TaoMedAI/RareMedData huggingface dataset:
Hypotrichosis-deafness syndrome (ORPHA:330029)
A syndromic genetic deafness characterized by erythrokeratoderma, hypotrichosis, nail dystrophy and sensorineural hearing loss. Erythema, recurrent skin infections and mucositis have also been associated.
Hypotrichosis-intellectual disability, Lopes type (ORPHA:2266)
A rare ectodermal dysplasia syndrome characterized by hypotrichosis of scalp and eyebrows, finger syndactyly, intellectual disability and early eruption of teeth. Facial dysmorphism (i.e. round face with prominent forehead, cheeks and ears, and upward-slanting palpebral fissures), hypoplasia of median and distal phalanges, and kyphosis are additionally observed features. There have been no further descriptions in the literature since 1996.
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (ORPHA:69735)
An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms.
Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome (ORPHA:307936)
Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed.
Hypoxanthine guanine phosphoribosyltransferase partial deficiency (ORPHA:79233)
Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout.
Epidemiology
The exact prevalence is unknown but is probably underestimated due to misdiagnosis. KSS may represent about 15% of HPRT deficient patients.
Clinical description
Age of onset is usually in infancy but can also be in adulthood (up to 30 years). Males are generally affected and heterozygous females are carriers (usually asymptomatic). Patients are normal at birth. The first manifestation is the presence of orange crystals in diapers. Urolithiasis, uric acid nephropathy, urinary infections and renal obstruction are often the presenting symptoms. Gout may appear after puberty with acute arthritis or tophi. In contrast to Lesch-Nyhan syndrome (LNS; see this term), dystonia may be mild or even absent. Patients have normal intelligence associated with various degrees of attention deficit. Compulsive self-injurious behavior is absent.
Etiology
The disease is caused by partial HPRT deficiency due to mutations in the HPRT1 gene (Xq26). Inheritance is X-linked recessive. UAO may be due to deficient recycling of purine bases with increased synthesis of purine nucleotides leading to hyperuricemia that increases the risk of UA crystal precipitation in tissues to form tophi, in joints leading to inflammatory processes and gouty arthritis, and renal UA excretion causing urolithiasis.
Diagnostic methods
Diagnosis may be suspected when nephrolithiasis and/or obstructive nephropathy occur and is based on biochemical, enzymatic and molecular tests. Hyperuricemia and UAO are detectable in serum and urine. Plasmatic levels and urinary excretion of urate, hypoxanthine, and, to a lesser extent, xanthine are elevated. HPRT activity in hemolysate ranges from 0.5% to 10%.
Differential diagnosis
Differential diagnosis includes glucose 6-phosphate dehydrogenase deficiency, Lesch-Nyhan syndrome and phosphoribosylpyrophosphate (PRPP) synthetase superactivity (see these terms).
Antenatal diagnosis
Antenatal diagnosis is usually not required.
Management and treatment
UAO, nephrolithiasis, gouty arthritis and tophi can be managed with allopurinol, urine alkalinization (sodium bicarbonate or citrate) and generous hydration. Doses must be carefully adjusted to avoid xanthine lithiasis.
Prognosis
With appropriated treatment renal function remains stable and patients have a normal life expectancy.

                            Last update: 
                            April 2010


                            - Expert reviewer(s): 
                            Dr Juan GARCÍA PUIG  - Dr Rosa TORRES JIMÉNEZ
Hypoxanthine-guanine phosphoribosyltransferase deficiency (ORPHA:206428)
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency.
Epidemiology
Prevalence of HPRT deficiency is unknown but estimated prevalence for Lesch-Nyhan syndrome (LNS; see this term) is estimated between 1/380,000 and 1/235,000 live births. Males are generally affected and heterozygous females are carriers (usually asymptomatic).
Clinical description
Onset occurs during infancy. Two forms of the disease have been described: LNS, the most severe form, with a complete enzyme deficiency, and Lesch-Nyhan variants with partial HPRT deficiency. LNS is characterized by uric acid overproduction-related symptoms associated with urolithiasis and gout, severe neurological manifestations, hematological disturbances, and compulsive self-injurious behaviour. LNS patients have a limited life expectancy. In the less severely affected LNS variants, also termed Kelley-Seegmiller syndrome (KSS; see this term), uric acid overproduction-related symptoms are prominent, neurological manifestations are usually unapparent, compulsive self-injurious behaviour is absent and patients have a normal life expectancy.
Etiology
Inheritance is X-linked recessive and HPRT deficiency results from mutations in the HPRT1 gene (Xq26).

                            Last update: 
                            April 2010


                            - Expert reviewer(s): 
                            Dr Juan GARCÍA PUIG  - Dr Rosa TORRES JIMÉNEZ
Iatrogenic botulism (ORPHA:254509)
Iatrogenic botulism is the most recent man-made form of botulism (see this term), a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and it may occur as an adverse event after therapeutic or cosmetic use.
Epidemiology
Prevalence is unknown. As of 2008, 180 cases occurring between 1997 and 2006 have been reported to the FDA, including 87 hospitalized cases and 16 deaths.
Clinical description
Clinical manifestations are similar to other forms of botulism, with symmetrical cranial nerve palsies followed by descending, symmetric flaccid paralysis of voluntary muscles, which may progress to respiratory compromise and death.
Etiology
After injection, the toxin is absorbed into the blood stream and distributed throughout the body, causing the typical manifestations of botulism. Therapeutic BoNT injections are a first-line treatment for hemifacial spasm and focal dystonia, such as cervical dystonia and blepharospasm (see these terms). They can also be proposed to treat strabismus and other oculomotor disorders, focal spasticity (spastic foot, upper and lower limb spasticity), overactive bladder and autonomic disorders such as hyperhidrosis, Frey's syndrome and sialorrhea. BoNT injections may have a potential antinociceptive effect. Injected doses, that may be relatively high mostly in the treatment of lower limb spasticity, have caused events reported as adverse reactions including limited botulism-related symptoms (ptosis, diplopia, dysphagia), rare systemic events (flu-like syndrome, generalized weakness and respiratory distress) and occasional deaths following the use of BoNT types A and B. Doses recommended for cosmetic treatment are too low to cause systemic disease, but injection of unlicensed, highly concentrated botulinum toxin may cause severe botulism. All cases of botulism should be reported to the appropriate government agency.

                            Last update: 
                            April 2011


                            - Expert reviewer(s): 
                            Dr Michel POPOFF
Iatrogenic Creutzfeldt-Jakob disease (ORPHA:576379)
A rare acquired human prion disease characterized by progressive, invariably fatal neurodegeneration resulting from accidental transmission of CJD prions in the course of medical procedures or treatments (treatment with human pituitary growth hormone or gonadotrophin, human dura mater or corneal graft, exposure to contaminated neurosurgical instruments). Patients present rapidly progressive cognitive impairment, as well as myoclonus, visual or cerebellar problems, pyramidal or extrapyramidal features, and/or akinetic mutism. EEG examination may show characteristic generalized periodic sharp wave complexes. Neuropathologic analysis reveals spongiform change, neuronal loss and gliosis, and deposition of abnormal prion protein.
Ichthyosis hystrix of Curth-Macklin (ORPHA:79503)
Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis (see this term) that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK, see this term).
Epidemiology
Prevalence is unknown. Six families and sporadic cases have been reported to date.
Clinical description
The skin is usually normal at birth. The disease starts in early childhood with severe hyperkeratosis of yellow-brown or grey color, and of spiky, cobblestone-like (hystrix) or verrucous appearance. Hyperkeratosis is often diffuse and more pronounced on extensor areas of the limbs, extremities and the trunk. Lesions may also be nevoid following the lines of Blaschko. Patients are also affected with striate or diffuse PPK. As the disease progresses, PPK worsens and results in deep bleeding, painful fissures and cracks. In severe cases, PPK can also lead to contractures, gangrene and loss of digits. The skin is malodorous and frequently infected. Nail dystrophy may be present. Contrary to other keratinopathic ichthyoses, no skin fragility/blister formation or erythroderma is present.
Etiology
IHCM results from heterozygous frameshift mutation in a section of the KRT1 gene encoding keratin 1 (K1). These mutations lead to an abnormal supramolecular organization of keratin intermediate filaments and may be related to defects in cytoplasmic trafficking and integrity of cellular structures such as organelles and nucleus.
Diagnostic methods
Diagnosis is based on clinical examination and on histological examination of skin lesion biopsies revealing papillomatous hyperplasia with hyperorthokeratosis and hypergranulosis. Electron microscopy shows keratin intermediate filaments forming continuous perinuclear shells, presence of perinuclear vacuoles and binucleate keratinocytes.
Differential diagnosis
Differential diagnosis includes other forms of keratinopathic ichthyosis such as epidermolytic ichthyosis, as well as epidermolytic palmoplantar keratoderma, erythrokeratodermia variabilis, and KID syndrome (see these terms).
Antenatal diagnosis
Molecular prenatal diagnosis is available for affected families.
Genetic counseling
Transmission is autosomal dominant but some sporadic cases have been reported. The risk for an affected parent to have an affected child is of 50%.
Management and treatment
Management is symptomatic and life-long. Oral and systemic keratolytics can improve localized hyperkeratotic lesions by exfoliating and increasing the moisture of the skin.
Prognosis
Life expectancy is normal. However, the unaesthetic and malodorous aspects of the skin, the pain and bleeding related to PPK, and infections lead to functional disabilities and a greatly reduced quality of life.

                            Last update: 
                            December 2012


                            - Expert reviewer(s): 
                            Dr Nathalie JONCA  - Pr Juliette MAZEREEUW-HAUTIER
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome (ORPHA:2269)
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjögren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987.
Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome (ORPHA:2274)
Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterised by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked.
Ichthyosis-hypotrichosis syndrome (ORPHA:91132)
Ichthyosis-hypotrichosis syndrome is characterised by congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an autosomal recessive trait and is caused by a missense mutation in the ST14 gene, encoding the recently identified protease, matriptase. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation.
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome (ORPHA:2278)
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive.
Ichthyosis-oral and digital anomalies syndrome (ORPHA:2272)
Ichthyosis-oral and digital anomalies syndrome is characterised by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive.
Ichthyosis-prematurity syndrome (ORPHA:88621)
A rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy.
Ichthyosis-short stature-brachydactyly-microspherophakia syndrome (ORPHA:363992)
A rare, syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve dysplasia.
Idiopathic acute transverse myelitis (ORPHA:139423)
A rare immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement.
Epidemiology
Annual incidence is estimated at between 1/1,000,000 and 1/250,000 depending on the study. Onset may occur at any age and both sexes may be affected.
Clinical description
The spinal cord inflammation is focal and the signs and symptoms are usually bilateral and depend on the extent and site of the lesion, with the thoracic spinal cord being the most common localization. Progression to nadir occurs between 4 hours and 21 days after onset. Motor involvement is characterized by limb weakness, stiffness and muscle spasms. If the upper spinal cord is involved then respiratory function may be impaired. Back pain, paraesthesia, numbness and neuropathic pain are common sensory manifestations. Uncomfortable band-like sensations around the torso and radicular pain have also been reported. Autonomic anomalies include sexual dysfunction, urinary urge/retention and bowel urgency/retention. Autonomic dysreflexia (ADR), resulting in rapid onset of hypertension and bradycardia, is a complication seen in patients with spinal cord lesions at T6 or above and usually with severe myelitis.
Etiology
By definition, the etiology of idiopathic acute transverse myelitis (ATM) is unknown. A history of viral illness (usually upper respiratory infection) often precedes onset of symptoms by three weeks and idiopathic ATM is believed to be associated with a late immune response against a recent microbial infection that inadvertently targets the spinal cord.
Diagnostic methods
The diagnostic approach revolves around confirming the diagnosis of myelitis (MRI revealing transverse spinal cord lesions and swelling, with longitudinally extensive lesions in some cases), and excluding secondary causes (brain MRI, serology and analysis of cerebrospinal fluid to rule out secondary ATM; see this term), which may be associated with a relapsing disease course requiring preventative treatments.
Differential diagnosis
Acute compressive lesions (such as metastases and epidural abscess) and infarction of the spinal cord should also be included in the differential diagnosis.
Management and treatment
Acute treatment may include corticosteroid therapy and plasma exchange. The benefits of intravenous immunoglobulins and cyclophosphamide remain to be established. Long-term management is mainly symptomatic and should include rehabilitative therapy.
Prognosis
The prognosis is variable and unpredictable. Recovery may begin between 2 and 12 weeks after the onset of symptoms. Full recovery (occurring in only a third of patients) may take years and permanent sequelae are frequent (moderate disability in one third of patients and severe disability in the remaining third).

                            Last update: 
                            February 2009


                            - Expert reviewer(s): 
                            Dr Anu JACOB  - Dr Alison L JONES
Idiopathic avascular necrosis (ORPHA:399307)
A rare osteonecrosis characterized by bone necrosis due to disrupted blood supply in the absence of a known cause. Affected bones include the femoral head, talus, vertebral body, humerus, and scaphoid, among others. Patients may initially be asymptomatic but subsequently present with gradually developing refractory pain, swelling, and reduced range of motion. If left untreated, the condition may progress to bone collapse with secondary degeneration, fragmentation, and pathological fracture, as well as osteoarthritis.
Idiopathic bilateral vestibulopathy (ORPHA:171684)
Idiopathic bilateral vestibulopathy is a rare otorhinolaryngologic disease characterized by dysfunction of both peripheral labyrinths or of the eighth cranial nerves, which presents with persistent unsteadiness of gait (particularly in darkness, during eye closure or under impaired visual conditions, or when standing/walking on uneven, soft or wobbly ground) and oscillopsia associated with head movements. The disease may be progressive, presenting no episodes of vertigo, or sequential, presenting recurrent episodes of vertigo.
Idiopathic bronchiectasis (ORPHA:60033)
Idiopathic bronchiectasis (IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies).
Idiopathic camptocormia (ORPHA:1320)
Idiopathic camptocormia is a postural disease characterized by an anterior flexion of the torso (during walking or standing) that resolves in the supine position and that is caused by weakness of the lumbar paraspinal muscles (spinal extensors), due to massive fatty infiltrations of posterior spinal muscles, without an identifiable etiology.
Idiopathic CD4 lymphocytopenia (ORPHA:228000)
Idiopathic CD4 lymphocytopenia is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/µL on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.
Idiopathic chronic eosinophilic pneumonia (ORPHA:2902)
A rare, severe, interstitial lung disease characterized by insidious onset with subacute or chronic non-specific respiratory manifestations (dyspnea, cough, wheezing) often associated with systemic manifestations (fatigue, malaise, weight loss) and a history of asthma (up to half of patients). Eosinophilia is present in most cases, usually in excess of 1000 cells/mm3.
Idiopathic congenital hypothyroidism (ORPHA:95717)
Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism (see this term) whose cause and prevalence are unknown.
Clinical description
Clinical manifestations are those of other forms of congenital hypothyroidism (CH; see this term). Goiter is always absent.
Diagnostic methods
Ultrasound examination and thyroid scintigraphy show a thyroid gland of normal shape and size in the normal, eutopic location. Idiopathic congenital hypothyroidism can be diagnosed after exclusion of the known causes of CH.

                            Last update: 
                            August 2010


                            - Expert reviewer(s): 
                            Dr Stephen LAFRANCHI  - Dr Maynika RASTOGI
Idiopathic copper-associated cirrhosis (ORPHA:209919)
Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining.
Idiopathic dropped head syndrome (ORPHA:447881)
A rare acquired skeletal muscle disease characterized by severe weakness of the neck extensor muscles causing progressive reducible kyphosis of the cervical spine and the inability to hold the head up, in the absence of a known cause. Histological studies reveal a non-inflammatory myopathic picture. The clinical course is relatively benign, although cervical myelopathy may develop.
Idiopathic ductopenia (ORPHA:480512)
A rare biliary tract disease characterized by loss of interlobular bile ducts resulting in chronic cholestasis, without any known cause. Loss of less than 50% of interlobular bile ducts is associated with a mild disease course, while loss of the majority of ducts results in a severe form, potentially leading to cirrhosis and liver failure. Patients typically present as young or middle-aged adults with episodic jaundice, pruritus, and elevated liver enzymes.
Idiopathic eosinophilic myositis (ORPHA:247724)
A rare idiopathic inflammatory myopathy characterized by eosinophilic infiltration and inflammatory lesions of the skeletal muscle tissue, in the absence of an identifiable causative factor (e.g. parasitic infection, drug intake, systemic or malignant disease). Clinically patients may present focal or generalized muscle weakness and pain, difficulties to walk, motor clumsiness and/or mild bilateral Achilles tendon contracture , as well as elevated serum creatine kinase levels and peripheral blood and/or bone marrow hypereosinophilia.
Idiopathic gastroparesis (ORPHA:558411)
A rare idiopathic gastroesophageal disease characterized by delayed gastric emptying in the absence of mechanical obstruction of the gastric outlet. Patients present symptoms including nausea, vomiting, early satiety, postprandial fullness, bloating, abdominal pain and, in more severe cases, dehydration, electrolyte disturbances, weight loss and malnutrition.