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cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2

Disease Summary
Associated Targets (2)
Tchem

2


Mondo Description Any CADASIL in which the cause of the disease is a mutation in the HTRA1 gene.
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:0014768:  cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
DOID:0111036: CADASIL 2
UMLS:C4225211: