dilated cardiomyopathy 1P
Findings
No curated finding names dilated cardiomyopathy 1P yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PLN gene.
Definition from the Mondo Disease Ontology (MONDO:0012362), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Young adult onset
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.
- Dilated cardiomyopathyHPOHP:0001644
- 20 of 20 reported patients
- Congestive heart failureHPOHP:0001635
- 12 of 20 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.
- PLNHGNC:9080
- Definitive · G2P · Autosomal dominant · 2024
- Strong · Ambry Genetics · Autosomal dominant · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
Other names
6 names
Resolves to: dilated cardiomyopathy 1P
- Also called
- cardiomyopathy, dilated, 1Pcardiomyopathy, dilated, type 1PCMD1Pdilated cardiomyopathy type 1Pfamilial isolated dilated cardiomyopathy caused by mutation in PLNPLN familial isolated dilated cardiomyopathy