Details of Disease

General Information of Disease (ID: DIS8DMZP)

• Disease Name: Autosomal recessive nonsyndromic hearing loss 3
• Synonyms: MYO15A autosomal recessive nonsyndromic deafness; DFNB3; autosomal recessive nonsyndromic deafness type 3; deafness, autosomal recessive type 3; NRSD3; deafness, autosomal recessive 3; autosomal recessive nonsyndromic deafness caused by mutation in MYO15A; autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3; autosomal recessive nonsyndromic deafness 3; neurosensory nonsyndromic recessive deafness 3; autosomal recessive nonsyndromic hearing loss 3
• Definition: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO15A gene.
• Disease Hierarchy:
  DIS8G9R9: Hearing loss, autosomal recessive
  DIS8DMZP: Autosomal recessive nonsyndromic hearing loss 3
• Disease Identifiers:
  MONDO ID: MONDO_0010860
  MESH ID: C563961
  UMLS CUI: C1838263
  OMIM ID: 600316
  MedGen ID: 325373

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
MYO15A	OTVR4DV8	Strong	Autosomal recessive	[1]

References

• [1] Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness. Hum Mutat. 2016 Oct;37(10):991-1003. doi: 10.1002/humu.23042. Epub 2016 Aug 21.