arrhythmogenic right ventricular dysplasia 11
Findings
No curated finding names arrhythmogenic right ventricular dysplasia 11 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the DSC2 gene.
Definition from the Mondo Disease Ontology (MONDO:0012506), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Late onset · Middle age onset · Juvenile onset · 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.
- PalpitationsHPOHP:0001962
- 4 of 7 reported patients
- Sudden cardiac deathHPOHP:0001645
- 4 of 7 reported patients
- SyncopeHPOHP:0001279
- 3 of 7 reported patients
- DyspneaHPOHP:0002094
- 1 of 7 reported patients
- Right ventricular cardiomyopathyHPOHP:0011663
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.
- DSC2HGNC:3036
- Definitive · Ambry Genetics · Semidominant · 2018
- Definitive · G2P · Autosomal dominant · 2024
- Definitive · G2P · Autosomal recessive · 2024
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
Other names
9 names
Resolves to: arrhythmogenic right ventricular dysplasia 11
- Also called
- arrhythmogenic right ventricular cardiomyopathy 11arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hairarrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and wooly hairarrhythmogenic right ventricular dysplasia type 11arrhythmogenic right ventricular dysplasia, familial, type 11ARVC11ARVD11DSC2 familial isolated arrhythmogenic right ventricular dysplasiafamilial isolated arrhythmogenic right ventricular dysplasia caused by mutation in DSC2