TaoMedAI/RareMedData huggingface dataset:
Absence of the pulmonary artery (ORPHA:980)
A rare vascular anomaly characterized by congenital absence of the right or left pulmonary artery, usually ending within 2 cm of its expected origin from the pulmonary trunk. Patients often also have other cardiovascular abnormalities and respective symptoms and are then typically diagnosed in infancy or childhood, while isolated cases generally present with a mild clinical course and may go undiagnosed until adulthood. Presenting clinical features in isolated cases include hemoptysis, exertional dyspnea, and recurrent respiratory infections. The condition is typically accompanied by marked changes of lung tissue and may, if unrecognized, result in massive hemoptysis and pulmonary hypertension.
Absence of uterine body (ORPHA:180142)
A rare, non-syndromic, uterovaginal malformation characterized by underdevelopment of the uterus, ranging from complete absence to the presence of bilateral rudimentary horns with or without a cavity. Patients usually present with primary amenorrhea, abdominal/pelvic pain and/or infertility.
Absent radius-anogenital anomalies syndrome (ORPHA:3016)
A rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993.
Absent thumb-short stature-immunodeficiency syndrome (ORPHA:2951)
An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978.
Absent tibia-polydactyly-arachnoid cyst syndrome (ORPHA:3328)
Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia.
Epidemiology
It has been described in 3 sibs (two males and one female).
Clinical description
The syndrome is characterized by absence or hypoplasia of the tibia, pre and postaxial polydactyly of the hands and/or feet, syndactyly of the toes, shortening and bowing of other long bones, and retrocerebellar arachnoid cyst.
Genetic counseling
Parental consanguinity reported in the family suggests an autosomal recessive pattern of inheritance.

                            Last update: 
                            December 2010
Acalvaria (ORPHA:945)
A rare congenital malformation characterized by the absence of calvarial bones, dura mater and associated muscles while skull base, facial bones and brain structures are normal. Central nervous system is usually unaffected, however some neuropathological abnormalities such as holoprosencephaly, hydrocephalus, micropolygyria and gyration anomalies can be present. Prenatal diagnosis by ultrasonography is usually confirmed by magnetic resonance imaging as it can be confused with anencephaly or encephalocele.
Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome (ORPHA:90301)
This syndrome is characterised by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy.
Epidemiology
At least five cases have been described in the literature so far.
Clinical description
Enlargement of the kidneys was also reported in some cases.
Genetic counseling
Transmission is autosomal recessive.

                            Last update: 
                            April 2008
Acatalasemia (ORPHA:926)
A rare inborn error of metabolism characterized by a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide. The disorder is usually asymptomatic but may be associated with oral ulcerations and gangrene, or diabetes mellitus and atherosclerosis in certain populations.
Accessory mitral valve tissue (ORPHA:99061)
A rare congenital non-syndromic heart malformation characterized by an accessory mitral valve leaflet or various accessory mitral valve structures. It may be asymptomatic or present at various ages with symptoms of left ventricular outflow tract obstruction, low cardiac output due to subaortic obstruction or congestive heart failure. In some cases, it may be a source of cardioembolism. The malformation may be isolated or associated with other congenital heart malformations.
Accessory pancreas (ORPHA:674)
A rare asymptomatic embryopathy characterized by the presence of pancreatic tissue in other sites of the body such as the splenic pedicle, gonadic pedicles, intestinal mesentery, duodenum wall, upper jejunum, or, more rarely, the gastric wall, ileum, gallbladder or spleen.
Epidemiology
Prevalence is unknown and only a few cases have been reported in the literature so far.
Etiology
The anomaly is caused by migration of pancreatic cells during embryogenesis.

                            Last update: 
                            April 2009


                            - Expert reviewer(s): 
                            Pr Frédéric BARGY
Accessory tricuspid valve tissue (ORPHA:95462)
A rare, congenital, atrioventricular valve malformation characterized by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnea, cyanosis, depending also on accompanying congenital heart anomaly.
Aceruloplasminemia (ORPHA:48818)
A rare adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.
Epidemiology
To date 56 cases have been reported and prevalence has been estimated at about 1/1,000,000-1/1,200,000.
Clinical description
Aceruloplasminemia presents in adulthood with neurological symptoms including ataxia, involuntary movements (blepharospasm, grimacing, facial and neck dystonia, tremors, and chorea), parkinsonism, depression, and cognitive dysfunction accompanied by retinal degeneration, diabetes mellitus, and iron-refractory anemia.
Etiology
Aceruloplasminemia is caused by a complete absence of ceruloplasmin ferroxidase activity caused by homozygous mutation of the ceruloplasmin (CP) gene (3q23-q24).
Diagnostic methods
Diagnosis is based on the absence of serum ceruloplasmin and some combination of low serum copper concentration, low serum iron concentration, high serum ferritin concentration as well as hepatic iron overload. The diagnosis is strongly supported by characteristic MRI findings of abnormal low intensities reflecting iron accumulation on the brain (striatum, thalamus, dentate nucleus) and liver on both T1- and T2- weighted images. Genetic testing can confirm the diagnosis.
Differential diagnosis
Differential diagnoses include other forms of later-onset, slowly progressing NBIA including atypical pantothenate kinase-associated neurodegeneration (PKAN) and neuroferritinopathy, hereditary hemochromatosis, Wilson disease, Huntington disease, dentatorubral pallidoluysian atrophy (DRPLA), juvenile Parkinson disease, hereditary spinocerebellar ataxias (see these terms) and drug effects or toxicity.
Antenatal diagnosis
Prenatal testing for pregnancies at increased risk may be available through laboratories offering custom prenatal testing if the disease-causing mutations have been identified in an affected family member.
Genetic counseling
Aceruloplasminemia is inherited in an autosomal recessive manner.
Management and treatment
Treatment is based on intravenous and oral iron chelators (deferiprone or deferasirox), which have been associated with improvement in diabetes and neurological symptoms. Combined IV desferrioxamine and fresh-frozen human plasma (FFP) is effective in decreasing iron content in the liver. Antioxidants such as vitamin E and oral administration of zinc may prevent tissue damage.
Prognosis
Prognosis may include heart failure due to cardiac iron overload. To date five patients with aceruloplasminemia are known to have died from heart failure probably due to cardiac iron overload in their sixties. In the absence of heart failure and with good treatment of diabetes, the prognosis is good.

                            Last update: 
                            March 2010


                            - Expert reviewer(s): 
                            Dr Hiroaki MIYAJIMA
Acetazolamide-responsive myotonia (ORPHA:99736)
A form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ).
Epidemiology
Prevalence is unknown.
Clinical description
Symptoms generally manifest during childhood (before 10 years old), with myotonia of the facial, limbs and/or intercostal muscles that is triggered by potassium ingestion, fasting and mildly by cold exposure and exercise. Muscle stiffness is generally painful. Additional clinical signs include generalized muscle hypertrophy, percussion myotonia of proximal upper extremity muscles, thenar eminence and tongue and myotonia in the eyelids. Paralysis or weakness is never observed.
Etiology
ACZ-responsive myotonia is a sodium muscle channelopathy due to missense mutations of the SCN4A gene, encoding the alpha subunit of the skeletal muscle voltage-gated sodium channel Nav1.4.
Genetic counseling
Transmission is autosomal dominant.
Management and treatment
Myotonia is dramatically improved with ACZ but when ACZ does not control myotonia or when side-effects occur such as kidney stone formation, mexiletine can be used as replacement therapy.

                            Last update: 
                            October 2010


                            - Expert reviewer(s): 
                            Dr Savine VICART
Achalasia-microcephaly syndrome (ORPHA:929)
An extremely rare genetic syndrome characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case.
Achondrogenesis type 1A (ORPHA:93299)
A rare, lethal type of achondrogenesis characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.
Achondrogenesis type 1B (ORPHA:93298)
A rare, lethal type of achondrogenesis characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.
Achondrogenesis type 2 (ORPHA:93296)
A rare, lethal type of achondrogenesis, and part of the spectrum of type 2 collagen-related bone disorders, characterized by severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.
Achondrogenesis (ORPHA:932)
A rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2.
Achromatopsia (ORPHA:49382)
A rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.
Epidemiology
The prevalence is estimated to be 1/30,000-1/50,000 worldwide.
Clinical description
ACHM is characterized by reduced visual acuity, pendular nystagmus, increased sensitivity to light (photophobia), a small central scotoma, and reduced or complete loss of color discrimination. Most individuals have complete ACHM, with total lack of function in all three types of cones. Rarely, individuals have incomplete ACHM, with similar, but generally less severe symptoms.
Etiology
Five genes (GNAT2 (1p13), PDE6C (10q24), PDE6H (12p13), CNGA3 (2q11.2), and CNGB3 (8q21.3)) have been associated with ACHM, all encoding key components of the cone phototransduction cascade (G-protein GNAT2 > phosphodiesterase PDE6C/PDE6H > cyclic nucleotide gated channel CNGA3/CNGB3). Mutations in CNGB3 are the most prevalent, followed by CNGA3, while the others are rare causes of ACHM.
Diagnostic methods
The diagnosis of ACHM is based on clinical ophthalmological examination, psychophysical testing (i.e. color vision) and electrophysiological testing (electroretinography - ERG) where a loss of photopic but normal scotopic responses is observed. Optical coherence tomography shows progressive disruption and/or loss of the inner/outer segment junction of the photoreceptors and an attenuation of the retinal pigment epithelium (RPE) within the macular region. The diagnosis is verified by molecular genetic analysis of the causative genes.
Differential diagnosis
Differential diagnosis includes blue cone monochromatism (BCM), Leber congenital amaurosis, other cone dystrophies (see these terms), and cerebral achromatopsia
Antenatal diagnosis
Prenatal diagnosis may be offered by specialized laboratories to at-risk couples.
Genetic counseling
ACHM is transmitted in an autosomal recessive manner. Carrier testing for family members at risk of mutations is possible once the disease-causing mutations have been identified in the family. Furthermore, genetic counseling should be offered to at-risk couples (both individuals are carriers of a disease-causing mutation) informing them of the 25% risk of having an affected child.
Management and treatment
There is no specific therapy available. Management is symptomatic and includes regular ophthalmological follow-up examination. Patients should be informed about the possibility of using filtering glasses or contact lenses (red tinted or brown) to reduce photophobia and to improve contrast sensitivity. Low-vision aids include high-powered magnifiers for reading.
Prognosis
ACHM is usually a stationary disease, yet macular degeneration can occur.

                            Last update: 
                            August 2013


                            - Expert reviewer(s): 
                            Dr Susanne KOHL
Acinar cell carcinoma of pancreas (ORPHA:424046)
A very rare, malignant, epithelial tumor of the pancreas characterized, macroscopically, by a usually large, well-circumscribed, fully or partially encapsulated, solid mass, often with hemorrhage, necrosis and cystic changes, in any portion of the pancreas and, histologically, by neoplastic cells with variable degrees of differentiation and morphology, ranging from acinar structures similar to normal pancreatic acini to large sheets of poorly differentiated neoplastic cells. Presenting symptoms are typically non-specific and include abdominal pain, weight loss, vomiting, nausea, and/or, less commonly, jaundice. Immunohistochemical evidence of acinar-specific products is observed. Association with Lynch syndrome, familial adenomatous polyposis, and pancreatic panniculitis has been reported.
Acitretin/etretinate embryopathy (ORPHA:40366)
A rare teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies.
Epidemiology
To date, 3 infants/fetuses with anomalies indicative or possibly indicative for the embryopathy whose mothers were treated with acitretin during the first trimester of pregnancy have been reported in the literature. In addition, 23 infants/fetuses with anomalies indicative or possibly indicative for the embryopathy whose mothers were treated with etretinate during the first trimester or before pregnancy have been reported in the literature.
Clinical description
Acitretin/Etretinate embryopathy is characterized by multiple congenital anomalies involving the central nervous system (with neurodevelopmental delay), retinal or optic-nerve, craniofacial (microcephaly, facial dysmorphism displaying epicanthal folds, low nasal bridge, anteverted nostrils, high and cleft palate, micrognathia) and ear abnormalities (microtia/anotia, cup-shaped ears, bilateral sensorineural deafness). Thymic and cardiac defects (atrioventricular canal defect, conotruncal heart malformation, aortic-arch defect) are also observed. Severe anomalies of upper and lower limbs have also been described.
Etiology
Acitretin/etretinate embryopathy is due to acitretin or etretinate exposure during the first trimester of pregnancy. Acitretin is an aromatic retinoid analog of vitamin A used for the treatment of severe forms of psoriasis and disorders of keratinization. Acitretin/etretinate have a teratogenic potential since it affects cellular differentiation and proliferation.

                            Last update: 
                            August 2014


                            - Expert reviewer(s): 
                            Pr Christof SCHAEFER
Acquired aneurysmal subarachnoid hemorrhage (ORPHA:90065)
A rare, life threatening rare neurologic disease characterized by a sudden rupture of an intracranial aneurysm into the subarachnoid space. It usually presents with a sudden, severe, excruciating headache accompanied by nausea, vomiting and syncope. Other features may include focal neurological signs, third and sixth nerve palsies, seizures and cardiac failure. Early complications include rebleeding, hydrocephalus, and seizures.
Acquired angioedema type 1 (ORPHA:100056)
A type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
Epidemiology
Prevalence is unknown.
Clinical description
Like other forms of AAE it has a later onset than HAE (see this term) and occurs generally in adults over the age of 50 where there is no family history of the disease.
Etiology
The disease occurs due to an acquired C1-INH deficiency. It is often associated with lymphoproliferative or autoimmune diseases which produce immune factors that destroy C1-INH leading to low levels of C1-INH, C1q complement and C4 complement.
Management and treatment
The treatments used for HAE can be effective for AAE but the most effective strategy is the treatment of the associated disease.

                            Last update: 
                            August 2011


                            - Expert reviewer(s): 
                            Pr Laurence BOUILLET
Acquired angioedema type 2 (ORPHA:100055)
A type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
Epidemiology
Prevalence is unknown.
Clinical description
Like other forms of AAE, it has a later onset than HAE (see this term) and occurs generally in adults over the age of 50 and there is no family history of the disease.
Etiology
The disease occurs due to an acquired C1-INH deficiency caused by malfunctioning B cells that secrete autoantibodies to the C1-INH molecule that neutralize C1-INH activity. AAE type 2 is often associated with dysglobulinemia of unknown origin.
Management and treatment
The treatments used for HAE can be effective for AAE but the most effective strategy is to decrease C1-INH antibody level with corticosteroids or rituximab.

                            Last update: 
                            August 2011


                            - Expert reviewer(s): 
                            Pr Laurence BOUILLET
Acquired angioedema with C1Inh deficiency (ORPHA:528663)
A rare non-histaminic angioedema characterized by potentially life-threatening episodes of edema of subcutaneous and/or mucosal tissues without urticaria, caused by excessive consumption of C1 esterase inhibitor (C1-INH) in the context of lymphoproliferative or autoimmune diseases. Patients typically present in the fourth decade of life or later and without a family history of angioedema. Clinical manifestation includes nonpitting edema of the skin predominantly involving the face, but also the limbs or genitals, as well as abdominal pain due to involvement of the gastrointestinal mucosa, and severe edema of the upper airway and oral mucosa. Laboratory examination shows low C1-INH activity and low C3, C4, and C1q levels. Autoantibodies to C1-INH are frequently detectable.
Acquired angioedema (ORPHA:91385)
A rare disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain due to an acquired C1 inhibitor (C1-INH) deficiency.
Epidemiology
Prevalence is unknown.
Clinical description
Onset most commonly occurs after 50 years of age. Patients present with white, circumscribed nonpruritic edemas that remain for a period of 48 to 72 hours and recur with variable frequency. The edemas may involve the digestive tract resulting in a clinical picture similar to that seen in intestinal occlusion syndrome, sometimes associated with ascites and hypovolemic shock. Laryngeal edema can be life-threatening with a risk of death of 25% in the absence of appropriate treatment. Dental procedures are a triggering factor for laryngeal edema. Edemas of the face are a risk factor for laryngeal involvement.
Etiology
The edemas are triggered by increased permeability of the blood vessels in response to elevated levels of bradykinin as a result of the C1-INH deficiency. Type 1 AAE (see this term) is frequently associated with lymphoproliferative syndromes and accelerated consumption of C1-INH, and with autoimmune diseases that may manifest several years after the initial episodes of angioedema. Type 2 AAE (see this term) is associated with the presence of autoantibodies to the C1-INH that neutralize C1-INH activity and are often associated with dysglobulinemia of unknown origin. AAE can also be induced by renin-angiotensin-aldosterone system blockers (RAAS-blocker-induced angioedema; see this term).
Diagnostic methods
Diagnosis relies on clinical findings, measurement of C4 concentrations and on quantitative and functional analysis of C1-INH. C1q levels are low in patients with AAE but are normal in patients with hereditary angioedema (see this term).
Differential diagnosis
The differential diagnosis should include intestinal occlusion syndrome, hereditary angioedema and histamine-induced angioedema (of allergenic or nonallergenic origin) generally associated with urticaria.
Management and treatment
Treatment of the associated disease should generally allow episodes to be controlled and lead to normalization of C1-INH levels. In the absence of an associated disease, the treatments used to manage the hereditary forms of angioedema may be of benefit.
Prognosis
The prognosis depends on the risk of developing hematological manifestations. Rituximab can be an alternative treatment in cases of AAE associated with C1-INH antibodies.

                            Last update: 
                            August 2011


                            - Expert reviewer(s): 
                            Pr Laurence BOUILLET