TaoMedAI/RareMedData huggingface dataset:
Gelatinous drop-like corneal dystrophy (ORPHA:98957)
Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment.
Epidemiology
Worldwide prevalence of this form of corneal dystrophy is not known. Cases have been reported in patients from India, Tunisia, Vietnam, Turkey, the USA and other countries, but most cases seem to be in Japan where prevalence is estimated to be 1/300,000.
Clinical description
Lesions generally develop in the first or second decade of life. The clinical features include severe photophobia, tearing, a corneal foreign body sensation and severe progressive loss of vision.
Etiology
Gelatinous drop-like corneal dystrophy is mostly caused by mutations in the TACSTD2 gene (1p32) encoding tumor-associated calcium signal transducer 2. More than 20 mutations have been reported but some patients have been found not to have a mutation in this gene, which suggests genetic heterogeneity.
Diagnostic methods
Fusiform deposits similar to those in lattice corneal dystrophy (LCD, see this term) in the deeper stroma may be found by light microscopy.
Genetic counseling
An autosomal recessive pattern of inheritance has been reported.
Management and treatment
An unsatisfactory response has been observed to both lamellar keratoplasty (LKP) and penetrating keratoplasty (PK), as well as to a superficial keratectomy, since amyloid recurs in the graft within about 5 years.

                            Last update: 
                            May 2012


                            - Expert reviewer(s): 
                            Dr Gordon KLINTWORTH
Geleophysic dysplasia (ORPHA:2623)
A rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy'').
Epidemiology
Fewer than 30 cases have been reported to date.
Clinical description
The characteristic facial appearance (''happy'' face) consists in a shortened nose, full cheeks, hypertelorism, long flat philtrum, and a thin upper lip. Additional clinical features include progressive cardiac valvular thickening often leading to an early death, contractions of the gastrocnemius muscle and Achilles tendon leading to tip toe walking, tracheal stenosis, bronchopulmonary insufficiency, and liver enlargement. Radiological manifestations include delayed bone age, cone-shaped epiphyses, shortened long tubular bones and ovoid vertebral bodies.
Etiology
Mutations have been found in the ADAMTSL2 and FBN1 genes which appear to induce microfibrillar network disorganization and enhanced TGF-beta signaling. FBN1 encodes fibrillin-1 and ADAMTSL2 (Disintegrin And Metalloproteinase with Thrombospondin repeats- like 2) encodes a glycoprotein of unknown function.
Genetic counseling
Transmission is autosomal recessive in the cases with ADAMTSL2 gene mutations and autosomal dominant in the cases with FBN1 mutations.

                            Last update: 
                            June 2012


                            - Expert reviewer(s): 
                            Pr Valérie CORMIER-DAIRE
Gemignani syndrome (ORPHA:2074)
Gemignani syndrome is a rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989.
Generalized basaloid follicular hamartoma syndrome (ORPHA:168632)
Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported.
Generalized epilepsy-paroxysmal dyskinesia syndrome (ORPHA:79137)
Generalized epilepsy-paroxysmal dyskinesia syndrome is characterised by the association of paroxysmal dyskinesia and generalised epilepsy (usually absence or generalised tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant.
Generalized eruptive histiocytosis (ORPHA:157991)
A rare non-Langerhans cell histiocytosis characterized by rapid onset of crops of asymptomatic small red to brown papules, typically distributed symmetrically over the face, trunk, and proximal extremities, occasionally with mucous membrane involvement. The lesions resolve spontaneously without scarring after a variable time span and do not recur in most cases. Histopathology reveals diffuse, uniform dermal infiltration with non-xanthomatous histiocytes staining positive for CD68 and Ki-M1p. Multinucleate giant cells may occasionally be found.
Generalized eruptive keratoacanthoma (ORPHA:411777)
Generalized eruptive keratoacanthoma (GEKA) is rare variant of keratoacanthoma (KA) that affects the skin and mucous membranes and which is characterized by a sudden generalized eruption of severely pruritic, hundreds to thousands of small follicular papules, often with a central keratotic plug.
Generalized essential telangiectasia (ORPHA:280774)
A rare skin disease characterized by widespread cutaneous telangiectases usually ﬁrst appearing on the lower limbs and slowly progressing upwards to involve the trunk and arms. The lesions can be diffuse, localized, macular, plaque-like, discrete, or conﬂuent. Recurrent bleeding from the skin and mucous membranes is not a common feature. Likewise, co-existing epidermal or dermal abnormalities, like atrophy, depigmentation, or purpura, are absent. The condition is non-hereditary, and to establish the diagnosis, other primary and secondary telangiectases must be excluded.
Generalized glucocorticoid resistance syndrome (ORPHA:786)
A rare, adrenogenital syndrome characterized by generalized, partial tissue insensitivity to glucocorticoids leading to variable phenotype, including asymptomatic individuals with only biochemical alterations or patients with ambiguous genitalia at birth in females, hypertension, acne, hirsutism, precocious puberty, male-pattern hair loss, anxiety and depression in both sexes, menstrual irregularities in women, and oligospermia in men.
Generalized peeling skin syndrome (ORPHA:263543)
A form of peeling skin syndrome characterized by a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial non-inflammatory peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy.
Generalized pseudohypoaldosteronism type 1 (ORPHA:171876)
A severe form of pseudohypoaldosteronism type 1 characterized by salt wasting in multiple organs including the kidney, colon, and sweat and salivary glands. Presentation is in the first few weeks of life with severe dehydration, vomiting and failure to thrive in association with hyponatremia, hyperkalemia and metabolic acidosis as well as elevated aldosterone and renin levels. No remission is reported and patients suffer from recurrent life-threatening episodes of salt loss.
Generalized pustular psoriasis (ORPHA:247353)
Generalized pustular psoriasis is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis.
Genetic hyperferritinemia without iron overload (ORPHA:254704)
Genetic hyperferritinemia without iron overload is a rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and characterized by an apparently asymptomatic clinical phenotype.
Genetic non-syndromic obesity (ORPHA:98267)
A rare genetic disease characterized by early-onset severe obesity due to mutations in single genes acting on the development and function of the hypothalamus or the leptin-melanocortin pathway, leading to disruption of energy homeostasis and endocrine dysfunction. Patients present with a body mass index over three standard deviations above normal at less than five years of age, accompanied by a variety of signs and symptoms according to the mutated gene, including hyperphagia, insulin resistance, reduced basal metabolic rate, or hypogonadism, among others.
Genetic recurrent myoglobinuria (ORPHA:99845)
Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers.
Epidemiology
The exact prevalence remains unknown.
Clinical description
In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection (febrile illness). Hypertonia, muscle stiffness and muscle pain, impaired kidney function and elevated levels of serum creatine kinase are common clinical features.
Etiology
Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria. Recently, mutations in the LPIN1 gene (chromosome 2p21) have been reported to have a causative role in three patients with recurrent episodes of myoglobinuria, originating from consanguineous families.
Genetic counseling
The disorder may occur sporadically, or be inherited in either a recessive or dominant manner.

                            Last update: 
                            March 2010
Genetic transient congenital hypothyroidism (ORPHA:226316)
Genetic transient congenital hypothyroidism is a rare, thyroid disease characterized by a gene mutation induced, temporary deficiency of thyroid hormones at birth, which later reverts to normal with or without replacement therapy in the first few months or years of life.
Genitopalatocardiac syndrome (ORPHA:2075)
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.
Genitopatellar syndrome (ORPHA:85201)
A rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.
Genochondromatosis type 1 (ORPHA:85197)
A rare disorder characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. The clinical course is benign.
Genochondromatosis type 2 (ORPHA:93398)
Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical, generalized metaphyseal enchondromas, particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign.
German syndrome (ORPHA:2077)
German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987.
Germinoma of the central nervous system (ORPHA:91352)
A rare primary germ cell tumor of central nervous system characterized by a space-occupying lesion usually arising in structures around the third ventricle, most commonly the region of the pineal gland and the suprasellar compartment. It is composed of uniform cells resembling primitive germ cells. Clinical manifestations depend on the tumor site and include hydrocephalus, visual disturbances, and endocrine abnormalities. Prognosis is favorable in pure germinomas due to high radiosensitivity.
Geroderma osteodysplastica (ORPHA:2078)
Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.
Epidemiology
Prevalence is unknown.
Clinical description
The severe osteoporosis and early spontaneous fractures, together with the absence of large, open fontanels are usually distinguishing features of GO.
Etiology
Although the etiology in some cases remains unknown, mutations in the GORAB gene (1q24.2) have been identified in some families. Mutations in the PYCR1 gene (17q25.3) have recently been identified in patients with the clinically overlapping phenotypes (wrinkly skin, osteopenia and progeroid features) of GO, autosomal recessive cutis laxa type 2 (ARCL2), wrinkly skin syndrome (WSS), and De Barsy syndrome (DBS; see these terms).
Genetic counseling
GO is transmitted in an autosomal recessive manner.
Management and treatment
Bisphosphonates can be successfully used in cases with severe osteopenia.
Prognosis
Patients with GO have a normal life expectancy and, in most cases, normal intelligence. There is a spontaneous improvement in the disease course. Bone fractures become less frequent with age.

                            Last update: 
                            July 2010


                            - Expert reviewer(s): 
                             M GUILLARD  - Pr D.J. [Dirk] LEFEBER  - Pr Eva MORAVA-KOZICZ  - Pr R.A. [Ron] WEVERS
Gerstmann syndrome (ORPHA:221117)
Gerstmann syndrome is a very rare neurological disorder characterized by the specific association of acalculia, finger agnosia, left-right disorientation, and agraphia, which is supposed to be secondary to a focal subcortical white matter damage in the parietal lobe.
Gerstmann-Straussler-Scheinker syndrome (ORPHA:356)
A rare inherited human prion disease characterized by adult onset of slowly progressive cerebellar ataxia, with dementia developing relatively late in the disease course (classic ataxic phenotype). Patients may present with gait disturbances and frequent falls, dysarthria, dysphagia, nystagmus, dysmetry, and eventually pancerebellar syndrome, myoclonus, spasticity, severe dementia, and mutism. The disease is invariably fatal after five years on average. Neuropathological hallmark is the presence of numerous multicentric prion protein plaques in the cerebral and cerebellar cortex.
Gestational choriocarcinoma (ORPHA:99926)
A form of gestational trophoblastic neoplasia characterized histologically by trophoblast proliferation, absence of chorionic villi (except in cases of intraplacental choriocarcinoma) and tissue necrosis with bleeding. The tumor occurs secondary to pregnancy (ectopic or normal), miscarriage, voluntary termination of pregnancy (VTP) or a hydatidiform mole. Indicative signs are persistent unexplained metrorrhagia or secondary increase, stagnation, or non-normalization at 6 months of total serum chorionic gonadotropin (hCG) levels after removal of a hydatidiform mole; persistent unexplained metrorrhagia following spontaneous abortion or VTP; occasionally unexplained metrorrhagia in the weeks or months following normal childbirth or an ectopic pregnancy. Occasionally, metastases (lung, liver, brain, kidneys, vagina) are indicative signs in women of childbearing age.
Ghosal hematodiaphyseal dysplasia (ORPHA:1802)
Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.
Epidemiology
The exact prevalence is unknown. GHDD has been reported in unrelated families of Indian and Middle East origin.
Etiology
GHDD is associated with mutations in the TBXAS1 gene (which encodes thromboxane synthase).
Genetic counseling
GHDD is transmitted as an autosomal recessive trait.

                            Last update: 
                            March 2008
Giant adenofibroma of the breast (ORPHA:180267)
Giant adenofibroma of the breast is a rare, benign, fibroepithelial tumor which usually manifests as a unilateral, painless, firm, mobile, slow-growing mass in the breast that measures more than 5 cm. It can be associated with significant asymmetry and/or deformity of the breast and hormonal changes (e.g. puberty, pregnancy, oral contraceptives) can lead to its marked enlargement.
Giant cell tumor of bone (ORPHA:363976)
A rare bone sarcoma characterized by a usually benign space-occupying lesion, which is nevertheless locally aggressive and massively damaging to surrounding bone tissue. The tumor is composed of giant multinucleated cells (osteoclast-like cells), mononuclear macrophages, and mononuclear stromal cells which secrete pro-myeloid and pro-osteoclastic factors. Metastasis and malignant transformation are rare, but the recurrence rate is high.
Gingival fibromatosis-facial dysmorphism syndrome (ORPHA:2025)
A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism.
Epidemiology
It has been described in two sibs.
Clinical description
Craniofacial dysmorphism consists of relative macrocephaly, bushy eyebrows with synophris, hypertelorism, downslanting palpebral fissures, flattened nasal bridge and high arched palate. The patients have normal intellect.
Genetic counseling
The condition seems to be hereditary, transmitted as an autosomal recessive trait.

                            Last update: 
                            October 2010
Gingival fibromatosis-hypertrichosis syndrome (ORPHA:2026)
A rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.
Gingival fibromatosis-progressive deafness syndrome (ORPHA:2027)
A rare syndrome characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait.
GJC2-related late-onset primary lymphedema (ORPHA:568051)
A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association.
Glanzmann thrombasthenia (ORPHA:849)
Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia.
Glassy cell carcinoma of the cervix uteri (ORPHA:213833)
Glassy cell carcinoma of the cervix uteri is a rare cancer of the uterine cervix, composed of nests of large neoplastic cells with 'ground glass' cytoplasm, surrounded by a stroma with prominent eosinophilic infiltrates. It is a poorly differentiated, aggressive variant of adenosquamous carcinoma that usually affects young women and presents with dysfunctional vaginal bleeding and lower abdominal pain. Distant metastases to the lungs, liver spleen or bones are often present at the time of diagnosis. It is often associated with high-risk HPV-infection (types 18, 16 and 32).
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea (ORPHA:238763)
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate.
Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome (ORPHA:2084)
A rare genetic, syndromic eye disorder characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. This syndrome shows similarities to Moore-Federman syndrome.
Glaucoma-sleep apnea syndrome (ORPHA:2085)
Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children).