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dilated cardiomyopathy 2B (CMD2B) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dilated cardiomyopathy 2B

MONDO:0013848

Also known as:CMD2BGATAD1 familial isolated dilated cardiomyopathycardiomyopathy, dilated, type 2B

Overview

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the GATAD1 gene.

GeneticsAutosomal recessive · GATAD1 (chr 7)

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 always present findings: Congestive heart failure, Reduced left ventricular ejection fraction, and Enlarged and weakened heart (dilated cardiomyopathy); and common findings: Atrial fibrillation.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	4	Atrial fibrillation, Congestive heart failure, Reduced left ventricular ejection fraction

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.

GATAD1 encodes GATA zinc finger domain containing 1 (269 aa). Component of some chromatin complex recruited to chromatin sites methylated 'Lys-4' of histone H3 (H3K4me), with a preference for trimethylated form (H3K4me3) Highest expression in Ovary (88.5 TPM) and Cervix Endocervix (82.8 TPM).

Dilated cardiomyopathy 2B has limited evidence linking it to mutations in the GATAD1 gene on chromosome 7.

GATAD1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for GATAD1 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 2B.

5 publications have been identified in PubMed for dilated cardiomyopathy 2B. Research spans Basic Science / Preclinical (60%) and Review / Meta-Analysis (40%).

Recent Publications

Bernardini C (2026). [PMID: 41531392](https://pubmed.ncbi.nlm.nih.gov/41531392/). *Chembiochem*. [Review / Meta-Analysis]
Richards M (2026). [PMID: 41913263](https://pubmed.ncbi.nlm.nih.gov/41913263/). *Cardiol Rev*. [Review / Meta-Analysis]
Shen J (2025). [PMID: 40948388](https://pubmed.ncbi.nlm.nih.gov/40948388/). *Adv Sci (Weinh)*. [Basic Science / Preclinical]
Xu JJ (2025). [PMID: 40596072](https://pubmed.ncbi.nlm.nih.gov/40596072/). *Sci Rep*. [Basic Science / Preclinical]
Lorenzana-Carrillo MA (2024). [PMID: 38860363](https://pubmed.ncbi.nlm.nih.gov/38860363/). *Circ Res*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614672

GARD

Genetic and Rare Diseases Info Center

GARD:15832

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 2B

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

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