MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
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..Starting node
..expandCADASIL ()

       Child Nodes:
........expandCADASIL 1 ()
........expandcerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 ()



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MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:7432
Name:CADASIL
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.
Alternative IDs:
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TreeNumbers:
Synonyms:CADASIL; CADASIL syndrome; Casil; cerebral arteriopathy with subcortical infaracts and leukoencephalopathy; cerebral arteriopathy with subcortical infarcts and leukoencephalopathy; cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy; cerebral arteriopathy, au
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes: IDS;
Phenotypes
Disease Causing ClinVar Variants
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