hypertrophic cardiomyopathy 18
Findings
No curated finding names hypertrophic cardiomyopathy 18 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 PLN gene.
Definition from the Mondo Disease Ontology (MONDO:0013475), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset
HPO, annotations 2026-09-02
Features
3 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
- 1 of 1 reported patient
- Left ventricular hypertrophyHPOHP:0001712
- 1 of 1 reported patient
- Paroxysmal atrial fibrillationHPOHP:0004757
- 1 of 1 reported patient
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.
- PLNHGNC:9080
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of
Other names
6 names
Resolves to: hypertrophic cardiomyopathy 18
- Also called
- cardiomyopathy, familial hypertrophic, type 18cardiomyopathy, hypertrophic, 18CMH18hypertrophic cardiomyopathy caused by mutation in PLNhypertrophic cardiomyopathy type 18PLN hypertrophic cardiomyopathy