long QT syndrome 11
MONDO:0012738Mondo
Findings
No curated finding names long QT syndrome 11 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 AKAP9 gene.
Definition from the Mondo Disease Ontology (MONDO:0012738), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
2 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 QTc intervalHPOHP:0005184
- 4 of 4 reported patients
- SyncopeHPOHP:0001279
- 1 of 1 reported patient
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.
- AKAP9HGNC:379
- Limited · Ambry Genetics · Autosomal dominant · 2022
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
- A kind of
Other names
4 names
Resolves to: long QT syndrome 11
- Also called
- AKAP9 long QT syndromelong QT syndrome caused by mutation in AKAP9long QT syndrome type 11LQT11