Details of Disease

General Information of Disease (ID: DISOX2XM)

Disease Name Dilated cardiomyopathy 1R
Synonyms
left ventricular noncompaction 4; cardiomyopathy, dilated, 1R; CMD1R; dilated cardiomyopathy type 1R; cardiomyopathy, dilated, type 1R; ACTC1 familial isolated dilated cardiomyopathy; familial isolated dilated cardiomyopathy caused by mutation in ACTC1
Definition Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene.
Disease Hierarchy
DISJ4QEG: Left ventricular noncompaction
DISOX2XM: Dilated cardiomyopathy 1R
Disease Identifiers
MONDO ID
MONDO_0013261
UMLS CUI
C3150681
OMIM ID
613424
MedGen ID
462031

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
ACTC1 OTJU04B1 Strong Autosomal dominant [1]
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References

1 Human actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitro. J Mol Cell Cardiol. 2010 Feb;48(2):286-92. doi: 10.1016/j.yjmcc.2009.09.014. Epub 2009 Sep 30.