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
OMIM
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 1 - 10 of 17 in total
Gene ID Gene Symbol Description Source
88 ACTN2 actinin alpha 2
1000 CDH2 cadherin 2
1674 DES desmin
1823 DSC1 desmocollin 1
1824 DSC2 desmocollin 2
1825 DSC3 desmocollin 3
1829 DSG2 desmoglein 2
1832 DSP desmoplakin
3570 IL6R interleukin 6 receptor
3728 JUP junction plakoglobin
Displaying entries 1 - 10 of 15 in total
Gene ID Gene Symbol Description Source
11472 Actn2 actinin alpha 2
12558 Cdh2 cadherin 2
13346 Des desmin
13505 Dsc1 desmocollin 1
13506 Dsc2 desmocollin 2
13507 Dsc3 desmocollin 3
13511 Dsg2 desmoglein 2
14609 Gja1 gap junction protein, alpha 1
16194 Il6ra interleukin 6 receptor, alpha
16480 Jup junction plakoglobin
Displaying all 5 entries
Gene ID Gene Symbol Description Source
25665 Scn5a sodium voltage-gated channel alpha subunit 5
25717 Tgfb3 transforming growth factor, beta 3
81679 Jup junction plakoglobin
83501 Cdh2 cadherin 2
689560 Ryr2 ryanodine receptor 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
32619 para paralytic
Displaying all 3 entries
Gene ID Gene Symbol Description Source
30291 cdh2 cadherin 2, type 1, N-cadherin (neuronal)
560026 dsg2.1 desmoglein 2, tandem duplicate 1
560091 dsc2l desmocollin 2 like
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
378518 cdh2.L cadherin 2 L homeolog Xenopus laevis (African clawed frog)

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Acknowledgements

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


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Last updated: December 9, 2024