TaoMedAI/RareMedData huggingface dataset:
Acute zonal occult outer retinopathy (ORPHA:284454)
A rare acquired retinal disorder characterised by sequential focal degeneration of photoreceptors, retinal pigment epithelium and choroid, with the majority of patients experiencing sudden onset photopsia and acute scotomas. Although patients typically retain decent visual acuity, blind spot enlargement and retinal pigment epithelial disturbances tend to develop over time. Individuals also often complain of distortion of central vision, photophobia and difficulty with night vision, with more advanced cases reporting loss of peripheral vision.
Acyl-CoA dehydrogenase 9 deficiency (ORPHA:99901)
A rare disorder characterized by neurological dysfunction, hepatic failure and cardiomyopathy due to a deficiency of complex I of the respiratory chain.
Epidemiology
The prevalence is unknown.
Clinical description
Patients present predominantly with neurological, hepatic and /or cardiomyopathic disease with isolated NADH-CoQ reductase deficiency (see this term). Manifestations include failure to thrive, hypertrophic cardiomyopathy, exercise intolerance, liver disease and mild to severe neurological dysfunction.
Etiology
ACAD9 deficiency is caused by a mutation in the  ACAD9 gene (3q21.3) that encodes the protein ACAD9. This protein has only relatively recently been described but is quite widely expressed in tissues and has activity as an acyl-CoA dehydrogenase with overlapping substrate specificity with very long-chain acyl-CoA dehydrogenase (VLCAD). It also acts an assembly factor for complex I of the respiratory chain and therefore has a vital role in the production of a functioning mitochondrial respiratory chain.
Genetic counseling
The mode of inheritance is autosomal recessive and genetic counseling is possible.

                            Last update: 
                            February 2014


                            - Expert reviewer(s): 
                            Dr Simon OLPIN
ACys amyloidosis (ORPHA:100008)
A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 20-30 years, major systemic amyloidosis and recurrent lobar intracerebral hemorrhages. Unlike other forms of hereditary cerebral hemorrhage with amyloidosis, this subtype is due to a mutation in the CST3 gene (20p11.2), encoding the precursor protein cystatin C.
ADan amyloidosis (ORPHA:97346)
A rare, neurodegenerative disease characterized by progressive cataracts, hearing loss, cerebellar ataxia, paranoid psychosis and dementia. Neuropathological features are diffuse atrophy of all parts of the brain, chronic diffuse encephalopathy and the presence of extremely thin and almost completely demyelinated cranial nerves.
Adducted thumbs-arthrogryposis syndrome, Christian type (ORPHA:2952)
A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism ('myopathic' stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life; see this term) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983.
Adenocarcinoma of the anal canal (ORPHA:424016)
A very rare tumor of the intestine, originating from the epithelium of the anal canal (including the mucosal surface, anal glands, and lining of fistulous tracts), macroscopically appearing as a nodular, often ulcerated, invasive mass located in the anal canal. Patients often present with rectal bleeding, as well as difficulty and pain during defecation. Inguinal lymphadenopathy, if present, usually indicates metastatic spread.
Adenocarcinoma of the gallbladder and extrahepatic biliary tract (ORPHA:424991)
A rare epithelial carcinoma, arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland, characterized by nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (e.g. primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor.
Adenocarcinoma of the liver and intrahepatic biliary tract (ORPHA:424943)
A rare hepatic and biliary tract tumor characterized by a growth pattern ressembling that found in hepatocellular carcinomas and cholangiocarcinomas but presenting atypical histological and immunohistochemical features (such as trabecular, organoid, microcystic and/or blastemal-like architecture and inhibin A, cytokeratin 7 and/or cytokeratin 19 positivity) that do not allow a formal diagnosis of the more common aforementioned liver cancers. Patients may present abdominal distension and pain, a palpable abdominal mass and elevated liver enzymes.
Adenocarcinoma of the penis (ORPHA:398053)
An extremely rare penile epithelial neoplasm, histologically composed of nests of epithelilal cells floating in lakes of extracellular, PAS-positive mucin, clinically characterized by a nonhealing ulcer or soft mass in the preputium or glans area, with itching and burning often preceding appearance of the lesion. Lymphadenopathy may indicate dissemination. Mucinous metaplasia of the penis may be a risk factor.
Adenocarcinoma of the small intestine (ORPHA:104075)
Small bowel adenocarcinoma (SBA) is a rare small intestinal malignancy, most commonly located in the duodenum (55% of cases) but also rarely in the jejunum and ileum, which is usually discovered at an advanced stage in the 6th to 7th decade of life due to non-specific symptoms at presentation such as nausea, abdominal pain and weight loss. In some cases it is asymptomatic, and therefore usually has a poor prognosis.
Adenohypophysitis (ORPHA:95512)
A rare, acquired pituitary hormone deficiency, a type of primary hypophysitis characterized by an inflammation of anterior pituitary. Clinical presentation is variable and includes headaches, visual disturbances, symptoms of adrenal insufficiency, hyperprolactinemia, hypothyroidism and hypogonadism. It most commonly affects young women during pregnancy or postpartum period.
Adenoid basal carcinoma of the cervix uteri (ORPHA:213828)
A rare, slow-growing uterine cancer characterized, histologically, by small, well differentiated nests of basaloid cells resembling basal cell carcinoma of the skin, commonly associated with squamous cell carcinoma or squamous intraepithelial lesions. Patients are usually asymptomatic or present with dysfunctional vaginal bleeding, often with no observable lesion on the cervix. Infection with high-risk HPV-types (16 and 33) has been reported in some cases.
Adenoid cystic carcinoma of the cervix uteri (ORPHA:213823)
A rare, highly aggressive uterine cancer, macroscopically appearing as an irregular, slow-growing, non-friable, polypoid mass on the uterine cervix and histologically showing a pseudoglandular or cribriform growth pattern. It presents with vaginal bleeding and discharge and abdominal or pelvic pain. The tumor is highly infiltrative, often associated with vascular, lymphatic and perineural invasion, with subsequent haematogenous spread and early recurrence.
Adenoma of pancreas (ORPHA:93292)
A rare, benign tumor of the pancreas characterized by variable number and size of the cysts lined with glycogen rich epithelial cells. Clinical manifestation may include epigastric or abdominal pain, weight loss, diabetes, jaundice and palpable abdominal mass. Some patients have no symptoms and the tumor is discovered incidentally.
Adenosarcoma of the cervix uteri (ORPHA:213792)
A rare subtype of malignant mixed epithelial and mesenchymal tumor composed of benign or mildly atypical glandular elements and a surrounding low-grade malignant stroma, often containing heterologous elements, such as areas of sex-cord-like or smooth muscle differentiation. It usually presents with vaginal bleeding or discharge, lower abdominal pain and/or a cervical mass or polyp. The tumor may arise from pre-existing endometriosis and patients may have a history of recurrent cervical polyps.
Adenosarcoma of the corpus uteri (ORPHA:213600)
A rare subtype of mixed epithelial-mesenchymal tumor, often presenting as a large, exophytic polypoid lesion, which may extend through the cervix, composed of benign or atypical epithelium and low-grade malignant stroma. It usually presents with dysfunctional bleeding or vaginal discharge and less often abdominal pain. Association with long-term unopposed estrogen therapy, tamoxifen therapy and a history of pelvic radiation has been reported.
Adenosine deaminase 2 deficiency (ORPHA:404553)
Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.
Adenosine monophosphate deaminase deficiency (ORPHA:45)
A rare metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of adenosine monophosphate (AMP) deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue.
Epidemiology
About 1-2% of the Caucasian population carries the genetic defect causing myoadenylate deaminase deficiency, but only a minority of carriers develop symptoms. The prevalence is unknown but several hundred patients with the disorder have been reported in case reports and patient series. Men and women are equally affected.
Clinical description
The vast majority of patients suffer from post-exercise symptoms: rapid fatigue, cramps or myalgias. Approximately equal proportions of the patients first develop symptoms during childhood, adolescence, or as young or older adults. After progression of the symptoms over the first few years, the clinical course usually stabilises. There is no evidence of muscular dystrophy or muscular wasting. The disorder exclusively affects skeletal muscle. Smooth muscle or other organs are not affected as the disorder is associated with a specific lack of skeletal muscle adenylate deaminase activity.
Etiology
The vast majority of patients with this disease are homozygous for the nonsense C34-T mutation in the AMPD1 (adenosine monophosphate deaminase 1) gene. This mutation creates an early stop codon thus preventing the synthesis of an enzymatically active protein. The deficiency disrupts the purine nucleotide cycle, and thus muscle energy production. Surprisingly, however, asymptomatic AMP deaminase-deficient subjects have been reported, indicating that additional factors are likely to be involved in the development of myopathic symptoms.
Diagnostic methods
The diagnosis is based on histochemical staining or biochemical analysis of a muscle biopsy showing a lack of muscle adenylate deaminase activity, or on molecular identification of the disease-causing mutation.
Genetic counseling
Transmission is autosomal recessive.
Management and treatment
Unfortunately, there is no medical cure for this disorder. Symptoms improve with administration of D-ribose. However, the effects of this sugar are only short-tem and it has no beneficial effect during subsequent days.

                            Last update: 
                            February 2007
Adenovirus infection in immunocompromised patients (ORPHA:91127)
A rare viral disease characterized by invasive and/or disseminated adenovirus infection in immunocompromised patients, either acquired de novo or arising from reactivation of persistent latent infection. The clinical picture comprises a wide range of manifestations including pneumonia, colitis, hepatitis, hemorrhagic cystitis, tubulointerstitial nephritis, encephalitis, and disseminated disease, among others. Severity varies with age and immune status, and life-threatening courses may occur.
Adenylosuccinate synthetase-like 1-related distal myopathy (ORPHA:482601)
A rare autosomal recessive distal myopathy characterized by slowly progressive diffuse muscle weakness in childhood, followed by predominantly distal muscle weakness in adolescence, and quadriceps muscle weakness in the fourth decade. Facial muscle weakness is commonly reported. Muscle biopsy shows fiber size variation, increased internal nuclei, fiber splitting, rimmed vacuoles, and focal endomysial fibrosis.
Adrenocortical carcinoma with pure aldosterone hypersecretion (ORPHA:231625)
A very rare surgically-correctable form of primary aldosteronism (PA) due to an aldosterone-secreting adrenal malignancy.
Epidemiology
The prevalence of adrenocortical carcinoma with pure aldosterone hypersecretion is unknown.
Clinical description
Pure APAC is characterized by renin suppression, unilateral aldosterone hypersecretion and moderate to severe hypertension that may be associated with hypokalemia, and the presence of a large adrenal tumor. Hypokalemia may be symptomatic and present as muscular weakness, cramps, paresthesia or palpitations with or without atrial fibrillation.
Etiology
Etiology is unknown.
Diagnostic methods
The diagnosis of carcinoma is suggested by CT scan, showing a tumor exceeding 4 cm in diameter, and possible metastases and/or invasion of the inferior vena cava.
Management and treatment
Open laparotomy enables resection of the tumor and possible metastases or adjacent organs. Unless unresectable tumor or metastases are present, adrenalectomy abolishes aldosterone hypersecretion and hypokalemia in most patients. Adjuvant mitotane therapy may be indicated based on tumor scoring using the Weiss score or ENS@T score.
Prognosis
The prognosis of pure APAC is the same as for others adrenocortical carcinomas: 5-year survival is 15% in patients with metastatic adrenocortical carcinomas.

                            Last update: 
                            July 2011


                            - Expert reviewer(s): 
                            Pr Laurence AMAR  - Pr Pierre-François PLOUIN  - Dr Olivier STEICHEN
Adrenocortical carcinoma (ORPHA:1501)
A rare cancer that arises from the adrenal cortex.
Epidemiology
It represents 0.2% of childhood malignancies and has an international incidence of 1 in 2,000,000. It is more frequent in girls than in boys (ratio 1.5:1).
Clinical description
Adrenocortical carcinoma (ACC) occurs in childhood with a peak incidence at 3.5 years of age. Most ACCs in children and adolescents are hormone-secreting and the clinical presentation reflects the pattern of adrenocortical hormones secreted by the tumor. Signs and symptoms of virilisation are present in over 90% of cases, hypertension may also be present. Hirsutism, acne and deepening of the voice may be apparent in both sexes. Girls may also present with cliteromegaly and facial hair, while boys present with phallomegaly and early virilisation. Cushing's syndrome (see this term) occurs in a third of cases with the most common signs being a moon-like facies, centripetal fat distribution and plethora. There is an increased incidence of ACC in patients with isolated hemihypertrophy, Wiedemann-Beckwith syndrome, congenital adrenal hyperplasia (CAH) and Li-Fraumeni syndrome (LFS) (see these terms).
Diagnostic methods
Diagnosis is based on the results of urine and blood tests, dexamethasone suppression tests, abdominal ultrasound, CT and MRI scans.
Differential diagnosis
Differential diagnosis should include phaeochromocytoma and neuroblastoma (see these terms).
Genetic counseling
At least 50 % of ACCs have an inherited basis and hence referral to a cancer genetics service is recommended.
Management and treatment
Complete, radical surgical resection is the treatment of choice and may be curative, especially for small tumors. In patients with incomplete resection or metastatic spread, treatment options include chemotherapy and/or mitotane, which obtained EU marketing authorisation in 2004 as an Orphan drug for symptomatic treatment of advanced (unresectable, metastatic or relapsed) ACC.
Prognosis
ACC has a poor prognosis (5-year actuarial survival is 36%) except in case of small tumours that are completely resected.

                            Last update: 
                            June 2007


                            - Expert reviewer(s): 
                            Pr Bernadette BRENNAN
Adrenomyeloneuropathy (ORPHA:139399)
A form of the peroxisomal disease X-linked adrenoleukodystrophy, characterized by progressive myelopathy and peripheral neuropathy, and often associated with peripheral adrenal insufficiency in males. Onset is typically in adulthood.
Adrenomyodystrophy (ORPHA:977)
An extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982.
Adult acute respiratory distress syndrome (ORPHA:70578)
A very severe form of acute pulmonary failure secondary to capillary permeability impairment. The symptoms include dyspnea, hypotension and multivisceral failure. The disease is characterized by bilateral pulmonary infiltrates and severe hypoxemia due to increased alveolar-capillary permeability. The severity depends on the degree of alveolar epithelial injury, with a mortality rate of 30-50%.
Adult familial nephronophthisis-spastic quadriparesia syndrome (ORPHA:2666)
A rare, genetic, renal disease characterized by the association of familial adult medullary cystic disease with spastic quadriparesis. There have been no further descriptions in the literature since 1990.
Adult hepatocellular carcinoma (ORPHA:210159)
A rare carcinoma of the liver characterized by one to several or many nodules occurring anywhere within the liver, composed of neoplastic epithelial cells with hepatocellular differentiation. The vast majority of tumors are associated with chronic liver disease (such as hepatitis B or C, or steatohepatitis) or exposure to a variety of exogenous agents. Patients may present with signs and symptoms related to the tumor, as well as to the underlying condition. Common manifestations include right upper quadrant abdominal pain, weight loss, hepatosplenomegaly, jaundice, and ascites. Symptomatic tumors generally have poor prognosis.
Adult hypophosphatasia (ORPHA:247676)
A moderate form of hypophosphatasia (HPP) characterized by adult onset osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures and dental anomalies.
Epidemiology
The prevalence of adult hypophosphatasia is not known. However the prevalence of moderate HPP (childhood, adult and odontoHPP) cases taken together has been estimated at 1/6300.
Clinical description
Adult HPP is clinically very heterogeneous. In its mildest form it is the least severe form of hypophosphatasia (HPP), characterized by non-specific symptoms in later age, such as osteoporosis, musculoskeletal pain, chondrocalcinosis. Most patients present features during middle age but some may have had a history of mild rickets or other musculoskeletal manifestations in childhood. Cardinal features include stress fractures and pseudo-fractures of the lower limbs, along with foot, thigh, and hip pain. The most common fracture types are metatarsal and tibial and femoral pseudofractures. Osteomalacia, chondrocalcinosis, and osteoarthropathy may develop with age. Some patients report history of early loss of primary dentition. Loss of permanent dentition is also common and some cases of enamel hypoplasia and tooth mobility are described. Patients with the adult form of HPP may have had some manifestations in early life between the prenatal period and childhood (prenatal benign HPP or childhood HPP). The presence of bone symptoms (osteomalacia, fractures) distinguish adult HPP from odontohypophosphatasia.
Etiology
Mutations in the ALPL gene (1p36.12) are known to cause hypophosphatasia.
Diagnostic methods
Diagnosis is based on clinical presentation, alkaline phosphatase assay and confirmed by genetic testing.
Differential diagnosis
The main differential diagnosis is osteogenesis imperfecta.
Genetic counseling
Inheritance may be autosomal recessive (rare) or autosomal dominant (the vast majority of cases).
Management and treatment
Management is typically supportive.
Prognosis
Overall prognosis is typically good, although affected individuals may experience some physical limitations depending on the extent and progression of the disease.

                            Last update: 
                            February 2020


                            - Expert reviewer(s): 
                            Dr Severine BACROT  - Dr Etienne MORNET
Adult idiopathic neutropenia (ORPHA:2688)
A rare acquired immunodeficiency disease characterized by adult-onset absolute neutrophil counts less than 1.5 x 10^9/L on at least 3 occasions in a 3 month period that cannot be attributable to drugs or a specific genetic, infectious, inflammatory, autoimmune or malignant cause. Recurrent aphtous stomatitis and a history of mild bacterial infections are typically associated. A benign outcome with a low rate of severe infections and no secondary malignancies is observed.
ADULT syndrome (ORPHA:978)
A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.
Adult T-cell leukemia/lymphoma (ORPHA:86875)
A rare, virus associated tumor due to human T-cell leukemia virus type 1 or human T-cell lymphotropic virus type 1 (HTLV-1) and is characterized by the presence of anti-HTLV-1 antibodies, and malignant, mature, medium-sized T cells with condensed chromatin and polylobated nuclei. The malignant cells exhibit a mature CD4+ T cells phenotype and express CD2, CD5, CD25, CD45RO, HLA-DR, and T-cell receptor αβ. Presentation is heterogeneous and is typically of aggressive leukemia or lymphoma, variable skin eruptions, and visceral organ involvement.