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cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1

Disease Summary
Associated Targets (3)
Tchem

2

Tdark

1


GARD Rare
Mondo Description A CADASIL characterized by migraine, strokes, and white matter lesions that has material basis in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.
Uniprot Description A cerebrovascular disease characterized by multiple subcortical infarcts, pseudobulbar palsy, dementia, and the presence of granular deposits in small cerebral arteries producing ischemic stroke.
Mondo Term and Equivalent IDs
MONDO:0000914:  cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
DOID:0111035: CADASIL 1
GARD:0001049: 
MESH:D046589: 
NCIT:C84606: 
OMIM:125310: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
Orphanet:136: 
SCTID:390936003: 
UMLS:C0751587: