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dilated cardiomyopathy 1C (CMDC1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dilated cardiomyopathy 1C

MONDO:0011094

Also known as:CMDC1cardiomyopathy, dilated, 1C, with or without LVNCcardiomyopathy, hypertrophic, 24

Overview

A dilated cardiomyopathy that has material basis in mutation in the LDB3 gene on chromosome 10q23.2.

GeneticsAutosomal dominant · LDB3 (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: Enlarged and weakened heart (dilated cardiomyopathy); and common findings: Thickened left heart wall (left ventricular hypertrophy) and Increased left ventricular end-diastolic volume. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	9	Left ventricular noncompaction, Congestive heart failure, Thickened left heart wall (left ventricular hypertrophy)

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

LDB3 encodes LIM domain binding 3 (727 aa). May function as an adapter in striated muscle to couple protein kinase C-mediated signaling via its LIM domains to the cytoskeleton Highest expression in Heart Left Ventricle (372.3 TPM) and Muscle Skeletal (338.8 TPM).

Dilated cardiomyopathy 1C has limited evidence linking it to mutations in the LDB3 gene on chromosome 10.

LDB3 is classified as a druggable target (Kinase category) with score 0.0.

Diagnosis

Genetic testing for LDB3 is available. Testing is considered research-grade for diagnosis.

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

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 dilated cardiomyopathy 1C.

249 publications have been identified in PubMed for dilated cardiomyopathy 1C. Research spans Basic Science / Preclinical (24%), Epidemiology / Natural History (19%), and Clinical Trial Publication (16%).

Research Type	Count	% of Total
Laboratory research	57	24%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 8:06 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601493

GARD

Genetic and Rare Diseases Info Center

GARD:15331

Questions for Your Care Team

→Should I pursue genetic testing for LDB3, 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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Kisho

dilated cardiomyopathy 1C

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

dilated cardiomyopathy 1C

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications