catecholaminergic polymorphic ventricular tachycardia 5
Findings
No curated finding names catecholaminergic polymorphic ventricular tachycardia 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TRDN gene.
Definition from the Mondo Disease Ontology (MONDO:0014191), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
7 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.
- Polymorphic ventricular tachycardiaHPOHP:0031677
- 3 of 3 reported patients
- Premature ventricular contractionHPOHP:0006682
- 3 of 3 reported patients
- Cardiac arrestHPOHP:0001695
- 1 of 3 reported patients
- Proximal muscle weaknessHPOHP:0003701
- 1 of 3 reported patients
- ShockHPOHP:0031273
- 1 of 3 reported patients
- SyncopeHPOHP:0001279
- 1 of 3 reported patients
- Prolonged QT intervalHPOHP:0001657
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.
- TRDNHGNC:12261
- Definitive · G2P · Autosomal recessive · 2024
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
4 names
Resolves to: catecholaminergic polymorphic ventricular tachycardia 5
- Also called
- cardiac arrhythmia syndrome, with or without skeletal muscle weaknesscatecholaminergic polymorphic ventricular tachycardia caused by mutation in TRDNcatecholaminergic polymorphic ventricular tachycardia type 5TRDN catecholaminergic polymorphic ventricular tachycardia