{"orpha":482077,"name":"HTRA1-related autosomal dominant cerebral small vessel disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HTRA1-related autosomal dominant cerebral angiopathy"],"definition":"A rare genetic cerebral small vessel disease characterized by subcortical ischemic events associated with cognitive decline and gait disturbance with an age of onset typically in the sixth or seventh decade of life. Imaging reveals white matter hyperintensities, status cribrosum, lacunar infarcts, and sometimes microbleeds. Extra-neurological manifestations are absent.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-482077/","orphanet_url":"https://www.orpha.net/en/disease/detail/482077","names":{"fr":{"name":"Maladie autosomique dominante des petites artères cérébrales associée à HTRA1","synonyms":["Angiopathie cérébrale autosomique dominante associée à HTRA1"],"definition":"Maladie génétique rare des petites artères cérébrales caractérisée par des événements ischémiques sous-corticaux associés à un déclin cognitif et à des troubles de la marche. L'âge d'apparition se situe généralement dans la sixième ou la septième décennie de la vie. L'imagerie révèle des hypersignaux de la substance blanche, un état criblé, des infarctus lacunaires et parfois des micro-saignements. Les manifestations extra-neurologiques sont absentes."},"de":{"name":"Zerebrale Mikroangiopathie, HTRA1-abhängige, autosomal-dominante","synonyms":["Angiopathie, zerebrale, HTRA1-abhängige, autosomal-dominante"],"definition":"Eine seltene genetisch bedingte Erkrankung der kleinen Hirngefäße, die durch subkortikale ischämische Ereignisse mit kognitiver Beeinträchtigung und Gangstörungen gekennzeichnet ist und typischerweise im sechsten oder siebten Lebensjahrzehnt auftritt. Die Bildgebung zeigt Hyperintensitäten der weißen Substanz, Status cribrosum, lakunäre Infarkte und manchmal Mikroblutungen. Extra-neurologische Manifestationen sind nicht vorhanden."},"es":{"name":"Enfermedad cerebral de pequeño vaso autosómica dominante asociada al gen HTRA1","synonyms":["Angiopatía cerebral asociada al gen HTRA1 autosómica dominante"],"definition":"Es una enfermedad cerebral de pequeño vaso de origen genético poco frecuente caracterizada por accidentes isquémicos subcorticales asociados a deterioro cognitivo y trastorno de la marcha, por lo general con un inicio en la sexta o séptima décadas de la vida. Los estudios de imagen revelan hiperintensidad de la sustancia blanca, estado criboso, infartos lacunares y, en ocasiones, microhemorragias. Las manifestaciones extra-neurológicas están ausentes."},"it":{"name":"Malattia dei piccoli vasi cerebrali autosomica dominante correlata a HTRA1","definition":"Si tratta di una malattia genetica rara dei piccoli vasi cerebrali, caratterizzata da eventi ischemici subcorticali associati ad un declino cognitivo e ad alterazioni dell'andatura. Di solito la malattia esordisce nella sesta o nella settima decade. Le neuroimmagini mostrano iperintensità della sostanza bianca, stato cribroso, infarti lacunari e, talvolta, microemorragie. Non sono presenti sintomi extraneurologici."},"nl":{"name":"HTRA1-gerelateerde autosomaal dominante ziekte van cerebrale kleine bloedvaten","synonyms":["HTRA1-gerelateerde autosomaal dominante cerebrale angiopathie"],"definition":"Een zeldzame, genetische aandoening van cerebrale kleine bloedvaten, gekenmerkt door subcorticale ischemische gebeurtenissen, geassocieerd met cognitieve aftakeling en gangstoornis met een typische aanvangsleeftijd in het zesde of zevende levensdecennium. Beeldvorming toont hyperintensiteiten van witte stof, status cribrosum, lacunaire infarcten, en soms microbloedingen. Extra-neurologische manifestaties zijn afwezig."},"pt":{"name":"Doença dos pequenos vasos cerebrais autossómica dominante HTRA1-relacionada","synonyms":["Doença autossómica dominante das pequenas artérias cerebrais associada a HTRA1"]},"pl":{"name":"Autosomalna dominująca choroba małych naczyń mózgu zależna od HTRA-1","synonyms":["Autosomalna dominująca angiopatia mózgu zależna od HTRA-1"],"definition":"Rzadka, genetycznie uwarunkowana choroba małych naczyń mózgowych charakteryzująca się podkorowymi zdarzeniami niedokrwiennymi, powiązanymi z pogorszeniem funkcji poznawczych i zaburzeniami chodu, której początek przypada zwykle na szóstą lub siódmą dekadę życia. W badaniach obrazowych widoczna jest hiperintensywna istota biała, tkanka sitowata, zawały lakunarne, a czasami mikrokrwawienia. Pozaneurologiczne objawy nie występują."},"cs":{"name":"HTRA1-vázaná autozomálně dominantní nemoc malých cév mozku","synonyms":["HTRA1-related autosomal dominant cerebral angiopathy","HTRA1-vázaná autozomálně dominantní cerebrální angiopatie"]},"uk":{"name":"Аутосомно-домінантне захворювання дрібних судин головного мозку, повязане з HTRA1","synonyms":["HTRA1-асоційована аутосомно-домінантна церебральна ангіопатія"],"definition":"A rare genetic cerebral small vessel disease characterized by subcortical ischemic events associated with cognitive decline and gait disturbance with an age of onset typically in the sixth or seventh decade of life. Imaging reveals white matter hyperintensities, status cribrosus, lacunar infarcts, and sometimes microbleeds. Extra-neurological manifestations are absent."},"zh":{"name":"HTRA1相关常染色体显性大脑小血管疾病","synonyms":["HTRA1相关常染色体显性脑血管病"],"definition":"一种罕见的遗传性脑小血管疾病，其特征是皮质下缺血事件，与认知能力下降和步态障碍有关，发病年龄一般在六十或七十岁。影像学表现为白质增生、筛状脑、腔隙性梗塞，有时可出现微出血。神经系统外表现不存在。"},"tr":{"name":"HTRA1-ilişkili otozomal dominant serebral küçük damar hastalığı","synonyms":["HTRA1-ilişkili otozomal baskın serebral anjiyopati"]}},"xrefs":[{"source":"OMIM","code":"616779","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I67.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018832","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568568","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":482072,"name":"HTRA1-related cerebral small vessel disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"HTRA1","name":"HtrA serine peptidase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26063658[PMID]","hgnc":"9476","ensembl":"ENSG00000166033","omim":"602194","loci":["10q26.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":21.0,"area":"Worldwide","status":"Validated","source":"26063658[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26063658[PMID]"}],"phenotypes":null}