Details of Disease | DrugMAP

General Information of Disease (ID: DIS8K64W)

Disease Name	Dilated cardiomyopathy 1AA
Synonyms	cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction; cardiomyopathy, dilated, 1AA, with or without left ventricular noncompaction; dilated cardiomyopathy type 1AA; CMD1AA; familial isolated dilated cardiomyopathy caused by mutation in ACTN2; cardiomyopathy, dilated, 1AA, with or without LVNC; dilated cardiomyopathy 1AA with or without left ventricular noncompaction; cardiomyopathy, hypertrophic, 23, with or without LVNC; ACTN2 familial isolated dilated cardiomyopathy
Definition	Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene.
Disease Hierarchy	DISBHDU9: Familial dilated cardiomyopathy DIS8K64W: Dilated cardiomyopathy 1AA
Disease Identifiers	MONDO ID MONDO_0012808 MESH ID C567407 UMLS CUI C2677338 OMIM ID 612158 MedGen ID 393713

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
ACTN2	OT9FOLD7	Moderate	Autosomal dominant	[1]
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References

1	Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. Circ Genom Precis Med. 2019 Feb;12(2):e002460. doi: 10.1161/CIRCGEN.119.002460.