Details of Disease

General Information of Disease (ID: DIS6FOCK)

Disease Name Arrhythmogenic right ventricular dysplasia 1
Synonyms
cardiomyopathy, right ventricular dilated; arrhythmogenic right ventricular dysplasia, familial, 1; Uhl anomaly; arrhythmogenic right ventricular cardiomyopathy 1; arrhythmogenic right ventricular cardiomyopathy caused by mutation in TGFB3; arrhythmogenic right ventricular dysplasia, familial, type 1; arrhythmogenic right ventricular dysplasia type 1; ARVD1; familial arrhythmogenic right ventricular dysplasia 1; TGFB3 arrhythmogenic right ventricular cardiomyopathy; ARVC1
Definition Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TGFB3 gene.
Disease Hierarchy
DISBIOAZ: Familial isolated arrhythmogenic right ventricular dysplasia
DIS6FOCK: Arrhythmogenic right ventricular dysplasia 1
Disease Identifiers
MONDO ID
MONDO_0007152
MESH ID
C566254
UMLS CUI
C1862511
OMIM ID
107970
MedGen ID
349530

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
TGFB3 TTWOMY8 Limited Autosomal dominant [1]
TGFB3 TTWOMY8 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
TGFB3 OT2LOUQ1 Limited 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.
2 Mutations in a TGF- ligand, TGFB3, cause syndromic aortic aneurysms and dissections.J Am Coll Cardiol. 2015 Apr 7;65(13):1324-1336. doi: 10.1016/j.jacc.2015.01.040.