Details of Disease

General Information of Disease (ID: DISJPU4M)

• Disease Name: Autosomal dominant nonsyndromic hearing loss 15
• Synonyms: POU4F3 autosomal dominant nonsyndromic deafness; autosomal dominant nonsyndromic deafness caused by mutation in POU4F3; autosomal dominant nonsyndromic deafness type 15; autosomal dominant deafness 15; autosomal dominant nonsyndromic deafness 15; deafness, autosomal dominant 15; deafness, autosomal dominant type 15; DFNA15
• Definition: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the POU4F3 gene.
• Disease Hierarchy:
  DISYC1G0: Autosomal dominant nonsyndromic hearing loss
  DISJPU4M: Autosomal dominant nonsyndromic hearing loss 15
• Disease Identifiers:
  MONDO ID: MONDO_0011226
  MESH ID: C566545
  UMLS CUI: C1865366
  OMIM ID: 602459
  MedGen ID: 355451

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
POU4F3	OTILD0XS	Strong	Autosomal dominant	[1]

References

• [1] Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding. Hum Mutat. 2008 Apr;29(4):545-54. doi: 10.1002/humu.20693.