{"orpha":136,"name":"CADASIL","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy","Hereditary multi-infarct dementia"],"definition":"CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-136/","orphanet_url":"https://www.orpha.net/en/disease/detail/136","names":{"fr":{"name":"CADASIL","synonyms":["Artériopathie cérébrale autosomique dominant-infarctus sous-cortical-leucoencéphalopathie","Syndrome de démence-infarctus cérébraux multiples héréditaires"],"definition":"CADASIL (artériopathie cérébrale autosomique dominante avec infarctus sous-corticaux et leucoencéphalopathie) est une maladie cérébrovasculaire héréditaire se manifestant au milieu de l'âge adulte et caractérisée par l'apparition d'accidents vasculaires cérébraux (AVC) ischémiques sous-corticaux récurrents et par une atteinte cognitive progressant vers la démence. Des migraines avec aura et des troubles de l'humeur sont observés chez environ un tiers des patients."},"de":{"name":"CADASIL","synonyms":["Zerebrale autosomal-dominante Arteriopathie mit subkortikalen Infarkten und Leukenzephalopathie","Demenz mit multiplen subkortikalen Infarkten, hereditäre Form"],"definition":"CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) ist eine erbliche zerebrovaskuläre Erkrankung. Sie beginnt im mittleren Erwachsenenalter mit rezidivierenden subkortikalen ischämischen Schlaganfällen und kognitiven Defiziten, die bis zur Demenz fortschreiten. Bei etwa 1/3 der Patienten treten Migräne mit Aura und Stimmungsschwankungen auf."},"es":{"name":"CADASIL","synonyms":["Arteriopatía cerebral autosómica dominante-infartos subcorticales-leucoencefalopatía","Demencia multi-infarto hereditaria"],"definition":"El CADASIL (arteriopatía cerebral autosómica dominante con infartos subcorticales y leucoencefalopatía) es un trastorno cerebrovascular hereditario que se caracteriza por la aparición en la edad intermedia de la vida adulta de un accidente cerebrovascular isquémico subcortical recurrente y un deterioro cognitivo que progresa hasta demencia, además de migrañas con aura y cambios en el estado de ánimo observados en alrededor de un tercio de los pacientes."},"it":{"name":"CADASIL","synonyms":["Arteriopatia cerebrale autosomica dominante-infarti subcorticali-leucoencefalopatia","Demenza multi-infartuale ereditaria"],"definition":"CADASIL, (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy), arteriopatia cerebrale autosomica dominante con infarti sottocorticali e leucoencefalopatia, è una malattia cerebrovascolare ereditaria, caratterizzata dalla comparsa, nell'età adulta intermedia, di ictus ischemici sottocorticali ricorrenti e disfunzione cognitiva, che esita, in un terzo dei pazienti, in demenza, emicranie con aura e disturbi dell'umore."},"nl":{"name":"CADASIL","synonyms":["Erfelijke multi-infarctdementie","Cerebrale autosomaal dominante arteriopathie - subcorticale infarcten - leuko-encefalopathie"],"definition":"CADASIL (cerebrale autosomaal dominante arteriopathie met subcorticale infarcten en leuko-encefalopathie) is een erfelijke cerebrovasculaire aandoening die wordt gekarakteriseerd door aanvang halverwege de volwassenheid van terugkerende subcorticale ischemische beroerte en cognitieve beperkingen die evolueren tot dementie. Bij een derde van de patiënten worden bijkomend migraines met auraverschijnselen en verstoringen van het humeur waargenomen."},"pt":{"name":"Arteriopatia cerebral autossómica dominante-enfartes subcorticais-leucoencefalopatia","synonyms":["CADASIL","Demência-enfartes múltiplos, tipo hereditário"]},"pl":{"name":"CADASIL","synonyms":["Dziedziczna demencja wielozawałowa","Mózgowa autosomalna dominująca arteriopatia z podkorowymi zawałami i leukoencefalopatią"]},"cs":{"name":"Cerebrální autozomálně dominantní arteriopatie, subkortikální infarkty, leukoencefalopatie","synonyms":["Hereditární formy multiinfarktové demence","Cerebrální autozomálně dominantní arteriopatie se subkortikálními infarkty a leukoencefalopatií"]},"uk":{"name":"Церебральна аутосомно-домінантна артеріопатія - підкіркові інфаркти - лейкоенцефалопатія","synonyms":["CADASIL","Спадкова мультиінфарктна деменція"],"definition":"CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients."},"zh":{"name":"常染色体显性大脑动脉病-皮质下梗死-脑白质病","synonyms":["遗传性多灶梗塞性痴呆"]},"tr":{"name":"Serebral otozomal dominant arteriyopati-subkortikal enfarktlar-lökoensefalopati","synonyms":["CADASIL","Kalıtsal multi-enfarkt demans"]}},"xrefs":[{"source":"OMIM","code":"125310","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I67.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B22.C0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1621899838"},{"source":"MONDO","code":"0000914","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D046589","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751587","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1049","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10065551","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":477754,"name":"Genetic cerebral small vessel disease","classifications":[156,181]},{"orpha":98549,"name":"Rare cerebrovascular dementia","classifications":[156,181]},{"orpha":716459,"name":"Rare disorder with progressive retinal vasculopathy as a major feature","classifications":[189]},{"orpha":717348,"name":"Rare genetic disorder with progressive retinal vasculopathy as a major feature","classifications":[156]}],"children":[],"genes":[{"symbol":"NOTCH3","name":"notch receptor 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301673[PMID]","hgnc":"7883","ensembl":"ENSG00000074181","omim":"600276","loci":["19p13.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.0,"area":"Europe","status":"Validated","source":"12146805[PMID]_15834040[PMID]_22422895[PMID]_[EXPERT]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"United Kingdom","status":"Validated","source":"22422895[PMID]_15834040[PMID]_ [EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.0,"area":"Finland","status":"Validated","source":"12146805[PMID]_[EXPERT]_ ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-05-25","source":"20038773[PMID]_14593195[PMID]_16717211[PMID]_29478611[PMID]_27591799[PMID]","terms":[{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032325","label":"Lacunar stroke","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002352","label":"Leukoencephalopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040329","label":"Multifocal hyperintensity of cerebral white matter on MRI","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000741","label":"Apathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002637","label":"Cerebral ischemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002077","label":"Migraine with aura","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002326","label":"Transient ischemic attack","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100545","label":"Arterial stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031843","label":"Bradyphrenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001342","label":"Cerebral hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002301","label":"Hemiplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010794","label":"Impaired visuospatial constructive cognition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002140","label":"Ischemic stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002463","label":"Language impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007185","label":"Loss of consciousness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002333","label":"Motor deterioration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007236","label":"Recurrent subcortical infarcts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010992","label":"Stress urinary incontinence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Very rare (<4-1%)","criteria":null}]}}