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dilated cardiomyopathy 1I (CMD1I) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dilated cardiomyopathy 1I

MONDO:0011482

Also known as:CMD1IDES familial isolated dilated cardiomyopathycardiomyopathy, dilated, type 1I

Overview

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

GeneticsAutosomal dominant · DES (chr 2)

ResearchLimited published research (5 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 common findings: Enlarged heart (cardiomegaly), Reduced systolic function, Congestive heart failure, and Reduced left ventricular ejection fraction and others. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	5	Enlarged heart (cardiomegaly), Reduced systolic function, Congestive heart failure

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.

DES encodes desmin (470 aa). Muscle-specific type III intermediate filament essential for proper muscular structure and function. Highest expression in Esophagus Muscularis (14,058 TPM) and Colon Sigmoid (13,011 TPM).

Dilated cardiomyopathy 1I is caused by mutations in the DES gene on chromosome 2.

The DES protein participates in Des-acyl Ghrelin, Preproghrelin and prepro-des-Gln14-ghrelin, and Proghrelin and Pro-des-Gln14-ghrelin pathways.

DES is classified as a druggable target with score 17.4.

Diagnosis

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

Prognosis

Phenotype severity distribution: 5 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 1I.

5 publications have been identified in PubMed for dilated cardiomyopathy 1I. Research spans Case Report / Case Series (60%), Review / Meta-Analysis (20%), and Epidemiology / Natural History (20%).

Recent Publications

Gu Y (2025). [PMID: 41398879](https://pubmed.ncbi.nlm.nih.gov/41398879/). *Medicine*. [Case Report / Case Series]
Fernández-Eulate G (2025). [PMID: 40493734](https://pubmed.ncbi.nlm.nih.gov/40493734/). *Brain : a journal of neurology*. [Epidemiology / Natural History]
Wang L (2025). [PMID: 40529556](https://pubmed.ncbi.nlm.nih.gov/40529556/). *Frontiers in cardiovascular medicine*. [Case Report / Case Series]
Geng L (2024). [PMID: 39501717](https://pubmed.ncbi.nlm.nih.gov/39501717/). *The Journal of international medical research*. [Case Report / Case Series]
Politano L (2024). [PMID: 38791328](https://pubmed.ncbi.nlm.nih.gov/38791328/). *International journal of molecular sciences*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:12 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:604765

GARD

Genetic and Rare Diseases Info Center

GARD:15372

Questions for Your Care Team

→Should I pursue genetic testing for DES, 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 1I

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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