TaoMedAI/RareMedData huggingface dataset:
GM1 gangliosidosis type 2 (ORPHA:79256)
GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age.
Epidemiology
Type 2 is a less frequent form of GM1 gangliosidosis compared to infantile type 1 disease but the exact prevalence, although unknown, is likely to be underestimated. Fewer than 50 cases have been reported to date. Overall prevalence at birth of GM1 gangliosidosis is estimated to be approximately 1:100,000 to 200,000 live births.
Clinical description
Patients with the childhood form of this disorder develop signs and symptoms of intermediate severity including locomotor disturbances, strabismus, muscle weakness, seizures, lethargy and lung infections. Compared to type 1, visceromegaly and skeletal anomalies are milder or may be absent. Macular cherry-red spots are infrequent. The course of the disorder is characterized by slower progression. Facial coarsening develops over time.
Etiology
GM1 gangliosidosis is caused by mutations in the GLB1 gene (3p22.3) coding for beta-galactosidase.
Diagnostic methods
Diagnosis is suggested by clinical signs, such as psychomotor regression and facial coarsening. Biochemical and/or genetic tests confirm the diagnosis.
Differential diagnosis
Differential diagnosis includes mucopolysaccharidoses, sphingolipidoses and oligosaccharidoses (see these terms).
Antenatal diagnosis
Prenatal diagnosis can be performed by analysis of beta-galactosidase activity and/or by GLB1 molecular analysis in either chorionic villus (CV) cells or amniotic fluid cells if mutations are identified in an index case.
Genetic counseling
GM1 gangliosidosis is an autosomal recessive disease. Genetic counseling should be provided to affected families.
Management and treatment
Treatment for patients with GM1 gangliosidosis is symptomatic and supportive.
Prognosis
Prognosis is poor with survival into mid-childhood or early adulthood.

                            Last update: 
                            May 2012


                            - Expert reviewer(s): 
                            Dr Anna CACIOTTI  - Dr Maria Alice DONATI  - Dr Amelia MORRONE
GM1 gangliosidosis type 3 (ORPHA:79257)
GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.
Epidemiology
Type 3 is a less frequent form of GM1 gangliosidosis compared to infantile type 1 disease but the exact prevalence, although unknown, is likely to be underestimated. About 70 cases have been reported to date. Overall prevalence at birth of GM1 gangliosidosis is estimated to be approximately 1:100,000 to 200,000 live births. Most reported cases are in patients of Japanese origin.
Clinical description
Marked variability of clinical signs and age of onset has been reported. Patients generally show slowly progressive dementia, dysarthria, dystonia, short stature, mild vertebral anomalies and ataxia. Eye movements are normal.
Etiology
GM1 gangliosidosis is caused by mutations in the GLB1gene (3p22.3) coding for beta-galactosidase.
Diagnostic methods
Diagnosis is clinically suggested by dystonia and slurred speech, usually detected at school age. Biochemical and/or molecular genetic tests confirm the diagnosis.
Differential diagnosis
Differential diagnosis includes mucopolysaccharidoses, sphingolipidoses and oligosaccharidoses (see these terms).
Antenatal diagnosis
Prenatal diagnosis can be performed by analysis of beta-galactosidase activity and/or by GLB1 molecular analysis in either chorionic villus (CV) cells or amniotic fluid cells if mutations are identified in an index case.
Genetic counseling
GM1 gangliosidosis is an autosomal recessive disease. Genetic counseling should be provided to affected families.
Management and treatment
Treatment for patients with GM1 gangliosidosis is symptomatic and supportive.
Prognosis
Prognosis is variable.

                            Last update: 
                            May 2012


                            - Expert reviewer(s): 
                            Dr Anna CACIOTTI  - Dr Maria Alice DONATI  - Dr Amelia MORRONE
GM2 gangliosidosis, AB variant (ORPHA:309246)
GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency.
GM3 synthase deficiency (ORPHA:370933)
GM3 synthase deficiency is a rare congenital disorder of glycosylation due to impaired synthesis of complex ganglioside species initially characterized by irritability, poor feeding, failure to thrive and early-onset refractory epilepsy, followed by postnatal growth impairment, severe developmental delay or developmental regression, profound intellectual disability, deafness and abnormalities of skin pigmentation (mostly freckle-like hyperpigmented and depigmented macules). Visual impairment due to cortical atrophy (visible on magnetic resonance imaging), choreoathetosis and hypotonic tetraparesis usually appear gradually. Dysmorphic facial features may be associated.
GMPPB-related limb-girdle muscular dystrophy R19 (ORPHA:363623)
A form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.
GMS syndrome (ORPHA:2090)
GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992.
GNAO1-related developmental delay-seizures-movement disorder spectrum (ORPHA:592564)
A rare genetic neurological disorder characterized by a phenotypic spectrum of mild to severe developmental delay and hypotonia, variably associated with intellectual disability, early-onset seizures, and movement disorders, such as dystonia, ataxia, chorea, and dyskinesia. Brain imaging may show delayed myelination, thin corpus callosum, or cerebral atrophy.
Gnathodiaphyseal dysplasia (ORPHA:53697)
Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission.
GNB5-related intellectual disability-cardiac arrhythmia syndrome (ORPHA:542306)
A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable.
Goblet cell carcinoma (ORPHA:329984)
Goblet cell carcinoma (GCC) is an aggressive type of endocrine tumor of the appendix (see this term) presenting equally in males and females in the fifth decade of life and manifesting with a palpable mass and abdominal pain or acute appendicitis. Metastasis to the ovaries, peritoneum or right colon has usually already occurred in half of patients at the time of diagnosis.
Goldmann-Favre syndrome (ORPHA:53540)
Goldmann-Favre syndrome (GFS) is a vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis).
Epidemiology
Less than 20 cases have been reported so far, some of them born to consanguineous families. Both sexes seem equally affected.
Clinical description
The onset is usually in childhood. GFS manifests with progressive loss of visual acuity and night blindness. Peripheral vision can be decreased. Cataract is a frequent complication. Optic atrophy has been occasionally reported. The vitreous changes are degenerative and may include microfibrillar strands, liquefaction and posterior vitreous detachment. The fundus features include annular pigmentary changes (clumped pigment deposits), central or peripheral retinoschisis, cystoid macular edema. The GFS features are usually bilateral and symmetrical. The electroretinogram (ERG) is abnormal: both rod and cone ERGs are markedly diminished and may be non-detectable. Patients may have an increased sensitivity to blue light due to increased S-cone sensitivity.
Etiology
Mutations in the NR2E3 gene (formerly called PNR) have been identified in some patients with GFS. NR2E3 (15q23) encodes a retinal nuclear receptor that is involved in the differentiation of photoreceptors. GFS, some forms of autosomal recessive and dominant retinitis pigmentosa and enhanced S-cone syndrome (ESCS) are caused by mutations in the NR2E3 gene.
Diagnostic methods
Diagnosis is based on clinical findings, ocular investigations including fundus autofluorescence, optical coherence tomography, electroretinogram and mutations in NR2E3.
Differential diagnosis
GFS should be distinguished from X-linked retinoschisis, retinitis pigmentosa and autosomal dominant hyaloideoretinal degeneration (Wagner disease) (see these terms).
Genetic counseling
GFS is inherited as an autosomal recessive trait.
Prognosis
GFS has a progressive course. In most cases, visual loss occurs in the first two decades of life. Some improvement of visual acuity has been reported after treatments with cyclosporin A and bromocriptine.

                            Last update: 
                            July 2009


                            - Expert reviewer(s): 
                            Pr Christian HAMEL
Gollop-Wolfgang complex (ORPHA:1986)
A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly.
Epidemiology
Approximately 200 cases have been reported worldwide.
Clinical description
The malformation presents with congenital aplasia/hypoplasia of the tibia, bifurcation of the distal femur, more commonly unilateral, accompanied by pre-axial oligodactyly or monodactyly of the feet. There is oligodactyly and ectrodactyly, often associated with an abnormality of the ulna. The pattern is frequently asymmetric. Occasionally other abnormalities can be present, namely congenital heart defects, cleft lip and palate and tracheo-oesophageal fistula.
Etiology
The etiology remains unknown. In two Japanese patients, a duplication and a triplication of a 210 Kb chromosomal segment in 17p13.3, including BHLHA9, has been detected, and considered a susceptibility factor for the limb malformation.
Diagnostic methods
Diagnosis is based on clinical and radiological findings.
Differential diagnosis
Differential diagnoses includes hypoplastic tibiae-postaxial-polydactyly syndrome and split hand foot malformation syndromes.
Antenatal diagnosis
Prenatal diagnosis can be performed by ultrasound scans in the second trimester of pregnancy.
Genetic counseling
Whilst the pattern of inheritance is currently unknown, autosomal dominant and autosomal recessive inheritance models have been suggested.
Management and treatment
Patients should be offered orthopedic and reconstructive surgery (involving prosthetics) and regular monitoring.
Prognosis
Life expectancy is not reduced but, in the absence of treatment, the functional prognosis is poor.

                            Last update: 
                            October 2019


                            - Expert reviewer(s): 
                            Dr Francesca FORZANO
Gonadoblastoma (ORPHA:206484)
Gonadoblastoma is a rare benign neoplasm of mixed sex cord and germ cells, arising mostly in the dysgenic gonads of young women with a chromosome Y anomaly, presenting with abdominal enlargement, variable feminization or virilization or, in some cases, being asymptomatic. It is often associated with dysgerminoma.
Gonococcal conjunctivitis (ORPHA:1482)
A rare disorder of the anterior segment of the eye caused by Neisseria gonorrhoeae, characterized by a severe mucopurulent conjunctivitis associated with lid edema, often also with localized lymphadenopathy. It may be complicated by uveitis or keratitis which can eventually lead to corneal perforation. The disease most often occurs in teenagers and young adults with a male predominance, while infections are much less common in newborns, where they are typically bilateral.
Good syndrome (ORPHA:169105)
Good syndrome, also known as thymoma-immunodeficiency, is a very rare acquired immunodeficiency syndrome characterized by the association of thymoma and combined B-cell and T-cell immunodeficiency of adult onset with increased susceptibility to infections.
Gordon syndrome (ORPHA:376)
Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.
Gorlin-Chaudhry-Moss syndrome (ORPHA:2095)
Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies.
Epidemiology
To date, 7 cases of GCM have been described in the world literature and all patients are female with no known parental consanguinity.
Clinical description
GCM is a congenital disorder in which patients present with a stocky body build, normal intelligence, coronal craniosynostosis, facial dysmorphism (brachy/turricephaly, low anterior and posterior hairline, coarse hair, synophrys, depressed supraorbital ridges, short and downslanted or upslanted palpebral fissures, ectropion of lower eyelid, underdeveloped ala nasi, prominent columella, midface hypoplasia, and underdeveloped small ears with increased posterior angulation), conductive hearing loss, ocular (coloboma of the eyelid (see this term), hyperopia, microphthalmia) and oro-dental (microdontia, irregularly shaped widely spaced teeth, oligodontia (see this term), narrow, and high arched narrow palate with medial cleft) anomalies and generalized hypertrichosis. Anomalies of the extremities (hypoplastic distal phalanges, small/aplastic nails, cutaneous syndactyly, absent flexion crease of the thumbs, single transverse palmar creases), umbilical hernia, and hypoplasia of labia majora are also observed. Other additional features that may be observed include congenital laryngomalacia and heart disease (patent arterial duct) (see these terms). Progeroid syndrome, Petty type and Saethre-Chotzen syndrome (see these terms) have overlapping features with GCM syndrome and should be considered in the differential diagnosis.
Etiology
The etiology is still unknown and, to date, no causative gene has been implicated in the physiopathology of GCM.
Genetic counseling
GCM is considered to be inherited in an autosomal recessive manner. However, the lack of consanguinity combined with the fact that all affected patients are female could suggest a de novo X-linked dominant disorder with male lethality.

                            Last update: 
                            November 2014


                            - Expert reviewer(s): 
                            Dr Rasim ROSTI
Graft versus host disease (ORPHA:39812)
A rare disease that occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen.
Epidemiology
About 35%-50% of hematopoietic stem cell transplant (HSCT) recipients will develop acute Graft versus host disease (GVHD). Given the number of transplants performed, it is estimated that about 5500 patients/year will develop acute GVHD.
Clinical description
Three organs are involved: the skin (rash/dermatitis), liver (hepatitis/jaundice), and gastrointestinal tract (abdominal pain/diarrhea). Either one or more of these organs may be affected.
Etiology
The exact risk is dependent on the stem cell source, age of the patient, conditioning, and GVHD prophylaxis used.
Diagnostic methods
GVHD is a clinical diagnosis that may be supported with appropriate biopsies. The reason to pursue a tissue biopsy is to help differentiate from other diagnoses which may mimic GVHD, such as a viral infection (hepatitis, colitis) or drug reaction (causing skin rash). Acute GVHD is staged and graded (grade 0-IV) by the number and extent of organ involvement.
Management and treatment
Generally the patient is treated by optimizing immunosuppression and adding methylprednisolone to the treatment regimen. About 50% of patients will have a solid response to methylprednisolone. If patients progress after 3 days or show no improvement after 7 days, they should receive a salvage (second-line) immunosuppressive therapy for which there is currently no standard-of-care. Well-organized clinical trials are imperative for better defining second-line therapies for this disease. Additional management issues are attention to wound infections in skin GVHD and fluid/nutrition management in gastrointestinal GVHD.
Prognosis
About 50% of patients with acute GVHD will eventually have manifestations of chronic GVHD. Patients with grade III/IV acute GVHD tend to have a poor outcome.

                            Last update: 
                            September 2007


                            - Expert reviewer(s): 
                            Dr David JACOBSOHN  - Dr Georgia VOGELSANG
Graham Little-Piccardi-Lassueur syndrome (ORPHA:505)
A variant of lichen planopilaris characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin.
Epidemiology
It is a very rare disease but the exact prevalence is not known. It mainly affects women during adulthood (30-60 years of age).
Clinical description
Scarring alopecia presents as small confluent patches that are atrophic and cicatricial in the center but erythematous and squamous around the edges. Follicular keratosis presents as pruritic, red-brown, follicular spiny papules on the trunk and extremities. Generally, the three clinical features appear simultaneously but in some cases, scalp alopecia precedes the follicular keratosis.
Etiology
Etiology is unknown.

                            Last update: 
                            May 2011


                            - Expert reviewer(s): 
                            Dr Stephanie ARNOLD  - Dr Susan COOPER
Grange syndrome (ORPHA:79094)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by early onset of hypertension and multifocal stenotic lesions of various arteries (including cerebral, renal, abdominal, and coronary). Variable additional features include learning difficulties, mild facial dysmorphism, anomalies of the fingers and toes, bone fragility, and congenital heart defects.
Grant syndrome (ORPHA:2097)
Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986.
Granular corneal dystrophy type I (ORPHA:98962)
Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy (see this term) characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe.
Epidemiology
Prevalence of this form of corneal dystrophy is not known. GCDI appears to be more prevalent in Europe than in other regions.
Clinical description
Lesions appear within the first decade of life and may be evident by 3 years of age. Early symptoms include glare and photophobia that usually start before the end of the first decade of life. Visual acuity decreases as opaciﬁcation progresses with age. Recurrent erosions are seen frequently. Homozygotes have more severe manifestations.
Etiology
GCDI is caused by a p. Arg555Trp mutation in the multifunctional TGFBI gene (5q31).
Diagnostic methods
Lesions resemble white, discrete, irregularly-shaped, sharply-demarcated spots in the stroma.
Differential diagnosis
The appearance of the granular deposits in GCDI differs from those in GCDII and unlike GCDII, amyloid deposits do not occur. The features of GCD may be very similar to the corneal features of monoclonal gammopathies (see these terms).
Genetic counseling
Both forms of GCD usually follow an autosomal dominant pattern of inheritance, but sporadic de novo mutations have been reported.
Management and treatment
When indicated, a penetrating keratoplasty is the ideal form of therapy.

                            Last update: 
                            May 2012


                            - Expert reviewer(s): 
                            Dr Gordon KLINTWORTH
Granular corneal dystrophy type II (ORPHA:98963)
Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy (see this term) characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment.
Epidemiology
Prevalence of this form of corneal dystrophy is not known. GCDII appears to be more prevalent in Japan, Korea and the USA.
Clinical description
Lesions appear within the first decade of life and may be evident by 3 years of age. Onset is generally earlier in homozygous patients. Pain may accompany mild corneal erosions. Visual acuity usually remains good until late in the course of the condition. The course is slowly progressive but homozygotes may demonstrate more rapid progression.
Etiology
GCDII is caused by a p. Arg124His mutation in the TGFBI gene (5q31).
Diagnostic methods
Opacities are initially small superficial whitish dots. Subsequently, ring or stellate-shaped stromal opacities develop. Final-stage opacities are more superficial and translucent, and may coalesce in the anterior stroma.
Differential diagnosis
Deposits are less numerous than in type I granular corneal dystrophy, and are sometimes lattice-like linear deposits and may superficially resemble lattice corneal dystrophy (see these terms). The features of GCD may be very similar to the corneal features of monoclonal gammopathies (see these terms).
Genetic counseling
Both forms of GCD usually follow an autosomal dominant pattern of inheritance, but sporadic de novo mutations have been reported.
Management and treatment
A penetrating keratoplasty is usually indicated, but superficial stromal opacities can sometimes be ablated without the removal of the entire cornea.

                            Last update: 
                            May 2012


                            - Expert reviewer(s): 
                            Dr Gordon KLINTWORTH
Granulomatous mastitis (ORPHA:64722)
A rare gynecologic or obstetric disease characterized by a painful, palpable breast mass with relative sparing of the subareolar regions, often associated with inflammation of the overlying skin and accompanied by axillary lymphadenopathy. It usually occurs in young parous women with a history of breast-feeding. The diagnosis of idiopathic granulomatous mastitis requires that other granulomatous lesions in the breast be excluded.