long QT syndrome 13
MONDO:0013279Mondo
Findings
No curated finding names long QT syndrome 13 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 KCNJ5 gene.
Definition from the Mondo Disease Ontology (MONDO:0013279), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Neonatal onset · Early young adult onset
HPO, annotations 2026-09-02
Features
9 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
- 11 of 11 reported patients
- SyncopeHPOHP:0001279
- 10 of 12 reported patients
- Prolonged QTc intervalHPOHP:0005184
- 5 of 10 reported patients
- Congestive heart failureHPOHP:0001635
- 3 of 9 reported patients
- Permanent atrial fibrillationHPOHP:0004754
- 3 of 11 reported patients
- Atrioventricular blockHPOHP:0001678
- 1 of 9 reported patients
- Pulmonary embolismHPOHP:0002204
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.
- KCNJ5HGNC:6266
- Limited · 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 13
- Also called
- KCNJ5 long QT syndromelong QT syndrome caused by mutation in KCNJ5long QT syndrome type 13LQT13