hypertrophic cardiomyopathy 16
Findings
No curated finding names hypertrophic cardiomyopathy 16 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 MYOZ2 gene.
Definition from the Mondo Disease Ontology (MONDO:0013455), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
12 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
- 8 of 8 reported patients
- PalpitationsHPOHP:0001962
- 4 of 8 reported patients
- Asymmetric septal hypertrophyHPOHP:0001670
- 2 of 8 reported patients
- Atrial fibrillationHPOHP:0005110
- 1 of 8 reported patients
- DyspneaHPOHP:0002094
- 1 of 8 reported patients
- Left bundle branch blockHPOHP:0011713
- 1 of 8 reported patients
- OrthopneaHPOHP:0012764
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.
- MYOZ2HGNC:1330
- Limited · Ambry Genetics · Autosomal dominant · 2020
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
6 names
Resolves to: hypertrophic cardiomyopathy 16
- Also called
- cardiomyopathy, familial hypertrophic, type 16cardiomyopathy, hypertrophic, 16CMH16hypertrophic cardiomyopathy caused by mutation in MYOZ2hypertrophic cardiomyopathy type 16MYOZ2 hypertrophic cardiomyopathy