Details of Disease

General Information of Disease (ID: DISCMLYF)

• Disease Name: Autosomal dominant nonsyndromic hearing loss 23
• Synonyms: DFNA23; autosomal dominant nonsyndromic deafness 23; SIX1 autosomal dominant nonsyndromic deafness; DFNA 23; deafness, autosomal dominant type 23; deafness, autosomal dominant nonsyndromic sensorineural 23; autosomal dominant nonsyndromic deafness type 23; autosomal dominant deafness 23; autosomal dominant nonsyndromic deafness caused by mutation in SIX1; deafness, autosomal dominant 23
• Definition: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SIX1 gene.
• Disease Hierarchy:
  DISYC1G0: Autosomal dominant nonsyndromic hearing loss
  DISCMLYF: Autosomal dominant nonsyndromic hearing loss 23
• Disease Identifiers:
  MONDO ID: MONDO_0011519
  MESH ID: C565357
  UMLS CUI: C1854594
  OMIM ID: 605192
  MedGen ID: 343162

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
SIX1	OT70YYWM	Definitive	Autosomal dominant	[1]

References

• [1] A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred. Am J Hum Genet. 2000 Jun;66(6):1984-8. doi: 10.1086/302931. Epub 2000 Apr 24.