{"orpha":199354,"name":"Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CARASIL","Maeda syndrome"],"definition":"CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-199354/","orphanet_url":"https://www.orpha.net/en/disease/detail/199354","names":{"fr":{"name":"Artériopathie cérébrale autosomique récessive-infarctus sous-cortical-leucoencéphalopathie","synonyms":["CARASIL","Syndrome de Maeda"],"definition":"CARASIL est une maladie héréditaire des petits vaisseaux cérébraux caractérisée par des troubles de la marche d'apparition précoce, une alopécie prématurée du cuir chevelu, des épisodes ischémiques, des douleurs lombaires et des troubles cognitifs progressifs entrainant une démence sévère."},"de":{"name":"Zerebrale Arteriopathie mit subkortikalen Infarkten und Leukoenzephalopathie, autosomal-rezessiv","synonyms":["CARASIL","Maeda-Syndrom"],"definition":"CARASIL (Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy) ist eine erbliche Erkrankung der kleinen Hirngefäße und gekennzeichnet durch früh auftretende Gangstörungen, vorzeitige Alopezie der Kopfhaut (Alopecia praematura), ischämischen Schlaganfall, Schmerzen in der mittleren bis unteren Rückenpartie und fortschreitende kognitive Beeinträchtigungen, die zu schwerer Demenz führen."},"es":{"name":"Arteriopatía cerebral autosómica recesiva-infarto subcortical-leucoencefalopatía","synonyms":["CARASIL","Síndrome de Maeda"],"definition":"CARASIL es una enfermedad cerebral y hereditaria de pequeños vasos que se caracteriza por alteraciones de la marcha de aparición temprana, alopecia prematura del cuero cabelludo, accidente cerebrovascular isquémico, dolor agudo de la mitad inferior de la espalda y alteraciones cognitivas progresivas que conducen a una demencia grave."},"it":{"name":"CARASIL","synonyms":["Arteriopatia cerebrale autosomica recessiva con infarti subcorticali e leucoencefalopatia","Sindrome di Maeda"],"definition":"La CARASIL è una malattia ereditaria dei piccoli vasi cerebrali, con disturbi della deambulazione a esordio precoce, alopecia prematura del cuoio capelluto, ictus ischemico acuto, dolore acuto alla metà inferiore della schiena e disturbi cognitivi progressivi che esitano in demenza grave."},"nl":{"name":"Cerebrale autosomaal recessieve arteriopathie - subcorticale infarcten - leuko-encefalopathie","synonyms":["CARASIL","Syndroom van Maeda"],"definition":"CARASIL is een erfelijke aandoening van de kleine bloedvaten in de hersenen die wordt gekarakteriseerd door een vroege aanvang van gangstoornissen, premature alopecia van de hoofdhuid, ischemische beroerte, acute pijn in de midden- en onderrug, en progressieve cognitieve stoornissen die leiden tot ernstige dementie."},"pt":{"name":"Arteriopatia cerebral autossómica recessiva-enfartes subcorticais-leucoencefalopatia","synonyms":["CARASIL"]},"pl":{"name":"CARASIL","synonyms":["Mózgowa autosomalna recesywna arteriopatia z zawałami podkorowymi i leukoencefalopatią","Zespół Maeda"]},"cs":{"name":"Mozečková autozomálně recesivní arteriopatie, subkortikální infarkty a leukoencefalopatie","synonyms":["Cerebrální autozomálně recesivní arteriopatie se subkortikálními infarkty a leukoencefalopatií","Maedaův syndrom"]},"uk":{"name":"Церебральна аутосомно-рецесивна артеріопатія - підкіркові інфаркти - лейкоенцефалопатія","synonyms":["CARASIL","Синдром Маєда"],"definition":"CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia."},"zh":{"name":"常染色体隐性型脑动脉病，伴皮质下梗死和白质脑病","synonyms":["Maeda综合征"],"definition":"常染色体隐性遗传性脑动脉病-皮质下梗死-脑白质病变是一种遗传性脑部小血管疾病，其主要临床表现为早发性步态障碍、早发性脱发、缺血性卒中、急性中下部腰痛和进行性认知障碍所致严重痴呆。"},"tr":{"name":"Serebral otozomal resesif arteriyopati-subkortikal enfarktlar-lökoensefalopati","synonyms":["CARASIL","Maeda sendromu"]}},"xrefs":[{"source":"OMIM","code":"600142","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I67.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B22.C1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"984450655"},{"source":"MONDO","code":"0010829","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563990","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1838577","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10424","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081315","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":"20437615[PMID]_22900900[PMID]_21482952[PMID]_21115960[PMID]_19387015[PMID]","hgnc":"9476","ensembl":"ENSG00000166033","omim":"602194","loci":["10q26.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-12-02","source":"20437615[PMID]_29322992[PMID]","terms":[{"hpo":"HP:0002634","label":"Arteriosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003418","label":"Back pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008480","label":"Cervical spondylosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030892","label":"Deep cerebral white matter hyperdensities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040161","label":"Localized osteoporosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012514","label":"Lower limb pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007024","label":"Pseudobulbar paralysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002497","label":"Spastic ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002401","label":"Stroke-like episode","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012671","label":"Abulia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012672","label":"Akinetic mutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002293","label":"Alopecia of scalp","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000741","label":"Apathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002506","label":"Diffuse cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030833","label":"Neck pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003657","label":"Granular osmiophilic deposits (GROD) in cells","frequency":"Excluded (0%)","criteria":null}]}}