Details of Disease

General Information of Disease (ID: DISL3MYG)

Disease Name Arrhythmogenic right ventricular dysplasia 11
Synonyms
arrhythmogenic right ventricular dysplasia, familial, 11; arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair; arrhythmogenic right ventricular dysplasia, familial, 11, and mild palmoplantar keratoderma with or without wooly hair; arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and wooly hair; arrhythmogenic right ventricular dysplasia, familial, 11, and mild palmoplantar keratoderma with or without woolly hair; arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and wooly hair; arrhythmogenic right ventricular dysplasia 11; DSC2 familial isolated arrhythmogenic right ventricular dysplasia; familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in DSC2; arrhythmogenic right ventricular dysplasia, familial, type 11; arrhythmogenic right ventricular cardiomyopathy 11; arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair; ARVC11; arrhythmogenic right ventricular dysplasia type 11; ARVD11; familial arrhythmogenic right ventricular dysplasia 11
Definition Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the DSC2 gene.
Disease Hierarchy
DISBIOAZ: Familial isolated arrhythmogenic right ventricular dysplasia
DISL3MYG: Arrhythmogenic right ventricular dysplasia 11
Disease Identifiers
MONDO ID
MONDO_0012506
MESH ID
C566471
UMLS CUI
C1864850
OMIM ID
610476
MedGen ID
351237

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
DSC2 OTODVH8K Definitive Semidominant [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.