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Standards Ontologies Notations
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 11 - 17 of 17 in total
Gene ID Gene Symbol Description Source
4000 LMNA lamin A/C
5318 PKP2 plakophilin 2
6262 RYR2 ryanodine receptor 2
6331 SCN5A sodium voltage-gated channel alpha subunit 5
7043 TGFB3 transforming growth factor beta 3
10848 PPP1R13L protein phosphatase 1 regulatory subunit 13 like
79188 TMEM43 transmembrane protein 43
Displaying entries 11 - 15 of 15 in total
Gene ID Gene Symbol Description Source
16905 Lmna lamin A
20191 Ryr2 ryanodine receptor 2, cardiac
20271 Scn5a sodium channel, voltage-gated, type V, alpha
21809 Tgfb3 transforming growth factor, beta 3
67451 Pkp2 plakophilin 2
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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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: December 9, 2024