sick sinus syndrome 2, autosomal dominant
Findings
No curated finding names sick sinus syndrome 2, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any sick sinus syndrome in which the cause of the disease is a mutation in the HCN4 gene.
Definition from the Mondo Disease Ontology (MONDO:0008102), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset · Late onset · Juvenile onset · Young adult onset · Childhood onset · Early young adult onset
HPO, annotations 2026-09-02
Features
15 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.
- Cardiac arrestHPOHP:0001695
- 1 of 1 reported patient
- Chronotropic incompetenceHPOHP:0033992
- 1 of 1 reported patient
- First degree atrioventricular blockHPOHP:0011705
- 1 of 1 reported patient
- Paroxysmal atrial fibrillationHPOHP:0004757
- 2 of 2 reported patients
- Polymorphic ventricular tachycardiaHPOHP:0031677
- 1 of 1 reported patient
- Sick sinus syndromeHPOHP:0011704
- 1 of 1 reported patient
- Sinus bradycardiaHPO
Show the remaining 3
- Prolonged QTc intervalHPOHP:0005184
- 1 of 8 reported patients
- Abnormal QT intervalHPOHP:0031547
- 0 of 1 reported patient
- Sudden cardiac deathHPOHP:0001645
- 0 of 7 reported patients
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.
- HCN4HGNC:16882
- Definitive · ClinGen · Autosomal dominant · 2025
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
- A kind of
Other names
2 names
Resolves to: sick sinus syndrome 2, autosomal dominant
- Also called
- HCN4 sick sinus syndromesick sinus syndrome caused by mutation in HCN4