Details of Disease

General Information of Disease (ID: DIS953V6)

• Disease Name: Dilated cardiomyopathy 1J
• Synonyms: cardiomyopathy, dilated, with sensorineural hearing loss, autosomal dominant; cardiomyopathy, dilated, 1J; familial dilated cardiomyopathy caused by mutation in EYA4; sensorineural hearing loss with dilated cardiomyopathy; neurosensory hearing loss with dilated cardiomyopathy; dilated cardiomyopathy type 1J; dilated cardiomyopathy 1J; sensorineural deafness with dilated cardiomyopathy; neurosensory deafness with dilated cardiomyopathy; autosomal dominant dilated cardiomyopathy with sensorineural hearing loss; CMD1J; cardiomyopathy, dilated, type 1J; EYA4 familial dilated cardiomyopathy
• 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.
• Disease Hierarchy:
  DISBHDU9: Familial dilated cardiomyopathy
  DIS953V6: Dilated cardiomyopathy 1J
• Disease Identifiers:
  MONDO ID: MONDO_0011541
  MESH ID: C565337
  UMLS CUI: C1854368
  OMIM ID: 605362
  MedGen ID: 343105
  Orphanet ID: 217622

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EYA4	OTINGR3Z	Supportive	Autosomal dominant	[1]

References

• [1] Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss. Nat Genet. 2005 Apr;37(4):418-22. doi: 10.1038/ng1527. Epub 2005 Feb 27.