hypertrophic cardiomyopathy 8
Findings
No curated finding names hypertrophic cardiomyopathy 8 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 MYL3 gene.
Definition from the Mondo Disease Ontology (MONDO:0012111), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
7 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
- 13 of 13 reported patients
- Left ventricular hypertrophyHPOHP:0001712
- 3 of 3 reported patients
- T-wave inversionHPOHP:0010872
- 1 of 1 reported patient
- Left atrial enlargementHPOHP:0031295
- 1 of 2 reported patients
- Reduced left ventricular ejection fractionHPOHP:0012664
- 0 of 1 reported patient
- Endocardial fibrosisHPOHP:0006685
- Restrictive cardiomyopathyHPOHP:0001723
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.
- MYL3HGNC:7584
- Definitive · G2P · Autosomal dominant · 2022
- Strong · Ambry Genetics · Semidominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
- A kind of
Other names
6 names
Resolves to: hypertrophic cardiomyopathy 8
- Also called
- cardiomyopathy, familial hypertrophic, 8cardiomyopathy, familial hypertrophic, type 8cardiomyopathy, hypertrophic, 8hypertrophic cardiomyopathy caused by mutation in MYL3hypertrophic cardiomyopathy type 8MYL3 hypertrophic cardiomyopathy