dilated cardiomyopathy 1J
Findings
No curated finding names dilated cardiomyopathy 1J yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0011541), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal cardiac ventricular functionHPOHP:0030872
- Very frequent (80% to 99% of cases)
- Congestive heart failureHPOHP:0001635
- Very frequent (80% to 99% of cases)
- Dilated cardiomyopathyHPOHP:0001644
- Adult onset
- Very frequent (80% to 99% of cases)
- Hearing impairmentHPOHP:0000365
- Very frequent (80% to 99% of cases)
- Recurrent otitis mediaHPOHP:0000403
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Juvenile onset
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- EYA4HGNC:3522
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · ClinGen · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
9 names
Resolves to: dilated cardiomyopathy 1J
- Also called
- cardiomyopathy, dilated, type 1JCMD1Jdilated cardiomyopathy type 1JEYA4 familial dilated cardiomyopathyfamilial dilated cardiomyopathy caused by mutation in EYA4neurosensory deafness with dilated cardiomyopathyneurosensory hearing loss with dilated cardiomyopathysensorineural deafness with dilated cardiomyopathysensorineural hearing loss with dilated cardiomyopathy