{"orpha":3002,"name":"Immune thrombocytopenia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ITP","Immune thrombocytopenic purpura"],"definition":"A rare autoimmune coagulation disorder characterized by isolated thrombocytopenia (a platelet count <100,000/microL), in the absence of any underlying disorder that may be associated with thrombocytopenia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3002/","orphanet_url":"https://www.orpha.net/en/disease/detail/3002","names":{"fr":{"name":"Thrombopénie immune","synonyms":["Purpura thrombopénique immunologique","TPI","Thrombocytopénie immune"],"definition":"Coagulopathie rare d'origine auto-immune, caractérisée par une thrombopénie isolée (nombre de plaquettes inférieur à 100 000/microL), survenant en l'absence de toute maladie sous-jacente pouvant être associée à une thrombopénie."},"de":{"name":"Immunthrombozytopenie","synonyms":["ITP","Purpura, immune thrombozytopenische"],"definition":"Eine autoimmune Gerinnungsstörung, die durch eine isolierte Thrombozytopenie (Thrombozytenzahl <100.000/microL) gekennzeichnet ist, ohne dass eine Grunderkrankung vorliegt, die mit einer Thrombozytopenie einhergehen könnte."},"es":{"name":"Trombocitopenia inmune","synonyms":["ITP","PTI","Púrpura trombocitopénica inmune"],"definition":"Es un trastorno de la coagulación, poco frecuente y de origen autoinmune, caracterizado por trombocitopenia aislada (recuento de plaquetas <100 x 10 ^/L), en ausencia de otro trastorno subyacente que pudiese estar asociado a trombocitopenia."},"it":{"name":"Trombocitopenia immune","synonyms":["ITP","Porpora trombocitopenica autoimmune","Trombocitopenia immune"],"definition":"La trombocitopenia immune (ITP) è una malattia autoimmune rara della coagulazione, caratterizzata da trombocitopenia isolata (numero di piastrine <100,000/microL), in assenza di altre patologie."},"nl":{"name":"Immuuntrombocytopenie","synonyms":["ITP","Immuuntrombocytopenische purpura"],"definition":"Een zeldzame auto-immune coagulatiestoornis, gekarakteriseerd door geïsoleerde trombocytopenie (aantal trombocyten <100.000/microL), in afwezigheid van enige onderliggende aandoening die kan geassocieerd zijn met trombocytopenie."},"pt":{"name":"Trombocitopénica imune","synonyms":["Púrpura trombocitopénica imune"],"definition":"A púrpura trombocitopénica imune (ou trombocitopenia imune; PTI) é uma doença de coagulação autoimune caracterizada por trombocitopenia isolada (uma contagem de plaquetas <100,000/microL), na ausência de qualquer doença subjacente que possa estar associada a trombocitopenia."},"pl":{"name":"Pierwotna małopłytkowość immunologiczna","synonyms":["ITP","plamica małopłytkowa, autoimmunologiczna"]},"cs":{"name":"Idiopatická trombocytopenická purpura","synonyms":["ITP","Imunitní trombocytopenie","Autoimunitní trombocytopenická purpura"]},"uk":{"name":"Імунна тромбоцитопенія","synonyms":["Імунна тромбоцитопенічна пурпура","ITP"],"definition":"A rare autoimmune coagulation disorder characterized by isolated thrombocytopenia (a platelet count <100,000/microL), in the absence of any underlying disorder that may be associated with thrombocytopenia."},"zh":{"name":"免疫性血小板减少症","synonyms":["免疫性血小板减少性紫癜"]},"tr":{"name":"İmmün trombositopeni","synonyms":["ITP","İmmün trombositopenik purpura"]}},"xrefs":[{"source":"OMIM","code":"188030","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D69.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B64.10","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"364346400"},{"source":"MONDO","code":"0008558","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D016553","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0398650","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5194","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083842","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":71203,"name":"Autoimmune thrombocytopenia","classifications":[194]}],"children":[],"genes":[{"symbol":"FCGR2C","name":"Fc gamma receptor IIc (gene/pseudogene)","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"17827395[PMID]","hgnc":"15626","ensembl":"ENSG00000244682","omim":"612169","loci":["1q23.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":25.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2007[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":9.5,"area":"United States","status":"Validated","source":"19200301[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":3.9,"area":"United Kingdom","status":"Validated","source":"19245432[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":6.75,"area":"Europe","status":"Not yet validated","source":"ISBN:70703868[OTHER]_ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.68,"area":"Denmark","status":"Validated","source":"10419881[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":45.0,"area":"Denmark","status":"Validated","source":"20066507[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.9,"area":"France","status":"Validated","source":"25305203[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-02-16","source":"32965953[PMID]_30725925[PMID]_27817251[PMID]_27222699[PMID]_26869291[PMID]_26456477[PMID]","terms":[{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025329","label":"Anti-glutamic acid decarboxylase antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034062","label":"Anti-insulin antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034063","label":"Anti-islet antigen-2 antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:4000170","label":"Anti-platelet antigen antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032069","label":"Anti-thyroglobulin antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025379","label":"Anti-thyroid peroxidase antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034189","label":"Anti-thyroid-stimulating hormone receptor antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004420","label":"Arterial thrombosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030908","label":"Liver kidney microsome type 1 antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000967","label":"Petechiae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000979","label":"Purpura","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034263","label":"Abnormal vaginal bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000225","label":"Gingival bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001342","label":"Cerebral hemorrhage","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011885","label":"Hemorrhage of the eye","frequency":"Very rare (<4-1%)","criteria":null}]}}