hypertrophic cardiomyopathy 10
Findings
No curated finding names hypertrophic cardiomyopathy 10 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 MYL2 gene.
Definition from the Mondo Disease Ontology (MONDO:0012112), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- 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.
- Hypertrophic cardiomyopathyHPOHP:0001639
- 4 of 4 reported patients
- Left ventricular hypertrophyHPOHP:0001712
- 13 of 16 reported patients
- T-wave inversionHPOHP:0010872
- 14 of 22 reported patients
- Systolic anterior motion of the mitral valveHPOHP:0031656
- 8 of 16 reported patients
- Asymmetric septal hypertrophyHPOHP:0001670
- 2 of 7 reported patients
- Sudden cardiac deathHPOHP:0001645
- 2 of 7 reported patients
- Chest painHPO
Show the remaining 3
- Ventricular septal hypertrophyHPOHP:0005144
- Ventricular tachycardiaHPOHP:0004756
- VertigoHPOHP:0002321
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.
- MYL2HGNC:7583
- Definitive · G2P · Autosomal dominant · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
7 names
Resolves to: hypertrophic cardiomyopathy 10
- Also called
- cardiomyopathy, familial hypertrophic, 10cardiomyopathy, familial hypertrophic, type 10cardiomyopathy, hypertrophic, 10CMH10hypertrophic cardiomyopathy caused by mutation in MYL2hypertrophic cardiomyopathy type 10MYL2 hypertrophic cardiomyopathy