cardiomyopathy, dilated, 2c
Findings
No curated finding names cardiomyopathy, dilated, 2c yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A dilated cardiomyopathy that is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years and that has material basis in homozygous or compound heterozygous mutation in the PPCS gene on chromosome 1p34.
Definition from the Mondo Disease Ontology (MONDO:0032592), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Infantile onset · Neonatal onset · Death in childhood · Childhood onset
HPO, annotations 2026-09-02
Features
5 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
- 5 of 5 reported patients
- Increased circulating lactate concentrationHPOHP:0002151
- 3 of 5 reported patients
- HypotoniaHPOHP:0001252
- 1 of 3 reported patients
- Pulmonary arterial hypertensionHPOHP:0002092
- 1 of 5 reported patients
- Reduced left ventricular ejection fractionHPOHP:0012664
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.
- PPCSHGNC:25686
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018