hypertrophic cardiomyopathy 11
Findings
No curated finding names hypertrophic cardiomyopathy 11 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 ACTC1 gene.
Definition from the Mondo Disease Ontology (MONDO:0012799), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset · Late onset · Middle age onset · Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
17 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.
- Hypertrophic cardiomyopathyHPOHP:0001639
- 11 of 23 reported patients
- Subaortic ventricular septal bulgeHPOHP:0031971
- 5 of 14 reported patients
- PalpitationsHPOHP:0001962
- 3 of 9 reported patients
- DyspneaHPOHP:0002094
- 6 of 23 reported patients
- Cardiac arrestHPOHP:0001695
- 2 of 9 reported patients
- Chest painHPOHP:0100749
- 2 of 9 reported patients
- Complete right bundle branch blockHPOHP:0011712
Show the remaining 5
- Atrial septal defectHPOHP:0001631
- 1 of 9 reported patients
- Left anterior fascicular blockHPOHP:0011711
- 1 of 9 reported patients
- Ventricular tachycardiaHPOHP:0004756
- 1 of 9 reported patients
- Atrial flutterHPOHP:0004749
- 1 of 14 reported patients
- Congestive heart failureHPOHP:0001635
- 1 of 14 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.
- ACTC1HGNC:143
- Definitive · G2P · Autosomal dominant · 2022
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
Where it sits
- A kind of
Other names
6 names
Resolves to: hypertrophic cardiomyopathy 11
- Also called
- ACTC1 hypertrophic cardiomyopathycardiomyopathy, familial hypertrophic, type 11cardiomyopathy, hypertrophic, 11CMH11hypertrophic cardiomyopathy caused by mutation in ACTC1hypertrophic cardiomyopathy type 11