{"orpha":93583,"name":"Congenital thrombotic thrombocytopenic purpura","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Congenital ADAMTS-13 deficiency","Congenital TTP","Familial TTP","Upshaw-Schulman syndrome","cTTP"],"definition":"A hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93583/","orphanet_url":"https://www.orpha.net/en/disease/detail/93583","names":{"fr":{"name":"Purpura thrombotique thrombocytopénique congénital","synonyms":["Déficit congénital en ADAMTS-13","PTT congénital","PTT familial","Syndrome d'Upshaw-Schulman","TTP congénital"],"definition":"Forme héréditaire de purpura thrombotique thrombocytopénique (PTT) caractérisée par une thrombocytopénie périphérique profonde, une anémie hémolytique microangiopathique (AHMA) et une défaillance d'un ou plusieurs organes de sévérité variable."},"de":{"name":"Kongenitale thrombotische thrombozytopenische Purpura","synonyms":["Familiäre TTP","Kongenitaler ADAMTS-13-Mangel","Upshaw-Schulman-Syndrom","cTTP"],"definition":"Eine hereditäre Form der thrombotischen thrombozytopenischen Purpura (TTP), die durch eine ausgeprägte periphere Thrombozytopenie, eine mikroangiopathische hämolytische Anämie (MAHA) und ein oder mehrere Organversagen unterschiedlichen Schweregrades gekennzeichnet ist."},"es":{"name":"Púrpura trombocitopénica trombótica congénita","synonyms":["Deficiencia congénita de ADAMTS-13","PTT congénita","PTT familiar","Síndrome de Upshaw-Schulman"],"definition":"Es una forma hereditaria de púrpura trombocitopénica trombótica (PTT) caracterizada por trombocitopenia periférica profunda, anemia hemolítica microangiopática (AMAH) y fallo orgánico único o múltiple de gravedad variable."},"it":{"name":"Porpora trombotica trombocitopenica congenita","synonyms":["cTTP","Deficit congenito di ADAMTS-13","Sindrome di Upshaw-Schulman","TTP congenita","TTP familiare"],"definition":"Si tratta della forma ereditaria della porpora trombotica trombocitopenica (TTP), caratterizzata da trombocitopenia periferica grave, anemia emolitica microangiopatica (MAHA) e insufficienza di gravità variabile di uno o più organi."},"nl":{"name":"Congenitale trombotische trombocytopenische purpura","synonyms":["Congenitale ADAMTS-13-deficiëntie","Congenitale TTP","Familiale TTP","Syndroom van Upshaw-Schulman","cTTP"],"definition":"Een hereditaire vorm van trombotische trombocytopenische purpura (TTP), gekarakteriseerd door zeer ernstige perifere trombocytopenie, microangiopathische hemolytische anemie (MAHA), en enkel- of meervoudig orgaanfalen met variabele gradaties van ernst."},"pt":{"name":"Púrpura trombocitopénica trombótica congénita","synonyms":["Deficiência ADAMTS-13 congénita","TTP congénita","TTP familiar","Síndrome Upshaw-Schulman","cTTP"]},"pl":{"name":"Wrodzona zakrzepowa plamica małopłytkowa","synonyms":["Rodzinna TTP","Wrodzona TTP","Wrodzony Niedobór ADAMTS-13","Zespół Upshawa i Schulmana"]},"cs":{"name":"Vrozená trombotická trombocytopenická purpura","synonyms":["Vrozený deficit ADAMTS-13","Vrozená TTP","Familiární TTP","Upshawův-Schulmanův syndrom","Upshaw-Schulmanův syndrom"]},"uk":{"name":"Вроджена тромботична тромбоцитопенічна пурпура","synonyms":["Вроджений дефіцит ADAMTS-13","Вроджена ТТП","Сімейний ТТП","Синдром Апшоу-Шульмана"],"definition":"A hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity."},"zh":{"name":"先天性血栓性血小板减少性紫癜","synonyms":["先天性ADAMTS-13缺乏"],"definition":"先天性血栓性血小板减少性紫癜是血栓性血小板减少性紫癜（TTP；见该词条）的遗传性类型，其特征为严重的外周血栓性血小板减少、微血管病性溶血性贫血（MAHA）和不同严重程度的单器官或多器官衰竭。"},"tr":{"name":"Doğumsal trombotik trombositopenik purpura","synonyms":["Ailesel TTP","Doğumsal TTP","Upshaw-Schulman sendromu","Doğumsal ADAMTS-13 eksikliği"]}},"xrefs":[{"source":"OMIM","code":"274150","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M31.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B64.14","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"258428739"},{"source":"MONDO","code":"0010122","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1268935","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9430","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":183589,"name":"Genetic thrombotic microangiopathy","classifications":[156]},{"orpha":183654,"name":"Rare genetic coagulation disorder","classifications":[156]},{"orpha":54057,"name":"Thrombotic thrombocytopenic purpura","classifications":[188,194,233]}],"children":[],"genes":[{"symbol":"ADAMTS13","name":"ADAM metallopeptidase with thrombospondin type 1 motif 13","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25587650[PMID]","hgnc":"1366","ensembl":"ENSG00000160323","omim":"604134","loci":["9q34.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Annual incidence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]_19847791[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]_ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":123.0,"area":"Worldwide","status":"Validated","source":"30792199[PMID]"}],"phenotypes":null}