long QT syndrome 9
MONDO:0012736Mondo
Findings
No curated finding names long QT syndrome 9 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any long QT syndrome in which the cause of the disease is a mutation in the CAV3 gene.
Definition from the Mondo Disease Ontology (MONDO:0012736), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Late young adult 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.
- Prolonged QT intervalHPOHP:0001657
- 6 of 6 reported patients
- SyncopeHPOHP:0001279
- 3 of 6 reported patients
- Sinus bradycardiaHPOHP:0001688
- 2 of 5 reported patients
- Abnormal U waveHPOHP:0025070
- 1 of 6 reported patients
- Cardiac arrestHPOHP:0001695
- 1 of 6 reported patients
- Chest painHPOHP:0100749
- 1 of 6 reported patients
- Ventricular arrhythmiaHPOHP:0004308
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.
- CAV3HGNC:1529
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
Where it sits
- A kind of
Other names
4 names
Resolves to: long QT syndrome 9
- Also called
- CAV3 long QT syndromelong QT syndrome caused by mutation in CAV3long QT syndrome type 9LQT9