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cardiomyopathy, dilated, 2c (CMD2C) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cardiomyopathy, dilated, 2c

MONDO:0032592

Also known as:CMD2C

Overview

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.

GeneticsAutosomal recessive · PPCS (chr 1)

ResearchLimited published research (3 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Enlarged and weakened heart (dilated cardiomyopathy); and common findings: Low muscle tone (hypotonia) and Increased circulating lactate concentration. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	3	High blood pressure in lung arteries (pulmonary arterial hypertension), Reduced left ventricular ejection fraction, Enlarged and weakened heart (dilated cardiomyopathy)

Genetic Landscape

PPCS function has not been fully characterized.

Cardiomyopathy, dilated, 2c is associated with mutations in the PPCS gene on chromosome 1.

Diagnosis

Genetic testing for PPCS is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 2 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for cardiomyopathy, dilated, 2c.

3 publications have been identified in PubMed for cardiomyopathy, dilated, 2c. Research spans Basic Science / Preclinical (100%).

Recent Publications

Zhang F (2025). [PMID: 40745475](https://pubmed.ncbi.nlm.nih.gov/40745475/). *Commun Med (Lond)*. [Basic Science / Preclinical]
Myers JM (2025). [PMID: 40181955](https://pubmed.ncbi.nlm.nih.gov/40181955/). *Front Immunol*. [Basic Science / Preclinical]
Nordlie SM (2025). [PMID: 41279021](https://pubmed.ncbi.nlm.nih.gov/41279021/). *bioRxiv*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:11 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618189

GARD

Genetic and Rare Diseases Info Center

GARD:16305

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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cardiomyopathy, dilated, 2c

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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