Details of Disease

General Information of Disease (ID: DIS087RB)

Disease Name Arrhythmogenic right ventricular dysplasia 10
Synonyms
arrhythmogenic right ventricular dysplasia, familial, 10; arrhythmogenic right ventricular dysplasia, familial, type 10; arrhythmogenic right ventricular dysplasia 10; arrhythmogenic right ventricular cardiomyopathy 10; ARVD10; ARVC10; DSG2 arrhythmogenic right ventricular cardiomyopathy; arrhythmogenic right ventricular dysplasia type 10; arrhythmogenic right ventricular cardiomyopathy caused by mutation in DSG2; familial arrhythmogenic right ventricular dysplasia 10
Definition Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene.
Disease Hierarchy
DISBIOAZ: Familial isolated arrhythmogenic right ventricular dysplasia
DIS087RB: Arrhythmogenic right ventricular dysplasia 10
Disease Identifiers
MONDO ID
MONDO_0012434
MESH ID
C565707
UMLS CUI
C1857777
OMIM ID
610193
MedGen ID
347543

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
DSG2 OTJPB2TO Definitive Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.