hypertrophic cardiomyopathy 6
Findings
No curated finding names hypertrophic cardiomyopathy 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PRKAG2 gene.
Definition from the Mondo Disease Ontology (MONDO:0010946), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
13 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.
- Shortened PR intervalHPOHP:0005165
- 1 of 1 reported patient
- Prolonged QRS complexHPOHP:0006677
- 4 of 5 reported patients
- Hypertrophic cardiomyopathyHPOHP:0001639
- 6 of 8 reported patients
- Congestive heart failureHPOHP:0001635
- 4 of 8 reported patients
- Ventricular preexcitationHPOHP:0004309
- 2 of 5 reported patients
- Wolff-Parkinson-White syndromeHPOHP:0001716
- 2 of 5 reported patients
- Aborted sudden cardiac deathHPO
Show the remaining 1
- PalpitationsHPOHP:0001962
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.
- PRKAG2HGNC:9386
- Definitive · G2P · Autosomal dominant · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
Other names
6 names
Resolves to: hypertrophic cardiomyopathy 6
- Also called
- cardiomyopathy, familial hypertrophic, type 6cardiomyopathy, hypertrophic 6CMH6hypertrophic cardiomyopathy caused by mutation in PRKAG2hypertrophic cardiomyopathy type 6PRKAG2 hypertrophic cardiomyopathy