Details of Disease

General Information of Disease (ID: DISKZ5H3)

Disease Name Arrhythmogenic right ventricular dysplasia 13
Synonyms
familial arrhythmogenic right ventricular dysplasia 13; arrhythmogenic right ventricular dysplasia, familial, type 13; arrhythmogenic right ventricular dysplasia, familial, 13; arrhythmogenic right ventricular dysplasia type 13; arrhythmogenic right ventricular cardiomyopathy caused by mutation in CTNNA3; arrhythmogenic right ventricular cardiomyopathy 13; CTNNA3 arrhythmogenic right ventricular cardiomyopathy; ARVD13; ARVC13
Definition Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the CTNNA3 gene.
Disease Hierarchy
DISBIOAZ: Familial isolated arrhythmogenic right ventricular dysplasia
DISKZ5H3: Arrhythmogenic right ventricular dysplasia 13
Disease Identifiers
MONDO ID
MONDO_0000908
UMLS CUI
C3810138
OMIM ID
615616
MedGen ID
816468

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
CTNNA3 OT9Z0P1E Limited Autosomal dominant [1]
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References

1 Screening of three novel candidate genes in arrhythmogenic right ventricular cardiomyopathy. Genet Test Mol Biomarkers. 2011 Apr;15(4):267-71. doi: 10.1089/gtmb.2010.0151. Epub 2011 Jan 22.