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dilated cardiomyopathy 1J (CMD1J) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dilated cardiomyopathy 1J

MONDO:0011541

Also known as:CMD1JEYA4 familial dilated cardiomyopathyautosomal dominant dilated cardiomyopathy with sensorineural hearing loss

Overview

An extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.

GeneticsAutosomal dominant · EYA4 (chr 6)

OnsetJUVENILE, ADULT

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: Hearing loss (hearing impairment), Abnormal cardiac ventricular function, and Recurrent otitis media. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	5	Congestive heart failure, Abnormal left ventricular function, Sudden cardiac death

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.

EYA4 encodes EYA transcriptional coactivator and phosphatase 4 (639 aa). Tyrosine phosphatase that specifically dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph). Highest expression in Muscle Skeletal (16.8 TPM) and Prostate (5.9 TPM).

Dilated cardiomyopathy 1J has limited evidence linking it to mutations in the EYA4 gene on chromosome 6.

EYA4 is classified as a druggable target (Dna Repair and Enzyme categories) with score 2.5.

Diagnosis

Genetic testing for EYA4 is available. Testing is considered research-grade for diagnosis.

Prognosis

Phenotype severity distribution: 3 very common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 3:29 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:605362

Orphanet

European rare disease database

Orphanet:217622

GARD

Genetic and Rare Diseases Info Center

GARD:17128

Questions for Your Care Team

→Should I pursue genetic testing for EYA4, 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 1J

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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