{"orpha":2573,"name":"Moyamoya disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Idiopathic Moyamoya disease"],"definition":"Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2573/","orphanet_url":"https://www.orpha.net/en/disease/detail/2573","names":{"fr":{"name":"Maladie de Moyamoya","synonyms":["Maladie de Moyamoya idiopathique"],"definition":"La maladie de Moyamoya (MMD) est une artériopathie intracrânienne rare associée à une sténose progressive du système vasculaire cérébral situé à la base du cerveau et causant des accidents ischémiques transitoires ou des accidents vasculaires cérébraux."},"de":{"name":"Moyamoya-Krankheit","synonyms":["Moyamoya-Krankheit, idiopathische"],"definition":"Die Moyamoya-Krankheit (MMD) ist eine seltene intrakranielle Arteriopathie, bei der es zu einer fortschreitenden Verengung des zerebralen Gefäßsystems an der Hirnbasis kommt, die transitorische ischämische Attacken oder Schlaganfälle verursacht."},"es":{"name":"Enfermedad de Moyamoya","synonyms":["Enfermedad de Moyamoya idiopática"],"definition":"Es una arteriopatía intracraneal poco frecuente que causa estenosis progresiva de la vasculatura localizada en la base cerebral, ocasionando accidentes isquémicos transitorios o cerebrovasculares."},"it":{"name":"Malattia di moyamoya"},"nl":{"name":"Moyamoya-ziekte","synonyms":["Idiopathische moyamoya-ziekte"],"definition":"Moyamoya-ziekte (MMZ) is een zeldzame intracraniële arteriopathie met progressieve stenose van de cerebrale vasculatuur ter hoogte van de hersenbasis die transiënte ischemische aanvallen of beroertes veroorzaakt."},"pt":{"name":"Doença de Moyamoya","synonyms":["Doença de Moyamoya idiopática"]},"pl":{"name":"Choroba moyamoya","synonyms":["Idiopatyczna choroba moyamoya"]},"cs":{"name":"Moyamoya onemocnění","synonyms":["Idiopathic Moyamoya disease"]},"uk":{"name":"Хвороба Моямоя","synonyms":["Ідіопатична хвороба Моямоя"],"definition":"Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes."},"zh":{"name":"烟雾病","synonyms":["特发性烟雾病"]},"tr":{"name":"Moyamoya hastalığı","synonyms":["İdiyopatik Moyamoya hastalığı"]}},"xrefs":[{"source":"OMIM","code":"252350","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"607151","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608796","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614042","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620687","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"621469","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I67.5","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"8B22.B","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"369231682"},{"source":"MONDO","code":"0016820","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D009072","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0026654","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7064","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10028047","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":477768,"name":"Moyamoya angiopathy","classifications":[181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"DIAPH1","name":"diaphanous related formin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34125151[PMID]","hgnc":"2876","ensembl":"ENSG00000131504","omim":"602121","loci":["5q31.3"]},{"symbol":"ACTA2","name":"actin alpha 2, smooth muscle","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"19409525[PMID]_20970362[PMID]","hgnc":"130","ensembl":"ENSG00000107796","omim":"102620","loci":["10q23.31"]},{"symbol":"ANO1","name":"anoctamin 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"37253099[PMID]","hgnc":"21625","ensembl":"ENSG00000131620","omim":"610108","loci":["11q13.3"]},{"symbol":"RNF213","name":"ring finger protein 213","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"21048783[PMID]_21799892[PMID]_22377813[PMID]","hgnc":"14539","ensembl":"ENSG00000173821","omim":"613768","loci":["17q25.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Multigenic/multifactorial","X-linked recessive"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.74,"area":"Japan","status":"Not yet validated","source":"9409395[PMID]_18048855[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":6.2,"area":"Japan","status":"Not yet validated","source":"9409395[PMID]_18048855[PMID]_23041378[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.43,"area":"China","status":"Validated","source":"20004511[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.92,"area":"China","status":"Validated","source":"20004511[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.048,"area":"Taiwan, Province of China","status":"Validated","source":"9409399[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.44,"area":"Taiwan, Province of China","status":"Validated","source":"9409399[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.086,"area":"United States","status":"Validated","source":"16186547[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.33,"area":"France","status":"Validated","source":"[EXPERT]"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.035,"area":"Europe","status":"Not yet validated","source":"ISBN:9783211243381[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001009","label":"Telangiectasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100659","label":"Abnormality of the cerebral vasculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null}]}}