{"orpha":3287,"name":"Takayasu arteritis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare predominantly large-vessel vasculitis that is characterized by affected aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3287/","orphanet_url":"https://www.orpha.net/en/disease/detail/3287","names":{"fr":{"name":"Artérite de Takayasu","definition":"Vascularite rare touchant principalement les vaisseaux de gros calibre, caractérisée par une atteinte de l'aorte et de ses branches principales, mais également d'autres vaisseaux de gros calibre, à l'origine d'une sténose, d'une occlusion ou d'un anévrysme."},"de":{"name":"Takayasu-Arteriitis","definition":"Eine seltene, vorwiegend großgefäßige Vaskulitis, bei der die Aorta und ihre Hauptäste, aber auch andere große Gefäße betroffen sind, was zu Verengungen, Verschlüssen oder Aneurysmen führt."},"es":{"name":"Arteritis de Takayasu","synonyms":["Enfermedad de Takayasu"],"definition":"Es una vasculitis poco frecuente de los grandes vasos predominantemente caracterizada por la afectación de la aorta y sus ramas principales, así como de otros grandes vasos, causando estenosis, oclusión o aneurisma."},"it":{"name":"Arterite di Takayasu","definition":"L'arterite di Takayasu (TAK) è una vasculite rara dei grandi vasi, che colpisce soprattutto l'aorta e i suoi rami principali, ma anche altri grandi vasi, causandone la stenosi e l'occlusione oppure la formazione di aneurismi."},"nl":{"name":"Takayasu-arteriitis","definition":"Een zeldzame vasculitis van voornamelijk de grote bloedvaten die gekarakteriseerd wordt door aantasting van de aorta en de grote vertakkingen van de aorta, maar ook van andere grote bloedvaten, met stenose, occlusie of aneurysma tot gevolg."},"pt":{"name":"Arterite de Takayasu"},"pl":{"name":"Zapalenie tętnic Takayasu"},"cs":{"name":"Takayasuova arteriitida"},"uk":{"name":"Артеріїт Такаясу","definition":"A rare predominantly large-vessel vasculitis that is characterized by affected aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm."},"zh":{"name":"Takayasu大动脉炎"},"tr":{"name":"Takayasu arteriti"}},"xrefs":[{"source":"OMIM","code":"207600","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M31.4","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"4A44.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1327645131"},{"source":"MONDO","code":"0017991","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D013625","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0039263","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7730","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10043097","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":156140,"name":"Predominantly large-vessel vasculitis","classifications":[196,198]},{"orpha":280369,"name":"Rare pediatric vasculitis","classifications":[231]},{"orpha":567560,"name":"Systemic vasculitis associated with glomerulopathy","classifications":[188,233]}],"children":[],"genes":[{"symbol":"HLA-B","name":"major histocompatibility complex, class I, B","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23830516[PMID]_23830507[PMID]","hgnc":"4932","ensembl":"ENSG00000234745","omim":"142830","loci":["6p21.33"]},{"symbol":"IL12B","name":"interleukin 12B","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23830516[PMID]_23830507[PMID]","hgnc":"5970","ensembl":"ENSG00000113302","omim":"161561","loci":["5q33.3"]},{"symbol":"MLX","name":"MAX dimerization protein MLX","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23830516[PMID]_23830507[PMID]","hgnc":"11645","ensembl":"ENSG00000108788","omim":"602976","loci":["17q21.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.084,"area":"Europe","status":"Validated","source":"ORPHANET_27159262[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.34,"area":"Europe","status":"Validated","source":"ORPHANET_27159262[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.06,"area":"United Kingdom","status":"Validated","source":"ORPHANET_19542212[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.0,"area":"Japan","status":"Validated","source":"9119531[PMID]"},{"type":"Annual incidence","qualification":"Value and 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validated","source":"15696553[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.78,"area":"Kuwait","status":"Validated","source":"7563255[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.15,"area":"Japan","status":"Not yet validated","source":"1360971[PMID]_ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.13,"area":"Lithuania","status":"Validated","source":"15647446[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.22,"area":"Kuwait","status":"Validated","source":"7563255[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.26,"area":"United States","status":"Validated","source":"2858047[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 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000","value":0.092,"area":"Poland","status":"Validated","source":"30260188[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-04-16","source":"29083666[PMID]_37525862[PMID]_34907753[PMID]","terms":[{"hpo":"HP:0001654","label":"Abnormal heart valve morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100545","label":"Arterial stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012089","label":"Arteritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002617","label":"Dilatation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100735","label":"Hypertensive crisis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002633","label":"Vasculitis","frequency":"Very frequent 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