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dilated cardiomyopathy 1W (CMD1W) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dilated cardiomyopathy 1W

MONDO:0012667

Also known as:CMD1WVCL familial isolated dilated cardiomyopathycardiomyopathy, dilated, type 1W

Overview

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

GeneticsAutosomal dominant · VCL (chr 10)

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: Increased left ventricular end-diastolic volume and Enlarged and weakened heart (dilated cardiomyopathy); and common findings: Reduced left ventricular ejection fraction.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	3	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Enlarged and weakened heart (dilated cardiomyopathy)

Genetic Landscape

VCL function has not been fully characterized.

Dilated cardiomyopathy 1W is strongly associated with mutations in the VCL gene on chromosome 10.

Diagnosis

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

Prognosis

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

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 7:14 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611407

GARD

Genetic and Rare Diseases Info Center

GARD:15515

Questions for Your Care Team

→Should I pursue genetic testing for VCL, 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 1W

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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