Details of Disease

General Information of Disease (ID: DISOKP5T)

Disease Name Arrhythmogenic right ventricular dysplasia 12
Synonyms
arrhythmogenic right ventricular dysplasia, familial, 12; JUP familial isolated arrhythmogenic right ventricular dysplasia; arrhythmogenic right ventricular cardiomyopathy 12; arrhythmogenic right ventricular dysplasia, familial, type 12; ARVD12; familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in JUP; arrhythmogenic right ventricular dysplasia 12; arrhythmogenic right ventricular dysplasia type 12; ARVC12; familial arrhythmogenic right ventricular dysplasia 12
Definition Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the JUP gene.
Disease Hierarchy
DISBIOAZ: Familial isolated arrhythmogenic right ventricular dysplasia
DISOKP5T: Arrhythmogenic right ventricular dysplasia 12
Disease Identifiers
MONDO ID
MONDO_0012684
MESH ID
C566925
UMLS CUI
C1969081
OMIM ID
611528
MedGen ID
409749

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
JUP TTREN0G Strong Autosomal dominant [1]
JUP TTREN0G Strong Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
JUP OTUH7VMO Strong Autosomal dominant [1]
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References

1 Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet. 2000 Jun 17;355(9221):2119-24. doi: 10.1016/S0140-6736(00)02379-5.
2 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.Genet Med. 2017 Feb;19(2):192-203. doi: 10.1038/gim.2016.90. Epub 2016 Aug 17.