{"orpha":71289,"name":"Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["ATRUS syndrome"],"definition":"Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterised by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the <i>HOXA11</i> gene (7p15).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-71289/","orphanet_url":"https://www.orpha.net/en/disease/detail/71289","names":{"fr":{"name":"Syndrome de synostose radio-ulnaire-thrombocytopénie amégacaryocytique","synonyms":["Syndrome ATRUS"],"definition":"Le syndrome de synostose radio-ulnaire-thrombocytopénie amégacaryocytique est caractérisé par l'association d'une fusion proximale du radius et du cubitus et d'une thrombocytopénie par amégacaryocytose congénitale. Moins de 10 cas ont été décrits dans la littérature à ce jour. Ce syndrome se transmet sur le mode autosomique dominant et est dû à des mutations du gène <i>HOXA11</i> (7p15)."},"de":{"name":"Radioulnare Synostose-amegakaryozytische Thrombozytopenie-Syndrom","synonyms":["ATRUS-Syndrom","Syndrom der Radioulnar-Synostose mit amegakaryozytärer Thrombozytopenie"],"definition":"Dieses Syndrom ist gekennzeichnet durch gemeinsames Auftreten von proximaler Radius-Ulna-Fusion und amegakaryozytischer Thrombozytopenie."},"es":{"name":"Síndrome de sinostosis radiocubital-trombocitopenia amegacariocítica","definition":"Es un síndrome caracterizado por fusión proximal del cúbito y del radio asociada con trombocitopenia amegacariocítica congénita. Hasta la fecha, se han descrito menos de 10 casos. El síndrome es de herencia autosómica dominante, y está causado por mutaciones en el gen <i>HOXA11</i> (7p15)."},"it":{"name":"Sinostosi radio-ulna - trombocitopenia amegacariocitica","synonyms":["Sindrome ATRUS"]},"nl":{"name":"Radio-ulnaire synostose - amegakaryocytaire trombocytopenie-syndroom","synonyms":["ATRUS-syndroom"],"definition":"Radio-ulnaire synostose - amegakaryocytaire trombocytopenie-syndroom wordt gekenmerkt door de associatie van proximale fusie van radius en ulna met congenitale amegakaryocytaire trombocytopenie. Tot op heden werden minder dan 10 gevallen gerapporteerd in de literatuur. Het syndroom wordt overgeërfd als een autosomaal dominant kenmerk, en wordt veroorzaakt door mutaties in het gen <i>HOXA11</i> (7p15)."},"pt":{"name":"Síndrome de sinostose radio-cubital-trombocitopenia amegacariocítica","synonyms":["Síndrome ATRUS"]},"pl":{"name":"Synostoza promieniowo-łokciowa - małopłytkowość amegakariocytowa","synonyms":["Zespół ATRUS"]},"cs":{"name":"Syndrom zahrnující radioulnární synostózu a amegakaryocytickou trombocytopenii","synonyms":["ATRUS syndrom"]},"uk":{"name":"Синдром радіоульнарного синостозу-амегакаріоцитарної тромбоцитопенії","synonyms":["Синдром ATRUS"],"definition":"Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterised by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the <i>HOXA11</i> gene (7p15)."},"zh":{"name":"桡尺骨融合-无巨核细胞性血小板减少综合征","synonyms":["ATRUS综合征"]},"tr":{"name":"Radyo-ulnar sinostoz-amegakaryositik trombositopeni sendromu","synonyms":["ATRUS sendromu"]}},"xrefs":[{"source":"OMIM","code":"605432","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"616738","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B64.01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1768123393"},{"source":"MONDO","code":"0011555","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303670","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93459,"name":"Syndrome with synostosis or other joint formation defect","classifications":[147,156,199]},{"orpha":477794,"name":"Syndromic constitutional thrombocytopenia","classifications":[156,194]}],"children":[],"genes":[{"symbol":"HOXA11","name":"homeobox A11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11101832[PMID]","hgnc":"5101","ensembl":"ENSG00000005073","omim":"142958","loci":["7p15.2"]},{"symbol":"MECOM","name":"MDS1 and EVI1 complex locus","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26581901[PMID]","hgnc":"3498","ensembl":"ENSG00000085276","omim":"165215","loci":["3q26.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"11442476[PMID]","terms":[{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002974","label":"Radioulnar synostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004859","label":"Amegakaryocytic thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null}]}}