Details of Disease | DrugMAP

General Information of Disease (ID: DISKH1VI)

Disease Name	Moyamoya disease 5
Synonyms	MYMY5; Moyamoya disease caused by mutation in ACTA2; Moyamoya disease 5; Moyamoya disease type 5; ACTA2 Moyamoya disease
Definition	Any Moyamoya disease in which the cause of the disease is a mutation in the ACTA2 gene.
Disease Hierarchy	DISO62CA: Moyamoya disease DISKH1VI: Moyamoya disease 5
Disease Identifiers	MONDO ID MONDO_0013542 UMLS CUI C3279690 OMIM ID 614042 MedGen ID 481320

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACTA2	OTEDLG8E	Strong	Autosomal dominant	[1]
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References

1	Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome. Am J Med Genet A. 2022 Aug;188(8):2389-2396. doi: 10.1002/ajmg.a.62775. Epub 2022 May 14.