{"orpha":54057,"name":"Thrombotic thrombocytopenic purpura","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Moschcowitz disease","TTP"],"definition":"An aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of a congenital (cTTP) and acquired, immune-mediated (iTTP) form.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-54057/","orphanet_url":"https://www.orpha.net/en/disease/detail/54057","names":{"fr":{"name":"Purpura thrombotique thrombocytopénique","synonyms":["Maladie de Moschcowitz","PTT"],"definition":"Forme agressive et potentiellement létale de microangiopathie thrombotique (MAT) caractérisée par une thrombocytopénie périphérique profonde, une anémie hémolytique microangiopathique (MAHA) et une défaillance organique de gravité variable. On distingue une forme congénitale (PTTc) et une forme acquise à médiation immunitaire (PTTi)."},"de":{"name":"Purpura, thrombotische thrombozytopenische","synonyms":["Moschcowitz-Krankheit","TTP"],"definition":"Eine aggressive und lebensbedrohliche Form der thrombotischen Mikroangiopathie (TMA), die durch eine ausgeprägte periphere Thrombozytopenie, mikroangiopathische hämolytische Anämie (MAHA) und Organversagen unterschiedlichen Schweregrades gekennzeichnet ist. Man unterscheidet eine kongenitale Form (cTTP) und eine erworbene, immunvermittelte Form (iTTP)."},"es":{"name":"Púrpura trombótica trombocitopénica","definition":"Es una forma agresiva y potencialmente mortal de microangiopatía trombótica (MAT) caracterizada por trombocitopenia periférica profunda, anemia hemolítica microangiopática (AHMA) y fallo orgánico de gravedad variable e incluye una forma congénita (PTTc) y una forma adquirida inmunomediada (PTTi)."},"it":{"name":"Porpora trombotica trombocitopenica","definition":"La porpora trombotica trombocitopenica (TTP) è una forma aggressiva e potenzialmente letale di microangiopatia trombotica (TMA), caratterizzata da trombocitopenia periferica profonda, anemia emolitica microangiopatia (MAHA) e insufficienza d'organo di gravità variabile. Esistono due forme della malattia, quella congenita (cTTP) e la forma acquisita immunomediata (iTTP)."},"nl":{"name":"Trombotische trombocytopenische purpura","synonyms":["TTP","Ziekte van Moschcowitz"],"definition":"Een agressieve en levensbedreigende vorm van trombotische microangiopathie (TMA), gekenmerkt door ernstige perifere trombocytopenie, microangiopathische hemolytische anemie (MAHA) en orgaanfalen met variabele gradaties van ernst, en bestaande uit een congenitale (cTTP) en verworven, immuungemedieerde (iTTP) vorm."},"pt":{"name":"Púrpura trombocitopénica trombótica","definition":"Uma forma agressiva e com risco de vida associado de microangiopatia trombótica (MAT) caracterizada por trombocitopenia periférica profunda, anemia hemolítica microangiopática (AHMA) e falência de órgãos de gravidade variável e engloba uma forma congénita (cTTP) e outra adquirida, imunomediada (iTTP) ."},"pl":{"name":"Zakrzepowa plamica małopłytkowa","synonyms":["Choroba Moschcowitza","TTP"]},"cs":{"name":"Trombotická trombocytopenická purpura","synonyms":["TTP","Moschcowitzův syndrom"]},"uk":{"name":"Тромботична тромбоцитопенічна пурпура","synonyms":["Хвороба Мошковіца","TTP"],"definition":"An aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of a congenital (cTTP) and acquired, immune-mediated (iTTP) form."},"zh":{"name":"血栓性血小板减少性紫癜","synonyms":["Moschcowitz病"]},"tr":{"name":"Trombotik trombositopenik purpura","synonyms":["TTP","Moschcowitz hastalığı"]}},"xrefs":[{"source":"OMIM","code":"274150","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M31.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"3B64.14","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1708277768"},{"source":"MONDO","code":"0018896","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D011697","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0034155","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10043648","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":248368,"name":"Rare thrombotic disorder due to a platelet anomaly","classifications":[194]},{"orpha":93573,"name":"Thrombotic microangiopathy","classifications":[188]}],"children":[{"orpha":93583,"name":"Congenital thrombotic thrombocytopenic purpura","type":"Clinical subtype"},{"orpha":93585,"name":"Immune-mediated thrombotic thrombocytopenic purpura","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":93583,"name":"Congenital thrombotic thrombocytopenic purpura"}}],"inheritance":["Autosomal recessive","Multigenic/multifactorial"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.35,"area":"Worldwide","status":"Validated","source":"18637802[PMID]_23729372[PMID]_31730475[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-05-15","source":"28416507[PMID]","terms":[{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003324","label":"Generalized muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001937","label":"Microangiopathic hemolytic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001923","label":"Reticulocytosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045040","label":"Abnormal lactate dehydrogenase activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001658","label":"Myocardial infarction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001919","label":"Acute kidney injury","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012101","label":"Decreased serum creatinine","frequency":"Very rare (<4-1%)","criteria":null}]}}