Details of Disease | DrugMAP

General Information of Disease (ID: DIS93Z3E)

Disease Name	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
Synonyms	Casil; dementia, hereditary multi-infarct type; cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy; CADASIL; cerebral arteriopathy with subcortical infaracts and leukoencephalopathy; cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
Disease Hierarchy	DIS6SVEE: Syndromic disease DISYKSRF: Genetic disease DISVS67S: Vascular disease DIS93Z3E: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
Disease Identifiers	MONDO ID MONDO_0007432 MESH ID D046589 UMLS CUI C0751587 MedGen ID 199687 SNOMED CT ID 390936003

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
HTRA1	TT8POQR	Limited	Genetic Variation	[1]
CTSA	TT5NILS	Strong	Biomarker	[2]
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This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL4A1	OTL6D1YE	Limited	Genetic Variation	[3]
DVL1	OTD67RF1	Strong	Biomarker	[4]
MRS2	OTICD11V	Strong	Altered Expression	[5]
NOX5	OTHTH59G	Strong	Biomarker	[6]
RNF213	OT4OVE9O	Strong	Biomarker	[7]
TREX1	OTQG7K12	Strong	Genetic Variation	[8]
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⏷ Show the Full List of 6 DOT(s)

References

1	Novel and Recurring NOTCH3 Mutations in Two Chinese Patients with CADASIL.Neurodegener Dis. 2019;19(1):35-42. doi: 10.1159/000500166. Epub 2019 Jun 18.
2	Genetic Factors of Cerebral Small Vessel Disease and Their Potential Clinical Outcome.Int J Mol Sci. 2019 Sep 3;20(17):4298. doi: 10.3390/ijms20174298.
3	Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.Brain. 2015 Feb;138(Pt 2):284-92. doi: 10.1093/brain/awu353. Epub 2014 Dec 19.
4	Mapping and sequencing rat dishevelled-1: a candidate gene for cerebral ischaemic insult in a rat model of stroke.Neurogenetics. 2001 Mar;3(2):99-106. doi: 10.1007/s100480000099.
5	Vitamin D levels in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).Neurol Sci. 2017 Jul;38(7):1333-1336. doi: 10.1007/s10072-017-2900-2. Epub 2017 Apr 4.
6	ER stress and Rho kinase activation underlie the vasculopathy of CADASIL.JCI Insight. 2019 Dec 5;4(23):e131344. doi: 10.1172/jci.insight.131344.
7	RNF213-related susceptibility of Japanese CADASIL patients to intracranial arterial stenosis.J Hum Genet. 2018 May;63(5):687-690. doi: 10.1038/s10038-018-0428-9. Epub 2018 Mar 2.
8	A homozygous NOTCH3 mutation p.R544C and a heterozygous TREX1 variant p.C99MfsX3 in a family with hereditary small vessel disease of the brain.J Chin Med Assoc. 2013 Jun;76(6):319-24. doi: 10.1016/j.jcma.2013.03.002. Epub 2013 Apr 18.