atrial fibrillation, familial, 3
Findings
No curated finding names atrial fibrillation, familial, 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNQ1 gene.
Definition from the Mondo Disease Ontology (MONDO:0011857), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
6 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.
- Permanent atrial fibrillationHPOHP:0004754
- 18 of 22 reported patients
- Paroxysmal atrial fibrillationHPOHP:0004757
- 4 of 6 reported patients
- Prolonged QTc intervalHPOHP:0005184
- 9 of 16 reported patients
- SyncopeHPOHP:0001279
- 2 of 16 reported patients
- Sudden cardiac deathHPOHP:0001645
- 0 of 16 reported patients
- Atrial fibrillationHPOHP:0005110
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.
- KCNQ1HGNC:6294
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: atrial fibrillation, familial, 3
- Also called
- atrial fibrillation, familial, type 3familial atrial fibrillation caused by mutation in KCNQ1KCNQ1 familial atrial fibrillation