Details of Disease

General Information of Disease (ID: DISYYOQH)

• Disease Name: Autosomal dominant nonsyndromic hearing loss 17
• Synonyms: late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration; cochleosaccular degeneration; autosomal dominant nonsyndromic deafness type 17; deafness, autosomal dominant 17; autosomal dominant nonsyndromic deafness 17; deafness, autosomal dominant nonsyndromic sensorineural 17; autosomal dominant deafness 17; DFNA17; nonsyndromic hereditary deafness DFNA17; MYH9 autosomal dominant nonsyndromic deafness; autosomal dominant nonsyndromic deafness caused by mutation in MYH9; deafness, autosomal dominant type 17
• Definition: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH9 gene.
• Disease Hierarchy:
  DISYC1G0: Autosomal dominant nonsyndromic hearing loss
  DISYYOQH: Autosomal dominant nonsyndromic hearing loss 17
• Disease Identifiers:
  MONDO ID: MONDO_0011350
  MESH ID: C535507
  UMLS CUI: C1863659
  OMIM ID: 603622
  MedGen ID: 350942

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
MYH9	OT94Z706	Strong	Autosomal dominant	[1]

References

• [1] Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. Am J Hum Genet. 2000 Nov;67(5):1121-8. doi: 10.1016/S0002-9297(07)62942-5. Epub 2000 Oct 9.