5q23.2 with a 3.6 lod score.
Molecular Genetics
In 2 consanguineous Saudi families with SRTD mapping to a 2.6-Mb critical locus on chromosome 5, Shaheen et al. (2015) performed whole-exome sequencing and identified homozygosity for a missense mutation in the CEP120 gene (A199P; 613446.0001) that segregated with disease in both families. The variant, which was present in heterozygous state in 1 of 1,294 Saudi alleles tested and in 2 of 12,000 alleles in the Exome Variant Server database, was not found in the 1000 Genomes Project database; Shaheen et al. (2015) concluded that the very low frequency (minor allele frequency (MAF) = 0.00023) was compatible with the mutation being causal of a rare phenotype like SRTD. Screening of 109 additional affected individuals revealed 2 additional probands, including 1 born of Swiss parents, who were homozygous for the A199P mutation in CEP120. Haplotype analysis of the 2 Saudi families and the Swiss family showed shared runs of homozygosity of 714,139 bp, indicating that the mutation originated from a common founder and was most likely very ancient, consistent with the different ethnic and geographic origins of the families. The parents in the fourth family harbored the same CEP120 mutation on the same haplotype background in heterozygous state; DNA from the proband was unavailable.
In a male fetus of Flemish origin (SW-476410) exhibiting SRTD without polydactyly and with neurologic features including the molar tooth sign, Roosing et al. (2016) performed exome sequencing and identified compound heterozygosity for mutations in the CEP120 gene: the previously reported A199P mutation and a nonsense mutation (R151X; 613446.0002). By exome sequencing in another fetus of Turkish origin (MKS-2930), initially diagnosed with Meckel syndrome but also showing features of SRTD with polydactyly, Roosing et al. (2016) identified homozygosity for a missense mutation in CEP120 (I949S; 613446.0003). Contrasting the severity of the phenotype in these patients with the relatively mild, purely neurologic phenotype in 4 patients with CEP120-associated Joubert syndrome (JBTS31; 617761), Roosing et al. (2016) stated that the mechanism through which mutations in the same gene cause such wide phenotypic variability remained unexplained.
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature at birth HEAD & NECK Head \- Relative macrocephaly Face \- Coarse facies \- Midface hypoplasia \- Microretrognathia Ears \- Large ears \- Prominent lobules Eyes \- Hypertelorism \- Scant eyebrows \- Microphthalmia Nose \- Large nose \- Prominent nostrils Mouth \- Mild cleft lip (notch) \- Cleft palate \- Tongue hamartoma (lobulated tongue) \- Partially bifid tongue \- Multiple lingual frenula Teeth \- Natal teeth CARDIOVASCULAR Vascular \- Patent ductus arteriosus RESPIRATORY Lung \- Hypoplastic lungs \- Respiratory insufficiency CHEST External Features \- Narrow thorax \- Bell-shaped thorax Ribs Sternum Clavicles & Scapulae \- Short ribs \- Horizontal ribs ABDOMEN External Features \- Omphalocele Gastrointestinal \- Anal atresia GENITOURINARY External Genitalia (Male) \- Ambiguous genitalia \- Phallus-like structure \- Prominent prepuce Internal Genitalia (Male) \- Undescended testes Kidneys \- Small kidneys \- Cystic kidneys \- Increased echogenicity on ultrasound SKELETAL Skull \- Small facial bones Pelvis \- Small pelvis \- Dysplastic pelvic bone \- Flaring of iliac bones \- Small, squared iliac bones \- Horizontal acetabular roof \- Acetabular bony spurs \- Narrow sciatic notch \- Trident sciatic notch Limbs \- Rhizomelic limb shortening \- Micromelic short limbs \- Round-ended femur bones \- Small tibia \- Small fibula Hands \- Synpolydactyly \- Preaxial polydactyly \- Postaxial polydactyly (unilateral, in 1 patient) \- Severely hypoplastic middle and distal phalanges Feet \- Synpolydactyly \- Hallux deformity NEUROLOGIC Central Nervous System \- Unilateral coronal craniosynostosis \- Prominent and widened anterior and posterior fontanels \- Cerebellar hypoplasia \- Dandy-Walker malformation \- Vermian hypoplasia with molar-tooth appearance \- Molar tooth sign \- Enlarged posterior fossa \- Encephalocele, occipital or suboccipital \- Dysplastic tectum MISCELLANEOUS \- Death occurs early in neonatal period due to respiratory failure \- Fetal death may occur MOLECULAR BASIS \- Caused by mutation in the 120-kd centrosomal protein gene (CEP120, 613446.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY | c0265275 | 30,621 | omim | https://www.omim.org/entry/616300 | 2019-09-22T15:49:19 | {"doid": ["0110093"], "mesh": ["C537571"], "omim": ["616300"], "orphanet": ["474"]} |
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome | c1867397 | 30,622 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2252 | 2021-01-23T18:00:07 | {"gard": ["258"], "mesh": ["C536262"], "omim": ["179250"], "umls": ["C1867397", "C2931274"], "icd-10": ["Q87.2"], "synonyms": ["Schmitt-Gillenwater-Kelly syndrome"]} |
Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. This disorder is divided into two types, which are distinguished by the age at which symptoms appear and the severity of features. Sialidosis type II, the more severe type of the disorder, is further divided into congenital, infantile, and juvenile forms. This type of sialidosis often begins during infancy or later during childhood and is characterized by cherry-red macules, mildly coarse facial features, skeletal malformations and mild cognitive impairment. Sialidosis type II is caused by mutations in the NEU1 gene. People with sialidosis type II have mutations that severely reduce or eliminate NEU1 enzyme activity. The condition is inherited in an autosomal recessive pattern.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Sialidosis, type II | c0268228 | 30,623 | gard | https://rarediseases.info.nih.gov/diseases/7183/sialidosis-type-ii | 2021-01-18T17:57:43 | {"mesh": ["C537366"], "omim": ["256550"], "orphanet": ["87876"], "synonyms": ["Mucolipidosis type 1", "Neuraminidase deficiency", "Lipomucopolysaccharidosis", "Sialidase deficiency", "Glycoprotein neuraminidase deficiency", "ML1", "NEUG deficiency", "Neuraminidase 1 deficiency", "NEU 1 deficiency"]} |
A number sign (#) is used with this entry because of evidence that cardiofaciocutaneous syndrome-4 (CFC4) is caused by heterozygous mutation in the MAPK2K2 gene (601263) on chromosome 19p13.
For a general phenotypic description and a discussion of genetic heterogeneity of cardiofaciocutaneous syndrome, see CFC1 (115150).
Description
Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder in which individuals have characteristic craniofacial features, cardiac defects, ectodermal anomalies, gastrointestinal dysfunction, and neurocognitive delay (summary by Rauen et al., 2010).
Clinical Features
Rodriguez-Viciana et al. (2006) identified 1 patient with CFC4 among 23 CFC patients. The child had characteristic craniofacial features, ectodermal abnormalities, aortic valve defect and nonprogressive ventricular septal hypertrophy, short stature with growth hormone deficiency, scoliosis and pectus deformity, ocular abnormalities (nystagmus, strabismus, myopia, bilateral cataracts and optic nerve hypoplasia), cerebellar hypoplasia, prominence of the lateral ventricles, thinning of the corpus callosum, and moderate developmental delay. Hypotonia, heat intolerance, and excessive sweating were also present.
Rauen et al. (2010) reported the first documented case of vertical transmission of CFC in a 4-generation Caucasian Cajun family. The proband was initially evaluated at age 7.5 months for short stature and mild pulmonic stenosis. He was found to have mildly delayed motor milestones and classic facial features of the disorder, including high forehead with bitemporal narrowing and telecanthus, as well as ectodermal anomalies. The mother had similar facial features and mild pulmonic stenosis, and several family members reportedly had similar facial and ectodermal features, as well as learning delays and disabilities. After another affected boy was born to this mother, molecular genetic testing was undertaken and the mutation in MEK2 identified. Two individuals with mutations in this pedigree developed cancer: the proband's maternal great grandmother developed a large B-cell lymphoma at age 70 and the proband's maternal great uncle died of acute lymphoblastic leukemia (ALL) at age 41 years.
Linden and Price (2011) reported the second family showing vertical transmission of CFC4. The proband was a 46-year-old man with mildly delayed development, pulmonary stenosis as a child, myopia, short stature, tightly curled short hair, absent eyebrows, hyperelastic skin, and multiple lentigines. His 40-year-old brother and 68-year-old mother had similar features. Linden and Price (2011) emphasized the mild cognitive phenotype in these patients, suggesting greater reproductive success.
Molecular Genetics
Cardiofaciocutaneous syndrome most commonly occurs as a sporadic disorder, resulting from de novo heterozygous mutations in any of the 4 genes associated with the disorder. Rauen et al. (2010) reported the first documented case of vertical transmission of CFC in a 4-generation Caucasian Cajun family. After another affected boy was born to this mother, molecular genetic testing was undertaken, and a heterozygous mutation in the MEK2 gene (P128Q; 601263.0004) was found. One of the mutation carriers died of acute lymphocytic leukemia (ALL) at age 41 years, which Rauen et al. (2010) postulated may have resulted from increased activity of the RAS pathway.
Linden and Price (2011) reported another family with autosomal dominant transmission of CFC associated with a heterozygous mutation in the MEK2 gene (G132D; 601263.0005).
In 5 of 23 CFC patients screened for BRAF (164757) mutations (22%), Rodriguez-Viciana et al. (2006) identified no BRAF mutation. Three of these individuals had missense mutations in MEK1 (176872) or MEK2 (601263), which encode downstream effectors of BRAF. Two individuals had missense mutations in MEK1 and 1 had a missense mutation in MEK2. One mutation in MEK1 was a phe53-to-ser substitution (F53S; 176872.0001); phe53 is the equivalent position to the codon changed in the MEK2 mutation, phe57 to cys (F57C; 601263.0001). Rodriguez-Viciana et al. (2006) suggested that substitutions of this residue may have similar functional consequences in the 2 family isoforms. All 3 MEK mutations were found to be more active than wildtype MEK in stimulating ERK phosphorylation.
Schulz et al. (2008) identified 2 different missense mutations in MEK2 in 3 unrelated patients with CFC. Among 51 patients with CFC, Schulz et al. (2008) identified mutations in the BRAF (47%), MAP2K1 (9.8%), MAP2K2 (5.9%), and KRAS (190070) (5.9%) genes. Careful assessment of facial features suggested that patients with MAP2K1 mutations showed macrostomia and horizontal shape of the palpebral fissures, whereas those with MAP2K2 mutations had a long, narrow face with a high forehead, low-set ears, severe ptosis, epicanthal folds, and prominent supraorbital ridges.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| CARDIOFACIOCUTANEOUS SYNDROME 4 | c1275081 | 30,624 | omim | https://www.omim.org/entry/615280 | 2019-09-22T15:52:42 | {"doid": ["0060233"], "mesh": ["C535579"], "omim": ["615280"], "orphanet": ["1340"], "genereviews": ["NBK1186"]} |
Osteoglophonic dysplasia is a condition characterized by abnormal bone growth that leads to severe head and face (craniofacial) abnormalities, dwarfism, and other features. The term osteoglophonic refers to the bones (osteo-) having distinctive hollowed out (-glophonic) areas that appear as holes on x-ray images.
Premature fusion of certain bones in the skull (craniosynostosis) typically occurs in osteoglophonic dysplasia. The craniosynostosis associated with this disorder may give the head a tall appearance, often referred to in the medical literature as a tower-shaped skull, or a relatively mild version of a deformity called a cloverleaf skull. Characteristic facial features in people with osteoglophonic dysplasia include a prominent forehead (frontal bossing), widely spaced eyes (hypertelorism), flattening of the bridge of the nose and of the middle of the face (midface hypoplasia), a large tongue (macroglossia), a protruding jaw (prognathism), and a short neck. People with this condition usually have no visible teeth because the teeth never emerge from the jaw (clinical anodontia). In addition, the gums are often overgrown (hypertrophic gingiva).
Infants with osteoglophonic dysplasia often experience failure to thrive, which means they do not gain weight and grow at the expected rate. Affected individuals have short, bowed legs and arms and are short in stature. They also have flat feet and short, broad hands and fingers.
The life expectancy of people with osteoglophonic dysplasia depends on the extent of their craniofacial abnormalities; those that obstruct the air passages and affect the mouth and teeth can lead to respiratory problems and cause difficulty with eating and drinking. Despite the skull abnormalities, intelligence is generally not affected in this disorder.
## Frequency
Osteoglophonic dysplasia is a rare disorder; its prevalence is unknown. Only about 15 cases have been reported in the medical literature.
## Causes
Osteoglophonic dysplasia is caused by mutations in the FGFR1 gene, which provides instructions for making a protein called fibroblast growth factor receptor 1. This protein is one of four fibroblast growth factor receptors, which are related proteins that bind (attach) to other proteins called fibroblast growth factors. The growth factors and their receptors are involved in important processes such as cell division, regulation of cell growth and maturation, formation of blood vessels, wound healing, and embryonic development. In particular, they play a major role in skeletal development.
The FGFR1 protein spans the cell membrane, so that one end of the protein remains inside the cell and the other end projects from the outer surface of the cell. When a fibroblast growth factor binds to the part of the FGFR1 protein outside the cell, the receptor triggers a cascade of chemical reactions inside the cell that instruct the cell to undergo certain changes, such as maturing to take on specialized functions. The FGFR1 protein is thought to play an important role in the development of the nervous system. This protein may also help regulate the growth of long bones, such as the large bones in the arms and legs.
FGFR1 gene mutations that cause osteoglophonic dysplasia change single building blocks (amino acids) in the FGFR1 protein. The altered FGFR1 protein appears to cause prolonged signaling, which promotes premature fusion of bones in the skull and disrupts the regulation of bone growth in the arms and legs.
### Learn more about the gene associated with Osteoglophonic dysplasia
* FGFR1
## Inheritance Pattern
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. However, some affected individuals inherit the mutation from an affected parent.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Osteoglophonic dysplasia | c0432283 | 30,625 | medlineplus | https://medlineplus.gov/genetics/condition/osteoglophonic-dysplasia/ | 2021-01-27T08:25:33 | {"gard": ["4142"], "mesh": ["C536050"], "omim": ["166250"], "synonyms": []} |
Callus on the forehead of some Muslims
A pilgrim with prayer bump photographed outside Masjid al-Haram.
A zebibah (Arabic: زبيبة zabība, "raisin"), also known as a zabiba or zebiba, or prayer bump, is a mark on the forehead of some Muslims, due to the friction generated by repeated contact of the forehead with the prayer rug during daily prayers. Owing to its societal significance it is also known as the devout sign.[1]
Islam requires its adherents to pray five times a day (known as salat), which involves kneeling on a prayer mat and touching the ground (or a raised piece of clay called Turbah by the Shia) with one's forehead. When done firmly for extended periods of time, a callus can develop on the forehead - the 'prayer bump' - which may be considered as a sign of piety and dedication. Some Muslims also believe that on the Day of Judgment, this bump will fluoresce with an immense white light.[2] However, "Riya" (showing-off) is prohibited in Islam; if the prayer bump may result in riya (showing-off piety), it is recommended to take precautionary measures to stop a bump forming, as worship may be deemed void due to riya. Therefore, showing-off piety should not be a reason for deliberately creating a prayer bump.
The zebibah is mentioned in the 48th Surah of the Qur'an, Surah al-Fath, in Āyah 29:
> "You see them bowing and prostrating [in prayer], seeking bounty from Allah and [His] pleasure. Their mark is on their faces from the trace of prostration."
In extreme cases, the callus can be thick enough to create a noticeable bump that protrudes from the forehead. They may also develop due to frequent prayer on hard surfaces such as stone floors (or as mentioned, on the turbah, for Shiite Muslims).
A zebibah can be a type of acanthosis nigricans, which is a sign of insulin resistance usually from type 2 diabetes. In Egypt, where zebibahs are common, the rate of diabetes was 10.2% in 2000 with a much higher incidence rate within certain groups such as women aged between 45–64 years old (21.9%). Additionally, it was estimated that up to 56% of men and 64% of women are clinically obese; many of these can be pre-diabetic.[3]
## In popular culture[edit]
* Paul Theroux mentions dealing with a Sudanese official with a prayer bump in his book Dark Star Safari.
* In Salman Rushdie's novel Shame, set in Pakistan, the prayer bump is referred to as a "gatta, the bruise of devotion" found on the foreheads of several devout characters.[4]
* The mark is referenced in the Sufi Qawwali song, "Chhaap Tilak Sab Cheeni", popular in India and Pakistan.
## References[edit]
1. ^ Bhargava R & Bhargava M (12 March 2018). "Devout Sign (Prayer Mark)". Austin Publications LLC.
2. ^ Magdi Abdelhadi (23 June 2008). "Signs of division on Egypt's brow". BBC News. Retrieved 2011-01-10.
3. ^ Diabetes mellitus in Egypt: risk factors, prevalence and future burden
4. ^ Rushdie, Salman (31 December 2010). Shame. ISBN 9780307367778. Retrieved 11 February 2016.
## External links[edit]
* Reference to a prayer bump in 'Men, Women and God(s)'
* Mention of a prayer scar in Middle East Report
* Mention of a prayer scar in Occupation Magazine
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Prayer bump | None | 30,626 | wikipedia | https://en.wikipedia.org/wiki/Prayer_bump | 2021-01-18T18:58:07 | {"wikidata": ["Q1131143"]} |
A number sign (#) is used with this entry because of evidence that susceptibility to hypogonadotropic hypogonadism-15 with or without anosmia (HH15) can be conferred by variation in the HS6ST1 gene (604846) on chromosome 2q14, sometimes in association with mutations in other genes, e.g., FGFR1 (136350) and NELF (608137).
Description
Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'
For a discussion of the genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see 147950.
Molecular Genetics
Tornberg et al. (2011) sequenced the coding exons and flanking splice sites of the candidate gene HS6ST1 (604846) in genomic DNA from 338 GnRH (GNRH1; 152760)-deficient patients, 271 males and 67 females, including 105 familial cases. They identified 5 heterozygous missense mutations in the HS6ST1 gene in 7 probands, 5 with anosmia and 2 with normosmia (604846.0001-604846.0005). All of the HS6ST1 variants affected highly conserved residues, exhibited reduced activity compared to wildtype, and were not found in 500 controls or the SNP database. A wide spectrum of severity and timing of onset of GnRH deficiency was observed in the patients, and clinical variability was evident both within and across families carrying the same genetic variant. One patient exhibited reversal of GnRH deficiency, with normal adult serum testosterone level and normal sperm count after discontinuation of replacement therapy; 14 years later, repeat neuroendocrine evaluation confirmed a sustained reversal of his GnRH deficiency. To test whether other genetic factors were contributing to the observed variability, Tornberg et al. (2011) analyzed 8 additional HH-associated genes and identified heterozygous variants in the FGFR1 gene (136350.0025) and in the NELF gene (608137.0001) in 2 of the HH families, respectively. Noting that HS6ST1-associated HH segregates as a complex trait with inheritance patterns that likely result from oligogenic interactions, the authors concluded that the identified HS6ST1 missense mutations might not be sufficient to cause disease, and suggested that HS6ST1 represents an important gene contributing pathogenic alleles to the genetic network responsible for the neuroendocrine control of human reproduction.
In a large consanguineous 10-generation French Canadian family with anosmic HH and cleft palate in which Tornberg et al. (2011) had identified mutations in both the HS6ST1 (604846.0002) and FGFR1 (136350.0025) genes, Miraoui et al. (2013) analyzed 7 genes involved in the FGF8 (600483)-FGFR1 (136350) network and identified additional mutations in 2 more genes, FGF17 (603725.0001) and FLRT3 (604808.0001 and 604808.0002). Miraoui et al. (2013) concluded that mutations in genes encoding components of the FGF pathway are associated with complex modes of CHH inheritance and act primarily as contributors to an oligogenic genetic architecture underlying CHH.
INHERITANCE \- Autosomal dominant HEAD & NECK Nose \- Hyposmia/anosmia (in some patients) Mouth \- Cleft palate (in some patients) CHEST Breasts \- Delayed or absent thelarche GENITOURINARY \- Delayed or absent puberty External Genitalia (Male) \- Micropenis \- Small testes \- Cryptorchidism Internal Genitalia (Female) \- Primary amenorrhea SKELETAL \- Osteopenia or osteoporosis (in some patients) Limbs \- Genu valgus, bilateral (in some patients) NEUROLOGIC Central Nervous System \- Hyposmia/anosmia (in some patients) \- Small pituitary gland (in some patients) ENDOCRINE FEATURES \- Normal pituitary function \- Delayed or absent puberty \- Lack of LH pulsatility \- Low serum testosterone in males \- Low serum estradiol in females \- Low to normal serum gonadotropins MISCELLANEOUS \- Spontaneous reversal of GnRH deficiency may occur in some patients \- Phenotypic variability within families and among patients carrying the same mutation \- Oligogenic disorder in some patients who carry mutations in more than one neuroendocrine-related gene MOLECULAR BASIS \- Caused by mutation in the heparan sulfate 6-O-sulfotransferase-1 gene (HS6ST1, 604846.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA | c0162809 | 30,627 | omim | https://www.omim.org/entry/614880 | 2019-09-22T15:53:50 | {"doid": ["0090075"], "mesh": ["D017436"], "omim": ["614880"], "orphanet": ["432", "478"], "synonyms": ["Gonadotropic deficiency", "Isolated congenital gonadotropin deficiency", "Normosmic idiopathic hypogonadotropic hypogonadism", "nIHH"], "genereviews": ["NBK1334"]} |
## Summary
### Clinical characteristics.
Junctional epidermolysis bullosa (JEB) is characterized by fragility of the skin and mucous membranes, manifest by blistering with little or no trauma. Blistering may be severe and granulation tissue can form on the skin around the oral and nasal cavities, fingers and toes, and internally around the upper airway. Blisters generally heal with no significant scarring. Broad classification of JEB includes JEB generalized severe and JEB generalized intermediate. In JEB generalized severe, blisters are present at birth or become apparent in the neonatal period. Congenital malformations of the urinary tract and bladder may also occur. In JEB generalized intermediate, the phenotype may be mild with blistering localized to hands, feet, knees, and elbows with or without renal or ureteral involvement. Some individuals never blister after the newborn period. Additional features shared by JEB and the other major forms of epidermolysis bullosa (EB) include congenital localized absence of skin (aplasia cutis congenita), milia, nail dystrophy, scarring alopecia, hypotrichosis, pseudosyndactyly, and other contractures.
### Diagnosis/testing.
The diagnosis of JEB is established in a proband with characteristic clinical findings by molecular genetic testing that identifies biallelic pathogenic variants in one of the genes associated with JEB: COL17A1, ITGB4, LAMA3, LAMB3, or LAMC2. Skin biopsy using transmission electron microscopy (TEM) and/or immunofluorescent antibody/antigen mapping can be performed but is no longer the preferred method of diagnosis.
### Management.
Treatment of manifestations: Lance and drain new blisters and dress with three layers (primary: non-adherent; secondary: for stability and protection; third: elastic properties to ensure integrity); protect skin from shearing forces; teach caretakers proper handling of infants and children; treatment of granulation tissue with high-potency topical steroids, silver nitrate, electrocautery, or autologous skin grafts; antibiotics and antiseptics as needed for wound care and infection; dilation of esophageal strictures (rare); tracheostomy if appropriate; gastrostomy tube if needed; standard treatment of gastroesophageal disease; appropriate footwear and physical therapy to promote/preserve ambulation; psychosocial support, including social services and psychological counseling; appropriate management of chronic pain; regular dental care; treatment of urologic and renal disease using standard treatments.
Prevention of secondary complications: Attention to fluid and electrolyte balance in severely affected infants (especially sodium levels); nutritional support including feeding gastrostomy when necessary; calcium, vitamin D, zinc, and iron supplements.
Surveillance: Annual screening for iron-deficiency anemia, zinc deficiency, vitamin D deficiency; periodic bone mineral density scanning for osteopenia and/or osteoporosis; periodic echocardiograms to evaluate for dilated cardiomyopathy; in the second decade of life, surveillance for squamous cell carcinoma is appropriate.
Agents/circumstances to avoid: Ordinary medical tape or Band-Aids®, poorly fitting or coarse-textured clothing and footwear, activities that can traumatize the skin (e.g., hiking, mountain biking, contact sports).
Pregnancy management: Consider cesarean section delivery to reduce trauma to the skin of an affected fetus.
### Genetic counseling.
JEB is inherited in an autosomal recessive manner. The parents of an affected child are usually obligate heterozygotes (i.e., carriers). Because germline mosaicism and uniparental isodisomy have been reported, carrier status of parents needs to be confirmed with molecular genetic testing. At conception, each sib of an affected individual whose parents are both carriers has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. The offspring of an individual with autosomal recessive JEB are obligate heterozygotes (carriers) for a pathogenic variant. Carrier testing for family members at increased risk and prenatal testing for a pregnancy at increased risk are possible if both pathogenic variants have been identified in the family.
## Diagnosis
### Suggestive Findings
Junctional epidermolysis bullosa (JEB) should be suspected in individuals who have fragility of the skin with:
* Blistering with little or no trauma. Blistering may be mild or severe; however, blisters generally heal with no significant scarring.
* Significant oral and mucous membrane involvement
Note: Blistering may be severe and granulation tissue can form on the skin around the oral and nasal cavities, fingers and toes, and internally in and around the upper airway and the trachea (see Figure 1, Figure 2).
#### Figure 1.
JEB generalized severe a. Extensive widespread blistering and granulation tissue on ear
#### Figure 2.
JEB generalized intermediate e. Minor nail dystrophy in an older child
### Establishing the Diagnosis
The diagnosis of JEB is established in a proband with one or both of the following:
* Identification by molecular genetic testing of biallelic pathogenic variants in one of the genes listed in Table 1
* Skin biopsy using transmission electron microscopy (TEM) and/or immunofluorescent antibody/antigen mapping (see Skin Biopsy)
Note: Genetic testing is the preferred diagnostic method. Skin biopsy for diagnostic purposes is no longer routinely performed unless molecular genetic testing is not conclusive.
#### Molecular Genetic Testing
Molecular genetic testing approaches can include a combination of gene-targeted testing (multigene panel, targeted molecular genetic testing) and comprehensive genomic testing (exome sequencing, genome sequencing, exome array) depending on the phenotype.
Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas genomic testing does not. Because the phenotype of junctional epidermolysis bullosa is broad, individuals with the distinctive findings described in Suggestive Findings are likely to be diagnosed using gene-targeted testing (see Option 1), whereas those with a phenotype indistinguishable from many other inherited disorders with fragile skin and blistering, or presenting in the neonatal period before significant sequelae such as exuberant granulomatous tissue has developed, are more likely to be diagnosed using genomic testing (see Option 2).
Option 1
When the phenotypic and laboratory findings suggest the diagnosis of junctional epidermolysis bullosa, molecular genetic testing approaches can include use of a multigene panel or targeted molecular testing [Lucky et al 2018].
A junctional epidermolysis bullosa multigene panel that includes COL17A1, ITGB4, LAMB3, LAMA3, LAMC2, and other genes of interest (see Differential Diagnosis) is most likely to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests. For this disorder a multigene panel that also includes deletion/duplication analysis is recommended (see Table 1).
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
Option 2
When the phenotype is indistinguishable from many other inherited disorders characterized by skin fragility and blistering, comprehensive genomic testing (which does not require the clinician to determine which gene[s] are likely involved) is the best option. Exome sequencing is most commonly used; genome sequencing is also possible.
Exome array (when clinically available) may be considered if exome sequencing is not diagnostic.
For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.
### Table 1.
Molecular Genetic Testing Used in Junctional Epidermolysis Bullosa
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Gene 1, 2Proportion of JEB Attributed to Pathogenic Variants in GeneProportion of Pathogenic Variants 3 Detectable by Method
Sequence analysis 4Gene-targeted deletion/duplication analysis 5
COL17A112%>98%<2% 6
ITGB4<1% 7~100%<1%
LAMA39%>98% 8<1% 6
LAMB370%>98%<2% 9
LAMC29%>98%<2% 6
1\.
Genes are listed in alphabetic order.
2\.
See Table A. Genes and Databases for chromosome locus and protein.
3\.
See Molecular Genetics for information on allelic variants detected in this gene.
4\.
Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.
5\.
Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.
6\.
Pulkkinen et al [1997a], Takizawa et al [2000b], Fassihi et al [2005], Varki et al [2006]
7\.
Biallelic pathogenic variants in ITGB4 are a rare cause of JEB [Author, personal communication].
8\.
Care must be taken to sequence the genomic region of the longest transcript of LAMA3 (NM_198129.2) rather than one of the shorter transcript variants.
9\.
Pulkkinen et al [1995], Cserhalmi-Friedman et al [1998], Takizawa et al [2000b], Huber et al [2002], Micheloni et al [2004], Posteraro et al [2004]
#### Skin Biopsy
Examination of a skin biopsy by (1) transmission electron microscopy (TEM) and/or (2) immunofluorescent antibody/antigen mapping is sometimes performed to establish the diagnosis of JEB.
A punch biopsy that includes the full basement membrane zone is preferred. The biopsy should be taken from the leading edge of a fresh (<12 hours old) blister or from a mechanically induced blister and should include some normal adjacent skin. (Older blisters undergo change that may obscure the diagnostic morphology and can be misleading.)
Note:
* For TEM
* Specimens must be placed in fixation medium (e.g., gluteraldehyde) as designated by the laboratory performing the test.
* Formaldehyde-fixed samples cannot be used for electron microscopy.
* For immunofluorescent antibody/antigen mapping
* Specimens should be sent in sterile carrying medium (e.g., Michel's or Zeus's) as specified by the laboratory performing the test.
* Some laboratories prefer flash-frozen tissue.
* In some laboratories the mapping only designates the level of the cleavage by using various marker antibodies of different layers of the basement membrane. A laboratory that has antigens for the proteins of interest in EB is preferred because both the level of cleavage and the presence or absence of the specific gene products mutated in EB can be assessed.
* Light microscopy is inadequate and unacceptable for the accurate diagnosis of any subtypes of EB.
Transmission electron microscopy (TEM) is used to examine the number and morphology of basement membrane zone structures – in particular: the number and morphology of anchoring fibrils; the presence of and morphology of hemidesmosomes, anchoring filaments, and keratin intermediate filaments; and the presence of microvesicles showing the tissue cleavage plane.
Findings on TEM in JEB include the following [Shinkuma et al 2011]:
* All forms of JEB. Splitting is seen in the lamina lucida of the basement membrane of the epidermis or just above the basement membrane at the level of the hemidesmosomes in the lowest level of the keratinocytes layer.
* JEB generalized severe. Hemidesmosomes are hypoplastic and reduced in number. Anchoring filaments are markedly reduced or absent.
* JEB generalized intermediate. Anchoring filaments may be reduced; hemidesmosomes may be reduced or hypoplastic.
Immunofluorescent antibody/antigen mapping. Findings include the following:
* Abnormal or absent staining with antibodies to laminin 332 (aka LAM5) [Aumailley et al 2005] resulting from pathogenic variants in LAMA3, LAMB3, or LAMC2 in JEB generalized severe or JEB generalized intermediate
* Abnormal or absent staining with antibodies to collagen XVII in JEB caused by pathogenic variants in COL17A1
Normal staining for other antigens (e.g., collagen VII, keratins 5 and 14) confirms the diagnosis of JEB.
Note: Especially in milder forms of EB, indirect immunofluorescent studies are often not sufficient to make the diagnosis because near-normal antigen levels are detected and no cleavage plane is observed. In these cases electron microscopic examination of the skin biopsy must be performed.
## Clinical Characteristics
### Clinical Description
Junctional epidermolysis bullosa (JEB) is characterized by fragility of the skin and mucous membranes, manifest by blistering with little or no trauma. Broad classification of JEB includes JEB generalized severe and JEB generalized intermediate and is based on severity and survival past the first years of life [Yuen et al 2013, Kelly-Mancuso et al 2014].
JEB generalized severe (previously called JEB Herlitz). Severe blistering is present at birth or becomes apparent in the neonatal period and may lead to large regions of affected skin with significant granulation tissue. Granulation tissue characteristically appears around the nose, mouth, ears, and tips of the fingers and toes as well as in areas subject to friction such as the buttocks and the back of the head. Persistent plaques on the face can be challenging to treat. The granulation tissue manifests as large eroded patches and plaques often with serpiginous or annular borders that are friable and bleed easily and profusely. There can be extensive loss of blood, fluid, and protein. Such erosions are often life threatening because they make these infants susceptible to electrolyte imbalance and infection including sepsis and sudden death. If the infant survives, blistering may continue throughout life, generally without scarring unless there has been severe secondary infection. Scarring pseudosyndactyly of the hands and feet fusing the digits into "mitten" hands and feet with severe loss of function has been seen in some of the individuals with JEB generalized severe who survive [Fine et al 1999]. In one series, 73% of 71 children born in a five-year period died at an average age of five months [Kelly-Mancuso et al 2014].
In addition to cutaneous involvement, mucosal involvement of the mouth, upper respiratory tract, esophagus, bladder, urethra, and corneas can be seen. Amelogenesis imperfecta with pitting of tooth enamel is common. Accumulation of granulation tissue surrounding the airway is usually subglottic and the first manifestation is a weak, hoarse cry. Eventually, compression and obstruction of the airway result in stridor and respiratory distress. Unless tracheostomy is performed, many children succumb from respiratory complications. However, managing a tracheostomy in a child with such fragile skin is difficult [Ida et al 2012].
Bladder and urethral epithelial involvement can cause dysuria, urinary retention, urinary tract infections, and eventual renal compromise. Renal and ureteral anomalies that can be seen include dysplastic/multicystic kidney, hydronephrosis/hydroureter, acute renal tubular necrosis, obstructive uropathy, ureterocele, duplicated renal collecting system, and absent bladder [Puvabanditsin et al 1997, Kambham et al 2000, Nakano et al 2000, Wallerstein et al 2000, Fine et al 2004, Varki et al 2006, Pfendner et al 2007].
Esophageal narrowing has been reported, but is less common than in children with autosomal recessive dystrophic EB.
Secondary complications common in JEB generalized severe include malnutrition and growth retardation, anemia, alopecia, cutaneous infection, sepsis, electrolyte imbalance, osteoporosis [Fewtrell et al 2006], dilated cardiomyopathy, squamous cell carcinoma [Yuen & Jonkman 2011], and dental enamel dysplasia with pitting [Krämer 2010, Stellingsma et al 2011].
Most children with JEB generalized severe do not survive past the first year of life.
JEB generalized intermediate (previously called JEB non-Herlitz) includes a spectrum of less severe clinical phenotypes than JEB generalized severe. The phenotype may be mild with blistering localized to hands, feet, knees, and elbows with or without renal, ureteral, or esophageal involvement; or relatively more widespread including flexural areas and trunk. Some children virtually never blister after the newborn period. The severe granulation tissue and respiratory compromise seen in individuals with JEB generalized severe are rare.
Varying degrees of alopecia and onychodystrophy as well as dental enamel pitting remain hallmarks of this type of JEB.
Additional manifestations of JEB generalized severe and JEB generalized intermediate include:
* Congenital localized absence of skin (aplasia cutis congenita)
* Exuberant granulation tissue
* Nail dystrophy
* Scarring alopecia
* Squamous cell carcinoma in individuals with JEB generalized intermediate [Montaudié et al 2016]
* Pseudosyndactyly and other contractures. Pseudosyndactyly is defined as the partial or complete loss of web spaces between any digits of the hands or feet (rare).
* Milia (rare)
* Scarring (rare)
### Genotype-Phenotype Correlations
JEB generalized severe is the result of inactivating pathogenic variants on both alleles, which result in little or no functional protein [Varki et al 2006]. For frameshift variants, the severity may be related to where the stop codon is located and whether any functional (although truncated) protein is formed; the presence of some functional protein appears to be the most important factor in mitigating disease severity [Kiritsi et al 2013].
JEB generalized intermediate generally results from amino acid substitutions and splice-junction variants, although it is difficult to generalize because of the wide phenotypic variability and range of allelic variants that have been identified [Varki et al 2006]. In addition, moderation of phenotypes expected to be severe has occurred through in-frame skipping of exons containing nonsense or frameshift variants [McGrath et al 1999, Kowalewski et al 2016].
### Nomenclature
### Table 2.
Junctional Epidermolysis Bullosa Nomenclature
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Current Nomenclature2008 Nomenclature2013 "Onion Skin"
NomenclatureOther Specific JEB Designations
Used in the Past
JEB SubtypeAbbreviation
GeneralizedJEB, generalized severeJEB-gen sevHerlitz JEB
(H-JEB)JEB generalized severe, laminin-332 absent, LAMA3, LAMB3, or LAMC2 pathogenic variants (specify type)
* Epidermolysis bullosa letalis
* Epidermolysis bullosa junctional Herlitz-Pearson
* Junctional epidermolysis bullosa mitis
JEB, generalized intermediateJEB-gen intermedNon-Herlitz JEB
(NH-JEB)JEB generalized intermediate, laminin-332 or collagen XVII reduced staining, LAMA3, LAMB3, LAMC2, or COL17A1 pathogenic (specify type)
* Epidermolysis bullosa, generalized atrophic benign (GABEB)
* Epidermolysis bullosa junctionalis, disentis type
* Epidermolysis bullosa junctionalis, progressive
* Epidermolysis bullosa junctionalis, severe non-lethal
JEB with pyloric atresiaJEB-PA
JEB-late onsetJEB-LO
JEB with respiratory and renal involvementJEB-RR
LocalizedJEB, localizedJEB-loc
JEB, inversaJEB-inv; JEB-I
JEB-LOC syndrome
Adapted from Fine et al [2014]
JEB = junctional epidermolysis bullosa
### Prevalence
According to the National EB Registry, prevalence of all types of JEB is 0.44 per million in the US population [Fine et al 1999]. Recent data estimate the incidence of JEB at between 3.59 and 6.7 per million per year with a 73% mortality rate [Kelly-Mancuso et al 2014, Hammersen et al 2016].
* The prevalence of JEB generalized severe is estimated at 0.4 per million but may be underrepresented. JEB generalized severe incidence is also very low (0.41 per million), but is probably underestimated: many individuals with JEB generalized severe go unreported because infants succumb to the disease in the neonatal period (a mortality rate of 73% in infancy has been reported) [Kelly-Mancuso et al 2014].
* JEB generalized intermediate incidence is 2.0 per million.
* Carrier risk of all forms of JEB in the US population has been calculated as 1:270 [Author, personal communication].
* Carrier risk of JEB generalized severe has been calculated as 1:781 [Nakano et al 2000, Pfendner et al 2001].
## Differential Diagnosis
Epidermolysis bullosa (EB). According to the 2014 classification system, the four major types of EB, caused by pathogenic variants in 18 different genes, are EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), and Kindler syndrome (KS) [Fine et al 2014]. Classification into major type is based on the location of blistering in relation to the dermal-epidermal junction of skin. Subtypes are predominantly determined by clinical features and supported by molecular diagnosis.
The four major types of EB share easy fragility of the skin (and mucosa in many cases), manifested by blistering with little or no trauma. Although clinical examination is useful in determining the extent of blistering and the presence of oral and other mucous membrane lesions, defining characteristics such as the presence and extent of scarring – especially in young children and neonates ‒ may not be established or significant enough to allow identification of EB type; thus, molecular genetic testing (or less commonly skin biopsy) is usually required to establish the most precise diagnosis. The ability to induce blisters with friction (although the amount of friction can vary) and to enlarge blisters by applying pressure to the blister edge is common to all; mucosal and nail involvement and the presence or absence of milia may not be helpful discriminators.
Post-inflammatory changes, such as those seen in generalized severe EBS (EBS-gen sev), are often mistaken for scarring or mottled pigmentation. Scarring can occur in EBS and JEB as a result of infection of erosions or scratching, which further damage the exposed surface. Congenital absence of the skin can be seen in any of the four major types of EB and is not a discriminating diagnostic feature.
Corneal erosions, esophageal strictures, and nail involvement may indicate either DEB or JEB. In milder presentations, scarring (especially of the dorsal hands and feet) suggests DEB. Pseudosyndactyly (mitten deformities) resulting from scarring of the hands and feet in older children and adults usually suggests DEB.
Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin that results in nonscarring blisters caused by little or no trauma. The four most common clinical subtypes of EBS range from relatively mild blistering of the hands and feet to more generalized blistering, which can be fatal. The majority of individuals with EBS have heterozygous (or rarely biallelic) pathogenic variants in KRT5 or KRT14. More recently, variants in EXPH5, TGM5, DST, ITGA3, KLHL24, and CD151 have been described.
* In EBS, localized (EBS-loc; previously known as Weber-Cockayne type), blisters are rarely present at birth and may occur on the knees and shins with crawling or on the feet at approximately age 18 months; some individuals manifest the disease in adolescence or early adulthood. Blisters are usually confined to the hands and feet, but can occur anywhere if trauma is significant.
* In EBS, generalized intermediate (EBS-gen intermed; previously known as Koebner type), blisters may be present at birth or develop within the first few months of life. Involvement is more widespread than in EBS-loc, but generally milder than in EBS-gen sev.
* In EBS with mottled pigmentation type (EBS-MP), skin fragility is evident at birth and clinically indistinguishable from EBS-gen sev; over time, progressive brown pigmentation interspersed with depigmented spots develops on the trunk and extremities, the pigmentation disappearing in adult life. Focal palmar and plantar hyperkeratoses may occur.
* In EBS, generalized severe (EBS-gen sev; previously known as Dowling-Meara type), onset is usually at birth; severity varies greatly, both within and among families. Widespread and severe blistering and/or multiple grouped clumps of small blisters are typical and hemorrhagic blisters are common. Improvement occurs during mid- to late childhood. Progressive hyperkeratosis of the palms and soles begins in childhood and may be the major complaint of affected individuals in adult life. Nail dystrophy and milia are common. Both hyperpigmentation and hypopigmentation can occur. Mucosal involvement in EBS-gen sev may interfere with feeding. Blistering can be severe enough to result in neonatal or infant death.
EB caused by pathogenic variants in PLEC (OMIM 601282) can vary from relatively mild, previously known as the Ogna form, to more severe and sometimes lethal. Up to 8% of EBS may be caused by PLEC pathogenic variants. In most individuals with PLEC pathogenic variants, the associated phenotypes (i.e., EB with muscular dystrophy [EB-MD], EB with pyloric atresia [EB-PA]) are more complex:
* EB-MD (OMIM 226670). More than 50 individuals with EB-MD have been reported worldwide. Blistering occurs early and is generally mild. Muscular dystrophy may not appear until later childhood, adolescence, or adulthood, and can cause immobility and eventually death later in life. Pathogenic variants have been described throughout PLEC but seem to cluster in the two long open reading frames containing exons in the 3' end of the gene. Nonsense, missense, insertion/deletion, and splice-junction variants have been described. The mildest phenotypes are usually associated with in-frame insertions or deletions, which do not alter the reading frame of the microRNA (mRNA). Inheritance is autosomal recessive.
* EB-PA. In several US and Japanese families, EB-PA is associated with premature termination variants in PLEC. EB-PA is more commonly associated with ITGB4 pathogenic variants, and rarely ITGA6 pathogenic variants. Although disease course is severe and often lethal in the neonatal period, non-lethal forms have been described. Individuals with pathogenic variants in ITGB4 or ITGA6 may also have renal and ureteral anomalies, including dysplastic/multicystic kidney, hydronephrosis/hydroureter, acute renal tubular necrosis, obstructive uropathy, ureterocele, duplicated renal collecting system, and absent bladder. Occasionally, pyloric atresia may be suspected during gestation as a result of oligohydramnios, with or without elevated alpha-fetoprotein and acetylcholinesterase levels, and echogenic material in the amniotic fluid.
Dystrophic EB (DEB). The blister forms below the basement membrane, in the superficial dermis. The basement membrane is attached to the blister roof, resulting in scarring when blisters heal. Pathogenic variants in COL7A1, the gene encoding type VII collagen, have been demonstrated in all forms of DEB, both dominant and recessive.
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with junctional epidermolysis bullosa (JEB), the following evaluations (if not performed as part of the evaluation that led to the diagnosis) are recommended:
* Evaluation of the sites of blister formation, including mouth, esophagus, and airway in a child with progressive hoarseness or stridor
* Direct examination of the airway by an experienced otolaryngologist with appropriately small and lubricated instruments to determine the extent of airway compromise so that decisions regarding tracheostomy can be discussed with the family
* Evaluation for gastroesophageal reflux disease, which may cause additional trauma to the upper airway [Ida et al 2012]
* Evaluation for existing osteopenia through skeletal radiographs or DEXA scan
* Evaluation for cardiomyopathy by clinical evaluation and/or echocardiogram [Fine et all 2008]
* Measurements of hemoglobin and electrolytes to evaluate for anemia and electrolyte imbalance
* Skin bacterial cultures and blood cultures in clinically ill infants to decide appropriate antibiotic treatment
* Consultation with a clinical geneticist and/or genetic counselor
Note: Clinical decision making in children who manifest sign and symptoms of severe JEB with a very poor prognosis has been debated and remains difficult [Hammersen et al 2016].
### Treatment of Manifestations
Skin. The skin needs to be protected from shearing forces and caretakers need to learn how to handle the child with EB [Denyer 2010, Pope et al 2012].
New blisters should be lanced and drained to prevent further spread from fluid pressure. In most cases, dressings for blisters involve three layers:
* A primary non-adherent dressing that does not strip the top layers of the epidermis. Tolerance to different primary layers varies. Primary layers include the following:
* Ordinary Band-Aids®
* Dressings impregnated with an emollient such as petrolatum or topical antiseptic (e.g., Vaseline® gauze, Adaptic®, Xeroform®)
* Nonstick products (e.g., Telfa®, N-terface®)
* Silicone-based products without adhesive (e.g., Mepitel®, Mepilex®)
* A secondary layer that provides stability for the primary layer and adds padding to allow more activity. Rolls of gauze (e.g., Conform® , Flexicon®) are commonly used.
* A tertiary layer that usually has some elastic properties and ensures the integrity of the dressing (e.g., Coban® or elasticized tube gauze of varying diameters such as Band Net® or Tubifast®)
Treatment of granulation tissue can be attempted with high-potency topical steroids, silver nitrate, electrocautery, or autologous skin grafts.
Other. The most common secondary complication in individuals with JEB is infection. In addition to wound care, treatment of chronic infection of wounds is a challenge. Many affected individuals become infected with resistant bacteria, most often methicillin-resistant Staphylococcus aureus (MRSA) and Pseudomonas aeruginosa. Both antibiotics and antiseptics need to be employed.
Esophageal strictures and webs can be dilated repeatedly to improve swallowing [Azizkhan et al 2007].
A hoarse cry in an infant should alert to the possibility of airway obstruction with granulation tissue or other upper airway abnormalities. Decisions about tracheostomy should involve the family and take into consideration the medical condition of the infant. Because of the poor prognosis and severe pain and discomfort experienced by these infants, discussions with the family and a hospital ethics committee often help to determine the type of intervention and comfort care to provide [Yan et al 2007, Ida et al 2012].
Gastroesophageal reflux disease, when present, should be treated as in the general population.
Some children have delays or difficulty walking because of blistering and hyperkeratosis. Appropriate footwear and physical therapy are essential to preserve ambulation.
Psychosocial support, including social services and psychological counseling, is essential [Lucky et al 2007].
Pain management becomes an important part of daily care [Goldschneider et al 2014]. In those with difficult-to-control pain, referral to a pain management specialist can be considered.
Dental care is necessary because of inherent enamel abnormalities [Kirkham et al 2000, Krämer et al 2012].
Urologic and renal problems may be serious in this population [Kajbafzadeh et al 2010]. For those affected individuals who survive, referral to a urologist may be considered.
### Prevention of Secondary Complications
The following are indicated:
* Management of fluid and electrolyte deficiencies in the neonatal period and in infants with widespread disease
* Nutritional support including a feeding gastrostomy tube for infants and children with inadequate caloric intake and failure to thrive
* Calcium and vitamin D replacement for osteopenia and osteoporosis
* Zinc supplementation for wound healing
* Treatment of iron-deficiency anemia with oral or intravenous iron infusions and red blood cell transfusions
### Surveillance
Surveillance includes the following:
* Annual complete blood counts and measurement of serum iron concentration to screen for iron-deficiency anemia
* Annual measurement of serum zinc concentration to screen for zinc deficiency
* Annual measurement of serum vitamin D
* Screening with bone mineral density scanning may detect early osteopenia and/or osteoporosis. No guidelines have been established regarding the age at which this should be initiated.
* Screening for dilated cardiomyopathy with periodic echocardiograms [Lara-Corrales et al 2010]
* Skin examination starting in the second decade of life for wounds that do not heal, have exuberant scar tissue, or otherwise look abnormal to screen for squamous cell carcinoma. Frequent biopsies of suspicious lesions followed by local excision may be necessary.
### Agents/Circumstances to Avoid
Most persons with JEB cannot use ordinary medical tape or Band-Aids®. Silicone-based products provide a good substitute for tape.
Poorly fitting or coarse-textured clothing and footwear can cause trauma.
Activities such as hiking, mountain biking, and contact sports traumatize the skin; affected individuals who are determined to participate in such activities should be encouraged to find creative ways to protect their skin.
### Evaluation of Relatives at Risk
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Pregnancy Management
Cesarean section may be recommended to reduce trauma to the skin of an affected fetus during delivery.
### Therapies Under Investigation
Several approaches to gene therapy for JEB, focused on retroviral modification of in vitro epidermal cells, have been proposed [Robbins et al 2001, Ortiz-Urda et al 2003]. One successful clinical trial has been conducted using transplantation of sheets of genetically modified epidermal stem cells in one affected individual with biallelic LAMB3 pathogenic variants [Mavilio et al 2006, Di Nunzio et al 2008, De Rosa et al 2013]. Animal models include intra-amniotic prenatal laminin 332 delivery in mouse [Mühle et al 2006, Endo et al 2012] and a spontaneous form of JEB in dog [Capt et al 2005, Spirito et al 2006].
The use of a variety of viral vectors, including AAV [Melo et al 2014], lentivirus [Endo et al 2012], and retroviruses [Mavilio et al 2006, De Rosa et al 2013], is being explored to correct the pathogenic variants in cells cultured from individuals with JEB in preparation for transplantation back onto severely affected sites, and shows promise for future clinical trials. In an expedited trial in a single individual, retroviral mediated correction of autologous skin keratinocytes transplanted back onto affected sites also led to stem cell correction and the formation of a self-renewing keratinocyte population and replacement of mutated keratinocytes, leading to whole-body correction of the JEB phenotype [Hirsch et al 2017].
Natural gene therapy is being investigated using autologous revertant cells cultured from patches of non-blistering skin [Gostyński et al 2014], and the pluripotent stem cells that can be generated from these revertant cells [Umegaki-Arao et al 2014].
The knockout mouse model for all JEB-related genes should facilitate the development of these therapeutic approaches [Jiang & Uitto 2005, Bubier et al 2010, Hammersen et al 2015]. Large animal models, such as dog and horse, have also been described [Nagata et al 1997, Spirito et al 2002, Capt et al 2005, Spirito et al 2006, Pertica et al 2010]. Animal models that have been used to study EB were reviewed in Natsuga et al [2010].
Induced pleuripotent stem cells (IPS) are being studied in several laboratories around the world to address the treatment of JEB and other types of EB [Osborn et al 2013, Tolar et al 2013].
Protein replacement therapy with LAMB3 has been studied in vitro [Igoucheva et al 2008] with promising results.
The use of gentamicin as a chemical agent to induce read-through of pathogenic premature termination codons in keratinocytes containing expression vectors with various nonsense variants has also been explored and has shown promising results in cell cultures, but has not yet been demonstrated in individuals with JEB [Lincoln et al 2018].
Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for information on clinical studies for a wide range of diseases and conditions.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Junctional Epidermolysis Bullosa | c0079301 | 30,628 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1125/ | 2021-01-18T21:16:54 | {"mesh": ["D016109"], "synonyms": []} |
This syndrome is characterised by progressive spastic paraplegia and distal muscle wasting.
## Epidemiology
So far, it has been described in two families.
## Etiology
All affected individuals carried mutations in the neuropathy target esterase (NTE) gene, encoding a neural membrane protein.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Autosomal recessive spastic paraplegia type 39 | c2677586 | 30,629 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=139480 | 2021-01-23T17:02:59 | {"gard": ["4924"], "mesh": ["C567433"], "omim": ["612020"], "umls": ["C2677586"], "icd-10": ["G11.4"], "synonyms": ["SPG39", "Spastic paraplegia due to NTE mutation", "Spastic paraplegia due to neuropathy target esterase mutation"]} |
Little League Elbow
Repetitive overhead throwing motions, like those in baseball, can lead to this medical condition.
Little League elbow is a condition that is caused by repetitive throwing motions, especially in children who play sports that involve an overhand throw. "Little Leaguer's elbow" was coined by Brogdon and Crow in an eponymous 1960 article in the American Journal of Radiology.[1]
The name of the condition is derived from the game of baseball. Compared to athletes who play other sports, baseball players are at higher risk of overuse injuries and injuries caused by early sports specialization by children and teenagers.[2]
Little League elbow is most often seen in young pitchers under the age of sixteen. The pitching motion causes a valgus stress to be placed on the elbow joint which can cause damage to the structures of the elbow, resulting in an avulsion of the medial epiphyseal plate (growth plate).[citation needed]
The first diagnosis of the injury in 1960 set off a firestorm of controversy regarding how much youth baseball players can and should be asked to pitch. The ailment even appeared in the comic strip Peanuts in 1963 when Charlie Brown received a diagnosis.[3] In 2007, in order to protect against overuse injuries, Little League Baseball began limiting the number of pitches a player could throw per day.[4]
Adult pitchers do not experience the same injury because they do not have an open growth plate in the elbow. Instead, in adult athletes a more common injury is to the ulnar collateral ligament of the elbow, an injury that often requires Tommy John surgery in order for the athlete to resume high-level competitive throwing.[citation needed]
## See also[edit]
* Tennis elbow
* Golfer's elbow
* Repetitive strain injury
* Radial tunnel syndrome
* Panner disease
## References[edit]
1. ^ Awh, M.D., Mark H. "MRI Web Clinic — May 2005: Little League Elbow". Radsource. Retrieved 21 April 2015.
2. ^ Feeley, Brian T.; Agel, Julie; LaPrade, Robert F. (January 2016). "When Is It Too Early for Single Sport Specialization?". The American Journal of Sports Medicine. 44 (1): 234–241. doi:10.1177/0363546515576899. ISSN 1552-3365. PMID 25825379.
3. ^ Dean, Charles J. (December 3, 2014). "Good grief: doc who diagnosed 'Little League Elbow' also 'invented modern forensic radiology' (Connecting Alabama)". AL.com. Alabama Media Group. Retrieved 21 April 2015.
4. ^ "Little League Implements New Rule to Protect Pitchers' Arms". Little League. Retrieved 21 April 2015.
## External links[edit]
* Emedicine article
Classification
D
* ICD-9-CM: 718.82
* v
* t
* e
Little League Baseball
Boys
Little League Baseball
Intermediate League Baseball
Junior League Baseball
Senior League Baseball
Big League Baseball
Girls
Little League Softball (girls)
Junior League Softball (girls)
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*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Little League elbow | c3839969 | 30,630 | wikipedia | https://en.wikipedia.org/wiki/Little_League_elbow | 2021-01-18T19:10:15 | {"icd-9": ["718.82"], "wikidata": ["Q6650677"]} |
A number sign (#) is used with this entry because neurodegeneration with brain iron accumulation-5 (NBIA5) is caused by de novo heterozygous or hemizygous mutation in the WDR45 (300526) gene on chromosome Xp11.
Description
NBIA5, sometimes referred to as 'static encephalopathy of childhood with neurodegeneration in adulthood (SENDA),' is an X-linked neurodegenerative disorder characterized by global developmental delay in early childhood that is essentially static, with slow motor and cognitive gains until adolescence or early adulthood. In young adulthood, affected individuals develop progressive dystonia, parkinsonism, extrapyramidal signs, and dementia resulting in severe disability. Brain MRI shows iron accumulation in the globus pallidus and substantia nigra. A characteristic finding is T1-weighted hyperintensity surrounding a central band of hypointensity in the substantia nigra. Cerebral and cerebellar atrophy are also observed (summary by Haack et al., 2012 and Saitsu et al., 2013).
For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (234200).
Clinical Features
In a review of the clinical and genetic features of various forms of NBIA, Gregory et al. (2009) identified a group of 7 patients with a distinctive form of idiopathic NBIA in whom no mutations had been found. These individuals had global developmental delay or frank mental retardation in infancy or early childhood, which remained static for at least 2 decades. Then, during their late twenties to thirties, they developed parkinsonism followed by rapid progression with dystonia, dysarthria, spastic paraparesis, and loss of ambulation. Many responded well to levodopa therapy. Neuroimaging showed abnormal iron accumulation in the substantia nigra in addition to the globus pallidus.
In reviews of NBIA, Schneider and Bhatia (2012) and Schneider and Bhatia (2013) stated that SENDA is characterized by early-onset mental retardation and spastic paraplegia that remains static until the twenties or thirties when it progresses to parkinsonism and dystonia. Variable features include eye movement abnormalities, sleep disorders, frontal release signs, and dysautonomia. Brain MRI shows brain iron accumulation in the globus pallidus and substantia nigra.
Kimura et al. (2013) reported a 39-year-old Japanese woman with SENDA. She had psychomotor retardation since childhood that remained nonprogressive until age 30 when she developed severe dystonia and gait disturbance, resulting in her being bedridden within 3 years. Brain MRI at age 33 years showed marked hypointensity in the globus pallidus and substantia nigra on T2-weighted imaging, consistent with iron deposition. T1-weighted imaging showed hyperintensity of the substantia nigra with a central band of hypointensity. Mild cerebral and cerebellar atrophy was also present. Treatment with levodopa resulted in mild clinical improvement. Reexamination at age 39 years showed clinical progression and progression of the lesions on brain imaging. Magnetic resonance spectroscopy showed increased N-acetylaspartate in the globus pallidus and substantia nigra, suggesting neuronal loss in these regions. Increased myoinositol suggested gliosis.
Saitsu et al. (2013) reported 5 unrelated women with NBIA5, including the patient reported by Kimura et al. (2013). The patients ranged in age from 28 to 51 years, and all showed a similar disease course with delayed psychomotor development in infancy or early childhood, very poor or no speech development, and nonprogressive cognitive dysfunction in childhood. More variable features early in life included seizures, broad-based gait, hand flapping, and spasticity. The phenotype was stable in each until the early twenties or thirties when the patients developed parkinsonism, rigidity, tremor, further cognitive decline, dystonia, and dysphagia. All became bedridden or wheelchair-dependent and fully dependent for all activities of daily living, and some showed aggressive behavior. Brain MRI as young adults showed iron deposition in the globus pallidus and substantia nigra, with a characteristic hyperintensity of the substantia nigra with a central band of hypointensity on T1-weighted images. Cerebral and cerebellar atrophy were also apparent. Two patients had atrophy of the retinal nerve.
### Neuroradiologic Findings
In a review of the neuroradiologic findings of various forms of NBIA, Kruer et al. (2012) noted that SENDA is characterized by iron deposition in the globus pallidus and substantia nigra, as well as T1 hyperintensity of the substantia nigra with a central band of T1 hypointensity. Significant cerebral and milder cerebellar atrophy also occur.
Inheritance
NBIA5 does not follow a pattern of inheritance typical of an X-linked disorder, although molecular analysis has shown it to be X-linked dominant. Haack et al. (2012) reported 17 affected females and 3 affected males who exhibited a homogeneous phenotype. Since WDR45 is on the X chromosome, Haack et al. (2012) concluded that the males must be somatic mosaic for the mutation, which was demonstrated in 1 affected male. Presumably, males with germline WDR45 mutations are nonviable. Females may either harbor germline or somatic mutations, and several affected females had evidence of skewed X-inactivation. All of these factors may contribute to disease manifestations.
Molecular Genetics
In 20 unrelated patients with neurodegeneration with brain iron accumulation-5, Haack et al. (2012) identified 19 different hemizygous or heterozygous de novo mutations in the WDR45 gene (see, e.g., 300526.0001-300526.0002). Most of the mutations were truncating, but 2 were missense mutations affecting highly conserved residues. The mutations were located throughout the coding sequence. Initial mutations were identified by exome sequencing and all were confirmed by Sanger sequencing. There were 17 females and 3 males.
Saitsu et al. (2013) identified 5 different de novo heterozygous truncating mutations in the WDR45 gene (see, e.g., 300526.0003-300526.0005) in 5 unrelated women with NBIA5. The initial mutations were identified by exome sequencing of 2 patients. Lymphoblastoid cells from 4 of the patients showed exclusive expression of the mutant transcript, suggesting X inactivation of the wildtype allele. All patient cells showed decreased levels of the mutant proteins, suggesting protein instability. Patient cells showed impaired autophagic flux. Immunofluorescence studies showed the accumulation of autophagic structures in patient cells, consistent with improper autophagosome formation. The findings suggested that impairment of autophagy contributes to the pathogenesis of this neurodegenerative disorder.
Nomenclature
Haack et al. (2012) recommended that the term 'SENDA' not be used for this disorder, and proposed the term 'beta-propeller protein-associated neurodegeneration (BPAN).' The disorder caused by WDR45 mutation is here designated 'neurodegeneration with brain iron accumulation-5 (NBIA5).'
INHERITANCE \- X-linked dominant HEAD & NECK Eyes \- Eye movement abnormalities \- Retinal nerve atrophy (in some patients) NEUROLOGIC Central Nervous System \- Delayed psychomotor development \- Mental retardation \- Poor speech \- Lack of speech \- Parkinsonism \- Rigidity \- Bradykinesia \- Dystonia \- Tremor \- Extrapyramidal signs \- Spastic paraparesis \- Dementia \- Sleep disorders \- Seizures (in some patients) \- Frontal release signs \- Dysautonomia \- Iron deposition in the globus pallidus and substantia nigra seen on MRI \- T1-weighted hyperintensity surrounding a central band of hypointensity in the substantia nigra \- Cerebral atrophy \- Cerebellar atrophy Behavioral Psychiatric Manifestations \- Aggressive behavior (in some patients) MISCELLANEOUS \- De novo mutation \- Onset in infancy or early childhood \- Disorder is static for first 2 decades and then shows progression of movement disorders and further cognitive decline \- Affected males are somatic mosaic for mutations \- Motor symptoms show mild clinical improvement with levodopa treatment \- Patients are severely disabled as adults MOLECULAR BASIS \- Caused by mutation in the WD repeat-containing protein 45 gene (WDR45, 300526.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 | c3550973 | 30,631 | omim | https://www.omim.org/entry/300894 | 2019-09-22T16:19:17 | {"doid": ["0110739"], "omim": ["300894"], "orphanet": ["329284"], "synonyms": ["STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD", "Static encephalopathy of childhood with neurdegeneration in adulthood", "BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION", "NBIA5", "SENDA", "Alternative titles", "Neurodegeneration with brain iron accumulation type 5", "BPAN"], "genereviews": ["NBK424403"]} |
In medicine, Garrod's tetrad is a term named for British physician Archibald Garrod, who introduced the phrase "inborn errors of metabolism" in a lecture in 1908.[1]
The tetrad comprises four inherited metabolic diseases: albinism, alkaptonuria, cystinuria, and pentosuria.[2] Trick to learn PACA. ( Pentosuria, albinism, cystinuria, alkaptonuria.
## References[edit]
1. ^ Archibald E. Garrod. Inborn Errors of Metabolism: The Croonian Lectures Delivered Before the Royal College of Physicians of London, 1908
2. ^ Vasudevan, D. M.; MD, DM Vasudevan MD FAMS FRCPath, S Sreekumari MD & Vaidyanathan Kannan (2010). Textbook of Biochemistry for Medical Students. JP Medical Ltd. p. 208. ISBN 978-9350250167.
This article about an endocrine, nutritional, or metabolic disease is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Garrod's tetrad | None | 30,632 | wikipedia | https://en.wikipedia.org/wiki/Garrod%27s_tetrad | 2021-01-18T18:31:50 | {"wikidata": ["Q5524075"]} |
Steatohepatitis
Micrograph of steatohepatitis. Liver biopsy. Trichrome stain
SpecialtyGastroenterology
Steatohepatitis is a type of fatty liver disease, characterized by inflammation of the liver with concurrent fat accumulation in liver. Mere deposition of fat in the liver is termed steatosis, and together these constitute fatty liver changes.[1]
There are two main types of fatty liver disease: alcohol-related fatty liver disease and non-alcoholic fatty liver disease (NAFLD).[2] Risk factors for NAFLD include diabetes, obesity and metabolic syndrome. When inflammation is present it is referred to as alcoholic steatohepatitis and nonalcoholic steatohepatitis (NASH).[3] Steatohepatitis of either cause may progress to cirrhosis, and NASH is now believed to be a frequent cause of unexplained cirrhosis (at least in Western societies). NASH is also associated with lysosomal acid lipase deficiency.[medical citation needed]
The word is from steato-, meaning "fat" and hepatitis, meaning "inflammation of the liver".
## Contents
* 1 Alcoholic steatohepatitis
* 2 Non-alcoholic steatohepatitis (NASH)
* 3 See also
* 4 References
* 5 External links
## Alcoholic steatohepatitis[edit]
Main article: Alcoholic liver disease
Chronic alcohol intake commonly causes steatohepatitis.[4]
## Non-alcoholic steatohepatitis (NASH)[edit]
Main article: Non-alcoholic fatty liver disease
Non-alcoholic steatohepatitis is fatty liver disease due to causes other than alcohol. No pharmacological treatment has received approval as of 2015 for NASH.[5] Some studies suggest diet, exercise, and antiglycemic drugs may alter the course of the disease. General recommendations include improving metabolic risk factors and reducing alcohol intake.[6][7] NASH was first described in 1980 in a series of patients of the Mayo Clinic.[8] Its relevance and high prevalence were recognized mainly in the 1990s. Some think NASH is a diagnosis of exclusion, and many cases may in fact be due to other causes.[9]
## See also[edit]
* Chronic liver disease
* Steatosis
* Aramchol
* Elafibranor
## References[edit]
1. ^ "Alcoholic Steatohepatitis – Causes, Symptoms And Treatment". 2011-07-08. Retrieved 21 Dec 2016.
2. ^ "Steatohepatitis and Steatosis (Fatty Liver)". Retrieved 17 May 2016.
3. ^ Vuppalanchi R, Chalasani N (January 2009). "Nonalcoholic fatty liver disease and nonalcoholic steatohepatitis: Selected practical issues in their evaluation and management". Hepatology. 49 (1): 306–17. doi:10.1002/hep.22603. PMC 2766096. PMID 19065650.
4. ^ "Alcoholic Steatohepatitis – Causes, Symptoms And Treatment". 2011-07-08. Retrieved 21 Dec 2016.
5. ^ Ratziu, V; Goodman, Z; Sanyal, A (April 2015). "Current efforts and trends in the treatment of NASH". Journal of Hepatology. 62 (1 Suppl): S65-75. doi:10.1016/j.jhep.2015.02.041. PMID 25920092.
6. ^ Adams LA, Angulo P (2006). "Treatment of non-alcoholic fatty liver disease". Postgrad Med J. 82 (967): 315–22. doi:10.1136/pgmj.2005.042200. PMC 2563793. PMID 16679470.
7. ^ Veena J, Muragundla A, Sidgiddi S, Subramaniam S (2014). "Non-alcoholic fatty liver disease: need for a balanced nutritional source". Br. J. Nutr. 112 (11): 1858–72. doi:10.1017/S0007114514002591. PMID 25274101.
8. ^ Ludwig J, Viggiano TR, McGill DB, Oh BJ (1980). "Nonalcoholic steatohepatitis: Mayo Clinic experiences with a hitherto unnamed disease". Mayo Clin Proc. 55 (7): 434–438. PMID 7382552.
9. ^ Cassiman D, Jaeken J (2008). "NASH may be trash". Gut. 57 (2): 141–4. doi:10.1136/gut.2007.123240. PMID 18192446.
## External links[edit]
Classification
D
* ICD-10: K70.1, K76.0
* ICD-9-CM: 571.0, 571.8
* DiseasesDB: 29786
* SNOMED CT: 442191002
External resources
* eMedicine: article/170539
* v
* t
* e
Diseases of the digestive system
Upper GI tract
Esophagus
* Esophagitis
* Candidal
* Eosinophilic
* Herpetiform
* Rupture
* Boerhaave syndrome
* Mallory–Weiss syndrome
* UES
* Zenker's diverticulum
* LES
* Barrett's esophagus
* Esophageal motility disorder
* Nutcracker esophagus
* Achalasia
* Diffuse esophageal spasm
* Gastroesophageal reflux disease (GERD)
* Laryngopharyngeal reflux (LPR)
* Esophageal stricture
* Megaesophagus
* Esophageal intramural pseudodiverticulosis
Stomach
* Gastritis
* Atrophic
* Ménétrier's disease
* Gastroenteritis
* Peptic (gastric) ulcer
* Cushing ulcer
* Dieulafoy's lesion
* Dyspepsia
* Pyloric stenosis
* Achlorhydria
* Gastroparesis
* Gastroptosis
* Portal hypertensive gastropathy
* Gastric antral vascular ectasia
* Gastric dumping syndrome
* Gastric volvulus
* Buried bumper syndrome
* Gastrinoma
* Zollinger–Ellison syndrome
Lower GI tract
Enteropathy
Small intestine
(Duodenum/Jejunum/Ileum)
* Enteritis
* Duodenitis
* Jejunitis
* Ileitis
* Peptic (duodenal) ulcer
* Curling's ulcer
* Malabsorption: Coeliac
* Tropical sprue
* Blind loop syndrome
* Small bowel bacterial overgrowth syndrome
* Whipple's
* Short bowel syndrome
* Steatorrhea
* Milroy disease
* Bile acid malabsorption
Large intestine
(Appendix/Colon)
* Appendicitis
* Colitis
* Pseudomembranous
* Ulcerative
* Ischemic
* Microscopic
* Collagenous
* Lymphocytic
* Functional colonic disease
* IBS
* Intestinal pseudoobstruction / Ogilvie syndrome
* Megacolon / Toxic megacolon
* Diverticulitis/Diverticulosis/SCAD
Large and/or small
* Enterocolitis
* Necrotizing
* Gastroenterocolitis
* IBD
* Crohn's disease
* Vascular: Abdominal angina
* Mesenteric ischemia
* Angiodysplasia
* Bowel obstruction: Ileus
* Intussusception
* Volvulus
* Fecal impaction
* Constipation
* Diarrhea
* Infectious
* Intestinal adhesions
Rectum
* Proctitis
* Radiation proctitis
* Proctalgia fugax
* Rectal prolapse
* Anismus
Anal canal
* Anal fissure/Anal fistula
* Anal abscess
* Hemorrhoid
* Anal dysplasia
* Pruritus ani
GI bleeding
* Blood in stool
* Upper
* Hematemesis
* Melena
* Lower
* Hematochezia
Accessory
Liver
* Hepatitis
* Viral hepatitis
* Autoimmune hepatitis
* Alcoholic hepatitis
* Cirrhosis
* PBC
* Fatty liver
* NASH
* Vascular
* Budd–Chiari syndrome
* Hepatic veno-occlusive disease
* Portal hypertension
* Nutmeg liver
* Alcoholic liver disease
* Liver failure
* Hepatic encephalopathy
* Acute liver failure
* Liver abscess
* Pyogenic
* Amoebic
* Hepatorenal syndrome
* Peliosis hepatis
* Metabolic disorders
* Wilson's disease
* Hemochromatosis
Gallbladder
* Cholecystitis
* Gallstone / Cholelithiasis
* Cholesterolosis
* Adenomyomatosis
* Postcholecystectomy syndrome
* Porcelain gallbladder
Bile duct/
Other biliary tree
* Cholangitis
* Primary sclerosing cholangitis
* Secondary sclerosing cholangitis
* Ascending
* Cholestasis/Mirizzi's syndrome
* Biliary fistula
* Haemobilia
* Common bile duct
* Choledocholithiasis
* Biliary dyskinesia
* Sphincter of Oddi dysfunction
Pancreatic
* Pancreatitis
* Acute
* Chronic
* Hereditary
* Pancreatic abscess
* Pancreatic pseudocyst
* Exocrine pancreatic insufficiency
* Pancreatic fistula
Other
Hernia
* Diaphragmatic
* Congenital
* Hiatus
* Inguinal
* Indirect
* Direct
* Umbilical
* Femoral
* Obturator
* Spigelian
* Lumbar
* Petit's
* Grynfeltt-Lesshaft
* Undefined location
* Incisional
* Internal hernia
* Richter's
Peritoneal
* Peritonitis
* Spontaneous bacterial peritonitis
* Hemoperitoneum
* Pneumoperitoneum
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Steatohepatitis | c2711227 | 30,633 | wikipedia | https://en.wikipedia.org/wiki/Steatohepatitis | 2021-01-18T19:02:41 | {"mesh": ["D005234"], "icd-9": ["571.8", "571.0"], "icd-10": ["K76.0", "K70.1"], "wikidata": ["Q2335423"]} |
Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii.
## Epidemiology
To date, only nine cases have been reported.
## Clinical description
Ocular findings are striking. Dysmorphic features are not characteristic except for a small pinched nose and a depressed nasal root. Intellectual deficit and growth delay are observed in the majority of patients.
## Genetic counseling
An autosomal recessive pattern of inheritance is probable.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Mietens syndrome | c0265249 | 30,634 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2557 | 2021-01-23T17:41:38 | {"gard": ["3524"], "mesh": ["C537444"], "omim": ["249600"], "umls": ["C0265249"], "icd-10": ["Q87.8"], "synonyms": ["Intellectual disability, Mietens-Weber type"]} |
Bifurcated rib
Other namesBifurcated rib, sternum bifidum
Bifid rib at the right side seen on chest radiograph. The fourth rib splits in two towards the sternal end.
SpecialtyMedical genetics
A bifid rib is a congenital abnormality of the rib cage and associated muscles and nerves which occurs in about 1.2% of humans. Bifid ribs occur in up to 8.4% of Samoans.[1] The sternal end of the rib is cleaved into two. It is usually unilateral.
Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest X-ray. Effects of this neuroskeletal anomaly can include respiratory difficulties, neurological difficulties, limitations, and limited energy from the stress of needing to compensate for the neurophysiological difficulties. Another association is with odontogenic keratocysts (OKC [a.k.a. keratocystic odontogenic tumor (WHO terminology)]) of the jaw which may behave aggressively and have a high propensity to recur when treated with simple enucleation and curettage. When seen together, the patient is likely to have Nevoid Basal Cell Carcinoma Syndrome (a.k.a. Gorlin-Goltz syndrome) and should be evaluated with this in mind.
## See also[edit]
* List of radiographic findings associated with cutaneous conditions
## References[edit]
1. ^ McKinley, Michael; O'Loughlin, Valerie Dean (2008). Human Anatomy (2nd ed.). McGraw-Hill. p. 214. ISBN 978-0-07-128320-5.
## External links[edit]
Classification
D
* ICD-10: Q76.7
* ICD-9-CM: 756.3
* v
* t
* e
Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality
Appendicular
limb / dysmelia
Arms
clavicle / shoulder
* Cleidocranial dysostosis
* Sprengel's deformity
* Wallis–Zieff–Goldblatt syndrome
hand deformity
* Madelung's deformity
* Clinodactyly
* Oligodactyly
* Polydactyly
Leg
hip
* Hip dislocation / Hip dysplasia
* Upington disease
* Coxa valga
* Coxa vara
knee
* Genu valgum
* Genu varum
* Genu recurvatum
* Discoid meniscus
* Congenital patellar dislocation
* Congenital knee dislocation
foot deformity
* varus
* Club foot
* Pigeon toe
* valgus
* Flat feet
* Pes cavus
* Rocker bottom foot
* Hammer toe
Either / both
fingers and toes
* Polydactyly / Syndactyly
* Webbed toes
* Arachnodactyly
* Cenani–Lenz syndactylism
* Ectrodactyly
* Brachydactyly
* Stub thumb
reduction deficits / limb
* Acheiropodia
* Ectromelia
* Phocomelia
* Amelia
* Hemimelia
multiple joints
* Arthrogryposis
* Larsen syndrome
* RAPADILINO syndrome
Axial
Skull and face
Craniosynostosis
* Scaphocephaly
* Oxycephaly
* Trigonocephaly
Craniofacial dysostosis
* Crouzon syndrome
* Hypertelorism
* Hallermann–Streiff syndrome
* Treacher Collins syndrome
other
* Macrocephaly
* Platybasia
* Craniodiaphyseal dysplasia
* Dolichocephaly
* Greig cephalopolysyndactyly syndrome
* Plagiocephaly
* Saddle nose
Vertebral column
* Spinal curvature
* Scoliosis
* Klippel–Feil syndrome
* Spondylolisthesis
* Spina bifida occulta
* Sacralization
Thoracic skeleton
ribs:
* Cervical
* Bifid
sternum:
* Pectus excavatum
* Pectus carinatum
This human musculoskeletal system article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Bifid rib | c0265695 | 30,635 | wikipedia | https://en.wikipedia.org/wiki/Bifid_rib | 2021-01-18T19:04:48 | {"icd-9": ["756.3"], "icd-10": ["Q76.7"], "wikidata": ["Q1440680"]} |
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Megalencephalic leukoencephalopathy with subcortical cysts | c1858854 | 30,636 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2478 | 2021-01-23T16:52:36 | {"gard": ["3445"], "mesh": ["C536141"], "omim": ["604004", "613925", "613926"], "umls": ["C1858854"], "icd-10": ["E75.2"], "synonyms": ["MLC", "Megalencephalic leukodystrophy", "Megalencephaly-cystic leukodystrophy syndrome", "Vacuolating megalencephalic leukoencephalopathy with subcortical cysts", "Van der Knaap syndrome"]} |
Blue nevus
Other namesBlue neuronevus
Micrograph of a blue nevus showing the characteristic pigmented melanocytes between bundles of collagen. H&E stain.
SpecialtyOncology, dermatology
Various differential diagnoses of pigmented skin lesions, by relative incidence and malignancy potential, including "Blue nevus" near top.
Blue nevus (also known as "blue neuronevus", "dermal melanocytoma", "nevus coeruleus" and "nevus bleu"[1]) is a type of melanocytic nevus. The blue colour is caused by the pigment being deeper in the skin than in ordinary nevi. In principle they are harmless[2] but they can sometimes be mimicked by malignant lesions, i.e. some melanomas can look like a blue nevus.[3][4]
## Contents
* 1 Classification
* 2 See also
* 3 References
* 4 External links
## Classification[edit]
Blue nevi may be divided into the following types:[5]:701
* A patch blue nevus (also known as an "acquired dermal melanocytosis", and "dermal melanocyte hamartoma") is a cutaneous condition characterized by a diffusely gray-blue area that may have superimposed darker macules.[1]
* A blue nevus of Jadassohn–Tièche (also known as a "common blue nevus", and "nevus ceruleus") is a cutaneous condition characterized by a steel-blue papule or nodule.[5]:701
* A cellular blue nevus is a cutaneous condition characterized by large, firm, blue or blue-black nodules.[5]:701
* An epithelioid blue nevus is a cutaneous condition most commonly seen in patients with the Carney complex.[5]:701
* A deep penetrating nevus is a type of benign melanocytic skin tumor characterized, as its name suggests, by penetration into the deep dermis and/or subcutis. Smudged chromatic is a typical finding. In some cases mitotic figures or atypical melanocytic cytology are seen, potentially mimicking a malignant melanoma. Evaluation by an expert skin pathologist is advisable in some cases to help differentiate from invasive melanoma.[5]:701
* An amelanotic blue nevus (also known as a "hypomelanotic blue nevus") is a cutaneous condition characterized by mild atypia and pleomorphism.[5]:701
* A malignant blue nevus is a cutaneous condition characterized by a sheet-like growth pattern, mitoses, necrosis, and cellular atypia.[1][5]:701
* Blue nevus
* Cellular blue nevus
* Epithelioid blue nevus
* Malignant blue nevus
## See also[edit]
* List of cutaneous conditions
* List of genes mutated in pigmented cutaneous lesions
## References[edit]
1. ^ a b c Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 1722. ISBN 978-1-4160-2999-1.
2. ^ "Blue naevus (nevus). DermNet NZ". Retrieved 2009-02-27.
3. ^ Blue+Nevi at the US National Library of Medicine Medical Subject Headings (MeSH)
4. ^ Granter SR, McKee PH, Calonje E, Mihm MC, Busam K (March 2001). "Melanoma associated with blue nevus and melanoma mimicking cellular blue nevus: a clinicopathologic study of 10 cases on the spectrum of so-called 'malignant blue nevus'". Am. J. Surg. Pathol. 25 (3): 316–23. doi:10.1097/00000478-200103000-00005. PMID 11224601.
5. ^ a b c d e f g James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
## External links[edit]
Classification
D
* ICD-10: D22 (ILDS D22.L42)
* MeSH: D018329
* DiseasesDB: 31098
* v
* t
* e
Skin cancer of nevi and melanomas
Melanoma
* Mucosal melanoma
* Superficial spreading melanoma
* Nodular melanoma
* lentigo
* Lentigo maligna/Lentigo maligna melanoma
* Acral lentiginous melanoma
* Amelanotic melanoma
* Desmoplastic melanoma
* Melanoma with features of a Spitz nevus
* Melanoma with small nevus-like cells
* Polypoid melanoma
* Nevoid melanoma
* Melanocytic tumors of uncertain malignant potential
Nevus/
melanocytic nevus
* Nevus of Ito/Nevus of Ota
* Spitz nevus
* Pigmented spindle cell nevus
* Halo nevus
* Pseudomelanoma
* Blue nevus
* of Jadassohn–Tièche
* Cellular
* Epithelioid
* Deep penetrating
* Amelanotic
* Malignant
* Congenital melanocytic nevus (Giant
* Medium-sized
* Small-sized)
* Balloon cell nevus
* Dysplastic nevus/Dysplastic nevus syndrome
* Acral nevus
* Becker's nevus
* Benign melanocytic nevus
* Nevus spilus
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Blue nevus | c0206736 | 30,637 | wikipedia | https://en.wikipedia.org/wiki/Blue_nevus | 2021-01-18T18:49:02 | {"mesh": ["D018329"], "umls": ["C0206736"], "icd-10": ["D22"], "wikidata": ["Q2006470"]} |
## Summary
### Clinical characteristics.
Familial paroxysmal nonkinesigenic dyskinesia (PNKD) is characterized by unilateral or bilateral involuntary movements. Attacks are typically precipitated by coffee, tea, or alcohol; they can also be triggered by excitement, stress, or fatigue, or can be spontaneous. Attacks involve dystonic posturing with choreic and ballistic movements, may be accompanied by a preceding aura, occur while the individual is awake, and are not associated with seizures. Attacks last minutes to hours and rarely occur more than once per day. Attack frequency, duration, severity, and combinations of symptoms vary within and among families. Age of onset is typically in childhood or early teens but can be as late as age 50 years.
### Diagnosis/testing.
The clinical diagnosis of familial PNKD is suspected in a proband who presents with attacks of dystonia, chorea, and/or ballismus typically provoked by alcohol or caffeine. Identification of a heterozygous pathogenic variant in PNKD by molecular genetic testing confirms the diagnosis.
### Management.
Treatment of manifestations: Avoid triggers (e.g., caffeine, alcohol, excitement, stress, fatigue). Response to pharmacologic treatment is poor; clonazepam or diazepam can be effective in some individuals. Some individuals have responded to gabapentin, levetiracetam, or acetazolamide.
Surveillance: Monitor medication requirements and dosage.
### Genetic counseling.
Familial PNKD is inherited in an autosomal dominant manner. To date, all reported individuals with familial PNKD have inherited PNKD from an affected parent. Offspring of an affected individual have a 50% chance of inheriting the PNKD pathogenic variant. Once the PNKD pathogenic variant has been identified in an affected family member, prenatal and preimplantation genetic testing are possible.
## Diagnosis
### Suggestive Findings
Familial paroxysmal nonkinesigenic dyskinesia (PNKD) should be suspected in individuals with the following features:
* Attacks:
* Of dystonia, chorea, and/or ballismus, with onset during infancy
* That can be provoked by alcohol or caffeine
* Not typically triggered by sudden movement or sustained exercise
* Lasting several minutes to hours
* Rarely occurring more than once per day
* No loss of consciousness during an attack
* Poor response to pharmacologic treatment (although clonazepam or diazepam can be effective)
* Normal:
* Interictal neurologic examination
* Brain MRI
* EEG
* Family history consistent with autosomal dominant inheritance
### Establishing the Diagnosis
The diagnosis of familial PNKD is established in an individual with the above Suggestive Findings by identification of a heterozygous pathogenic variant in PNKD (formerly named MR-1) by molecular genetic testing (see Table 1).
Molecular genetic testing approaches can include a combination of gene-targeted testing (single-gene testing, multigene panel) and comprehensive genomic testing (exome sequencing, genome sequencing) depending on the phenotype.
Gene-targeted testing requires that the clinician determine which gene(s) are likely involved, whereas genomic testing does not. Because the phenotype of PNKD is broad, individuals with the distinctive findings described in Suggestive Findings are likely to be diagnosed using gene-targeted testing (see Option 1), whereas those in whom the diagnosis of PNKD has not been considered are more likely to be diagnosed using genomic testing (see Option 2).
#### Option 1
When the phenotypic and laboratory findings suggest the diagnosis of PNKD, molecular genetic testing approaches can include single-gene testing or use of a multigene panel:
* Single-gene testing. Sequence analysis of PNKD detects small intragenic deletions/insertions and missense, nonsense, and splice site variants.
Note: The usefulness of deletion/duplication analysis is unknown as no deletions or duplications involving PNKD as a cause of familial PNKD have been reported.
* A multigene panel that includes PNKD and other genes of interest (see Differential Diagnosis) is most likely to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
#### Option 2
When the diagnosis of PNKD is not considered because an individual has atypical phenotypic features, comprehensive genomic testing (which does not require the clinician to determine which gene[s] are likely involved) is the best option. Exome sequencing is most commonly used; genome sequencing is also possible.
For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.
### Table 1.
Molecular Genetic Testing Used in Familial Paroxysmal Nonkinesigenic Dyskinesia
View in own window
Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
PNKDSequence analysis 3~15 families 4
Gene-targeted deletion/duplication analysis 5Unknown, none reported 6
1\.
See Table A. Genes and Databases for chromosome locus and protein.
2\.
See Molecular Genetics for information on allelic variants detected in this gene.
3\.
Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.
4\.
The most common PNKD pathogenic variants reported to date are p.Ala7Val and p.Ala9Val (see Molecular Genetics) [Rainier et al 2004, Stefanova et al 2006, Bruno et al 2007, Pons et al 2012, Yeh et al 2012].
5\.
Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.
6\.
No multiexon or whole-gene deletions or duplications have been reported in families with PNKD (see Genetically Related Disorders).
## Clinical Characteristics
### Clinical Description
Familial paroxysmal nonkinesigenic dyskinesia (PNKD) is characterized by unilateral or bilateral involuntary movements. Attacks are often precipitated by caffeinated beverages but can also be spontaneous or triggered by excitement, stress, fatigue, and very rarely by sudden movements or prolonged exercise [Erro et al 2014].
The clinical description of this disorder is based on the following citations, unless otherwise noted: Demirkiran & Jankovic [1995], Bhatia [1999], Bhatia [2001], Bruno et al [2007], Erro et al [2014], Gardiner et al [2015].
Age of onset is typically in infancy or childhood but can in rare cases be as late as age 50 years.
The attacks predominantly involve dystonic posturing with some choreic and ballistic movements. Individuals often experience an aura-like sensation preceding the attacks. Attacks are never associated with a loss of consciousness and never occur during sleep.
Attacks can occur as frequently as once or twice per day or as infrequently as once or twice per year. Although attacks can rarely be as short as 30 seconds, more frequently they last five minutes to six hours. In 50%-60% of individuals with familial PNKD, the frequency of attacks diminishes with age.
Expressivity is variable within and among families. Varying degrees of severity in symptoms occur; attacks involving respiratory muscles are potentially life threatening [Djarmati et al 2005, Bruno et al 2007, Zittel et al 2015].
Unlike familial paroxysmal kinesigenic dyskinesia (PKD), familial PNKD is not typically associated with seizures. When PNKD co-occurs with epilepsy, other genetic disorders should be considered (see Differential Diagnosis).
### Genotype-Phenotype Correlations
There are currently no known genotype-phenotype correlations.
### Penetrance
Bruno et al [2007] calculated the penetrance of familial PNKD in individuals with PNKD pathogenic variants to be 98%; the asymptomatic individual in the study was too young to be considered unaffected.
### Nomenclature
Familial PNKD is classified as paroxysmal dyskinesia [Erro & Bhatia 2019]. All of the disorders included in the dyskinesia category are characterized by intermittent occurrence of dystonia, chorea, and ballism of varying duration. The nomenclature used to classify the paroxysmal dyskinesias has been evolving over the past 60 years.
Classification of the paroxysmal dyskinesias is based on the duration of attacks and whether the attacks are precipitated by movement, sustained exercise, or nonkinesigenic triggers. Before the discovery of the genes responsible for the paroxysmal dyskinesias, Demirkiran and Jankovic [1995] studied 46 individuals identified with both "idiopathic" and symptomatic paroxysmal movement disorders and devised the following classification system:
* Paroxysmal kinesigenic dyskinesia (PKD) defined as attacks of dyskinesia precipitated primarily by sudden movement and typically lasting less than five minutes
* Paroxysmal nonkinesigenic dyskinesia (PNKD) defined as attacks of dyskinesia precipitated by coffee, alcohol, stress, fatigue, menses, and heat, but not precipitated by exercise or movement, typically lasting minutes to hours
A study by Bruno et al [2007] suggested further modifications to the clinical criteria to identify individuals with PNKD pathogenic variants:
* Hyperkinetic involuntary movement attacks, with dystonia, chorea, or a combination of these, typically lasting ten minutes to one hour, but potentially up to four hours
* Normal neurologic examination results between attacks, and exclusion of secondary causes
* Onset of attacks in infancy or early childhood
* Precipitation of attacks by caffeine and alcohol consumption
* Family history of movement disorder meeting all preceding criteria
* Paroxysmal exertion-induced dyskinesia (now referred to as paroxysmal exercise-induced dyskinesia) (PED) includes attacks of dyskinesia precipitated by five to 15 minutes of physical exertion, such as walking and running, typically lasting 15 to 30 minutes.
* Paroxysmal hypnogenic dyskinesia is characterized by attacks of dyskinesia occurring primarily during sleep. This has been recognized in most cases to be a form of epilepsy: autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). However, pathogenic variants in PRRT2 and ADCY5 have recently been associated with non-epileptic paroxysmal dyskinesias occurring during sleep.
Outdated terms for PNKD
* Familial paroxysmal choreoathetosis
* Paroxysmal dystonic choreoathetosis
* DYT8
* DYT-MR-1
### Prevalence
Familial PNKD is extremely rare; exact prevalence is unknown.
## Differential Diagnosis
Paroxysmal dyskinesias have been reported in individuals with the following disorders (brain MRI examination is important to rule out these etiologies):
* Basal ganglia lesions caused by multiple sclerosis
* Tumors
* Vascular lesions including Moyamoya disease
* Penetrating brain injury (e.g., right frontal)
* Central pontine myelinolysis
Focal seizures can present with paroxysms of dystonia; EEG is an essential part of the investigations.
Autoimmune disorders. Dyskinesias seen in association with rheumatic fever (Sydenham's chorea) are associated with a raised anti-streptolysin O (ASO) titer and normal cerebrospinal fluid. PNKD has also been reported as a manifestation of antiphospholipid antibody syndrome [Engelen & Tijssen 2005].
Chorea gravidarum can present with paroxysms of chorea in the first trimester of pregnancy and usually resolves after delivery.
Other. Paroxysmal chorea can also be seen with systemic lupus erythematosus, diabetes mellitus, hypoparathyroidism, pseudohypoparathyroidism, and thyrotoxicosis. The relevant laboratory testing should be done if these etiologies are being considered [Mahmud et al 2005].
### Inherited Causes of Paroxysmal Dyskinesia
### Table 2.
Disorders to Consider in the Differential Diagnosis of Familial PNKD
View in own window
MOI /
CategoryDisorderGene(s)Age of OnsetNeurologic Presentation
AD /
Paroxysmal dyskinesiasFamilial paroxysmal kinesigenic dyskinesia
(see PRRT2-Associated Paroxysmal Movement Disorders)PRRT2 1Typically childhood & adolescenceAttacks of dyskinesia:
* Are triggered by sudden movement;
* Last secs to mins;
* May occur 100x/day;
* Do not cause loss of consciousness, & individuals have normal ictal EEG.
Clinical spectrum can incl:
* Episodic ataxia;
* Hemiplegic migraine.
Some individuals have personal or family history of afebrile convulsions.
Glucose transporter type 1 deficiency syndromeSLC2A1InfancyPED:
* Lasts 5-30 mins;
* Can be part of a complex neurologic syndrome incl epilepsy, developmental delay, ataxia, & spasticity.
Autosomal dominant nocturnal frontal lobe epilepsyManyInfancy to adulthood
* Incl dystonia, chorea, & ballism
* Episodes generally occur during non-REM sleep, often evoking arousal followed again by sleep.
* Individuals are able to recall the episodes in the morning.
KCNMA1-related paroxysmal dyskinesia (OMIM 609446)KCNMA1Childhood
* Attacks of PNKD can be triggered by alcohol or coffee.
* Individuals also have epilepsy &/or developmental delay.
ADCY5-related dyskinesiaADCY5ChildhoodChoreiform, myoclonic, &/or dystonic movements w/attacks of paroxysmal dyskinesia, exacerbated by anxiety, not precipitated by startle, caffeine, or alcohol
Alternating hemiplegia of childhood (see ATP1A3-Related Neurologic Disorders)ATP1A3ChildhoodAlternating (i.e., from one side of the body to the other) attacks of dystonia w/a typical rostrocaudal distribution that may be triggered by fever, trauma, or stress
AD /
DyskinesiasBenign hereditary chorea (see NKX2-1-Related Disorders)NKX2-1Childhood
* Non-progressive choreiform movements
* Severely affected individuals can be disabled by the chorea.
XL & AR /
DyskinesiasPyruvate dehydrogenase deficiency (see OMIM PS312170)ManyChildhood
* Paroxysmal attacks of dystonia & chorea often in the form of PED
* Attacks can be isolated or associated w/signs & symptoms of Leigh syndrome.
AD = autosomal dominant; AR = autosomal recessive; MOI = mode of inheritance; PED = paroxysmal exercise-induced dyskinesia; XL = X-linked
1\.
Heterozygous pathogenic variants in PRRT2 have been reported as causative of familial paroxysmal kinesigenic dyskinesia (PKD) in a subset of individuals. The other gene(s) associated with PKD have not been identified.
## Management
### Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with familial paroxysmal nonkinesigenic dyskinesia (PNKD), the evaluations summarized in this section (if not performed as part of the evaluation that led to the diagnosis) are recommended:
* Referral to a neurologist for discussion of treatment options
* Consultation with a clinical geneticist and/or genetic counselor
### Treatment of Manifestations
Avoid triggers (e.g., caffeine, alcohol).
Response to pharmacologic treatment is poor; however, clonazepam or diazepam can be effective in at least 50% of individuals with PNKD, although response may decrease over time.
* A child age four years with familial PNKD responded to gabapentin [Chudnow et al 1997].
* Szczałuba et al [2009] reported individuals from a family with PNKD who responded favorably to levetiracetam.
* Zittel et al [2015] reported individuals with severe PNKD who responded to acetazolamide.
### Surveillance
Monitor medication requirements and dosage.
### Evaluation of Relatives at Risk
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Pregnancy Management
Pregnant women who are on anticonvulsant therapy for familial PNKD are advised to take folic acid (5 mg/day). Because of the risk of teratogenic effects related to anticonvulsants, women with mild symptoms related to familial PNKD may consider discontinuing anticonvulsant therapy during pregnancy.
See MotherToBaby for access further information on medication use during pregnancy.
### Therapies Under Investigation
Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Familial Paroxysmal Nonkinesigenic Dyskinesia | c4551506 | 30,638 | gene_reviews | https://www.ncbi.nlm.nih.gov/books/NBK1221/ | 2021-01-18T21:26:13 | {"mesh": ["C537181"], "synonyms": ["Paroxysmal Dystonic Choreoathetosis", "Paroxysmal Nonkinesigenic Dyskinesia", "PNKD"]} |
"Dysmorphia" redirects here. For the butterfly genus, see Dismorphia.
Mental disorder
Body dysmorphic disorder
Other namesBody dysmorphia, dysmorphic syndrome, dysmorphophobia
A cartoon of a patient with body dysmorphia looking in a mirror, seeing a distorted image of himself
SpecialtyPsychiatry, clinical psychology
Body dysmorphic disorder (BDD), occasionally still called dysmorphophobia, is a mental disorder characterized by the obsessive idea that some aspect of one's own body part or appearance is severely flawed and therefore warrants exceptional measures to hide or fix it.[1] In BDD's delusional variant, the flaw is imagined.[2] If the flaw is actual, its importance is severely exaggerated.[2] Either way, thoughts about it are pervasive and intrusive, and may occupy several hours a day, causing severe distress and impairing one’s otherwise normal activities. The DSM-5 categorizes BDD in the obsessive–compulsive spectrum, and distinguishes it from anorexia nervosa.
BDD is estimated to affect from 0.7% to 2.4% of the population.[2] It usually starts during adolescence and affects both men and women.[2][3] The BDD subtype muscle dysmorphia, perceiving the body as too small, affects mostly males.[4] Besides thinking about it, one repetitively checks and compares the perceived flaw, and can adopt unusual routines to avoid social contact that exposes it.[2] Fearing the stigma of vanity, one usually hides the preoccupation.[2] Commonly unsuspected even by psychiatrists, BDD has been underdiagnosed.[2] Severely impairing quality of life via educational and occupational dysfunction and social isolation, BDD has high rates of suicidal thoughts and attempts at suicide.[2]
## Contents
* 1 Signs and symptoms
* 2 Causal factors
* 2.1 Social media
* 3 Diagnosis
* 4 Treatment
* 5 History
* 6 References
* 7 External links
## Signs and symptoms[edit]
Whereas vanity involves a quest to aggrandize the appearance, BDD is experienced as a quest to merely normalize the appearance.[2] Although delusional in about one of three cases, the appearance concern is usually nondelusional, an overvalued idea.[3]
The bodily area of focus can be nearly any, yet is commonly face, hair, stomach, thighs, or hips.[5] Some half dozen areas can be a roughly simultaneous focus.[2] Many seek dermatological treatment or cosmetic surgery, which typically do not resolve the distress.[2] On the other hand, attempts at self-treatment, as by skin picking, can create lesions where none previously existed.[2]
BDD shares features with obsessive-compulsive disorder,[6] but involves more depression and social avoidance.[1] BDD often associates with social anxiety disorder.[7] Some experience delusions that others are covertly pointing out their flaws.[2] Cognitive testing and neuroimaging suggest both a bias toward detailed visual analysis and a tendency toward emotional hyper-arousal.[8]
Most generally, one experiencing BDD ruminates over the perceived bodily defect several hours daily or longer, uses either social avoidance or camouflaging with cosmetics or apparel, repetitively checks the appearance, compares it to that of other people, and might often seek verbal reassurances.[1][2] One might sometimes avoid mirrors, repetitively change outfits, groom excessively, or restrict eating.[5]
BDD's severity can wax and wane, and flareups tend to yield absences from school, work, or socializing, sometimes leading to protracted social isolation, with some becoming housebound for extended periods.[2] Social impairment is usually greatest, sometimes approaching avoidance of all social activities.[5] Poor concentration and motivation impair academic and occupational performance.[5] The distress of BDD tends to exceed that of either major depressive disorder or type-2 diabetes, and rates of suicidal ideation and attempts are especially high.[2]
## Causal factors[edit]
As with most mental disorders, BDD's cause is likely intricate, altogether biopsychosocial, through an interaction of multiple factors, including genetic, developmental, psychological, social, and cultural.[9][10] BDD usually develops during early adolescence,[5] although many patients note earlier trauma, abuse, neglect, teasing, or bullying.[11] In many cases, social anxiety earlier in life precedes BDD. Though twin studies on BDD are few, one estimated its heritability at 43%.[12] Yet other factors may be introversion,[13] negative body image, perfectionism,[9][14] heightened aesthetic sensitivity,[10] and childhood abuse and neglect.[10][15]
### Social media[edit]
Constant use of social media and “selfie taking” may translate into low self-esteem and body dysmorphic tendencies. The sociocultural theory of self-esteem states that the messages given by media and peers about the importance of appearance are internalized by individuals who adopt others’ standards of beauty as their own.[16] Due to excessive social media use and selfie taking, individuals may become preoccupied about presenting an ideal photograph for the public.[citation needed]
Specifically, females’ mental health has been the most affected by persistent exposure to social media. Girls with BDD present symptoms of low self-esteem and negative self-evaluation. Researchers in Istanbul Bilgi University and Bogazici University in Turkey found that individuals who have low self-esteem participate more often in trends of taking selfies along with using social media to mediate their interpersonal interaction in order to fulfill their self-esteem needs.[17] The self-verification theory, explains how individuals use selfies to gain verification from others through likes and comments. Social media may therefore trigger one’s misconception about their physical look. Similar to those with body dysmorphic tendencies, such behavior may lead to constant seeking of approval, self-evaluation and even depression.[18]
In 2019 systematic review using Web of Science, PsycINFO, and PubMed databases was used to identify social networking site patterns. In particular appearance focused social media use was found to be significantly associated with greater body image dissatisfaction. It is highlighted that comparisons appear between body image dissatisfaction and BDD symptomatology. They concluded that heavy social media use may mediate the onset of sub-threshold BDD. [19]
Individuals with BDD tend to engage in heavy plastic surgery use. Mayank Vats from Rashid Hospital in the UAE, indicated that selfies may be the reason why young people seek plastic surgery with 10% increase in nose jobs, 7% increase in hair transplants and 6% increase in eyelid surgery in 2013.[20] In 2018, the term “Snapchat Dysmorphia” was coined by Tijion Esho, a cosmetic doctor in London. The term refers to individuals seeking plastic surgeries to mimic “filtered” pictures.[21] Filtered photos, such as those on Instagram and Snapchat, often present unrealistic and unattainable looks that may be a causal factor in triggering BDD.[citation needed]
## Diagnosis[edit]
Estimates of prevalence and gender distribution have varied widely via discrepancies in diagnosis and reporting.[1] In American psychiatry, BDD gained diagnostic criteria in the DSM-IV, but clinicians' knowledge of it, especially among general practitioners, is constricted.[22] Meanwhile, shame about having the bodily concern, and fear of the stigma of vanity, makes many hide even having the concern.[2][23]
Via shared symptoms, BDD is commonly misdiagnosed as social anxiety disorder, obsessive-compulsive disorder, major depressive disorder, or social phobia.[24][25] Correct diagnosis can depend on specialized questioning and correlation with emotional distress or social dysfunction.[26] Estimates place the Body Dysmorphic Disorder Questionnaire's sensitivity at 100% (0% false negatives) and specificity at 92.5% (7.5% false positives).[27]
## Treatment[edit]
Anti-depressant medication, such as selective serotonin reuptake inhibitors (SSRIs), and cognitive-behavioral therapy (CBT) are considered effective.[5][28][29] SSRIs can help relieve obsessive-compulsive and delusional traits, while cognitive-behavioral therapy can help patients recognize faulty thought patterns.[5] Before treatment, it can help to provide psychoeducation, as with self-help books and support websites.[5]
## History[edit]
In 1886, Enrico Morselli reported a disorder that he termed dysmorphophobia.[30] In 1980, the American Psychiatric Association recognized the disorder, while categorizing it as an atypical somatoform disorder, in the third edition of its Diagnostic and Statistical Manual of Mental Disorders (DSM).[3] Classifying it as a distinct somatoform disorder, the DSM-III's 1987 revision switched the term to body dysmorphic disorder.[3]
Published in 1994, DSM-IV defines BDD as a preoccupation with an imagined or trivial defect in appearance, a preoccupation causing social or occupational dysfunction, and not better explained as another disorder, such as anorexia nervosa.[3][31] Published in 2013, the DSM-5 shifts BDD to a new category (obsessive–compulsive spectrum), adds operational criteria (such as repetitive behaviors or intrusive thoughts), and notes the subtype muscle dysmorphia (preoccupation that one's body is too small or insufficiently muscular or lean).[citation needed]
## References[edit]
1. ^ a b c d Cororve, Michelle; Gleaves, David (August 2001). "Body dysmorphic disorder: A review of conceptualizations, assessment, and treatment strategies". Clinical Psychology Review. 21 (6): 949–970. doi:10.1016/s0272-7358(00)00075-1. PMID 11497214.
2. ^ a b c d e f g h i j k l m n o p q Bjornsson AS; Didie ER; Phillips KA (2010). "Body dysmorphic disorder". Dialogues Clin Neurosci. 12 (2): 221–32. PMC 3181960. PMID 20623926.
3. ^ a b c d e Mufaddel Amir, Osman Ossama T, Almugaddam Fadwa, Jafferany Mohammad (2013). "A review of body dysmorphic disorder and Its presentation in different clinical settings". Primary Care Companion for CNS Disorders. 15 (4). doi:10.4088/PCC.12r01464. PMC 3869603. PMID 24392251.CS1 maint: multiple names: authors list (link)
4. ^ Katharine A Phillips, Understanding Body Dysmorphic Disorder: An Essential Guide (New York: Oxford University Press, 2009), pp 50–51.
5. ^ a b c d e f g h Katharine A Phillips, "Body dysmorphic disorder: Recognizing and treating imagined ugliness", World Psychiatry, 2004 Feb;3(1):12-7.
6. ^ Fornaro M, Gabrielli F, Albano C, et al. (2009). "Obsessive-compulsive disorder and related disorders: A comprehensive survey". Annals of General Psychiatry. 8: 13. doi:10.1186/1744-859X-8-13. PMC 2686696. PMID 19450269.
7. ^ Fang, Angela; Hofmann Stefan G (Dec 2010). "Relationship between social anxiety disorder and body dysmorphic disorder". Clinical Psychology Review. 30 (8): 1040–1048. doi:10.1016/j.cpr.2010.08.001. PMC 2952668. PMID 20817336.
8. ^ Buchanan Ben G, Rossell Susan L, Castle David J (Feb 2011). "Body dysmorphic disorder: A review of nosology, cognition and neurobiology". Neuropsychiatry. 1 (1): 71–80. doi:10.2217/npy.10.3.
9. ^ a b Katharine A Phillips, Understanding Body Dysmorphic Disorder: An Essential Guide (New York: Oxford University Press, 2009), ch 9.
10. ^ a b c Feusner, J.D.; Neziroglu, F; Wilhelm, S.; Mancusi, L.; Bohon, C. (2010). "What causes BDD: Research findings and a proposed model". Psychiatric Annals. 40 (7): 349–355. doi:10.3928/00485713-20100701-08. PMC 3859614. PMID 24347738.
11. ^ Brody, Jane E. (2010-03-22). "When your looks take over your life". The New York Times. Retrieved 13 March 2017.
12. ^ Browne, Heidi A.; Gair, Shannon L.; Scharf, Jeremiah M.; Grice, Dorothy E. (2014-01-01). "Genetics of obsessive-Compulsive Disorder and Related Disorders". Psychiatric Clinics of North America. 37 (3): 319–335. doi:10.1016/j.psc.2014.06.002. PMC 4143777. PMID 25150565.
13. ^ Veale D (2004). "Body dysmorphic disorder". British Medical Journal. 80 (940): 67–71. doi:10.1136/pmj.2003.015289. PMC 1742928. PMID 14970291.
14. ^ Hartmann, A (2014). "A comparison of self-esteem and perfectionism in anorexia nervosa and body dysmorphic disorder". Journal of Nervous and Mental Disease. 202 (12): 883–888. doi:10.1097/nmd.0000000000000215. PMID 25390930.
15. ^ Didie E, Tortolani C, Pope C, Menard W, Fay C, Phillips K (2006). "Childhood abuse and neglect in body dysmorphic disorder". Child Abuse and Neglect. 30 (10): 1105–1115. doi:10.1016/j.chiabu.2006.03.007. PMC 1633716. PMID 17005251.
16. ^ Exacting Beauty: Theory, Assessment, and Treatment of Body Image Disturbance.
17. ^ Varnali K. Self-disclosure on social networking sites. Social Behavior and Personality. 2015;43:1–14.doi: http://dx.doi.org/10.2224/sbp.2015.43.1.1.
18. ^ Swann WB. Self-verification: Bringing social reality into harmony with the self. In: Suls J, Greenwald AG, editors. Social psychological perspectives on the self. Vol. 2. Hillsdale, NJ: Lawrence Erlbaum; 1983. pp. 33–66.
19. ^ Ryding, F. C., & Kuss, D. J. (2019). The use of social networking sites, body image dissatisfaction, and body dysmorphic disorder: A systematic review of psychological research. Psychology of Popular Media Culture. Advance online publication. https://doi.org/10.1037/ppm0000264
20. ^ Vats M. Selfie syndrome: An infectious gift of IT to health care. J Lung Pulm Respir Res. 2015;2:48.
21. ^ "Is "Snapchat Dysmorphia" a Real Issue?".
22. ^ Katharine A Phillips. The Broken Mirror. Oxford University Press, 1996. p. 39.
23. ^ Prazeres AM, Nascimento AL, Fontenelle LF (2013). "Cognitive-behavioral therapy for body dysmorphic disorder: A review of its efficacy". Neuropsychiatric Disease and Treatment. 9: 307–16. doi:10.2147/NDT.S41074. PMC 3589080. PMID 23467711.
24. ^ "Body Dysmorphic Disorder". Anxiety and Depression Association of America. Anxiety and Depression Association of America. Retrieved 2 January 2019.
25. ^ Katharine A Phillips. The Broken Mirror. Oxford University Press, 1996. p. 47.
26. ^ Phillips, Katherine; Castle, David (November 3, 2001). "British Medical Journal". BMJ. 323 (7320): 1015–1016. doi:10.1136/bmj.323.7320.1015. PMC 1121529. PMID 11691744.
27. ^ Grant, Jon; Won Kim, Suck; Crow, Scott (2001). "Prevalence and Clinical Features of Body Dysmorphic Disorder in Adolescent and Adult Psychiatric Inpatients". J Clin Psychiatry. 62 (7): 517–522. doi:10.4088/jcp.v62n07a03. PMID 11488361.
28. ^ Harrison, A.; Fernández de la Cruz, L.; Enander, J.; Radua, J.; Mataix-Cols, D. (2016). "Cognitive-behavioral therapy for body dysmorphic disorder: A systematic review and meta-analysis of randomized controlled trials". Clinical Psychology Review. 48: 43–51. doi:10.1016/j.cpr.2016.05.007. PMID 27393916.
29. ^ Jc, Ipser; C, Sander; Dj, Stein (2009-01-21). "Pharmacotherapy and Psychotherapy for Body Dysmorphic Disorder". Cochrane Database of Systematic Reviews. doi:10.1002/14651858.CD005332.pub2. PMC 7159283. PMID 19160252.
30. ^ Hunt TJ; Thienhaus O; Ellwood A (July 2008). "The mirror lies: Body dysmorphic disorder". American Family Physician. 78 (2): 217–22. PMID 18697504.
31. ^ Diagnostic and Statistical Manual of Mental Disorders (Fourth text revision ed.). American Psychiatric Association, Washington DC. 2000. pp. 507–10.
## External links[edit]
Classification
D
* ICD-10: F45.2
* ICD-10-CM: F45.22
* ICD-9-CM: 300.7
* MeSH: D057215
* DiseasesDB: 33723
External resources
* eMedicine: med/3124
* Patient UK: Body dysmorphic disorder
* v
* t
* e
Mental and behavioral disorders
Adult personality and behavior
Gender dysphoria
* Ego-dystonic sexual orientation
* Paraphilia
* Fetishism
* Voyeurism
* Sexual maturation disorder
* Sexual relationship disorder
Other
* Factitious disorder
* Munchausen syndrome
* Intermittent explosive disorder
* Dermatillomania
* Kleptomania
* Pyromania
* Trichotillomania
* Personality disorder
Childhood and learning
Emotional and behavioral
* ADHD
* Conduct disorder
* ODD
* Emotional and behavioral disorders
* Separation anxiety disorder
* Movement disorders
* Stereotypic
* Social functioning
* DAD
* RAD
* Selective mutism
* Speech
* Stuttering
* Cluttering
* Tic disorder
* Tourette syndrome
Intellectual disability
* X-linked intellectual disability
* Lujan–Fryns syndrome
Psychological development
(developmental disabilities)
* Pervasive
* Specific
Mood (affective)
* Bipolar
* Bipolar I
* Bipolar II
* Bipolar NOS
* Cyclothymia
* Depression
* Atypical depression
* Dysthymia
* Major depressive disorder
* Melancholic depression
* Seasonal affective disorder
* Mania
Neurological and symptomatic
Autism spectrum
* Autism
* Asperger syndrome
* High-functioning autism
* PDD-NOS
* Savant syndrome
Dementia
* AIDS dementia complex
* Alzheimer's disease
* Creutzfeldt–Jakob disease
* Frontotemporal dementia
* Huntington's disease
* Mild cognitive impairment
* Parkinson's disease
* Pick's disease
* Sundowning
* Vascular dementia
* Wandering
Other
* Delirium
* Organic brain syndrome
* Post-concussion syndrome
Neurotic, stress-related and somatoform
Adjustment
* Adjustment disorder with depressed mood
Anxiety
Phobia
* Agoraphobia
* Social anxiety
* Social phobia
* Anthropophobia
* Specific social phobia
* Specific phobia
* Claustrophobia
Other
* Generalized anxiety disorder
* OCD
* Panic attack
* Panic disorder
* Stress
* Acute stress reaction
* PTSD
Dissociative
* Depersonalization disorder
* Dissociative identity disorder
* Fugue state
* Psychogenic amnesia
Somatic symptom
* Body dysmorphic disorder
* Conversion disorder
* Ganser syndrome
* Globus pharyngis
* Psychogenic non-epileptic seizures
* False pregnancy
* Hypochondriasis
* Mass psychogenic illness
* Nosophobia
* Psychogenic pain
* Somatization disorder
Physiological and physical behavior
Eating
* Anorexia nervosa
* Bulimia nervosa
* Rumination syndrome
* Other specified feeding or eating disorder
Nonorganic sleep
* Hypersomnia
* Insomnia
* Parasomnia
* Night terror
* Nightmare
* REM sleep behavior disorder
Postnatal
* Postpartum depression
* Postpartum psychosis
Sexual dysfunction
Arousal
* Erectile dysfunction
* Female sexual arousal disorder
Desire
* Hypersexuality
* Hypoactive sexual desire disorder
Orgasm
* Anorgasmia
* Delayed ejaculation
* Premature ejaculation
* Sexual anhedonia
Pain
* Nonorganic dyspareunia
* Nonorganic vaginismus
Psychoactive substances, substance abuse and substance-related
* Drug overdose
* Intoxication
* Physical dependence
* Rebound effect
* Stimulant psychosis
* Substance dependence
* Withdrawal
Schizophrenia, schizotypal and delusional
Delusional
* Delusional disorder
* Folie à deux
Psychosis and
schizophrenia-like
* Brief reactive psychosis
* Schizoaffective disorder
* Schizophreniform disorder
Schizophrenia
* Childhood schizophrenia
* Disorganized (hebephrenic) schizophrenia
* Paranoid schizophrenia
* Pseudoneurotic schizophrenia
* Simple-type schizophrenia
Other
* Catatonia
Symptoms and uncategorized
* Impulse control disorder
* Klüver–Bucy syndrome
* Psychomotor agitation
* Stereotypy
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Body dysmorphic disorder | c0005887 | 30,639 | wikipedia | https://en.wikipedia.org/wiki/Body_dysmorphic_disorder | 2021-01-18T18:38:41 | {"mesh": ["D057215"], "icd-9": ["300.7"], "icd-10": ["F45.2"], "wikidata": ["Q844590"]} |
A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| EEM syndrome | c1857041 | 30,640 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1897 | 2021-01-23T18:57:57 | {"gard": ["2078"], "mesh": ["C536190"], "omim": ["225280"], "umls": ["C1857041"], "icd-10": ["Q87.8"], "synonyms": ["Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome"]} |
Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma.
## Epidemiology
Exact prevalence is unknown. Prevalence of endogenous CS is estimated at around 1/26,000, with CD representing more than two-thirds of all cases. Recent data suggests that mild CD is more common than previously thought.
## Clinical description
The female-to-male ratio of CD is 4-5:1, except in prepubertal patients, in which a strong male predominance is observed. The peak incidence is at 25-40 years of age. The disease manifests with signs of CS (truncal and facial obesity and signs of hypercatabolism) as well as skin hyperpigmentation and/or neurological complications in some cases of corticotroph macro-adenoma.
## Etiology
Little is known about the underlying pathogenesis of pituitary tumors. Most pituitary adenomas arise in a sporadic setting with rare cases (< 5 %) developing as part of familial syndromes such as multiple endocrine neoplasia type 1 (MEN 1), which is caused by mutations in the MEN1 gene (11q13), familial isolated pituitary adenomas (FIPA), in which mutations of the AIP gene ( 11q13-32) have been found in 15% of patients, and the recently described multiple endocrine neoplasia type 4 (MEN 4) which is caused by mutations in the CDKN1B gene (see these terms).
## Diagnostic methods
The first diagnostic step is to confirm CS (i.e. hypercortisolemic state) based on 1st line recommended tests (at least two measurements of 24h urinary cortisol and late night salivary cortisol, and 1 mg overnight or 48-h-2 mg dexamethasone suppression test) and 2nd line tests (either one of the above or midnight serum cortisol measurement or serum cortisol cycle or dynamic tests). The second step of diagnosis is plasma ACTH detection to distinguish ACTH-dependent CS (values greater than 15-20 pg/mL) from ACTH-independent CS (see this term). When in doubt, a CRH test or a high-dose dexamethasone suppression test and adrenal gland computed tomography (CT) are recommended. The third step localizes the site of ACTH over-secretion, pituitary (CD) or non-pituitary (ectopic ACTH secretion syndrome, EASS; see this term). Diagnosis of CD is based on dynamic hormonal tests to analyse the corticotropic response that distinguishes CD (with response often partially regulated: ''positive'' tests) from EASS (with response generally unregulated: ''negative'' tests) as well as measures of tumour markers, imaging (pituitary magnetic resonance imaging (MRI), thoraco-abdomino-pelvic CT, somatostatin receptor scintigraphy) and bilateral inferior petrosal sinus sampling for ACTH assay.
## Differential diagnosis
The differential diagnoses of CD are the causes of CS (see this term).
## Genetic counseling
Suspicion of a genetic condition warrants a specialized multidisciplinary genetic consultation.
## Management and treatment
Removal of the tumor may lead to full recovery but there is a 15-25 % recurrence risk and a 20-30% persistence risk after surgery. Transsphenoidal pituitary surgery is the first-line treatment for accessible and non-invasive pituitary microadenoma, and in some cases of negative MRI, if CD is confirmed by inferior petrosal sinus sampling. After successful pituitary surgery, hydrocortisone replacement is often required. When surgery fails, reintervention may be proposed. If pituitary surgery is not possible or unsuccessful, alternative options should be considered individually such as medical treatment, bilateral adrenalectomy or pituitary radiotherapy.
## Prognosis
Untreated CD can be life-threatening.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Cushing disease | c0010481 | 30,641 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=96253 | 2021-01-23T17:07:38 | {"gard": ["12867"], "mesh": ["D047748", "D003480"], "omim": ["219090"], "umls": ["C0010481", "C0221406"], "icd-10": ["D35.2", "E24.0"], "synonyms": ["Corticotroph pituitary adenoma", "Pituitary corticotroph micro-adenoma", "Pituitary-dependent Cushing syndrome"]} |
A number sign (#) is used with this entry because CMT4B1 is caused by mutation in the gene encoding the myotubularin-related protein-2 (MTMR2; 603557).
For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive demyelinating Charcot-Marie-Tooth disease, see CMT4A (214400).
Clinical Features
Quattrone et al. (1996) and Bolino et al. (1996) reported a large consanguineous southern Italian family in which 10 members were affected with a distinct form of autosomal recessive demyelinating neuropathy, which they designated Charcot-Marie-Tooth disease type 4B. This motor and sensory neuropathy was characterized pathologically by the presence of focally folded myelin sheaths.
See 256855 and CMT4B2 (604563) for disorders with a similar phenotype.
Mapping
After exclusion of linkage of CMT4B to loci responsible for other forms of hereditary motor and sensory neuropathy (e.g., 118220, 118200, 118210, and 214400), Bolino et al. (1996) optimized their genomewide search by using homozygosity mapping and haplotype-sharing analysis. Results of this analysis placed the disease locus in the 4-cM interval on chromosome 11q23 delimited by the markers D11S1332 and D11S917.
Using additional physically ordered microsatellite markers from the 11q22 region on the original inbred family, Bolino et al. (2000) narrowed the critical interval for the gene to 2 Mb. After computer analysis of the 33 ESTs assigned to this 2-Mb interval, they demonstrated that 21 different transcripts, as well as 3 known genes, represent potential candidates for the disease.
Molecular Genetics
Bolino et al. (1998) excluded the SCN2B gene (601327) as a candidate for the disorder.
In unrelated CMT4B patients, Bolino et al. (2000) identified 5 different mutations in the MTMR2 gene (603557.0001-603557.0005). The mutations, found in homozygosity and in compound heterozygosity, resulted in premature termination or frameshift, most likely leading to lack of functional MTMR2 protein as the cause of CMT4B. Bolino et al. (2000) postulated that lack of MTMR2 protein may result in constitutive phosphorylation of an unknown substrate, leading to Schwann cell proliferation with overgrowth of myelin observed in the peripheral nerve.
Animal Model
Bonneick et al. (2005) generated a mouse model of CMT4B1 by introducing an E276X mutation in exon 9 of the Mtmr2 gene and deleting the chromosomal region immediately downstream of the stop codon up to within exon 13. The resulting allele closely mimicked the mutation (603557.0002) found in a Saudi Arabian CMT4B1 patient. Animals homozygous for the mutation showed various degrees of complex myelin infoldings and outfoldings exclusively in peripheral nerves. This pathology was progressive with age, and axonal damage was occasionally observed. Distal nerve regions were more affected than proximal parts; however, there were no significant electrophysiologic changes, even in aged (16-month-old) mice, suggesting that myelin infoldings and outfoldings per se may not be invariably associated with detectable electrophysiologic abnormalities.
INHERITANCE \- Autosomal recessive HEAD & NECK Face \- Facial weakness SKELETAL Spine \- Scoliosis may be present Feet \- Talipes equinovarus \- Foot deformities NEUROLOGIC Peripheral Nervous System \- Delayed motor development \- Distal limb muscle weakness due to peripheral neuropathy \- Distal limb muscle atrophy due to peripheral neuropathy \- Proximal limb muscle weakness \- Facial weakness \- Distal sensory impairment \- Severely decreased motor nerve conduction velocity (NCV) (15 m/s) \- Irregular loops and focal folding of myelin sheaths \- Abnormal auditory evoked potentials MISCELLANEOUS \- Mean age of onset 34 months \- Death in fourth to fifth decade \- Begins in feet and legs (peroneal distribution) \- Severe clinical course \- Genetic heterogeneity (see CMT4B2, 604563 ) MOLECULAR BASIS \- Caused by mutation in the myotubularin-related protein-2 gene (MTMR2, 603557.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1 | c1832399 | 30,642 | omim | https://www.omim.org/entry/601382 | 2019-09-22T16:14:54 | {"doid": ["0110191"], "mesh": ["C535420"], "omim": ["601382"], "orphanet": ["99955"], "synonyms": ["Alternative titles", "CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, WITH FOCALLY FOLDED MYELIN SHEATHS, AUTOSOMAL RECESSIVE, TYPE 4B1", "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4B1", "CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B"]} |
A rare non-infectious posterior uveitis characterized by usually bilateral, chronic, progressive, recurrent inflammation of the choroid, retinal pigment epithelium, and choriocapillaris. In the classic or peripapillary geographic type of the disease, infiltrates originating in the peripapillary region progress in an irregular serpentine fashion centrifugally and resolve spontaneously after several weeks, leaving atrophic scars. Multiple recurrences, often with months to years of quiescence in between, result in progressive visual loss in one or both eyes.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Serpiginous choroiditis | c0729842 | 30,643 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=35686 | 2021-01-23T18:42:10 | {"gard": ["31"], "umls": ["C0729842"], "icd-10": ["H30.8"], "synonyms": ["Geographic helicoid peripapillary choroidopathy"]} |
A number sign (#) is used with this entry because the phenotype is caused by duplication of one or more genes within the chromosome 1q21.1 region (chr1: 145.0-146.4 Mb, NCBI36). The reciprocal deletion has been identified (612474).
Clinical Features
Among 8 patients with duplication of an approximately 1.35-Mb region of chromosome 1q21.1, identified through a screen of 5,218 patients with unexplained mental retardation, autism, or congenital anomalies, Mefford et al. (2008) observed that 4 of the 8 (50%) had autism or autistic behaviors, consistent with reported 1q21.1 duplication in patients with autism (Autism Genome Project Consortium, 2007). Two patients were initially identified among 141 patients with autism, suggesting even greater enrichment in this population. Other common phenotypic features of the 8 duplication carriers included mild to moderate mental retardation in 5 (62.5%), macrocephaly or relative macrocephaly in 4 (50%), and mild dysmorphic features in 5 (62.5%).
Brunetti-Pierri et al. (2008) identified 17 probands with the 1q21 microduplication syndrome. The microduplication was shown to have been inherited in most cases where parental samples were available for analysis. Affected individuals had normal growth but manifested macrocephaly. The mean frontal occipital circumference (FOC) Z score for the microduplication cases (probands, parents and sibs carrying the microduplication) was 0.95 (95% confidence interval = 0.06; 1.83), which was statistically different from the population mean (1-sample T test, p less than 0.05). Some individuals with the 1q21 microduplication manifested other congenital anomalies, autism, attention deficit-hyperactivity disorder (ADHD), and hypotonia.
Dolcetti et al. (2013) performed a systematic review of 22 studies reporting 107 individuals (59 children and 48 adults) with 1q21.1 duplication and reported on 7 adult cases identified in studies of schizophrenia and tetralogy of Fallot at University of Toronto. Five cases were ascertained as controls, 32 as relatives of probands, and 70 as having clinical features including 15 with autism spectrum disorder (ASD), 12 with congenital heart disease, 10 with schizophrenia, and 33 with other, mostly developmental, features. The 1q21.1 duplication was significantly enriched in the cohorts with schizophrenia (p = 0.0155) and tetralogy of Fallot (p = 0.0040) at the University of Toronto as compared with controls. Besides the presenting features, the most common feature were macrocephaly and abnormalities of possible connective tissue origin (e.g., carpal tunnel syndrome).
Bernier et al. (2016) compared the phenotype of 19 patients with a 1q21.1 deletion (612474) and 19 patients with a 1q21.1 duplication who were ascertained through clinical genetic testing. Deletion and duplication carriers shared several features, including borderline cognitive functioning, impaired fine and gross motor functioning, articulation abnormalities, and hypotonia. In deletion cases, the most common psychiatric disorders included internalizing disorders, such as mood and anxiety disorders (26%). The most commonly reported nonneurologic medical problems included short stature (50%), cataracts (33%), and cardiac problems (33%). In duplication carriers, the most common psychiatric/developmental disorders included ASD (41%), ADHD (29%), and intellectual disability (29%). The most commonly reported nonneurologic medical problems included scoliosis (36%), short stature (27%), and gastric ulcers (27%). Whereas microcephaly was prevalent in deletion carriers, macrocephaly was common in duplication carriers.
Molecular Genetics
Mefford et al. (2008) identified duplication of chromosome 1q21.1 in 9 children with mental retardation or autism spectrum disorder and other variable features out of a sample of 5,218 patients. The duplication was then identified in 3 additional patients in an independent sample of 788 patients with mental retardation and congenital anomalies. One of the 9 patients with the duplication carried an additional large chromosomal abnormality and was excluded from further analysis. Of the remaining 8 patients with duplication, 2 had inheritance from an unaffected father, 2 had de novo duplication (parent of origin not known), and 4 did not have parental DNA available for analysis. The duplication was found in 1 of 4,737 controls.
Brunetti-Pierri et al. (2008) suggested that the HYDIN paralog located on chromosome 1q21 (HYDIN2; 610813) is a dosage-sensitive gene responsible for the macrocephaly seen in 17 microduplication carriers studied by them. The authors also implicated the HYDIN2 gene in the microcephaly seen in carriers of the reciprocal microdeletion (612474).
To investigate large copy number variants (CNVs) segregating at rare frequencies (0.1 to 1.0%) in the general population as candidate neurologic disease loci, Itsara et al. (2009) compared large CNVs found in their study of 2,500 individuals with published data from affected individuals in 9 genomewide studies of schizophrenia, autism, and mental retardation. They found evidence of association of duplication at chromosome 1q21 with autism, mental retardation, and schizophrenia (CNV p = 0.041). They identified 15 duplications in this region; 12 of these were disease-associated.
Sahoo et al. (2011) analyzed 38,779 individuals referred to the diagnostic laboratory for microarray testing for the presence of copy number variants encompassing 20 putative schizophrenia susceptibility loci. They also analyzed the indications for study for individuals with copy number variants overlapping those found in 6 individuals referred for schizophrenia. After excluding larger gains or losses that encompassed additional genes outside the candidate loci (e.g., whole-arm gains/losses), Sahoo et al. (2011) identified 1,113 individuals with copy number variants encompassing schizophrenia susceptibility loci and 37 individuals with copy number variants overlapping those present in the 6 individuals referred for schizophrenia. Of these, 1,035 had a copy number variant of 1 of 6 recurrent loci: 1q21.1 (612474), 15q11.2 (608636), 15q13.3 (612001), 16p11.2 (611913), 16p13.11 (610543, 613458), and 22q11.2 (192430, 608363). Sahoo et al. (2011) identified 113 individuals with the 1q21.1 duplication; 7 were de novo, 19 maternally inherited, 11 paternally inherited, and 76 were of unknown inheritance. The average age at diagnosis was 8.7 years, with an age range of 0.1 to 38.5 years. The indications for study included developmental delay, autism, failure to thrive, dysmorphic features, seizures, congenital heart disease, polydactyly, and macrocephaly. Sahoo et al. (2011) reported observing the 1q21.1 microduplication in 113 of 23,250 cases sent to their lab. There were 3 carriers of the 1q21.1 microduplication among 5,674 controls for a frequency of 0.02% (Itsara et al., 2009) (p less than 0.0001). This microduplication had not previously been reported in a schizophrenia population, but in a case-control comparison of variable neurodevelopmental deficits was seen in 0.17% of cases versus 0.02% of controls, as reported by Vassos et al. (2010). Sahoo et al. (2011) concluded that the results from their study, the largest genotype-first analysis of schizophrenia susceptibility loci to that time, suggested that the phenotypic effects of copy number variants associated with schizophrenia are pleiotropic and imply the existence of shared biologic pathways among multiple neurodevelopmental conditions.
Kaminsky et al. (2011) presented the largest copy number variant case-control study to that time, comprising 15,749 International Standards for Cytogenomic Arrays cases and 10,118 published controls, focusing on recurrent deletions and duplications involving 14 copy number variant regions. Compared with controls, 14 deletions and 7 duplications were significantly overrepresented in cases, providing a clinical diagnosis as pathogenic. The 1q21.1 duplication was identified in 28 cases and 3 controls for a p value of 0.0004 and a frequency of 1 in 562 cases.
INHERITANCE \- Autosomal dominant \- Isolated cases GROWTH Height \- Normal height HEAD & NECK Head \- Macrocephaly (half of cases) Face \- Mild dysmorphism \- Frontal bossing Eyes \- Hypertelorism NEUROLOGIC Central Nervous System \- Hypoplasia of corpus callosum and cerebellar vermis \- Mental retardation, mild-moderate (some) \- Learning disabilities \- Seizures (rare) Behavioral Psychiatric Manifestations \- Autism \- Schizophrenia MISCELLANEOUS \- Incomplete penetrance MOLECULAR BASIS \- Caused by a 1.35-Mb duplication of chromosome 1q21 ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| CHROMOSOME 1q21.1 DUPLICATION SYNDROME | c2675891 | 30,644 | omim | https://www.omim.org/entry/612475 | 2019-09-22T16:01:24 | {"doid": ["0060435"], "mesh": ["C567290"], "omim": ["612475"], "orphanet": ["250994"]} |
A number sign (#) is used with this entry because Weill-Marchesani syndrome-2 (WMS2) is caused by heterozygous mutation in the FBN1 gene (134797) on chromosome 15q21.
Weill-Marchesani syndrome-2 is allelic to geleophysic dysplasia-2 (614185) and acromicric dysplasia (102370), the skeletal and joint features of which overlap with WMS, as well as Marfan syndrome (154700).
Description
Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and lens abnormalities (Faivre et al., 2002).
For a general phenotypic description and a discussion of genetic heterogeneity of WMS, see 277600.
Clinical Features
Probert (1953) described a family in which 4 sibs (3 females, 1 male) had spherophakia with brachydactyly, and one of their parents and many relatives had brachymorphism. The inheritance pattern was autosomal dominant. The authors noted the phenotypic similarities to Marfan syndrome.
Gorlin et al. (1974) reported a father and 2 children with WMS. Since the wife was short, this may be an example of backcross mating (homozygote with heterozygote). Jensen et al. (1974) referred to an affected father and daughter, and Young et al. (1986) reported affected mother and son.
Verloes et al. (1992) described an apparently autosomal dominant disorder with features resembling the autosomal recessive form of Weill-Marchesani syndrome (WMS1; 277600). Progressive joint stiffness, glaucoma, and lens dislocation occurred in 3 generations--grandfather, daughter, and grandson. The daughter was 159 cm tall, and the grandfather 169 cm tall. The grandfather had brachydactyly. Verloes et al. (1992) designated the disorder 'glaucoma-lens ectopia-microspherophakia-stiffness-shortness (GEMSS) syndrome' to distinguish it from 'classic' autosomal recessive WMS.
In a literature review of 128 cases of Weill-Marchesani syndrome, including 57 autosomal recessive cases, 50 autosomal dominant cases, and 21 sporadic cases, Faivre et al. (2003) found no significant differences in mode of inheritance for short stature, brachydactyly, thick skin, mild mental retardation (13% of all patients), myopia, or glaucoma. Some differences were found for microspherophakia (94% in AR, 74% in AD), ectopia lentis (64% in AR, 84% in AD), joint limitations (49% in AR, 77% in AD), and cardiac anomalies (39% in AR, 13% in AD). Some heterozygotes for the AR form presented with some mild clinical manifestations of the disease. However, Faivre et al. (2003) concluded that there is general clinical homogeneity despite genetic heterogeneity in WMS.
Mapping
Because ectopia lentis is one of the main manifestations of WMS, Wirtz et al. (1996) proposed fibrillin-1 as a candidate gene for the disorder. They examined 2 affected families, including the one reported by Gorlin et al. (1974). In both families, evidence suggestive of linkage was obtained with markers on chromosome 15q21, with a maximum 2-point lod score of 2.11 for D15S118 at theta = 0. Immunohistochemical examination showed a decrease in fibrillin staining in the dermal-epidermal junctions and in the papillary dermis.
Molecular Genetics
In the affected family reported by Gorlin et al. (1974), Faivre et al. (2003) identified heterozygosity for a 24-bp deletion in the FBN1 gene (134797.0040) which cosegregated with the disease. No mutation in the FBN1 gene was detected in the affected family reported by Wirtz et al. (1996).
INHERITANCE \- Autosomal dominant GROWTH Height \- Short stature, proportionate \- Adult male height 142-169 cm \- Adult female height 130-157 cm Other \- Muscular build HEAD & NECK Head \- Brachycephaly Face \- Maxillary hypoplasia Eyes \- Severe myopia \- Glaucoma (in 80% of patients) \- Ectopia lentis (84%) \- Blindness \- Microspherophakia (small, spherical lens) (74%) \- Shallow anterior chamber \- Cataract (28%) Nose \- Depressed nasal bridge Mouth \- Narrow palate Teeth \- Malformed teeth \- Malaligned teeth CARDIOVASCULAR Heart \- Cardiac anomalies (13%) \- Mitral valve insufficiency \- Aortic valve stenosis \- Pulmonary valve stenosis \- Ductus arteriosus \- Ventricular septal defect CHEST Ribs Sternum Clavicles & Scapulae \- Wide ribs SKELETAL \- Joint stiffness (hands, shoulder, elbows, knees, and ankles) \- Joint limitations Skull \- Broad skull \- Small shallow orbits Spine \- Scoliosis \- Increased lumbar lordosis \- Narrow spinal canal Limbs \- Thin cortices Hands \- Broad hands \- Brachydactyly \- Broad metacarpals \- Broad phalanges Feet \- Broad metatarsals SKIN, NAILS, & HAIR Skin \- Thick skin (74%) NEUROLOGIC Central Nervous System \- Mental retardation, mild (18%) MISCELLANEOUS \- See ( 277600 ) for a phenotypically similar autosomal recessive form MOLECULAR BASIS \- Caused by mutation in the fibrillin-1 gene (FBN1, 134797.0040 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| WEILL-MARCHESANI SYNDROME 2 | c1869115 | 30,645 | omim | https://www.omim.org/entry/608328 | 2019-09-22T16:07:57 | {"doid": ["0050475"], "mesh": ["D056846"], "omim": ["608328"], "orphanet": ["2084", "3449"], "synonyms": ["Alternative titles", "WEILL-MARCHESANI SYNDROME, AUTOSOMAL DOMINANT", "SPHEROPHAKIA-BRACHYMORPHIA SYNDROME", "MESODERMAL DYSMORPHODYSTROPHY, CONGENITAL", "GLAUCOMA-LENS ECTOPIA-MICROSPHEROPHAKIA-STIFFNESS-SHORTNESS SYNDROME"], "genereviews": ["NBK1114"]} |
Diabetic cheiroarthropathy
Other namesLimited Joint Mobility, or LJM
SpecialtyDermatology
Diabetic cheiroarthropathy, also known as Diabetic stiff hand syndrome or limited joint mobility syndrome, is a cutaneous condition characterized by waxy, thickened skin and limited joint mobility of the hands and fingers, leading to flexion contractures, a condition associated with diabetes mellitus[1]:681 and it is observed in roughly 30% of diabetic patients with longstanding disease.[2]:540 [3] It can be a predictor for other diabetes-related complications and was one of the earliest known complications of diabetes, first documented in 1974.[4]
In the fingers, diabetic cheiroarthropathy can cause such extreme limited mobility that the patient is unable to fully extend the fingers in order to flatten the hand. Typically, both hands are afflicted by diabetic cheiroarthropathy, with most patients finding stiffness beginning in the little finger and spreading to the thumb. Most times, just smaller, more fragile joints are affected by it, with larger joints usually only being affected in patients with more severe or more advanced cases of diabetes.
Cheiroarthropathy has been reported in over 50% of insulin-dependent diabetic patients and approximately 75% of non insulin-dependent diabetes. Cheiroarthropathy occurs most often among patients with a longer history of diabetes and patients with a history of diabetic neuropathy.
## Treatment[edit]
Diabetic cheiroarthropathy can be treated with pain relievers, anti-inflammatory medications, joint and muscle stretching exercises or physical/occupational therapy, and better glucose monitoring and control.
## See also[edit]
* Diabetic dermadromes
* Necrobiosis lipoidica
* List of cutaneous conditions
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
2. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
3. ^ http://www.medicinetoday.com.au/public/journals/1/c0701Diabetic%20cheiroarthropathy.jpg
4. ^ Lindsay, J. R.; Kennedy, L.; Atkinson, A. B.; Bell, P. M.; Carson, D. J.; McCance, D. R.; Hunter, S. J. (2005). "Reduced Prevalence of Limited Joint Mobility in Type 1 Diabetes in a U.K. Clinic Population over a 20-Year Period". Diabetes Care. 28 (3): 658–661. doi:10.2337/diacare.28.3.658.
* v
* t
* e
Diabetes
Types
* Type 1
* Type 2
* LADA
* Gestational diabetes
* Diabetes and pregnancy
* Prediabetes
* Impaired fasting glucose
* Impaired glucose tolerance
* Insulin resistance
* KPD
* MODY
* Neonatal
* Transient
* Permanent
* Type 3c (pancreatogenic)
* Type 3
Blood tests
* Blood sugar level
* Glycosylated hemoglobin
* Glucose tolerance test
* Postprandial glucose test
* Fructosamine
* Glucose test
* C-peptide
* Noninvasive glucose monitor
* Insulin tolerance test
Management
* Diabetic diet
* Anti-diabetic drugs
* Insulin therapy
* intensive
* conventional
* pulsatile
* Cure
* Embryonic stem cells
* Artificial pancreas
* Other
* Gastric bypass surgery
Complications
* Diabetic comas
* Hypoglycemia
* Ketoacidosis
* Hyperosmolar hyperglycemic state
* Diabetic foot
* ulcer
* Neuropathic arthropathy
* Organs in diabetes
* Blood vessels
* Muscle
* Kidney
* Nerves
* Retina
* Heart
* Diabetic skin disease
* Diabetic dermopathy
* Diabetic bulla
* Diabetic cheiroarthropathy
* Neuropathic ulcer
* Hyperglycemia
* Hypoglycemia
Other
* Glossary of diabetes
* History of diabetes
* Notable people with type 1 diabetes
This cutaneous condition article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Diabetic cheiroarthropathy | c0406685 | 30,646 | wikipedia | https://en.wikipedia.org/wiki/Diabetic_cheiroarthropathy | 2021-01-18T18:56:38 | {"wikidata": ["Q5270135"]} |
A number sign (#) is used with this entry because of evidence that this form of common variable immunodeficiency, referred to here as CVID6, is caused by homozygous mutation in the CD81 gene (186845) on chromosome 11p. One such patient has been reported.
For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594).
Clinical Features
Van Zelm et al. (2010) reported a 6-year-old Moroccan girl, born of consanguineous parents, who had recurrent respiratory tract infections in the first 2 years of life. At age 3.5 years, she developed an acute glomerulonephritis with proteinuria, a purpuric rash, and arthralgias, associated with deposition of IgA and C3 (120700) and resulting in renal failure. She also had hepatomegaly and thrombocytopenia associated with antiplatelet antibodies. Laboratory studies showed hypogammaglobulinemia with decreased IgG, low to normal IgA, and normal IgM. There was no antibody response to either tetanus or pneumococcal antigens. Flow cytometric studies showed normal levels of B, T, and NK cells, but B cells lacked CD19 (107265) and CD81 surface expression, and there were decreased numbers of memory B cells. Van Zelm et al. (2010) noted the phenotypic similarities to patients with CD19 defects resulting in CVID3 (613493).
Molecular Genetics
In a Moroccan girl with common variable immunodeficiency, van Zelm et al. (2010) identified a homozygous mutation in the CD81 gene (186845.0001).
INHERITANCE \- Autosomal recessive RESPIRATORY \- Respiratory infections, recurrent GENITOURINARY Kidneys \- Glomerulonephritis, autoimmune SKIN, NAILS, & HAIR Skin \- Purpura HEMATOLOGY \- Thrombocytopenia, autoimmune IMMUNOLOGY \- Recurrent bacterial infections \- Hypogammaglobulinemia \- Normal numbers of B cells \- Reduced numbers of memory B cells \- B cells lack surface CD19 and CD81 expression \- Defective antibody production \- Normal numbers of T cells LABORATORY ABNORMALITIES \- Low serum IgG and IgA \- Low or normal serum IgM MISCELLANEOUS \- Onset in early childhood \- One patient has been reported (as of July 2010) MOLECULAR BASIS \- Caused by mutation in the CD81 antigen gene (CD81, 186845.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| IMMUNODEFICIENCY, COMMON VARIABLE, 6 | c0009447 | 30,647 | omim | https://www.omim.org/entry/613496 | 2019-09-22T15:58:30 | {"doid": ["12177"], "mesh": ["D017074"], "omim": ["613496"], "orphanet": ["1572"], "synonyms": ["Alternative titles", "ANTIBODY DEFICIENCY DUE TO CD81 DEFECT"]} |
Illustration showing the position of the parietal lobe of the brain, the site of damage related to visual extinction.
Visual extinction is a neurological disorder which occurs following damage to the parietal lobe of the brain. It is similar to, but distinct from, hemispatial neglect. Visual extinction has the characteristic symptom of difficulty to perceive contralesional stimuli when presented simultaneously with an ipsilesional stimulus, but the ability to correctly identify them when not presented simultaneously. Under simultaneous presentation, the contralesional stimulus is apparently ignored by the patient, or extinguished. This deficiency may lead to difficulty on behalf of the patient with processing the stimuli’s 3D position.[1][2]
## Contents
* 1 History
* 2 Physiological basis
* 3 Characteristics
* 4 Diagnosis
* 5 Treatment
* 6 Society & Culture
* 7 Visual Extinction and Image Preprocessing
* 8 Future & Research
* 9 References
* 10 External links
## History[edit]
Visual Extinction is the result of unilateral cerebral damage[3] and has always been poorly understood. Researchers have been studying visual extinction in great depth since the 1990s. It has since been commonly associated with damage to the right hemisphere of the brain. Studies have suggested that visual extinction may be a result of sensory imbalance. This imbalance is due to weak or delayed afferent inputs in the hemisphere affected by the extinction.[1]
Research done by Pavlovskaya, Sagi, Soroker and Ring show that visual extinction is dependent on simple stimuli properties. These properties are thought to reflect connectivity constraints during the early steps of visual processing.[3]
## Physiological basis[edit]
Visual extinction arises from damage to the parietal lobe of the brain. This damage most frequently arises following a stroke or other infarction in that area – however, any traumatic event sufficient to cause widespread tissue damage in the area may cause sufficient harm. Although both sides of the brain are vulnerable to such damage, it is more unusual for extinction to occur when the left hemisphere is damaged than the right.[4]
When presented with simultaneous stimuli, the patient will ignore the contralesional stimuli, and only report the ipsilesional. Their ability to report the stimuli correctly when presented singly indicates that this is not a problem with vision per se. This bias against contralesional stimuli is evident even when patients are presented with two signals within the ipsilesional visual field, whose processing remains intact following the damage, since it is done in the opposite brain hemisphere. This implies that extinction can be somewhat controlled by biasing the point of visual fixation contralesionally, such that all relevant stimuli are contained within the functioning side of the visual field, findings supported in experiment[5]
Fatigue and habituation effects have previously been connected to visual extinction; experiments such as those done by Vuilleumier and Rafal eliminate the connection of these effects with visual extinction.[1]
Historically, it was believed that the parietal damage weakened afferent neuron input to the visual cortex, and so the extinction event was caused by the signals originating in the contralesional field being lost during transmission. However, this does not account for the ability of extinction patients being able to correctly identify contralesional stimuli in isolation. A more current theory is called the "race theory."
Race theory holds that stimuli are competing for processing power within the brain. Following parietal damage, all contralesional messages are lowered in priority for the brain’s processing in some way – potentially by signal transmission delay – such that when presented with alternative stimuli, the contralesional stimulus doesn’t arrive at the decision center simultaneously with the ipsilesional stimulus, and thus is denied conscious processing.
The race theory sees some support in findings by Marzi et al.,[6] where patients who show extinction also display aggravated delays in their reaction time to stimuli, both when compared to patients who have other forms of right-brain damage and undamaged patients. In the study, patients were shown to be able to focus their attention and improve reaction time, but still have subnormal performance. This theory is given further support by Gorea and Sagi’s inducing of extinction-like events in undamaged patients when presented with simultaneous stimuli of different intensities, with the lower intensity stimulus being extinguished by the mere presence of the high intensity stimulus.[7]
Extinction frequency may also be affected by reporting method, due to how visual processing interacts with the rest of the brain.[8] Reported extinctions drop when the patient is told to relay the extinction news by a method other than speaking – particularly, the use of the eyes in a feedback loop (looking to the side if there is a single stimuli, and up if there are two). This may work by eliminating the need for hemispheric transfer of information – routing the response to the motor cortex instead of the visual cortex – and so shortening the path and response time, a conclusion supported by increased detection of isolated contralesional stimuli under such circumstances.
Although extinction is compared with hemispatial neglect, the two are different disorders. It is possible to exhibit one without the other, and the neural basis for each appears to be different, hemispatial neglect arising from tempo-parietal junction damage. Although patients may exhibit these disorders simultaneously, this occurs in less than half of the afflicted population.[4]
## Characteristics[edit]
* When measuring the ERP of the right parietal lobe during extinction events, EEGs do not display the P1 or N1 waves otherwise evidenced in healthy bilateral response.[6]
* When presented with stimuli, eye saccades from fixation point are more common in extinction patients, are longer in duration, and show ipsilesional bias in movement.[6]
* Some evidence for a slight increase in detection of eccentric stimuli in the ipsilesional visual field – i.e. slightly improved peripheral vision.[6]
* Patients show increased difference in reaction time (crossed-uncrossed difference) for processing in contralesional and ipsilesional visual hemispheres.[6]
## Diagnosis[edit]
Diagnosis is achieved through several related methods. One approach involves having patients sit in front of a computer screen, on which either stars or triangles are projected simultaneously in different areas of the screen. Patients are then asked to identify the locations and identities of the shapes.[1] Another similar approach is to project colored letters on the screen, again asking patients to identify the letter and color in different parts of the screen.[9] From this information, a diagnosis of visual extinction can be attained. A positive diagnosis results from a patient's inability to correctly identify shapes or letters projected simultaneously in different areas of the screen. However, the most common test for visual extinction is the finger confrontation model. In this test, the doctor asks the patient to note which of his hands have moving fingers. This can be used immediately following a stroke, for the doctor’s quick diagnosis.
## Treatment[edit]
Without any sort of treatment, visual extinction usually worsens in severity of symptoms or remains completely stagnant. Simple exercises, such as reading and copying tasks, can be useful in treating the symptoms and increasing brain activity, though the damaged area can never be completely healed since the dead brain cells do not regenerate. An individual should keep up with exercises designed to maintain or improve function in order to create the best chance of improvement and/or maintenance at his or her current state.[4][10]
Treatment methods for patients who suffer from visual extinction generally involve use and training of an individual's vision. A doctor may instruct a patient to scan rows of lights in different ways in an attempt to regenerate function. Some light boards do exist that are used specifically to aid this task. Other methods exist that are designed to force the patient to focus on multiple stimuli at the same time.[1] These cueing and scanning methods do yield results, but they are not consistent across all patients. In successful cases, generally forty hours of retraining the patients' vision were necessary as well as some additional work done at home with similar exercises.[10]
Other computer scanning methods of treatment were shown to be effective with specialized equipment designed specifically for scanning and cueing exercises to force patients to focus on multiple stimuli simultaneously.[3] Again, the results of these methods were not consistent, but in laboratory settings rehabilitation was successful. Of the individuals who recovered some function, not all maintained the function they recovered, losing it after about five months.[10]
In another, single-stimulus rehabilitatory approach, the patient is shown a computer screen with a box in each corner and a fixation cross at the center. When a stimulus appears in any of the boxes, the patient is instructed to indicate seeing it as quickly as possible. This task is eased somewhat by an indicating icon before the stimulus – either an arrow that points to the box the stimulus is most likely (but not guaranteed) to be in, or a cross to indicate that the stimulus could appear in any box. Following thirty hour-long sessions, patients demonstrated a significant decrease in both extinction and hemispatial neglect.[11]
In patients whose brain damage was in the right hemisphere, left limb activation (LLA) was another treatment that proved effective.[12] The theory behind this method of treatment is that any use of the damaged side of the brain will enhance all functions related to the damaged hemisphere and that use of the opposite (healthy) side will only cause further impairment. LLA therefore is merely the concentrated use of the left side of the body in patients whose damage is in the right hemisphere (since the right hemisphere controls the left side of the body). This forces the patient to exercise spatial awareness using the damaged side of the brain, increasing activity around the lesion. While generally a treatment used for visual neglect (a different but related neurological disorder), LLA still increases brain activity around damaged area in patients with visual extinction and generates improvement in some patients. The reason this treatment does not work in some cases of visual extinction is that damage can be on either side of the brain as opposed to in visual neglect where the damage is always on the right.[4][10]
## Society & Culture[edit]
This condition does not inhibit patients from social interaction. In fact, most people would not be able to distinguish a visual extinction patient from a non-visual extinction patient in passing. Patients have selective spatial interactions, typically within the range of six degrees of the angle of vision. When two visual stimuli are presented to a patient, they can be processed as a single object due to the corresponding neuronal functions which are linked through long-range lateral interactions. Visual Extinction is often mistaken for attentional deficit. Some researchers believe visual extinction may be connected to a restriction in attention capacity.[6] Attention allows a person to identify and react to pertinent objects in space, while ignoring other irrelevant objects. Patients with visual extinction, especially those with unilateral damage to the right parietal lobe, may be unable to attend and orient to objects in collateral space, therefore presenting neglect to visual stimuli.[1]
A delay in reaction time is observed in many patients, but it is unknown whether this is a primary result of the stroke or resulting from the visual extinction. Detrimental social aspects may be repercussions of the stroke, which caused the visual extinction, but not from the visual extinction condition alone.
## Visual Extinction and Image Preprocessing[edit]
Visual extinction has been involved in several studies regarding preprocessing of images in the brain. A study performed by Dr Vuilleumier examined the effect of using faces as the stimulus in studying an extinction event. Subjects were presented with two simultaneous stimuli – some combination of a schematic face, a shape, a word, and a scrambled face. Faces in the contralesional field were less likely to be extinguished than other stimuli, but faces in the ipsilesional field appeared to induce more extinction events. The appearance of a face was prioritized in attention, despite the handicap presented of extinction damage.[13]
Visual extinction has also been used to demonstrate brain bias towards gestalt processing. When presented with a figure containing illusory contours, patients were able to correctly report the presence of stimuli in both contralesional and ipsilesional hemispheres, due to their unconscious processing of the whole field to produce the illusion.[14] This experiment implied that the attention center prioritizes the visualization of surfaces over other stimuli – therefore, although under race model the ipsilesional stimuli should extinguish the contralesional, the creation of the gestalt takes priority over detection of both. Further, a study using Gabor signals (alternating blurred and noisy black and white bars, commonly used by opticians in diagnostic tests) investigated how the orientation of these signals affected their extinction rate.[15] Bilateral stimuli were least extinguished when both stimuli were oriented horizontally, although both stimuli being oriented vertically also showed a reduction in extinguishing rate when compared to one stimulus vertical and one horizontal – in what could be assumed by the brain to represent two different surfaces.
Combining the brain bias towards facial processing and surface discovery, a follow-up study by Dr. Vuilleumier exposed subjects to paired visual stimuli in three phases. In the initial phase, stimuli were simply bilateral pairs, and extinction frequency was measured. In the next stage, the stimuli were surrounded with an oval, so that they appeared to represent eyes in a face. The extinction rate for this appearance was greatly reduced. Finally, the patients were shown the stimuli minus the contextual oval – however, the reduced extinction rate persisted, as though the patients had learned to group these stimuli. The effect did not occur when the stimuli were surrounded by a nonoval shape, pointing towards facial processing as being the key to this phenomenon.[16]
Visual feedback has also been studied in relation to visual extinction. Patients were asked to touch a known target in a darkened room. A light attached to the patient’s hand was sometimes briefly illuminated, to provide information about where the hand was in relation to the target. In some of these trials, a distracting light was also lit, which induced an extinction event in the patient. Although the patient reported in such cases that he had not seen the indicator light on his hand, their performance was correspondingly better, similar to the results when visual feedback had been available. Although the patient was not cognizant of having received the information, they were able to correctly act upon it, in a manner similar to blindsight.[17]
Visual extinction has also been researched with regard to the effect of repetition on visual detection rate. Patients were shown a colored (red or green) letter (O or E), one to each visual field, and then asked variably to report the color or shape of one letter or the other. Extinction was found to be increased in the contralesional field when the patient was asked to report on a repeated characteristic – if both stimuli had been the same shape, or same color – regardless of whether the other characteristic had also been changed. This is another example of repetition blindness.[18]
## Future & Research[edit]
Researchers conduct studies involving first-episode stroke patients. These patients typically have unilateral cerebral damage and/or contralateral extinction.[3] Current research is focusing on the more detailed role of the parietal lobe in visual extinction.[19]
The ability to understand which factors in visual processing determine whether a contralesional event, occurring on the half of the patient's brain or body opposing the site of a lesion, is observed or eliminated can provide crucial insights connecting to the mechanisms of attention and operation.[1]
Routine eye examinations have begun to incorporate the knowledge of visual extinction. Such examinations screen for simple, unsuspected visual field defects or abnormalities, while screening for the more severe extinction, by testing all quadrants of the visual field. [20]
## References[edit]
1. ^ a b c d e f g Vuilleumier, PO, Rafal, RD (2000). "A systematic study of visual extinction: between- and within-field deficits of attention in hemispatial neglect". Brain 123,1263-1279.[1]
2. ^ "Neuroexam.com - Vision (CN II)." neuroexam.com - An interactive online guide to the neurologic examination. 30 Sep. 2009 [2]
3. ^ a b c d Pavlovskaya, Marina, Sagi, Dov, Soroker, Nachum, Ring Haim (1997). "Visual extinction and cortical connectivity in human vision". Cognitive Brain Research 6(2), 159-162.[3]
4. ^ a b c d Becker, E, Karnath, HO (2007). "Incidence of visual extinction after left versus right hemisphere stroke." Stroke 38(12), 3172-3174.[4]
5. ^ Shalev, L, Chajut, E, Humphreys, GW (2005). "Interactive perceptual and attentional limits in visual extinction". Neurocase 11(6), 452-462.[5]
6. ^ a b c d e f Marzi, CA, Girelli, M, Natale, E, Miniussi, C (2001). "What exactly is extinguished in unilateral visual extinction? Neurophysiological evidence." Neuropsychologia 39(12), 1354-1366.
7. ^ Gorea, A, Sagi, D (2002). "Natural Extinction: A criterion shift phenomenon." Visual Cognition 9, 913-936
8. ^ Smania, N, Martini, MC, Prior, M, Marzi, CA (1996). "Input and response determinants of visual extinction: A case study." Cortex 121, 1759-70.
9. ^ Rorden C, Jelsone L, Simon-Dack S, Baylis LL, Baylis GC (2009). "Visual extinction: The effect of temporal and spatial bias". Neuropsychologia 47,321-329.[6]
10. ^ a b c d Bailey, M, Riddoch, MJ, Crome, P (2002). "Treatment of visual neglect in elderly patients with stroke: A single-subject series using either a scanning and cueing strategy or a left-limb activation strategy". Physical Therapy 82.8, 782-797.[7]
11. ^ Ladavas, E, Menghini, G, Umilta, C. "On the Rehalibation of Hemispatial Neglect." In Riddoch & Humphreys (Ed.) Cognitive Neuropsychology and Cognitive Rehabilitation 151-172. East Sussex, UK: Lawrence Erlbaum Associateds Publishing.
12. ^ GA Eskes, B Butler, A McDonald, ER Harrison, SJ Phillips (2003). "Limb activation effects in hemispatial neglect" Archives of Physical Medicine and Rehabilitation 84(3), 323-328.[8]
13. ^ Vuilleumier, P (2000). "Faces call for attention: evidence from patients with visual extinction". Neuropsychologia 38(5), 693-700.
14. ^ Mattingley, JB, Davis, G, Driver, J (1997). "Preattentive filling-in of visual surfaces in parietal extinction." Science 275(5300), 671-674.
15. ^ Pavlovskaya, M, Sagi, D, Soroker, N, Ring, H (1997). "Visual extinction and cortical connectivity in human vision." Brain Res Cogn Brain Res 6(2), 159-162.
16. ^ Vuilleumier, P, Sagiv N (2001). "Two eyes make a pair: facial organization and perceptual learning reduce visual extinction." Neuropsychologia 39, 1144-1149.
17. ^ Schenk, T, Schindler, I, McIntosh, RD, Milner, AD (2005). "The use of visual feedback is independent of visual awareness: evidence from visual extinction." Experimental Brain Research 167(1), 95-102.
18. ^ Baylis, GC, Driver, J, Rafal, RD (1993). "Visual Extinction and Stimulus Repetition". Journal of Cognitive Neuroscience 5(4), 453-466.
19. ^ Alvarez, G, Batelli, L, Carlson, T, Pascual-Leone, A (2009). "The role of the parietal lobe in visual extinction studied with transcranial magnetic stimulation". Journal of Cognitive Neuroscience 21(10), 1946-1955. [9]
20. ^ Anderson, A, Shuey, N, Wall, M (2009). "Rapid confrontation screening for peripheral visual field defects and extinction". Clinical & Experimental Optometry : Journal of the Australian Optometrical Association 92(1), 45-8.[10]
## External links[edit]
* A systematic study of visual extinction in Brain Journal of Neurology
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
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*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
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*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
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*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Visual extinction | None | 30,648 | wikipedia | https://en.wikipedia.org/wiki/Visual_extinction | 2021-01-18T18:55:04 | {"wikidata": ["Q7936596"]} |
Congenital absence/hypoplasia of thumb is a rare developmental defect during embryogenesis characterized by underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb. The malformation may occur isolated, combined to other defects of the hand or upper limb, or as part of a multiple congenital anomaly syndrome.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Congenital hypoplasia of thumb | None | 30,649 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=294988 | 2021-01-23T17:34:48 | {"icd-10": ["Q71.3"], "synonyms": ["Congenital absence/hypoplasia of thumb", "Thumb hypodactyly", "Thumb oligodactyly"]} |
A number sign (#) is used with this entry because autosomal dominant distal hereditary motor neuronopathy type VIIa (HMN7A) is caused by heterozygous mutation in the SLC5A7 gene (608761) on chromosome 2q12.
See also HMN7B (607641), caused by mutation in the DCTN1 gene (601143) on chromosome 2p13.
Description
Distal hereditary motor neuronopathy type VIIa is an autosomal dominant neurologic disorder characterized by onset in the second decade of progressive distal muscle wasting and weakness affecting the upper and lower limbs and resulting in walking difficulties and hand grip. There is significant muscle atrophy of the hands and lower limbs. The disorder is associated with vocal cord paresis due to involvement of the tenth cranial nerve (summary by Barwick et al., 2012).
For a general phenotypic description and a discussion of genetic heterogeneity of distal HMN, see HMN type I (HMN1; 182960).
Clinical Features
Young and Harper (1980) described a large kindred with autosomal dominant inheritance of a peculiar form of spinal muscular atrophy and vocal cord paralysis. The disorder presented in the teens with small muscle wasting in the hands, particularly involving median nerve musculature. This was followed by distal muscle wasting and weakness in the lower limbs resulting in difficulty walking. Other features include pes cavus, hyporeflexia, and husky voice. Vocal cord paralysis was a characteristic and potentially hazardous feature.
Serratrice et al. (1984) reported a similar patient with a somewhat later onset. His sister (not examined) was said to be similarly affected. No information was available on their parents. Pridmore et al. (1992) reported a family with the combination of distal spinal muscular atrophy and vocal cord paralysis in at least 3 successive generations. Their family and the family of Young and Harper (1980) were Welsh.
Boltshauser et al. (1989) described 3 persons in successive generations, grandfather, daughter, and granddaughter, who likewise had distal spinal muscular atrophy associated with vocal cord paralysis. However, the 3 affected persons also had progressive sensorineural hearing loss. Electrophysiologic and histologic studies did not exclude the possibility of involvement of sensory neurons, a possibility that would make classification of this disorder as a form of spinal muscular atrophy untenable. Boltshauser et al. (1989) concluded that it is uncertain whether the disorder in their family represents the same disease entity as that reported by Young and Harper (1980), with variable hearing impairment, or whether it is a different disorder.
McEntagart et al. (2001) noted that distal HMN VII shows considerable overlap with HMSN IIc (CMT2C; 606071), but is distinguished by the presence of sensory involvement.
Inheritance
The transmission pattern of HMN type VII in the family reported by Young and Harper (1980) was consistent with autosomal dominant inheritance.
Mapping
McEntagart et al. (2001) performed linkage analysis in the large Welsh kindred described by Young and Harper (1980). A genomewide screen established linkage to 2q14. Analysis in a second family, previously reported by Pridmore et al. (1992), confirmed the linkage to 2q14, and haplotype analysis provided evidence for a founder mutation segregating in the 2 pedigrees. Indeed, further study demonstrated a genealogic connection. The maximum 3-point lod score in the combined pedigree was 7.49 at marker D2S274. The mutant gene in these families is presumably expressed in the spinal cord. Engrailed-1 (131290), a transcription factor strongly expressed in the spinal cord, was excluded as a candidate gene.
Dick et al. (2008) refined the dHMN-VII locus in the family reported by Young and Harper (1980) using 2 newly affected individuals. Two distinct regions on chromosome 2q14.2, comprising 9.2 Mb and 4.3 Mb separated by an unusual double recombination event, cosegregated with the disease phenotype. The proximal linked region was defined by markers D2S3038-D2S160, and the distal region by D2S2970-D2S2969.
Molecular Genetics
In affected members of a large multigenerational Welsh family with HMN7A reported by McEntagart et al. (2001), Barwick et al. (2012) identified a heterozygous truncating mutation in the SLC5A7 gene (608761.0001). The mutation, which was identified by exome sequencing and segregated with the disorder in this family, was not found in genomic databases. In vitro functional expression assays showed that the mutation resulted in reduced protein levels and reduced choline transport, and exhibited a dominant-negative effect when coexpressed with the wildtype cDNA. Given the role of SLC5A7 at the neuromuscular junction (NMJ), Barwick et al. (2012) commented on the lack of features usually associated with congenital myasthenic syndromes (see, e.g., 608931), which are caused by mutations in genes involved in synaptic transmission at the NMJ.
Animal Model
Ferguson et al. (2004) disrupted the Cht gene in mice. Although morphologically normal at birth, Cht -/- mice became immobile, breathed irregularly, appeared cyanotic, and died within an hour. Hemicholinium 3-sensitive choline uptake and subsequent ACh synthesis were specifically lost in Cht -/- mouse brains. There was also a time-dependent loss of spontaneous and evoked responses at Cht -/- neuromuscular junctions. Consistent with defects in synaptic ACh availability, Cht -/- mice had developmental changes in neuromuscular junction morphology reminiscent of changes in mutant mice lacking ACh synthesis. Adult Cht +/- mice overcame reductions in Cht protein levels and sustained choline uptake activity at wildtype levels through posttranslational mechanisms.
INHERITANCE \- Autosomal dominant RESPIRATORY Larynx \- Vocal cord paresis SKELETAL Feet \- Pes cavus NEUROLOGIC Peripheral Nervous System \- Distal limb muscle weakness due to peripheral neuropathy \- Distal limb muscle atrophy due to peripheral neuropathy \- Difficulty walking \- Difficulty with hand grip \- Tremor (in some patients) \- Hyporeflexia \- Vocal cord paresis \- Intact sensation \- Normal motor nerve conduction velocity VOICE \- Hoarse voice due to vocal cord paresis MISCELLANEOUS \- Onset in second decade \- Wasting of hands often occurs first \- Slow progression \- Clinical overlap with Charcot-Marie-Tooth disease type 2C ( 606071 ) MOLECULAR BASIS \- Caused by mutation in the solute carrier family 5 (choline transporter), member 7 gene (SLC5A7, 608761.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA | c1834703 | 30,650 | omim | https://www.omim.org/entry/158580 | 2019-09-22T16:37:57 | {"doid": ["0111201"], "mesh": ["C563562"], "omim": ["158580"], "orphanet": ["139589"], "synonyms": ["HARPER-YOUNG MYOPATHY", "SPINAL MUSCULAR ATROPHY, DISTAL, WITH VOCAL CORD PARALYSIS", "Alternative titles", "Distal spinal muscular atrophy with vocal cord paralysis", "NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA", "DHMNVP", "dHMN7", "DHMN7A", "HMN VIIA"]} |
Opioid-induced hyperalgesia[1] (OIH) or opioid-induced abnormal pain sensitivity,[2] also called paradoxical hyperalgesia,[3] is a phenomenon associated with the long-term use of opioids such as morphine,[4] oxycodone,[5] and methadone.[6][7] OIH is characterized as generalized pain that is not necessarily confined to the affected site.[8] Over time, individuals taking opioids can develop an increasing sensitivity to noxious stimuli, even evolving a painful response to previously non-noxious stimuli (allodynia).[8] Some studies on animals have also demonstrated this effect occurring after only a single high dose of opioids.[9]
Tolerance, another condition that can arise from prolonged exposure to opioids, can often be mistaken for opioid-induced hyperalgesia and vice versa, as the clinical presentation can appear similar. Although tolerance and opioid-induced hyperalgesia both result in a similar need for dose escalation to receive the same level of effect to treat pain, they are nevertheless caused by two distinct mechanisms.[10] The similar net effect makes the two phenomena difficult to distinguish in a clinical setting. Under chronic opioid treatment, a particular individual's requirement for dose escalation may be due to tolerance, opioid-induced hyperalgesia, or a combination of both. In tolerance, there is a lower sensitivity to opioids, which occurs via two major theories: decreased receptor activation (desensitization of antinociceptive mechanisms) and opioid receptor down-regulation (internalization of membrane receptors).[11] In opioid-induced hyperalgesia, sensitization of pronociceptive mechanisms occurs, resulting in a decrease in the pain threshold, or allodynia.[12] In addition, what appears to be opioid tolerance can be caused by opioid-induced hyperalgesia lowering the baseline pain level, thus masking the drug's analgesic effects.[13] Identifying the development of hyperalgesia is of great clinical importance since patients receiving opioids to relieve pain may paradoxically experience more pain as a result of treatment. Whereas increasing the dose of opioid can be an effective way to overcome tolerance, doing so to compensate for opioid-induced hyperalgesia may worsen the patient's condition by increasing sensitivity to pain while escalating physical dependence.[citation needed]
This “uncommon but important phenomenon [can be] seen with high-dose opioid therapy.” [14] However, the conclusion of a report published in the Journal of Pain & Palliative Care Pharmacotherapy suggests that “[h]yperalgesia shares a common mechanism with tolerance and it may be that hyperalgesia is a manifestation of tolerance itself.” [15]
## Contents
* 1 Pharmacology
* 2 Pharmacogenomics
* 3 Mechanism of action
* 3.1 μ-opioid receptors
* 3.2 NMDA Receptors
* 3.3 Long-Term Potentiation
* 4 Management
* 5 Criticism
* 6 See also
* 7 References
## Pharmacology[edit]
See also: Opioid § Pharmacology
The pharmacology of opioids involves the substance binding to opioid receptors in the nervous system and other tissues. The three known and defined receptors are mu, kappa and delta, with many other receptors reported as well. These receptors are notable for binding opioids and eliciting an analgesic response, thus alleviating the sensation of pain. The mu opioid receptor is targeted most often by opioids to relieve pain.[16] Two of the most commonly used opioid antagonists at the mu receptor are naltrexone and naloxone.[17] The pharmacology for opioid-induced hyperalgesia is more complicated, and is believed to involve the activation of NMDA receptors and increased excitatory peptide neurotransmitters (such as cholecystokinin).[18]
## Pharmacogenomics[edit]
There is increasing evidence in support of genetics being a key factor in the development of OIH through its influence on both pain sensitivity and analgesic control. Current evidence indicates that the genetic influence stems from polymorphisms of the gene coding for the enzyme, Catechol-O-Methyltransferase (COMT). Its enzymatic activity varies depending on its three possible genotypes, which are seen as a single amino acid change from valine to methionine, resulting in significant variability in its activity. Degradation of the neurotransmitters, dopamine and noradrenaline, is approximately 4-fold greater when the amino acid presented is valine instead of methionine. This results in modulation of the dopaminergic and noradrenergic response at the synaptic level of neurons, which has been linked to having effects on memory function, anxiety, and pain sensitivity in comparison to individuals presenting as homozygous for valine alleles of this particular gene (COMTval158).[19]
A number of opioids undergo metabolism by cytochrome P450 enzymes in order to generate active metabolites. Only by generating these active metabolites can analgesic effects occur. The enzyme CYP2D6 is used to metabolize several opioids including codeine, methadone, hydrocodone, and tramadol. The level of expression of CYP2D6 can vary dramatically between different individuals. Individuals with low expression of CYP2D6 are designated as poor metabolizers while individuals with high expression of CYP2D6 are designated as ultra-rapid metabolizers. This information is important for healthcare professionals to know as it determines the dose of opioids a patient will need in order to achieve the desired analgesic effect. If given the same starting dose of codeine, an ultra-rapid metabolizer will feel very little pain relief while a poor metabolizer may feel a large reduction in pain. Conversely patients who are poor metabolizers should be given minimal amounts of opioids such as tramadol in order to avoid respiratory depression. Information regarding a patient's CYP2D6 expression can be found by running a genomic test such as 23andMe. This information is also helpful to healthcare professionals so they may modify the dosing of other drugs that may have drug-drug interactions with opioids such as rifampin.[20]
## Mechanism of action[edit]
The sensitization of pronociceptive pathways in response to opioid treatment appears to involve several pathways. Research thus far has primarily implicated the μ-opioid receptors (MOR) abnormal activation of NMDA receptors in the central nervous system, and long-term potentiation of synapses between nociceptive C fibers and neurons in the spinal dorsal horn.[21]
### μ-opioid receptors[edit]
In clinical trials, the MOR is the main target of opioid ligand binding. While binding of the opioid to the MOR typically causes analgesia, there can be instances where hyperalgesia occurs. [22] It has been speculated that the opposite analgesic and hyperanalgesic effects are due to different isoforms of the receptor. The MOR is a G protein-coupled receptor with seven transmembrane domains. Variants of the receptor have been discovered and are due to alternative splicing mechanisms.[23][24][25] A particular receptor variant, 6TM MOR, has been heavily studied because of its role in nociception. The 6TM MOR is missing residues in the N-terminal region which has implications for the extracellular tail and first transmembrane domain. This causes an excitatory effect compared to the inhibition in the normal seven transmembrane domain receptor because of differences in G-protein activation.[26] Studies on mice have shown silencing of the 6TM MOR variant decreased morphine-induced hyperalgesia which suggested G-protein coupling in the 6TM isoform could be a factor in the development of OIH.[25][27]
### NMDA Receptors[edit]
OIH shares commonalities with chronic pain in their neural mechanisms and specifically their usage of the glutaminergic system and NMDA glutamate receptors. NMDA receptors can be found presynaptically on central terminals of primary afferent neurons and postsynaptically on spinal dorsal horn neurons. [28] it has been shown experimentally that introduction of an NMDA receptor antagonist to mice and rats greatly reduces or even prevents OIH.[29]
B-arrestin 2 transcripts (Arrb2) are implicated in OIH because of their upregulation during analgesic tolerance in the periaqueductal gray, cortex and striatum.[30] NMDA receptor antagonists combined with morphine in OIH conditions have been shown to reduce Arr2b in the entirety of the mouse's brain. [31] These findings implicate Arr2b activity as a factor in OIH.
### Long-Term Potentiation[edit]
Long-Term Potentiation (LTP) is the increase in sensitivity of homosynapses that augment the synapse's strength and signal transduction. In the context of OIH, LTP has been shown to contribute to hyperalgesia by hypersensitizing areas of nociceptive processing, particularly at synapses between C fibers and the spinal cord dorsal horn. [32]Studies that attempted to link LTP and hyperalgesia have found that drugs able to block LTP (ketamine and minocycline) also decrease hyperalgesia.[33] In addition, LTP and OIH both utilize NMDA receptors and their activity can be reduced by NMDA receptor antagonists (i.e. ketamine).
## Management[edit]
Treatment of opioid tolerance and opioid-Induced hyperalgesia differs but it may be difficult to differentiate these two conditions in a clinical setting where most pain assessments are done through simple scale scores.[34] The treatment for OIH may be challenging because of the lack of adequate quality studies published, which is possibly due to the complexity in diagnosis of OIH and challenges in working with patients on chronic opioids. Currently there is no single best pharmacologic treatment for OIH and clinicians are advised to choose an appropriate therapy based on the unique clinical scenario and history of each patient.[34]
One general treatment option is to reduce or discontinue the dose of opioid to see if OIH is improved, although this could induce withdrawal symptoms that may initially increase pain.[34][19][8] Opioid sparing or opioid switching, which refers to the replacement of the current opioid with another pharmacological agent such as morphine or methadone, has been reported to be effective in some studies but this may also increase the sensitivity to pain, requiring higher doses of the opioid sparing drug.[35][citation needed] Ketamine, an NMDA antagonist, has been shown to prevent the extended use of opioid in post-operative hyperalgesia when it is infused in a small amount perioperatively along with the opioid but there are also studies that show ketamine being ineffective in modulating hyperalgesia.[citation needed] Methadone is also believed to show some efficacy in OIH, presumably due to its weak NMDA antagonist activity. The use of an NSAID, especially some COX-2 inhibitors, or acetaminophen either as monotherapy or combination therapy is also suggested as a possible treatment option.[34][19][8] a2 agonists, such as clonidine and dexmedetomidine, have been studied as alternatives or adjuncts to opioids for their analgesic properties in the perioperative setting.[36] They have been shown to decrease the need for opioids after surgery, which may reduce the risk of hyperalgesic effects associated with prolonged opioid use. However, there is currently insufficient data to support the clinical effectiveness of a2 agonists in reducing postoperative OIH.[36] Mesenchymal stem cell (MSC) therapy has shown efficacy in the prevention and treatment of OIH in animal studies.[37] Palmitoylethanolamide (PEA) has been studied for its anti-inflammatory and analgesic effects and emerging data suggests that it may have a role in delaying the onset of opioid tolerance and reducing the development of OIH when used in conjunction with opioids.[38]
## Criticism[edit]
In examining the published studies on opioid-induced hyperalgesia (OIH), Reznikov et al criticize the methodologies employed on both humans and animals as being far-removed from the typical regimen and dosages of pain patients in the real world.[39] They also note that some OIH studies were performed on drug addicts in methadone rehabilitation programs, and that such results are very difficult to generalize and apply to medical patients in chronic pain. In contrast, a study of 224 chronic pain patients receiving 'commonly-used' doses of oral opioids, in more typical clinical scenarios, found that the opioid-treated patients actually experienced no difference in pain sensitivity when compared to patients on non-opioid treatments. The authors conclude that opioid-induced hyperalgesia may not be an issue of any significance for normal, medically-treated chronic pain patients at all.[39]
Opioid-induced hyperalgesia has also been criticized as overdiagnosed among chronic pain patients, due to poor differential practice in distinguishing it from the much more common phenomenon of opioid tolerance.[40] The misdiagnosis of common opioid tolerance (OT) as opioid-induced hyperalgesia (OIH) can be problematic as the clinical actions suggested by each condition can be contrary to each other. Patients misdiagnosed with OIH may have their opioid dose mistakenly decreased (in the attempt to counter OIH) at times when it is actually appropriate for their dose to be increased or rotated (as a counter to opioid tolerance).[40]
The suggestion that chronic pain patients who are diagnosed as experiencing opioid-induced hyperalgesia ought to be completely withdrawn from opioid therapy has also been met with criticism. This is not only because of the uncertainties surrounding the diagnosis of OIH in the first place,[39] but because of the viability of rotating the patient between different opioid analgesics over time. Opioid rotation is considered a valid alternative to the reduction or cessation of opioid therapy,[41] and multiple studies demonstrate the rotation of opioids to be a safe and effective protocol.[42][43][44]
## See also[edit]
* Hyperkatifeia
## References[edit]
1. ^ Angst MS, Clark JD (March 2006). "Opioid-induced hyperalgesia: a qualitative systematic review". Anesthesiology. 104 (3): 570–87. doi:10.1097/00000542-200603000-00025. PMID 16508405. S2CID 1627656.
2. ^ Mao J (December 2002). "Opioid-induced abnormal pain sensitivity: implications in clinical opioid therapy". Pain. 100 (3): 213–7. doi:10.1016/S0304-3959(02)00422-0. PMID 12467992. S2CID 29187701.
3. ^ Lee SH, Cho SY, Lee HG, Choi JI, Yoon MH, Kim WM (January 2013). "Tramadol induced paradoxical hyperalgesia". Pain Physician. 16 (1): 41–4. PMID 23340532.
4. ^ Julie L. Cunningham (2013) Opioid induced hyperalgesia: A focus on opioid use in chronic pain. Mental Health Clinician: June 2013, Vol. 2, No. 12, pp. 395–397.
5. ^ BNM Group. 2014. Oxycodone (BNM) Data Sheet. 13 March 2014. URL: www.medsafe.govt.nz/profs/Datasheet/o/oxydoneBNMtab.pdf (accessed 22 July 2015).
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* v
* t
* e
Opioid receptor modulators
MOR
* Agonists (abridged; see here for a full list): 3-HO-PCP
* 7-Acetoxymitragynine
* 7-Hydroxymitragynine
* ψ-Akuammigine
* α-Chlornaltrexamine
* α-Narcotine
* Acetyldihydrocodeine
* Acetylfentanyl
* Acrylfentanyl
* Adrenorphin (metorphamide)
* AH-7921
* Akuammicine
* Akuammidine
* Alfentanil
* Anileridine
* Apparicine
* β-Endorphin
* BAM-12P
* BAM-18P
* BAM-22P
* Benzhydrocodone
* Benzylmorphine
* Bezitramide
* Biphalin
* BU08070
* Buprenorphine
* Butorphan
* Butorphanol
* Butyrfentanyl
* BW373U86
* Carfentanil
* Casokefamide
* Cebranopadol
* Chloroxymorphamine
* Codeine
* DADLE
* DAMGO (DAGO)
* Dermorphin
* Desmetramadol (desmethyltramadol)
* Desomorphine
* Dextromoramide
* Dextropropoxyphene (propoxyphene)
* Dezocine
* Dimenoxadol
* Dimethylaminopivalophenone
* Eluxadoline
* Diamorphine (heroin)
* Dihydrocodeine
* Dihydroetorphine
* Dihydromorphine
* Dinalbuphine sebacate
* Diphenoxylate
* Dipipanone
* Dynorphin A
* Embutramide
* Endomorphin-1
* Endomorphin-2
* Eseroline
* Ethylmorphine
* Etorphine
* Fentanyl
* Fluorophen
* Frakefamide
* Furanylfentanyl
* Hemorphin-4
* Herkinorin
* Hodgkinsine
* Hydrocodone
* Hydromorphinol
* Hydromorphone
* IBNtxA
* Ketamine
* Ketobemidone
* Kratom
* Laudanosine
* Lefetamine
* Leu-enkephalin
* Levacetylmethadol
* Levomethorphan
* Levorphanol
* Lexanopadol
* Loperamide
* Loxicodegol
* LS-115509
* Matrine
* Meptazinol
* Met-enkephalin (metenkefalin)
* Methadone
* Metkefamide
* Metopon
* Mitragynine
* Mitragynine pseudoindoxyl
* Morphiceptin
* Morphine
* Nalbuphine
* NalBzOH
* Nalmexone
* Naltalimide
* Neopine
* NFEPP
* Nicocodeine
* Nicodicodine
* Nicomorphine
* NKTR-181
* Norketamine
* Octreotide
* Oliceridine
* OM-3-MNZ
* Oripavine
* Oxycodone
* Oxymorphazone
* Oxymorphonazine
* Oxymorphone
* Oxymorphone phenylhydrazone
* OxyPNPH
* Papaver somniferum (opium)
* Pentazocine
* Pericine
* Pethidine (meperidine)
* Phenazocine
* Phencyclidine
* Piminodine
* Piritramide
* PL-017
* Prodine
* Propiram
* PZM21
* Racemethorphan
* Racemorphan
* Remifentanil
* Salsolinol
* SC-17599
* Sinomenine
* Sufentanil
* Tapentadol
* Tetrahydropapaveroline
* TH-030418
* Thebaine
* Thienorphine
* Tianeptine
* Tilidine
* Tramadol
* Trimebutine
* TRIMU 5
* TRV734
* Tubotaiwine
* U-47700
* Valorphin
* Viminol
* Xorphanol
* PAMs: BMS-986121
* BMS-986122
* Antagonists: (3S,4S)-Picenadol
* 2-(S)-N,N-(R)-Viminol
* 3CS-nalmefene
* 4-Caffeoyl-1,5-quinide
* 4′-Hydroxyflavanone
* 4',7-Dihydroxyflavone
* 6β-Naltrexol
* 6β-Naltrexol-d4
* 18-MC
* α-Gliadin
* β-Chlornaltrexamine
* β-Funaltrexamine
* Akuammine
* Alvimopan
* AM-251
* Apigenin
* AT-076
* Axelopran
* Bevenopran
* Catechin
* Catechin gallate
* Clocinnamox
* CTAP
* CTOP
* Cyclofoxy
* Cyprodime
* Diacetylnalorphine
* Diprenorphine
* ECG
* EGC
* Epicatechin
* Eptazocine
* Gemazocine
* Ginsenoside R
* Hyperoside
* Ibogaine
* Levallorphan
* Lobeline
* LY-255582
* LY-2196044
* Methocinnamox
* Methylnaltrexone
* Methylsamidorphan chloride
* Naldemedine
* Nalmefene
* Nalodeine (N-allylnorcodeine)
* Nalorphine
* Nalorphine dinicotinate
* Naloxazone
* Naloxegol
* Naloxol
* Naloxonazine
* Naloxone
* Naltrexazone
* Naltrexonazine
* Naltrexone
* Naltrindole
* Naringenin
* Noribogaine
* Oxilorphan
* Pawhuskin A
* Rimonabant
* Quadazocine
* Samidorphan
* Taxifolin
* Unknown/unsorted: Cannabidiol
* Coronaridine
* Cyproterone acetate
* Dihydroakuuamine
* Tabernanthine
* Tetrahydrocannabinol
DOR
* Agonists: 3CS-nalmefene
* 6'-GNTI
* 7-SIOM
* ADL-5747 (PF-04856881)
* ADL-5859
* Alazocine (SKF-10047)
* Amoxapine
* AR-M100390 (ARM390)
* AZD2327
* β-Endorphin
* BAM-18P
* Biphalin
* BU-48
* Butorphan
* Butorphanol
* BW373U86
* Casokefamide
* Cebranopadol
* Codeine
* Cyclazocine
* DADLE
* Deltorphin A
* Deltorphin I
* Deltorphin II
* Desmethylclozapine
* Desmetramadol (desmethyltramadol)
* Dezocine
* Diamorphine (heroin)
* Dihydroetorphine
* Dihydromorphine
* DPDPE
* DPI-221
* DPI-3290
* DSLET
* Ethylketazocine
* Etorphine
* Fentanyl
* FIT
* Fluorophen
* Hemorphin-4
* Hydrocodone
* Hydromorphone
* Ibogaine
* Isomethadone
* JNJ-20788560
* KNT-127
* Kratom
* Laudanosine
* Leu-enkephalin
* Levomethorphan
* Levorphanol
* Lexanopadol
* Lofentanil
* Met-enkephalin (metenkefalin)
* Metazocine
* Metkefamide
* Mitragynine
* Mitragynine pseudoindoxyl
* Morphine
* N-Phenethyl-14-ethoxymetopon
* Norbuprenorphine
* NalBzOH
* Oripavine
* Oxycodone
* Oxymorphone
* Pethidine (meperidine)
* Proglumide
* Racemethorphan
* Racemorphan
* RWJ-394674
* Samidorphan
* SB-235863
* SNC-80
* SNC-162
* TAN-67 (SB-205,607)
* TH-030418
* Thebaine
* Thiobromadol (C-8813)
* Tonazocine
* Tramadol
* TRV250
* Xorphanol
* Zenazocine
* Antagonists: 4',7-Dihydroxyflavone
* 5'-NTII
* 6β-Naltrexol
* 6β-Naltrexol-d4
* α-Santolol
* β-Chlornaltrexamine
* Apigenin
* AT-076
* Axelopran
* Bevenopran
* BNTX
* Catechin
* Catechin gallate
* Clocinnamox
* Diacetylnalorphine
* Diprenorphine
* ECG
* EGC
* Eluxadoline
* Epicatechin
* ICI-154129
* ICI-174864
* LY-255582
* LY-2196044
* Methylnaltrexone
* Methylnaltrindole
* N-Benzylnaltrindole
* Nalmefene
* Nalorphine
* Naltrexone
* Naltriben
* Naltrindole
* Naloxone
* Naringenin
* Noribogaine
* Pawhuskin A
* Quadazocine
* SDM25N
* SoRI-9409
* Taxifolin
* Thienorphine
* Unknown/unsorted: 18-MC
* Cannabidiol
* Coronaridine
* Cyproterone acetate
* Tabernanthine
* Tetrahydrocannabinol
KOR
* Agonists: 3CS-nalmefene
* 6'-GNTI
* 8-CAC
* 18-MC
* 14-Methoxymetopon
* β-Chlornaltrexamine
* β-Funaltrexamine
* Adrenorphin (metorphamide)
* Akuuamicine
* Alazocine (SKF-10047)
* Allomatrine
* Apadoline
* Asimadoline
* BAM-12P
* BAM-18P
* BAM-22P
* Big dynorphin
* Bremazocine
* BRL-52537
* Butorphan
* Butorphanol
* BW373U86
* Cebranopadol
* Ciprefadol
* CR665
* Cyclazocine
* Cyclorphan
* Cyprenorphine
* Desmetramadol (desmethyltramadol)
* Diamorphine (heroin)
* Diacetylnalorphine
* Difelikefalin
* Dihydroetorphine
* Dihydromorphine
* Dinalbuphine sebacate
* Diprenorphine
* Dynorphin A
* Dynorphin B (rimorphin)
* Eluxadoline
* Enadoline
* Eptazocine
* Erinacine E
* Ethylketazocine
* Etorphine
* Fedotozine
* Fentanyl
* Gemazocine
* GR-89696
* GR-103545
* Hemorphin-4
* Herkinorin
* HS665
* Hydromorphone
* HZ-2
* Ibogaine
* ICI-199,441
* ICI-204,448
* Ketamine
* Ketazocine
* Laudanosine
* Leumorphin (dynorphin B-29)
* Levallorphan
* Levomethorphan
* Levorphanol
* Lexanopadol
* Lofentanil
* LPK-26
* Lufuradom
* Matrine
* MB-1C-OH
* Menthol
* Metazocine
* Metkefamide
* Mianserin
* Mirtazapine
* Morphine
* Moxazocine
* MR-2034
* N-MPPP
* Nalbuphine
* NalBzOH
* Nalfurafine
* Nalmefene
* Nalodeine (N-allylnorcodeine)
* Nalorphine
* Naltriben
* Niravoline
* Norbuprenorphine
* Norbuprenorphine-3-glucuronide
* Noribogaine
* Norketamine
* Oripavine
* Oxilorphan
* Oxycodone
* Pentazocine
* Pethidine (meperidine)
* Phenazocine
* Proxorphan
* Racemethorphan
* Racemorphan
* RB-64
* Salvinorin A (salvia)
* Salvinorin B ethoxymethyl ether
* Salvinorin B methoxymethyl ether
* Samidorphan
* Spiradoline (U-62,066)
* TH-030418
* Thienorphine
* Tifluadom
* Tricyclic antidepressants (e.g., amitriptyline, desipramine, imipramine, nortriptyline)
* U-50488
* U-54,494A
* U-69,593
* Xorphanol
* Antagonists: 4′-Hydroxyflavanone
* 4',7-Dihydroxyflavone
* 5'-GNTI
* 6'-GNTI
* 6β-Naltrexol
* 6β-Naltrexol-d4
* β-Chlornaltrexamine
* Buprenorphine/samidorphan
* Amentoflavone
* ANTI
* Apigenin
* Arodyne
* AT-076
* Aticaprant
* Axelopran
* AZ-MTAB
* Binaltorphimine
* BU09059
* Buprenorphine
* Catechin
* Catechin gallate
* CERC-501 (LY-2456302)
* Clocinnamox
* Cyclofoxy
* Dezocine
* DIPPA
* EGC
* ECG
* Epicatechin
* Hyperoside
* JDTic
* LY-255582
* LY-2196044
* LY-2444296
* LY-2459989
* LY-2795050
* MeJDTic
* Methylnaltrexone
* ML190
* ML350
* MR-2266
* N-Fluoropropyl-JDTic
* Naloxone
* Naltrexone
* Naltrindole
* Naringenin
* Norbinaltorphimine
* Noribogaine
* Pawhuskin A
* PF-4455242
* RB-64
* Quadazocine
* Taxifolin
* UPHIT
* Zyklophin
* Unknown/unsorted: Akuammicine
* Akuammine
* Coronaridine
* Cyproterone acetate
* Dihydroakuuamine
* Ibogamine
* Tabernanthine
NOP
* Agonists: (Arg14,Lys15)Nociceptin
* ((pF)Phe4)Nociceptin(1-13)NH2
* (Phe1Ψ(CH2-NH)Gly2)Nociceptin(1-13)NH2
* Ac-RYYRWK-NH2
* Ac-RYYRIK-NH2
* BU08070
* Buprenorphine
* Cebranopadol
* Dihydroetorphine
* Etorphine
* JNJ-19385899
* Levomethorphan
* Levorphanol
* Levorphanol
* Lexanopadol
* MCOPPB
* MT-7716
* NNC 63-0532
* Nociceptin (orphanin FQ)
* Nociceptin (1-11)
* Nociceptin (1-13)NH2
* Norbuprenorphine
* Racemethorphan
* Racemorphan
* Ro64-6198
* Ro65-6570
* SCH-221510
* SCH-486757
* SR-8993
* SR-16435
* TH-030418
* Antagonists: (Nphe1)Nociceptin(1-13)NH2
* AT-076
* BAN-ORL-24
* BTRX-246040 (LY-2940094)
* J-113,397
* JTC-801
* NalBzOH
* Nociceptin (1-7)
* Nocistatin
* SB-612,111
* SR-16430
* Thienorphine
* Trap-101
* UFP-101
Unsorted
* β-Casomorphins
* Amidorphin
* BAM-20P
* Cytochrophin-4
* Deprolorphin
* Gliadorphin (gluteomorphin)
* Gluten exorphins
* Hemorphins
* Kava constituents
* MEAGL
* MEAP
* NEM
* Neoendorphins
* Nepetalactone (catnip)
* Peptide B
* Peptide E
* Peptide F
* Peptide I
* Rubiscolins
* Soymorphins
Others
* Enkephalinase inhibitors: Amastatin
* BL-2401
* Candoxatril
* D -Phenylalanine
* Dexecadotril (retorphan)
* Ecadotril (sinorphan)
* Kelatorphan
* Racecadotril (acetorphan)
* RB-101
* RB-120
* RB-3007
* Opiorphan
* Selank
* Semax
* Spinorphin
* Thiorphan
* Tynorphin
* Ubenimex (bestatin)
* Propeptides: β-Lipotropin (proendorphin)
* Prodynorphin
* Proenkephalin
* Pronociceptin
* Proopiomelanocortin (POMC)
* Others: Kyotorphin (met-enkephalin releaser/degradation stabilizer)
See also: Receptor/signaling modulators • Signaling peptide/protein receptor modulators
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Opioid-induced hyperalgesia | None | 30,651 | wikipedia | https://en.wikipedia.org/wiki/Opioid-induced_hyperalgesia | 2021-01-18T18:51:59 | {"wikidata": ["Q17146561"]} |
Chapare hemorrhagic fever, caused by the Chapare virus (a new arenavirus), discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004, is an acute viral hemorrhagic fever characterized by fever, myalgia, arthralgia, and multiple hemorrhagic signs. About a third of untreated cases go on to develop more severe symptoms with delirium, coma and convulsions and death (in one case). No other cases have been reported since.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Chapare hemorrhagic fever | c4274434 | 30,652 | orphanet | https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=319244 | 2021-01-23T18:12:22 | {"icd-10": ["A96.8"]} |
Spectrum of mood disorders
Not to be confused with Bipolar spectrum.
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Affective spectrum" – news · newspapers · books · scholar · JSTOR (May 2009) (Learn how and when to remove this template message)
The affective spectrum is a spectrum of affective disorders (mood disorders).[1] It is a grouping of related psychiatric and medical disorders which may accompany bipolar, unipolar, and schizoaffective disorders at statistically higher rates than would normally be expected. These disorders are identified by a common positive response to the same types of pharmacologic treatments. They also aggregate strongly in families and may therefore share common heritable underlying physiologic anomalies.
## Contents
* 1 Types
* 2 See also
* 3 Footnotes
## Types[edit]
Affective spectrum disorders include:
* Attention deficit hyperactivity disorder[2][3]
* Bipolar disorder
* Body dysmorphic disorder
* Bulimia nervosa[2][3] and other eating disorders
* Dysthymia[3]
* Generalized anxiety disorder[3]
* Impulse-control disorders
* Kleptomania
* Major depressive disorder[2][3]
* Obsessive-compulsive disorder[2][3]
* Oppositional defiant disorder
* Panic disorder[2][3]
* Posttraumatic stress disorder[3]
* Premenstrual dysphoric disorder[3]
* Social anxiety disorder[3]
The following may also be present as co-morbidities for affective mood disorders
* Chronic pain
* Intermittent explosive disorder[4]
* Pathological gambling
* Personality disorder
* Pyromania
* Substance abuse and addiction (includes alcoholism)
* Trichotillomania
* Irritable bowel syndrome[2][3]
* Fibromyalgia[3]
* Hypersexuality
* Migraine[2][3]
* Cataplexy[2][3]
Also, there are now studies linking heart disease.[5]
Many of the terms above overlap. The American Psychiatric Association's definitions of these terms can be found in the Diagnostic and Statistical Manual of Mental Disorders (DSM).
## See also[edit]
* Affect (psychology)
* Psychopathology
## Footnotes[edit]
1. ^ Renato D. Alarcon; William G. Walter-Ryan; Patricia A. Rippetoe (1987). "Affective spectrum disorders". Comprehensive Psychiatry. 28 (4): 292–308. doi:10.1016/0010-440X(87)90065-4. PMID 3608463.
2. ^ a b c d e f g h Hudson JI, Pope HG Jr (1990). "Affective spectrum disorder: does antidepressant response identify a family of disorders with a common pathophysiology?". Am J Psychiatry. 147 (5): 552–64. doi:10.1176/ajp.147.5.552. PMID 2183630.
3. ^ a b c d e f g h i j k l m n Hudson JI, Mangweth B, Pope HG Jr, De Col C, Hausmann A, Gutweniger S, Laird NM, Biebl W, Tsuang MT (1990). "Family study of affective spectrum disorder". Arch Gen Psychiatry. 60 (2): 170–7. doi:10.1001/archpsyc.60.2.170. PMID 12578434.
4. ^ McElroy SL, Soutullo CA, Beckman DA, Taylor P Jr, Keck PE Jr (1998). "DSM-IV intermittent explosive disorder: a report of 27 cases". J Clin Psychiatry. 59 (4): 203–10. doi:10.4088/jcp.v59n0411. PMID 9590677.
5. ^ Fenton WS, Stover ES (2006). "Mood disorders: cardiovascular and diabetes comorbidity". Curr Opin Psychiatry. 19 (4): 421–7. doi:10.1097/01.yco.0000228765.33356.9f. PMID 16721175.
* v
* t
* e
Emotions (list)
Emotions
* Acceptance
* Adoration
* Aesthetic emotions
* Affection
* Agitation
* Agony
* Amusement
* Anger
* Angst
* Anguish
* Annoyance
* Anticipation
* Anxiety
* Apathy
* Arousal
* Attraction
* Awe
* Boredom
* Calmness
* Compassion
* Confidence
* Contempt
* Contentment
* Courage
* Cruelty
* Curiosity
* Defeat
* Depression
* Desire
* Despair
* Disappointment
* Disgust
* Distrust
* Ecstasy
* Embarrassment
* Vicarious
* Empathy
* Enthrallment
* Enthusiasm
* Envy
* Euphoria
* Excitement
* Fear
* Flow (psychology)
* Frustration
* Gratification
* Gratitude
* Greed
* Grief
* Guilt
* Happiness
* Hatred
* Hiraeth
* Homesickness
* Hope
* Horror
* Hostility
* Humiliation
* Hygge
* Hysteria
* Indulgence
* Infatuation
* Insecurity
* Inspiration
* Interest
* Irritation
* Isolation
* Jealousy
* Joy
* Kindness
* Loneliness
* Longing
* Love
* Limerence
* Lust
* Mono no aware
* Neglect
* Nostalgia
* Outrage
* Panic
* Passion
* Pity
* Self-pity
* Pleasure
* Pride
* Grandiosity
* Hubris
* Insult
* Vanity
* Rage
* Regret
* Social connection
* Rejection
* Remorse
* Resentment
* Sadness
* Melancholy
* Saudade
* Schadenfreude
* Sehnsucht
* Self-confidence
* Sentimentality
* Shame
* Shock
* Shyness
* Sorrow
* Spite
* Stress
* Suffering
* Surprise
* Sympathy
* Tenseness
* Trust
* Wonder
* Worry
World views
* Cynicism
* Defeatism
* Nihilism
* Optimism
* Pessimism
* Reclusion
* Weltschmerz
Related
* Affect
* consciousness
* in education
* measures
* in psychology
* Affective
* computing
* forecasting
* neuroscience
* science
* spectrum
* Affectivity
* positive
* negative
* Appeal to emotion
* Emotion
* and art
* and memory
* and music
* and sex
* classification
* evolution
* expressed
* functional accounts
* group
* homeostatic
* perception
* recognition
* in conversation
* in animals
* regulation
* interpersonal
* work
* Emotional
* aperture
* bias
* blackmail
* competence
* conflict
* contagion
* detachment
* dysregulation
* eating
* exhaustion
* expression
* intelligence
* and bullying
* intimacy
* isolation
* lability
* labor
* lateralization
* literacy
* prosody
* reasoning
* responsivity
* security
* selection
* symbiosis
* well-being
* Emotionality
* bounded
* Emotions
* and culture
* in decision-making
* in the workplace
* in virtual communication
* history
* moral
* self-conscious
* social
* social sharing
* sociology
* Feeling
* Gender and emotional expression
* Group affective tone
* Interactions between the emotional and executive brain systems
* Meta-emotion
* Pathognomy
* Pathos
* Social emotional development
* Stoic passions
* Theory
* affect
* appraisal
* discrete emotion
* somatic marker
* constructed emotion
* v
* t
* e
Mood disorder
History
* Emil Kraepelin
* Karl Leonhard
* John Cade
* Mogens Schou
* Frederick K. Goodwin
* Kay Redfield Jamison
Symptoms
* Hallucination
* Delusion
* Emotional dysregulation
* Anhedonia
* Dysphoria
* Suicidal ideation
* Mood swing
* Sleep disorder
* Hypersomnia
* Insomnia
* Psychosis
* Racing thoughts
* Reduced affect display
* Depression (differential diagnoses)
Spectrum
* Bipolar disorder
* Bipolar I
* Bipolar II
* Cyclothymia
* Bipolar NOS
* Depression
* Major depressive disorder
* Dysthymia
* Seasonal affective disorder
* Atypical depression
* Melancholic depression
* Schizoaffective disorder
* Mania
* Mixed affective state
* Hypomania
* Major depressive episode
* Rapid cycling
Treatment
Anticonvulsants
* Carbamazepine
* Lamotrigine
* Oxcarbazepine
* Valproate
* Sodium valproate
* Valproate semisodium
Sympathomimetics,
SSRIs and similar
* Dextroamphetamine
* Methylphenidate
* Bupropion
* Sertraline
* Fluoxetine
* Escitalopram
Other mood stabilizers
* Antipsychotics
* Lithium
* Lithium carbonate
* Lithium citrate
* Lithium sulfate
* Lithium toxicity
* Atypical antipsychotics
Non-pharmaceutical
* Clinical psychology
* Electroconvulsive therapy
* Involuntary commitment
* Light therapy
* Psychotherapy
* Transcranial magnetic stimulation
* Cognitive behavioral therapy
* Dialectical behavior therapy
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Affective spectrum | None | 30,653 | wikipedia | https://en.wikipedia.org/wiki/Affective_spectrum | 2021-01-18T18:35:58 | {"wikidata": ["Q9089591"]} |
Bowenoid papulosis
SpecialtyDermatology
Bowenoid papulosis is a cutaneous condition characterized by the presence of pigmented verrucous papules on the body of the penis.[1]:730[2]:408 They are associated with human papillomavirus, the causative agent of genital warts.[3] The lesions have a typical dysplastic histology and are generally considered benign, although a small percentage will develop malignant characteristics.
It is considered as a pre-malignant condition. Other terms used to describe the condition are: Erythroplasia of Queyrat, Squamous cell carcinoma in situ and Bowen's disease. The term bowenoid papulosis was coined in 1977 by Kopf and Bart and is named after dermatologist John Templeton Bowen.[4][5][6] The term “intraepithelial neoplasia” defines a premalignant intraepithelial change.
On the vulva it is termed VIN (vulvar or vulval intraepithelial neoplasia); on the penis, PIN (penile intraepithelial neoplasia); and on or around the anus, AIN (anal intraepithelial neoplasia). The terminology has been very confusing and it is now recommended that the terms Bowen's disease, erythroplasia of Queyrat, and bowenoid papulosis should not be used for lesions in the anogenital area. However, dermatologists still recognize a distinct clinical variant, bowenoid papulosis, characterized by discrete papules in a younger age group and a tendency for spontaneous regression. Additionally, some authorities believe that erythroplasia of Queyrat and Bowen's disease remain useful terms in men.
## See also[edit]
* Skin lesion
* Sexually transmitted infection
## References[edit]
1. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
2. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
3. ^ Goorney BP, Polori R (December 2004). "A case of bowenoid papulosis of the penis successfully treated with topical imiquimod cream 5%". Int J STD AIDS. 15 (12): 833–5. doi:10.1258/0956462042563774. PMID 15601490.
4. ^ synd/3996 at Who Named It?
5. ^ Kopf AW, Bart RS (1977). "Tumor conference No. 11: multiple bowenoid papules of the penis: a new entity?". J Dermatol Surg Oncol. 3 (3): 265–9. doi:10.1111/j.1524-4725.1977.tb00289.x. PMID 874134.
6. ^ Wade TR, Kopf AW, Ackerman AB (October 1978). "Bowenoid papulosis of the penis". Cancer. 42 (4): 1890–903. doi:10.1002/1097-0142(197810)42:4<1890::AID-CNCR2820420430>3.0.CO;2-C. PMID 361215.
## External links[edit]
Classification
D
* DiseasesDB: 33257
External resources
* eMedicine: article/1131696
* v
* t
* e
Skin infections, symptoms and signs related to viruses
DNA virus
Herpesviridae
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Papillomaviridae
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* v
* t
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* Tumors of the male urogenital system
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Penis
* Carcinoma
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* v
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Skin cancer of the epidermis
Tumor
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* Forms
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SCC
* Forms
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tumors
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* Forms
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Other
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* Nevus unius lateris
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This infection-related cutaneous condition article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
This Epidermal nevi, neoplasms, cysts article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Bowenoid papulosis | c0334106 | 30,654 | wikipedia | https://en.wikipedia.org/wiki/Bowenoid_papulosis | 2021-01-18T18:39:18 | {"gard": ["5951"], "umls": ["C0334106"], "wikidata": ["Q895414"]} |
Beckwith-Wiedemann syndrome is a condition that affects many parts of the body. It is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal (macrosomia) and tend to be taller than their peers during childhood. Growth begins to slow by about age 8, and adults with this condition are not unusually tall. In some children with Beckwith-Wiedemann syndrome, specific parts of the body on one side or the other may grow abnormally large, leading to an asymmetric or uneven appearance. This unusual growth pattern, which is known as hemihyperplasia, usually becomes less apparent over time.
The signs and symptoms of Beckwith-Wiedemann syndrome vary among affected individuals. Some children with this condition are born with an opening in the wall of the abdomen (an omphalocele) that allows the abdominal organs to protrude through the belly-button. Other abdominal wall defects, such as a soft out-pouching around the belly-button (an umbilical hernia), are also common. Some infants with Beckwith-Wiedemann syndrome have an abnormally large tongue (macroglossia), which may interfere with breathing, swallowing, and speaking. Other major features of this condition include abnormally large abdominal organs (visceromegaly), creases or pits in the skin near the ears, low blood sugar (hypoglycemia) in infancy, and kidney abnormalities.
Children with Beckwith-Wiedemann syndrome are at an increased risk of developing several types of cancerous and noncancerous tumors, particularly a form of kidney cancer called Wilms tumor and a form of liver cancer called hepatoblastoma. Tumors develop in about 10 percent of people with this condition and almost always appear in childhood.
Most children and adults with Beckwith-Wiedemann syndrome do not have serious medical problems associated with the condition. Their life expectancy is usually normal.
## Frequency
Beckwith-Wiedemann syndrome affects 1 in 10,500 to 13,700 newborns worldwide. The condition may actually be more common than this estimate because some people with mild symptoms are never diagnosed.
## Causes
The genetic causes of Beckwith-Wiedemann syndrome are complex. The condition usually results from the abnormal regulation of genes in a particular region of chromosome 11. People normally inherit one copy of this chromosome from each parent. For most genes on chromosome 11, both copies of the gene are expressed, or "turned on," in cells. For some genes, however, only the copy inherited from a person's father (the paternally inherited copy) is expressed. For other genes, only the copy inherited from a person's mother (the maternally inherited copy) is expressed. These parent-specific differences in gene expression are caused by a phenomenon called genomic imprinting. Abnormalities involving genes on chromosome 11 that undergo genomic imprinting are responsible for most cases of Beckwith-Wiedemann syndrome.
At least half of all cases result from changes in a process called methylation. Methylation is a chemical reaction that attaches small molecules called methyl groups to certain segments of DNA. In genes that undergo genomic imprinting, methylation is one way that a gene's parent of origin is marked during the formation of egg and sperm cells. Beckwith-Wiedemann syndrome is often associated with changes in regions of DNA on chromosome 11 called imprinting centers (ICs). ICs control the methylation of several genes that are involved in normal growth, including the CDKN1C, H19, IGF2, and KCNQ1OT1 genes. Abnormal methylation disrupts the regulation of these genes, which leads to overgrowth and the other characteristic features of Beckwith-Wiedemann syndrome.
About twenty percent of cases of Beckwith-Wiedemann syndrome are caused by a genetic change known as paternal uniparental disomy (UPD). Paternal UPD causes people to have two active copies of paternally inherited genes rather than one active copy from the father and one inactive copy from the mother. People with paternal UPD are also missing genes that are active only on the maternally inherited copy of the chromosome. In Beckwith-Wiedemann syndrome, paternal UPD usually occurs early in embryonic development and affects only some of the body's cells. This phenomenon is called mosaicism. Mosaic paternal UPD leads to an imbalance in active paternal and maternal genes on chromosome 11, which underlies the signs and symptoms of the disorder.
Less commonly, mutations in the CDKN1C gene cause Beckwith-Wiedemann syndrome. This gene provides instructions for making a protein that helps control growth before birth. Mutations in the CDKN1C gene prevent this protein from restraining growth, which leads to the abnormalities characteristic of Beckwith-Wiedemann syndrome.
About 1 percent of all people with Beckwith-Wiedemann syndrome have a chromosomal abnormality such as a rearrangement (translocation), abnormal copying (duplication), or loss (deletion) of genetic material from chromosome 11. Like the other genetic changes responsible for Beckwith-Wiedemann syndrome, these abnormalities disrupt the normal regulation of certain genes on this chromosome.
### Learn more about the genes and chromosome associated with Beckwith-Wiedemann syndrome
* CDKN1C
* H19
* IGF2
* KCNQ1OT1
* chromosome 11
## Inheritance Pattern
In about 85 percent of cases of Beckwith-Wiedemann syndrome, only one person in a family has been diagnosed with the condition. However, parents of one child with Beckwith-Wiedemann syndrome may be at risk of having other children with the disorder. This risk depends on the genetic cause of the condition.
Another 10 to 15 percent of people with Beckwith-Wiedemann syndrome are part of families with more than one affected family member. In most of these families, the condition appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of an altered gene in each cell is typically sufficient to cause the disorder. In most of these cases, individuals with Beckwith-Wiedemann syndrome inherit the genetic change from their mothers. Occasionally, a person who inherits the altered gene will not have any of the characteristic signs and symptoms of the condition.
Rarely, Beckwith-Wiedemann syndrome results from changes in the structure of chromosome 11. Some of these chromosomal abnormalities are inherited from a parent, while others occur as random events during the formation of reproductive cells (eggs and sperm) or in the earliest stages of development before birth.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Beckwith-Wiedemann syndrome | c0004903 | 30,655 | medlineplus | https://medlineplus.gov/genetics/condition/beckwith-wiedemann-syndrome/ | 2021-01-27T08:25:42 | {"gard": ["3343"], "mesh": ["D001506"], "omim": ["130650"], "synonyms": []} |
A number sign (#) is used with this entry because of evidence that ectodermal dysplasia-12 (ECTD12) is caused by heterozygous mutation in the KDF1 gene (616758) on chromosome 1p36. One such family has been reported.
Description
Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.
Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011).
Clinical Features
Shamseldin et al. (2017) described a 3-generation nonconsanguineous Saudi family segregating an autosomal dominant form of hypohidrotic ectodermal dysplasia with involvement of hair, teeth, and nails. The proband was a 30-year-old woman who reported recurrent abscesses in the axillae and groin and decreased sweating. Examination showed lusterless scalp hair, thin lateral eyebrows, absent teeth, keratosis pilaris, marked accentuation of palmar creases, and multiple scars from healed lesions of hidradenitis suppurativa. Her fingernails were normal, but she had mild subungual hyperkeratosis of the toenails, with pincer nail deformity of the great toes. Her father, 4 sibs, and 1 son were similarly affected; her son also exhibited natal teeth.
Molecular Genetics
In affected members of a 3-generation Saudi family segregating autosomal dominant hypohidrotic ectodermal dysplasia, Shamseldin et al. (2017) identified heterozygosity for a missense mutation in the KDF1 gene (F251L; 616758.0001). The mutation, which was located within a haplotype exclusively shared by all 7 affected family members, segregated fully with disease in the family and was not found in 817 Saudi exomes or in the ExAC database. Shamseldin et al. (2017) noted that the knockout mouse phenotype described by Lee et al. (2013) (see 616758) was highly reminiscent of the phenotype in this family.
INHERITANCE \- Autosomal dominant HEAD & NECK Face \- Short philtrum (in some patients) Eyes \- Thinning of lateral eyebrows Nose \- Saddle nose \- Everted nostrils (in some patients) Teeth \- Absent teeth \- Natal teeth (rare) SKIN, NAILS, & HAIR Skin \- Decreased sweating \- Hidradenitis suppurativa \- Keratosis pilaris \- Accentuation of palmar creases Skin Histology \- Hypoplastic sweat glands \- Epidermal orthokeratosis \- Epidermal papillomatosis \- Follicular plugging \- Distorted follicular infundibulum Nails \- Subungual hyperkeratosis, primarily of toenails \- Pincer nail deformity of great toes \- Nail dystrophy Hair \- Lusterless scalp hair \- Irregular root sheath \- Thinning of lateral eyebrows MISCELLANEOUS \- Based on report of 1 family (last curated February 2017) MOLECULAR BASIS \- Caused by mutation in the keratinocyte differentiation factor-1 gene (KDF1, 616758.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE | c0265331 | 30,656 | omim | https://www.omim.org/entry/617337 | 2019-09-22T15:46:05 | {"omim": ["617337"], "orphanet": ["1810"]} |
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed.
Find sources: "Fibro-adipose vascular anomaly" – news · newspapers · books · scholar · JSTOR (July 2019)
Fibro-adipose vascular anomaly
Other namesFAVA
SpecialtyPediatrics, interventional radiology,
SymptomsPain, difficulty moving the affected limb, contracture, mild enlargement of the affected limb
Usual onsetLater childhood to young adulthood
CausesUnknown, potentially genetic
Diagnostic methodUltrasound, MRI
TreatmentPhysical therapy, surgical resection, cryoablation
MedicationSirolimus
Frequencyrare
Fibro-adipose vascular anomaly, also known as FAVA, is a type of vascular anomaly that is both rare and painful. FAVA is characterized by tough fibrofatty tissue taking over portions of muscle, most often contained within a single limb. FAVA also causes venous and/or lymphatic abnormalities.[1]
Though FAVA has only been recognized as a distinct vascular anomaly, separate from common venous malformations, within the past ten years, FAVA a distinct congenital disorder.[2]
## Contents
* 1 Signs and symptoms
* 2 Genetics
* 3 Diagnosis
* 4 Management
* 5 References
* 6 Further reading
## Signs and symptoms[edit]
Common symptoms of FAVA include severe pain and difficulty moving the affected limb, mild enlargement of the affected limb with visible veins, and contracture.[1]
In the cohort described by Alomari, et al.[3] from the Vascular Anomalies Center at Boston Children’s Hospital, FAVA was located, in descending order, in the calf, forearm/wrist and thigh. The most common presentation is severe pain. Calf lesions, particularly those located in the posterior compartment, are commonly associated with restricted ankle dorsiflexion (equinus contracture).[citation needed]
## Genetics[edit]
No one knows what causes FAVA, though recent research revealed mutations in a gene called PIK3CA in some — but not all — cases.[4] PIK3CA is a gene in the receptor tyrosine kinase phosphatidylinositol 3-kinase (PI3)-AKT growth-signaling pathway. The PIK3CA gene is located on the long (q) arm of chromosome 3.[5]
There has been no evidence to suggest that FAVA is inherited or passed along in families.[6][1]
## Diagnosis[edit]
FAVA is most often diagnosed in older children, teens and young adults, though it has been diagnosed earlier and later in a patient's life.[1]
The constellation of clinical, radiologic, and histopathologic findings typically allow the diagnosis of FAVA.[7] The most helpful imaging studies are ultrasonography (US) and magnetic resonance imaging (MRI). The major imaging features of FAVA include the presence of complex intramuscular solid lesion replacing normal muscle fibers with fibrofatty overgrowth and phlebectasia. The extrafascial part is composed of fatty overgrowth, phlebectasia, and occasional lymphatic malformation. The histopathologic findings in FAVA include dense fibrous tissue, fat, and lymphoplasmacytic aggregates within atrophied skeletal muscle. Adipose tissue within skeletal muscles are associated with large, irregular, and sometimes excessively muscularized venous channels and smaller, clustered channels.[3] Organizing thrombi, lymphatic foci and enlarged nerves encircled by dense fibrous tissue are also frequently noted in FAVA.
## Management[edit]
Some FAVA patients develop limb contracture; in these cases early orthopedic consultation is necessary. Achilles tendon lengthening (heel-cord release) and physical therapy can be helpful for treating equinus contracture.[8]
Unlike classical venous malformations, pain in FAVA is multifactorial and clinical response to sclerotherapy of the venous component can be less effective.[9] While intralesional steroid injections and nerve block may offer temporary or partial pain relief, the source of pain is often the solid intramuscular lesion. Surgical resection and image-guided percutaneous cryoablation may offer an effective control of pain in FAVA lesions.[10][7] Sirolimus has been effective in improving the quality of life in some people with FAVA.[11]
## References[edit]
1. ^ a b c d "Fibro-Adipose Vascular Anomaly (FAVA) | Boston Children's Hospital". www.childrenshospital.org. Retrieved 2020-01-31.
2. ^ Alomari AI, Spencer SA, Arnold RW, Chaudry G, Kasser JR, Burrows PE, et al. (January 2014). "Fibro-adipose vascular anomaly: clinical-radiologic-pathologic features of a newly delineated disorder of the extremity". Journal of Pediatric Orthopedics. 34 (1): 109–17. doi:10.1097/BPO.0b013e3182a1f0b8. PMID 24322574. S2CID 22919252.
3. ^ a b Alomari AI, Spencer SA, Arnold RW, Chaudry G, Kasser JR, Burrows PE, et al. (January 2014). "Fibro-adipose vascular anomaly: clinical-radiologic-pathologic features of a newly delineated disorder of the extremity". Journal of Pediatric Orthopedics. 34 (1): 109–17. doi:10.1097/BPO.0b013e3182a1f0b8. PMID 24322574. S2CID 22919252.
4. ^ Luks VL, Kamitaki N, Vivero MP, Uller W, Rab R, Bovée JV, et al. (April 2015). "Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA". The Journal of Pediatrics. 166 (4): 1048–54.e1–5. doi:10.1016/j.jpeds.2014.12.069. PMC 4498659. PMID 25681199.
5. ^ "PIK3CA". Genetics Home Reference.
6. ^ Alomari AI, Spencer SA, Arnold RW, Chaudry G, Kasser JR, Burrows PE, et al. (January 2014). "Fibro-adipose vascular anomaly: clinical-radiologic-pathologic features of a newly delineated disorder of the extremity". Journal of Pediatric Orthopedics. 34 (1): 109–17. doi:10.1097/BPO.0b013e3182a1f0b8. PMID 24322574. S2CID 22919252.
7. ^ a b "Fibro-Adipose Vascular Anomaly (FAVA) | Diagnosis & Treatment | Boston Children's Hospital". www.childrenshospital.org. Retrieved 2020-01-18.
8. ^ Fernandez-Pineda, Israel; Marcilla, David; Downey-Carmona, Francisco Javier; Roldan, Sebastian; Ortega-Laureano, Lucia; Bernabeu-Wittel, Jose (2014). "Lower Extremity Fibro-Adipose Vascular Anomaly (FAVA): A New Case of a Newly Delineated Disorder". Annals of Vascular Diseases. 7 (3): 317. doi:10.3400/avd.cr.14-00049. PMC 4180696. PMID 25298836.
9. ^ Fernandez-Pineda, Israel; Marcilla, David; Downey-Carmona, Francisco Javier; Roldan, Sebastian; Ortega-Laureano, Lucia; Bernabeu-Wittel, Jose (2014). "Lower Extremity Fibro-Adipose Vascular Anomaly (FAVA): A New Case of a Newly Delineated Disorder". Annals of Vascular Diseases. 7 (3): 319. doi:10.3400/avd.cr.14-00049. PMID 25298836.
10. ^ Shaikh R, Alomari AI, Kerr CL, Miller P, Spencer SA (July 2016). "Cryoablation in fibro-adipose vascular anomaly (FAVA): a minimally invasive treatment option". Pediatric Radiology. 46 (8): 1179–86. doi:10.1007/s00247-016-3576-0. PMID 26902298. S2CID 20061278.
11. ^ Erickson J, McAuliffe W, Blennerhassett L, Halbert A (November 2017). "Fibroadipose vascular anomaly treated with sirolimus: Successful outcome in two patients". Pediatric Dermatology. 34 (6): e317–e320. doi:10.1111/pde.13260. PMID 29144050. S2CID 20625518.
## Further reading[edit]
* Luks VL, Kamitaki N, Vivero MP, Uller W, Rab R, Bovée JV, et al. (April 2015). "Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA". The Journal of Pediatrics. 166 (4): 1048–54.e1–5. doi:10.1016/j.jpeds.2014.12.069. PMC 4498659. PMID 25681199.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
*[HHAT]: hedgehog acyltransferase
*[Hh]: Hedgehog
*[ABS]: amniotic band syndrome
| Fibro-adipose vascular anomaly | None | 30,657 | wikipedia | https://en.wikipedia.org/wiki/Fibro-adipose_vascular_anomaly | 2021-01-18T18:30:50 | {"wikidata": ["Q25111303"]} |