Details of Disease

General Information of Disease (ID: DISBLMJP)

• Disease Name: Autosomal dominant nonsyndromic hearing loss 6
• Synonyms: DFNA6; deafness, autosomal dominant type 6; DFNA38; autosomal dominant nonsyndromic deafness caused by mutation in WFS1; deafness, autosomal dominant 14; deafness, autosomal dominant 6; autosomal dominant deafness 6; autosomal dominant deafness 14; autosomal dominant deafness 38; deafness, autosomal dominant 6/14/38; autosomal dominant nonsyndromic deafness type 6; deafness, autosomal dominant 38; WFS1 autosomal dominant nonsyndromic deafness; autosomal dominant nonsyndromic deafness 6; DFNA14
• Definition: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the WFS1 gene.
• Disease Hierarchy:
  DISYC1G0: Autosomal dominant nonsyndromic hearing loss
  DISBLMJP: Autosomal dominant nonsyndromic hearing loss 6
• Disease Identifiers:
  MONDO ID: MONDO_0010963
  MESH ID: C563421
  UMLS CUI: C1833021
  OMIM ID: 600965
  MedGen ID: 331419

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
WFS1	OTYF2UYI	Strong	Autosomal dominant	[1]

References

• [1] Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. Hum Mol Genet. 2001 Oct 15;10(22):2501-8. doi: 10.1093/hmg/10.22.2501.