arrhythmogenic right ventricular cardiomyopathy

Summary
Synonym
  • ARVC
  • ARVC cardiomyopathy
  • ARVD
  • arrhythmogenic right ventricular dysplasia
  • arrhythmogenic right ventricular dysplasia/cardiomyopathy
  • right ventricular ACM
Definition
An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle and limited or no involvement of the left ventricle.
Super Class
intrinsic cardiomyopathy
Disease Ontology
DOID:0050431
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 1 - 10 of 11 in total
Gene ID Gene Symbol Description Source
88 ACTN2 actinin alpha 2
1000 CDH2 cadherin 2
1674 DES desmin
1824 DSC2 desmocollin 2
1829 DSG2 desmoglein 2
1832 DSP desmoplakin
4000 LMNA lamin A/C
5318 PKP2 plakophilin 2
6262 RYR2 ryanodine receptor 2
7043 TGFB3 transforming growth factor beta 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
13511 Dsg2 desmoglein 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
560091 dsc2l desmocollin 2 like
Related Glycoprotein
Displaying entry 11 - 11 of 11 in total
UniProt ID Protein Name Source
Q9BTV4 Transmembrane protein 43
Displaying 1 entry
UniProt ID Protein Name Source
O55111 Desmoglein-2
Displaying 1 entry
UniProt ID Protein Name Source
F1QSQ0 Desmocollin 2-like protein

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Acknowledgements

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Partly supported by NIH Common Fund Grant #1U01GM125267-01


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