hypertrophic cardiomyopathy 12
Findings
No curated finding names hypertrophic cardiomyopathy 12 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 CSRP3 gene.
Definition from the Mondo Disease Ontology (MONDO:0012804), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
6 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
- Reduced left ventricular endsystolic diameterHPOHP:0034386
- 5 of 8 reported patients
- Ventricular septal hypertrophyHPOHP:0005144
- 5 of 8 reported patients
- Sudden cardiac deathHPOHP:0001645
- 2 of 8 reported patients
- Ventricular tachycardiaHPOHP:0004756
- 2 of 8 reported patients
- Paroxysmal atrial fibrillationHPOHP:0004757
- 1 of 8 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.
- CSRP3HGNC:2472
- Definitive · G2P · Autosomal dominant · 2025
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of
Other names
6 names
Resolves to: hypertrophic cardiomyopathy 12
- Also called
- cardiomyopathy, familial hypertrophic, type 12cardiomyopathy, hypertrophic, 12CMH12CSRP3 hypertrophic cardiomyopathyhypertrophic cardiomyopathy caused by mutation in CSRP3hypertrophic cardiomyopathy type 12