arrhythmogenic right ventricular dysplasia 5
Findings
No curated finding names arrhythmogenic right ventricular dysplasia 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TMEM43 gene.
Definition from the Mondo Disease Ontology (MONDO:0011459), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
5 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Premature ventricular contractionHPOHP:0006682
- Prolonged QRS complexHPOHP:0006677
- Right ventricular cardiomyopathyHPOHP:0011663
- Sudden cardiac deathHPOHP:0001645
- Ventricular tachycardiaHPOHP:0004756
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TMEM43HGNC:28472
- Definitive · ClinGen · Autosomal dominant · 2018
- Definitive · G2P · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Moderate · Ambry Genetics · Autosomal dominant · 2020
Where it sits
Other names
7 names
Resolves to: arrhythmogenic right ventricular dysplasia 5
- Also called
- arrhythmogenic right ventricular cardiomyopathy 5arrhythmogenic right ventricular cardiomyopathy caused by mutation in TMEM43arrhythmogenic right ventricular dysplasia type 5arrhythmogenic right ventricular dysplasia, familial, type 5ARVC5ARVD5TMEM43 arrhythmogenic right ventricular cardiomyopathy