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

Rare Disease

dilated cardiomyopathy 1BB

MONDO:0013030

Also known as:CMD1BBDSG2 familial isolated dilated cardiomyopathycardiomyopathy, dilated, type 1Bb

Overview

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene.

GeneticsAutosomal recessive · DSG2 (chr 18)

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: Dyspnea, Congestive heart failure, Left bundle branch block, and Increased left ventricular end-diastolic volume and others.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	5	Congestive heart failure, Left bundle branch block, 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.

DSG2 encodes desmoglein 2 (1,118 aa). A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion. Highest expression in Minor Salivary Gland (42.9 TPM) and Colon Transverse (37.5 TPM).

Dilated cardiomyopathy 1BB has limited evidence linking it to mutations in the DSG2 gene on chromosome 18.

DSG2 is classified as a druggable target (Cell Surface category) with score 0.0.

Diagnosis

Genetic testing for DSG2 is available. Testing is considered research-grade for diagnosis.

Prognosis

Phenotype severity distribution: 6 always present features.

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612877

GARD

Genetic and Rare Diseases Info Center

GARD:15588

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?

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dilated cardiomyopathy 1BB

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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