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dilated cardiomyopathy 1L (CMD1L) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dilated cardiomyopathy 1L

MONDO:0011702

Also known as:CMD1LSGCD familial isolated dilated cardiomyopathycardiomyopathy, dilated, type 1L

Overview

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

GeneticsAutosomal dominant · SGCD (chr 5)

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 always present findings: Congestive heart failure, Reduced left ventricular ejection fraction, and Increased left ventricular end-diastolic volume; and common findings: Sudden cardiac death. 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	6	Congestive heart failure, Reduced systolic function, Reduced left ventricular ejection fraction

Genetic Landscape

SGCD function has not been fully characterized.

Dilated cardiomyopathy 1L has limited evidence linking it to mutations in the SGCD gene on chromosome 5.

Diagnosis

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

Prognosis

Phenotype severity distribution: 3 always present features, 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 1L.

1 publication has been identified in PubMed for dilated cardiomyopathy 1L. Research spans Basic Science / Preclinical (100%).

Recent Publications

Seaborne RAE (2025). [PMID: 40320980](https://pubmed.ncbi.nlm.nih.gov/40320980/). *J Physiol*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:08 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:606685

GARD

Genetic and Rare Diseases Info Center

GARD:15397

Questions for Your Care Team

→Should I pursue genetic testing for SGCD, 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 1L

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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