Details of Disease | DrugMAP

General Information of Disease (ID: DIS7KGGR)

Disease Name	CARASIL syndrome
Synonyms	subcortical vascular encephalopathy, progressive; cerebrovascular disease with thin skin, alopecia, and disk disease; cerebrovascular disease with thin skin, alopecia, and disc disease; cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy; Maeda syndrome; cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CARASIL
Definition	CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.
Disease Hierarchy	DISL7FVN: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 DIS7KGGR: CARASIL syndrome
Disease Identifiers	MONDO ID MONDO_0010829 MESH ID C563990 UMLS CUI C1838577 OMIM ID 600142 MedGen ID 325051 Orphanet ID 199354 SNOMED CT ID 703219008

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
CTSA	TT5NILS	Strong	Genetic Variation	[1]
HTRA1	TT8POQR	Strong	Autosomal recessive	[2]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HTRA1	OTR8ACBF	Strong	Autosomal recessive	[2]
LTBP1	OTR7Q75L	Strong	Biomarker	[3]
SMG8	OTY9PCZY	Strong	Genetic Variation	[4]
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References

1	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.
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.
3	Cerebral small vessel disease-related protease HtrA1 processes latent TGF- binding protein 1 and facilitates TGF- signaling.Proc Natl Acad Sci U S A. 2014 Nov 18;111(46):16496-501. doi: 10.1073/pnas.1418087111. Epub 2014 Nov 4.
4	Inhibition of SMG-8, a subunit of SMG-1 kinase, ameliorates nonsense-mediated mRNA decay-exacerbated mutant phenotypes without cytotoxicity.Proc Natl Acad Sci U S A. 2013 Sep 10;110(37):15037-42. doi: 10.1073/pnas.1300654110. Epub 2013 Aug 27.