TaoMedAI/RareMedData huggingface dataset:
Anaplastic/large cell medulloblastoma (ORPHA:251855)
A histological variant of medulloblastoma, an embryonic malignancy, associated with extremely low survival rates and a high risk of metastatic disease and manifesting with symptoms of increased intracranial pressure such as vomiting, headache, listlessness, papilledema and diplopia.
Anauxetic dysplasia (ORPHA:93347)
A rare spondyloepimetaphyseal dysplasia characterized by severe short-limb short stature beginning prenatally, joint hypermobility, dental abnormalities, dysmorphic facial features (including hypertelorism, midface hypoplasia, macroglossia, and prognathism), and other skeletal anomalies (such as atlantoaxial subluxation causing compression of the spinal cord, kyphoscoliosis, hip dislocation, or rocker-bottom feet). Mild intellectual disability may also be present.
Andersen-Tawil syndrome (ORPHA:37553)
A rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.
Androgen insensitivity syndrome (ORPHA:754)
A rare difference of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS).
ANE syndrome (ORPHA:157954)
A rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.
Aneurysm of sinus of Valsalva (ORPHA:1054)
A rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated.
Aneurysm-osteoarthritis syndrome (ORPHA:284984)
A rare, genetic, systemic disease characterized by the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (incl. long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and, anomalies of the palate and uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additional cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation.
Aneurysmal bone cyst (ORPHA:480553)
A rare bone tumor characterized by a benign, cystic lesion consisting of blood-filled cavities divided by fibrous septa containing fibroblasts, multinucleated osteoclast-type giant cells, and reactive woven bone. The tumor may arise de novo or secondarily, complicating other benign or malignant bone tumors. It most commonly arises during the first two decades of life and often affects the epiphyses of long bones and posterior elements of vertebral bodies. Patients typically present with pain and swelling, or neurological symptoms due to compression of nerve roots or the spinal cord by vertebral tumors.
Angiocentric glioma (ORPHA:251671)
An extremely rare slow-growing glial neoplasm of the central nervous system, usually arising in a superficial location in the cerebrum, affecting all ages and both sexes, and characterized by intractable seizures and headaches, with most cases being cured by surgical incision alone and therefore having a good prognosis.
Angioimmunoblastic T-cell lymphoma (ORPHA:86886)
A rare T-cell non-Hodgkin lymphoma characterized by infiltration of lymph nodes by neoplastic cells of T follicular helper cell origin with a polymorphous inflammatory background including markedly increased follicular dendritic cells and EBV-positive B-cells, as well as prominent proliferation of high endothelial venules. The spleen, liver, skin, and bone marrow are also frequently involved. Patients typically present with generalized lymphadenopathy, hepatosplenomegaly, systemic symptoms, and polyclonal hypergammaglobulinemia. Pruritic skin rash, arthritis, pleural effusion, and ascites may also be observed. The condition is aggressive with generally poor prognosis.
Angioma serpiginosum (ORPHA:95429)
A benign congenital skin disease characterised by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko.
Epidemiology
The disease occurs almost exclusively in females.
Etiology
A mutation in the Xp11.3-Xq12 region has been identified in one of the reported families. However, in this family the AS was associated with oesophageal papillomatosis leading to the suggestion that this case of familial AS represents a mild form of focal dermal hypoplasia (see this term).
Genetic counseling
The majority of cases are sporadic. Only a few familial cases have been reported in the literature so far and transmission may be autosomal dominant or X-linked.

                            Last update: 
                            October 2008
Angiomatoid fibrous histiocytoma (ORPHA:569164)
A rare soft tissue tumor characterized by a slow-growing, usually painless, subcutaneous nodule, predominantly located in the extremities, less frequently the trunk or head and neck region. Histopathologically, the lesion is well-circumscribed, lobulated, and composed of epitheloid, ovoid, or spindle cells arranged in a nodular and often syncytial pattern, with pseudoangiomatoid spaces and a peripheral fibrous pseudocapsule with a prominent lymphoplasmacytic cuff. The tumor is most common in the first two decades of life and usually follows an indolent course, although local recurrence may occur, while metastasis is rare.
Angioosteohypertrophic syndrome (ORPHA:2346)
A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb.
Angioosteohypotrophic syndrome (ORPHA:75508)
A rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported.
Angiosarcoma (ORPHA:263413)
A rare vascular tumor characterized by a malignant space-occupying lesion composed of cells variably recapitulating features of normal endothelium. It mostly develops as a cutaneous tumor and is much less frequently located in the deep soft tissue. Clinical presentation is an enlarging mass, sometimes with symptoms like coagulopathy, anemia, persistent hematoma, or bruisability. Some tumors are associated with pre-existing conditions, e. g. Klippel-Trenaunay syndrome, Maffucci syndrome, or following radiation, among others. Older age, retroperitoneal location, large size, and high mitotic activity are predictors for poor outcome.
Angiostrongyliasis (ORPHA:74)
A foodborne zoonotic disease, endemic to Southeast Asia and the Pacific Islands, caused by the rat lungworm Angiostrongylus cantonensis and that is acquired by the ingestion of the infective larvae on vegetables or in raw or undercooked snails, slugs, land crabs, freshwater shrimps, frogs and lizards. The main feature is eosinophilic meningitis, with clinical manifestations including fever, headache, malaise, fatigue, vomiting, rhinorrhea, blurred vision, diplopia, cough, stiff neck, enteritis, constipation and paraesthesia due to the movement of the worms from the intestines to the lungs, central nervous system and eyes. In severe cases without treatment, coma and death can occur.
Angora hair nevus (ORPHA:370039)
A rare nevus disorder characterized by the presence of epidermal nevi consisting of depigmented hypertrichosis manifesting with long, soft, white hair which grows from dilated follicles and follows Blaschko's lines, typically located on the scalp, neck, face, trunk and/or limbs. Association with hyperpigmented, hyperkeratotic linear epidermal nevi, macrocephaly, body asymmetry, sacral pit and koilonychia, as well as skeletal, ocular, and neurological abnormalities, has also been reported.
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome (ORPHA:69088)
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.
Epidemiology
It has been described in a few unrelated male patients born to mothers with mild incontinentia pigmenti.
Clinical description
The first two reported children died before three years of age from multiple infections with Gram-positive cocci, Gram-negative bacilli, mycobacteria, and fungi.
Etiology
The syndrome is classified as a X-linked osteopetrosis and is caused by mutations in the IKBKG (NEMO) gene (Xq28).

                            Last update: 
                            March 2009
Aniridia-absent patella syndrome (ORPHA:1069)
A rare syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.
Aniridia-cerebellar ataxia-intellectual disability syndrome (ORPHA:1065)
A rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.
Epidemiology
To date, less than 30 patients have been reported in the literature.
Clinical description
Aniridia is visible at birth as fixed dilated pupils and is associated with photobia. It can be accompanied with additional ocular findings such as foveal, patchy iris and/or optic nerve hypoplasia, retinal hypopigmentation, and/or pigmentary macular changes leading to reduced visual acuity. Cataract and corneal opacities are never observed. Non-progressive cerebellar ataxia is associated with delayed developmental milestones and hypotonia (visible from the first year of life), gait and balance disorders with incoordination, intention tremor, and scanning speech. Intellectual disability is variable. Mild facial dysmorphic features may be observed such as high forehead, hypertelorism, epicanthic folds, depressed nasal bridge with anteverted nostrils, and thin upper lip. The cases referred to as atypical Gillespie syndrome correspond to those showing a more complex phenotype, associating additional ocular findings and a mild dysmorphic face.
Etiology
The etiology is unknown. Some atypical cases have been linked to mutations in the PAX6 gene (11p13), encoding a transcriptional regulator expressed in ocular, cerebral, olfactory, and pancreatic tissues. One case has also been reported to be due to a de novo translocation of chromosome X and 11 t(X;11) (p22.32;p12), but with no involvement of the PAX6 gene.
Diagnostic methods
A presumptive diagnosis can be made in the first months of life: on slit lamp examination, the pupil border of the iris typically shows a scalloped, 'festooned' edge with iris strands extending onto the anterior lens surface at regular intervals. In many cases, neuroimaging studies (CT scan, MRI) show cerebellar hypoplasia or atrophy, especially of the vermis, with occasional white matter changes, and diffuse atrophy of the cerebral hemispheres, brainstem and frontal cortex.
Differential diagnosis
Differential diagnosis includes Marinesco-Sjögren syndrome (see this term) in which congenital cataract is present, as well as cerebellar ataxia, intellectual disability, and aniridia (see this term).
Genetic counseling
Sporadic and familial cases have been observed. Although some reported families are compatible with autosomal dominant inheritance, Gillespie syndrome is more likely to be an autosomal recessive condition.
Management and treatment
Management includes regular ophthalmologic evaluation with prescription of optical aids, physical, speech and occupational therapy for muscular re-education.
Prognosis
There are no reports on the natural history of the disease. Prognosis depends on the proper management and anticipation of ocular and mental symptoms and disabilities.

                            Last update: 
                            December 2014


                            - Expert reviewer(s): 
                            Pr Francesc PALAU
Aniridia-intellectual disability syndrome (ORPHA:1068)
An extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974.
Aniridia-ptosis-intellectual disability-familial obesity syndrome (ORPHA:1067)
An extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986.
Aniridia-renal agenesis-psychomotor retardation syndrome (ORPHA:1064)
An extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.
Anisakiasis (ORPHA:1070)
A fish-borne zoonosis caused by the ingestion of third stage larvae of nematodes belonging to the genus Anisakis, present in fish or cephalopods. Following its penetration in the human gastrointestinal tract, the parasite can cause gastrointestinal classified as acute (manifesting as abdominal pain, diarrhea, nausea and vomiting), chronic, or ectopic reactions or allergic manifestations (urticaria, angioedema, anaphylactic shock).
Epidemiology
To date, more than 20,000 cases of anisakiasis have been reported worldwide, over 90% from Japan (2,000-3,000 cases reported annually), and the rest from the five continents: Asia (Korea), Europe (the Netherlands, Germany, France, United Kingdom, Spain, Italy), America (the United States, Canada, and South American countries), and New Zealand.
Clinical description
Anisakiasis can take a number of forms, depending on the location and lesions caused by the larvae. In the luminal anisakiasis, larvae remain in the gastrointestinal tract without penetrating the tissues, causing an asymptomatic infection that may be discovered when the worms are expelled (1 day-2 weeks after ingestion) by coughing, vomiting or defecating. In invasive anisakiasis, larvae penetrate the gastrointestinal mucosa (more rarely the throat). The acute gastric form is characterized by nausea, vomiting, abdominal pain, and diarrhea, within 1-7 hours of the ingestion of contaminated food. If misdiagnosed, it can become chronic, with intermittent abdominal pain, nausea and vomiting lasting from weeks to several years. Symptoms of the acute intestinal form are analogous to those of the gastric one, and manifest 5-7 days after consumption. The chronic intestinal symptoms include weight loss, mild cramping, abdominal pain, and diarrhea, lasting for months or years. The migration of the larvae to the peritoneal cavity or to solid or hollow organs (larva migrans) may cause symptoms related to the involved tissue. In some cases anisakiasis is accompanied by an allergic response, such as urticaria, angioedema and anaphylactic shock. Asthma, conjunctivitis and dermatitis may also be observed as occupational exposure of fish processing employees to Anisakis allergens.
Etiology
Anisakiasis is caused by the ingestion of third stage larvae of Anisakid nematodes of the genus Anisakis, present in viscera or muscle of fish or cephalopods which are eaten raw, insufficiently cooked, smoked or marinated. Commonly reported species are Anisakis simplex  (sensu stricto) and Anisakis pegreffii, although the first has a higher rate of penetration in the fish muscle than the second one. Humans are accidental hosts in the life cycle, and the parasites almost never develop further within the human gastrointestinal tract. Some cases of human infection have been reported with worms from a number of species within the Anisakidae (Contracaecum, Pseudoterranova) or Raphidascarididae (Hysterothylacium, negligible) families.

                            Last update: 
                            June 2014


                            - Expert reviewer(s): 
                            Dr Paolo MERELLA
ANK3-related intellectual disability-sleep disturbance syndrome (ORPHA:356996)
A rare, genetic, syndromic intellectual disability disorder characterized by variable degrees of intellectual disability, behavioral problems (including attention deficit and hyperactivity disorder, autism spectrum disorder, and aggressiveness), an altered sleeping pattern, and delayed speech and language development associated with disruption of ankyrin-3 (ANK3 gene). Additional features observed may include muscular hypotonia and spasticity. Epilepsy, chronic hunger, and dysmorphic facial features have been reported.
Ankyloblepharon filiforme adnatum-cleft palate syndrome (ORPHA:1072)
A rare, syndromic, developmental defect of the eye malformation characterized by unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the grey line, associated with cleft lip and palate. Eye examination is otherwise normal.
Ankyloblepharon filiforme adnatum-imperforate anus syndrome (ORPHA:1074)
A rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993.
Ankylosing vertebral hyperostosis with tylosis (ORPHA:2206)
A rare dysostosis with predominant vertebral involvement characterized by paraspinal ligament ossification (most pronounced in the lower thoracic region), osteophytosis, marginal sacroiliac joint sclerosis, and punctate hyperkeratosis on the soles and palms. Patients may be asymptomatic or present mild to moderate back pain. There have been no further descriptions in the literature since 1969.
Ankylostomiasis (ORPHA:78)
A hookworm infection caused primarily by the species Ancylostoma duodenale  or Necator americanus, usually acquired through penetration of the skin, (often asymptomatic but that can also manifest with an allergic reaction at the site of skin penetration), followed by the migration of larva through the bloodstream to the lungs (causing asymptomatic pneumonitis, eosinophilia) and finally reaching and colonizing the small intestines where they cause blood extravasation leading to diarrhea, abdominal pain, and when untreated, melena, iron-deficiency anemia and protein malnutrition.
Annular atrophic lichen planus (ORPHA:254411)
A rare variant of cutaneous lichen planus characterized by both annular and atrophic LP features in the same lesion.
Epidemiology
Fewer than ten cases have been reported in the literature.
Clinical description
Small violaceous papules develop on the trunk and extremities and are characterized by an atrophic centre and a raised hyperpigmented border. Patients are generally middle-aged and have no past history of cutaneous lesions. Histopathologically, the peripheral border has the typical features of lichen planus, while the centre of the lesion shows loss of rete ridges. There is loss of elastic fibres within the papillary dermis, both centrally and peripherally.
Etiology
Etiology is unknown.

                            Last update: 
                            May 2015


                            - Expert reviewer(s): 
                            Dr Stephanie ARNOLD  - Dr Susan COOPER
Annular epidermolytic ichthyosis (ORPHA:281139)
A rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities.
Epidemiology
It has been reported in less than 10 families.
Clinical description
At birth, clinical features are similar to those of classical EI with erythroderma, blistering and superficial skin erosions at sites of minor trauma. In contrast to EI, an improvement of clinical symptoms occurs during early infancy after which patients develop outbursts of annular polycyclic erythematous scales on the trunk and extremities. Skin is normal between the outbursts. These skin abnormalities persist for several weeks to several months with only benign localized disease observed in adulthood. Patients also present palmoplantar hyperkeratosis.
Etiology
The disease is caused by mutations in the KRT1 (12q11-q13) and KRT10 (17q21-q23) genes, encoding keratins 1 and 10 respectively. These mutations impair keratin filament formation and weaken the structural stability of the keratinocyte cytoskeleton.
Genetic counseling
Transmission is autosomal dominant.

                            Last update: 
                            December 2012


                            - Expert reviewer(s): 
                            Dr Nathalie JONCA  - Pr Juliette MAZEREEUW-HAUTIER
Annular lichen planus (ORPHA:254424)
A rare variant of cutaneous lichen planus characterized by the development of annular lesions.
Epidemiology
The exact prevalence is unknown.
Clinical description
Annular lesions occur in 10% of all cases of lichen planus, they usually occur in association with more classic lesions. Annular LP is characterized by the development of annular violaceous or hyperpigmented plaques, with no central atrophy and slightly raised, non-scaly borders. Genital and oral lesions have been reported, along with lesions affecting the axillae, trunk, and extremities.
Etiology
Etiology is unknown.

                            Last update: 
                            May 2011


                            - Expert reviewer(s): 
                            Dr Stephanie ARNOLD  - Dr Susan COOPER