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dilated cardiomyopathy 1P (CMD1P) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dilated cardiomyopathy 1P

MONDO:0012362

Also known as:CMD1PPLN familial isolated dilated cardiomyopathycardiomyopathy, dilated, 1P

Overview

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PLN gene.

GeneticsAutosomal dominant · PLN (chr 6)

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: Congestive heart failure. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	4	Congestive heart failure, Reduced systolic function, Ventricular arrhythmia

Explore clinical features

Genetic Landscape

PLN function has not been fully characterized.

Dilated cardiomyopathy 1P is associated with mutations in the PLN gene on chromosome 6.

Diagnosis

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

Biomarker and diagnostic research for dilated cardiomyopathy 1P has been reported in the published literature.

Prognosis

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

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 dilated cardiomyopathy 1P.

27 publications have been identified in PubMed for dilated cardiomyopathy 1P. Research spans Diagnostic / Biomarker (41%), Clinical Trial Publication (19%), and Case Report / Case Series (11%).

Research Type	Count	% of Total
Testing and diagnosis research	11	41%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:06 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609909

GARD

Genetic and Rare Diseases Info Center

GARD:15469

Questions for Your Care Team

→Should I pursue genetic testing for PLN, and what would the results mean for my family?
→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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dilated cardiomyopathy 1P

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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