arrhythmogenic right ventricular dysplasia 12
Findings
No curated finding names arrhythmogenic right ventricular dysplasia 12 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 JUP gene.
Definition from the Mondo Disease Ontology (MONDO:0012684), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
8 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.
- Prolonged QRS complexHPOHP:0006677
- 1 of 1 reported patient
- Right ventricular cardiomyopathyHPOHP:0011663
- 3 of 3 reported patients
- T-wave inversionHPOHP:0010872
- 1 of 1 reported patient
- Ventricular arrhythmiaHPOHP:0004308
- 3 of 3 reported patients
- Palmoplantar keratodermaHPOHP:0000982
- 0 of 3 reported patients
- Woolly hairHPOHP:0002224
- 0 of 3 reported patients
- SyncopeHPOHP:0001279
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.
- JUPHGNC:6207
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
7 names
Resolves to: arrhythmogenic right ventricular dysplasia 12
- Also called
- arrhythmogenic right ventricular cardiomyopathy 12arrhythmogenic right ventricular dysplasia type 12arrhythmogenic right ventricular dysplasia, familial, type 12ARVC12ARVD12familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in JUPJUP familial isolated arrhythmogenic right ventricular dysplasia