hypertrophic cardiomyopathy 3
Findings
No curated finding names hypertrophic cardiomyopathy 3 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 TPM1 gene.
Definition from the Mondo Disease Ontology (MONDO:0007267), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
2 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.
- Sudden cardiac deathHPOHP:0001645
- 13 of 26 reported patients
- Hypertrophic cardiomyopathyHPOHP:0001639
Genes
2 genes
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.
Where it sits
- A kind of
Other names
6 names
Resolves to: hypertrophic cardiomyopathy 3
- Also called
- cardiomyopathy, familial hypertrophic, type 3cardiomyopathy, hypertrophic, 3CMH3hypertrophic cardiomyopathy caused by mutation in TPM1hypertrophic cardiomyopathy type 3TPM1 hypertrophic cardiomyopathy