Details of Disease

General Information of Disease (ID: DISL7FVN)

• Disease Name: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
• Synonyms: CADASIL 2; CADASIL2; CADASIL caused by mutation in HTRA1; HTRA1 CADASIL; autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2; CADASIL type 2; cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
• Definition: Any CADASIL in which the cause of the disease is a mutation in the HTRA1 gene.
• Disease Hierarchy:
  DIS93Z3E: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
  DISL7FVN: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
• Disease Identifiers:
  MONDO ID: MONDO_0014768
  UMLS CUI: C4225211
  OMIM ID: 616779
  MedGen ID: 895965

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HTRA1	TT8POQR	Strong	Autosomal dominant	[1]
HTRA1	TT8POQR	Strong	Biomarker	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HTRA1	OTR8ACBF	Strong	Autosomal dominant	[1]

References

• [1] 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.
• [2] Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease. Brain. 2015 Aug;138(Pt 8):2347-58. doi: 10.1093/brain/awv155. Epub 2015 Jun 10.