Details of Disease

General Information of Disease (ID: DISBHWTY)

Disease Name Arrhythmogenic right ventricular dysplasia 9
Synonyms
arrhythmogenic right ventricular dysplasia, familial, 9; arrhythmogenic right ventricular dysplasia, familial, type 9; ARVC9; familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in PKP2; arrhythmogenic right ventricular dysplasia type 9; PKP2 familial isolated arrhythmogenic right ventricular dysplasia; arrhythmogenic right ventricular dysplasia 9; familial arrhythmogenic right ventricular dysplasia 9; ARVD9; arrhythmogenic right ventricular cardiomyopathy 9
Definition Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the PKP2 gene.
Disease Hierarchy
DISBIOAZ: Familial isolated arrhythmogenic right ventricular dysplasia
DISBHWTY: Arrhythmogenic right ventricular dysplasia 9
Disease Identifiers
MONDO ID
MONDO_0012180
MESH ID
C563808
UMLS CUI
C1836906
OMIM ID
609040
MedGen ID
373205

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
PKP2 OTJOVF68 Definitive Autosomal dominant [1]
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References

1 Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2. Hum Mutat. 2006 Nov;27(11):1157. doi: 10.1002/humu.9461.