sinoatrial node dysfunction and deafness
Findings
No curated finding names sinoatrial node dysfunction and deafness yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress.
Definition from the Mondo Disease Ontology (MONDO:0013960), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
5 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.
- BradycardiaHPOHP:0001662
- 6 of 6 reported patients
- Hearing impairmentHPOHP:0000365
- 6 of 6 reported patients · Congenital onset
- Increased heart rate variabilityHPOHP:0031862
- 6 of 6 reported patients
- SyncopeHPOHP:0001279
- 2 of 6 reported patients
- Abnormal QRS complexHPOHP:0025074
- 0 of 6 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.
- CACNA1DHGNC:1391
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · G2P · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2024
- Supportive · Orphanet · Autosomal recessive · 2021