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dilated cardiomyopathy 1HH - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dilated cardiomyopathy 1HH

MONDO:0013479

Also known as:BAG3 familial isolated dilated cardiomyopathyCMD1HHcardiomyopathy, dilated, type 1Hh

Overview

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the BAG3 gene.

GeneticsAutosomal dominant · BAG3 (chr 10)

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

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

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.

BAG3 encodes BAG cochaperone 3 (575 aa). Co-chaperone and adapter protein that connects different classes of molecular chaperones including heat shock proteins 70 (HSP70s), e.g. Highest expression in Muscle Skeletal (370.4 TPM) and Artery Aorta (139.2 TPM).

Dilated cardiomyopathy 1HH is caused by mutations in the BAG3 gene on chromosome 10.

The BAG3 protein participates in CREB3L4 translocates from the cytosol to the nucleus pathway.

BAG3 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for BAG3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 very common 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 1HH.

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

Recent Publications

Fernández-Eulate G (2025). [PMID: 40493734](https://pubmed.ncbi.nlm.nih.gov/40493734/). *Brain*. [Epidemiology / Natural History]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 1:03 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613881

GARD

Genetic and Rare Diseases Info Center

GARD:15726

Questions for Your Care Team

→Should I pursue genetic testing for BAG3, 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 1HH

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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