Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

cardiomyopathy, dilated, 2F (CMD2F) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cardiomyopathy, dilated, 2F

MONDO:0030680

Also known as:CMD2F

Overview

A dilated cardiomyopathy that is characterized by refractory ventricular arrhythmias and severe heart failure and that has material basis in homozygous mutation in the BAG5 gene on chromosome 14q32.

GeneticsAutosomal recessive · BAG5 (chr 14)

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 and Enlarged and weakened heart (dilated cardiomyopathy). 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	6	Ventricular fibrillation, Congestive heart failure, Increased left ventricular end-diastolic volume

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.

BAG5 encodes BAG cochaperone 5 (447 aa). Co-chaperone for HSP/HSP70 proteins. It functions as a nucleotide-exchange factor promoting the release of ADP from HSP70, thereby activating HSP70-mediated protein refolding. Highest expression in Testis (125.2 TPM) and Brain Cerebellar Hemisphere (35.9 TPM).

Cardiomyopathy, dilated, 2F has been associated with mutations in the BAG5 gene on chromosome 14.

BAG5 is classified as a druggable target (Kinase category) with score 0.0.

Diagnosis

Genetic testing for BAG5 is available. Testing is considered supportive for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features.

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619747

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

cardiomyopathy, dilated, 2F

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features