Details of Disease | DrugMAP

General Information of Disease (ID: DISNAJ8G)

Disease Name	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Synonyms	familial vascular leukoencephalopathy; cerebral arteriopathy with subcortical infarcts and leukoencephalopathy; cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; hereditary multi-infarct dementia; dementia, hereditary multi-infarct type; cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1; cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1; autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1; CASIL; CADASIL1; CADASIL type 1; CADASIL syndrome; CADASIL 1; CADASIL
Definition	A CADASIL characterized by migraine, strokes, and white matter lesions that has material basis in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.
Disease Hierarchy	DIS93Z3E: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy DISNAJ8G: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Disease Identifiers	MONDO ID MONDO_0000914 UMLS CUI C4551768 OMIM ID 125310 MedGen ID 1634330 Orphanet ID 136

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
NOTCH3	TTVX7IA	Limited	CausalMutation	[1]
NOTCH3	TTVX7IA	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NOTCH3	OTMVVA7F	Definitive	Autosomal dominant	[2]
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References

1	Evaluation of NOTCH3 Pro167Ser Variation in a Japanese Family with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.Dement Geriatr Cogn Dis Extra. 2016 May 4;6(2):183-4. doi: 10.1159/000445499. eCollection 2016 May-Aug.
2	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.