{"orpha":3320,"name":"Thrombocytopenia-absent radius syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["TAR syndrome"],"definition":"A rare congenital malformation syndrome characterized by bilateral absence/hypoplasia of the radii with presence of both thumbs, and thrombocytopenia. Additional manifestations can include cow's milk allergy, anomalies of the lower limbs, heart and genitourinary system.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3320/","orphanet_url":"https://www.orpha.net/en/disease/detail/3320","names":{"fr":{"name":"Syndrome de thrombocytopénie-aplasie radiale","synonyms":["TAR syndrome"],"definition":"Syndrome rare de malformation congénitale caractérisé par une absence/hypoplasie bilatérale du radius, avec présence de pouces, et par une thrombocytopénie. Les autres manifestations peuvent inclure une allergie au lait de vache, des anomalies des membres inférieurs, des anomalies cardiaques et du système génito-urinaire."},"de":{"name":"Thrombozytopenie-Radiusaplasie-Syndrom","synonyms":["TAR-Syndrom"],"definition":"Ein seltenes angeborenes Fehlbildungssyndrom mit beidseitigem Fehlen/Hypoplasie der Speiche bei Vorhandensein beider Daumen und Thrombozytopenie. Weitere Manifestationen können Kuhmilchallergie, Anomalien der unteren Extremitäten, des Herzens und des Urogenitalsystems sein."},"es":{"name":"Síndrome de trombocitopenia-aplasia de radio","definition":"Es un síndrome malformativo congénito poco frecuente caracterizado por ausencia/hipoplasia bilateral de los radios con presencia de ambos pulgares, y trombocitopenia. Pueden presentarse otras manifestaciones como alergia a la leche de vaca y anomalías de las extremidades inferiores, cardíacas y del sistema genitourinario."},"it":{"name":"Trombocitopenia - aplasia radiale","synonyms":["Sindrome TAR"]},"nl":{"name":"Trombocytopenie - afwezige radius-syndroom","synonyms":["TAR-syndroom","Trombocytopenie - afwezige radius-syndroom","Trombocytopenie - aplasie van radius-syndroom"],"definition":"Een zeldzaam congenitaal malformatiesyndroom, gekenmerkt door bilaterale afwezigheid/hypoplasie van de radii met aanwezigheid van beide duimen, en trombocytopenie. Mogelijke bijkomende manifestaties zijn onder meer allergie voor koemelk, en anomalieën van onderste ledematen, hart en urogenitaal stelsel."},"pt":{"name":"Síndrome de trombocitopenia-agenesia radial","synonyms":["Síndrome TAR"],"definition":"Síndrome rara de malformações congénitas caracterizada por ausência/hipoplasia bilateral dos rádios com presença de ambos os polegares e trombocitopenia. Manifestações adicionais podem incluir alergia à proteína do leite de vaca e anomalias dos membros inferiores, do coração e do aparelho geniturinário."},"pl":{"name":"Trombocytopenia - brak kości promieniowej","synonyms":["Zespół TAR"],"definition":"Rzadki zespół wad wrodzonych charakteryzujący się obustronnym brakiem/niedorozwojem kości promieniowych z obecnością obu kciuków i małopłytkowością. Dodatkowe objawy mogą obejmować alergię na mleko krowie, wady kończyn dolnych, serca i układu moczowo-płciowego."},"cs":{"name":"Trombocytopenie s aplázií radia","synonyms":["TAR syndrom"]},"uk":{"name":"Синдром тромбоцитопенії та відсутності променевої кістки","synonyms":["TAR-синдром"],"definition":"A rare congenital malformation syndrome characterized by bilateral absence/hypoplasia of the radii with presence of both thumbs, and thrombocytopenia. Additional manifestations can include cow's milk allergy, anomalies of the lower limbs, heart and genitourinary system."},"zh":{"name":"血小板减少-桡骨缺失综合征","synonyms":["TAR综合征"]},"tr":{"name":"Trombositopeni- radius yokluğu sendromu","synonyms":["TAR sendromu"]}},"xrefs":[{"source":"OMIM","code":"274000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"433927766"},{"source":"MONDO","code":"0010121","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536940","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0175703","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5116","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10071719","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]},{"orpha":477794,"name":"Syndromic constitutional thrombocytopenia","classifications":[156,194]}],"children":[],"genes":[{"symbol":"RBM8A","name":"RNA binding motif protein 8A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22366785[PMID]","hgnc":"9905","ensembl":"ENSG00000265241","omim":"605313","loci":["1q21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001928","label":"Abnormality of coagulation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003974","label":"Absent radius","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006498","label":"Aplasia/Hypoplasia of the patella","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006495","label":"Aplasia/Hypoplasia of the ulna","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006507","label":"Aplasia/hypoplasia of the humerus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002673","label":"Coxa valga","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002970","label":"Genu varum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002999","label":"Patellar dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100694","label":"Tibial torsion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000119","label":"Abnormality of the genitourinary system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001181","label":"Adducted thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000151","label":"Aplasia of the uterus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004717","label":"Axial malrotation of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000891","label":"Cervical ribs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002990","label":"Fibular aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002949","label":"Fused cervical vertebrae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007413","label":"Nevus flammeus of the forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009829","label":"Phocomelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null}]}}