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dilated cardiomyopathy 1Y (CMD1Y) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dilated cardiomyopathy 1Y

MONDO:0012744

Also known as:CMD1YTPM1 familial isolated dilated cardiomyopathycardiomyopathy, dilated, type 1Y

Overview

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene.

GeneticsAutosomal dominant · TPM1 (chr 15)

ResearchLimited published research (1 article)

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 very common findings: Left ventricular noncompaction cardiomyopathy; and common findings: Increased left ventricular end-diastolic volume, Ebstein anomaly of the tricuspid valve, Congestive heart failure, and Enlarged and weakened heart (dilated cardiomyopathy). 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	7	Atrial fibrillation, Left ventricular noncompaction cardiomyopathy, Increased left ventricular end-diastolic volume

Genetic Landscape

TPM1 function has not been fully characterized.

Dilated cardiomyopathy 1Y has been associated with mutations in the TPM1 gene on chromosome 15.

Diagnosis

Genetic testing for TPM1 is available. Testing is considered supportive for diagnosis.

Prognosis

Phenotype severity distribution: 1 very common feature, 4 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 dilated cardiomyopathy 1Y.

1 publication has been identified in PubMed for dilated cardiomyopathy 1Y. Research spans Epidemiology / Natural History (100%).

Recent Publications

Boen HM (2024). [PMID: 38689299](https://pubmed.ncbi.nlm.nih.gov/38689299/). *Cardiooncology*. [Epidemiology / Natural History]

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 5:18 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611878

GARD

Genetic and Rare Diseases Info Center

GARD:15530

Questions for Your Care Team

→Should I pursue genetic testing for TPM1, 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 1Y

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

Questions for Your Care Team

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