Sensorineural deafness with dilated cardiomyopathy

General Information (adopted from Orphanet):

Synonyms, Signs: CMD1J
Sensorineural hearing loss with dilated cardiomyopathy
Neurosensory deafness with dilated cardiomyopathy
Neurosensory hearing loss with dilated cardiomyopathy
Cardiomyopathy, dilated, with sensorineural hearing loss, autosomal dominant
Number of Symptoms 5
OrphanetNr: 217622
OMIM Id: 605362
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 families - PMID: 10769282 [IBIS]
Inheritance: Monogenic
Autosomal dominant
- PMID: 10769282 [IBIS]
Age of onset: Childhood
Adult
- PMID: 10769282 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndrome associated with dilated cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease

Comment:

Sensorineural deafness with dilated cardiomyopathy is caused bu mutation in EYA4 (PMID:15735644).

Symptom Information: Sort by abundance 

1
 (HPO:0000407) Sensorineural hearing impairment 10769282 IBIS 524 / 7739
2
 (HPO:0001645) Sudden cardiac death 10769282 IBIS 84 / 7739
3
 (HPO:0001635) Congestive heart failure 10769282 IBIS 232 / 7739
4
 (HPO:0001644) Dilated cardiomyopathy 10769282 IBIS 141 / 7739
5
 (OMIM) Left ventricular dilation 10769282 IBIS 13 / 7739

Associated genes:

EYA4;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Schonberger et al. (2000) described 2 kindreds with autosomal dominant transmission and age-related penetrance of both sensorineural hearing loss and dilated cardiomyopathy (DCM) in the absence of other disorders. Moderate to severe hearing loss was evident by late ...
Molecular genetics OMIM In a large kindred with dilated cardiomyopathy and hearing loss linked to chromosome 6q23-q24, Schonberger et al. (2000) analyzed the candidate gene epicardin (603306), which encodes a transcription factor expressed in the myocardium and cochlea, but no mutations ...