Details of Disease

General Information of Disease (ID: DISQU2W3)

• Disease Name: Autosomal recessive nonsyndromic hearing loss 12
• Synonyms: DFNB12; deafness, autosomal recessive 12, modifier of; autosomal recessive nonsyndromic deafness type 12; autosomal recessive nonsyndromic deafness 12; deafness, autosomal recessive type 12; deafness, autosomal recessive 12; autosomal recessive deafness 12; autosomal recessive nonsyndromic hearing loss 12
• Definition: An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22.
• Disease Hierarchy:
  DIS8G9R9: Hearing loss, autosomal recessive
  DISQU2W3: Autosomal recessive nonsyndromic hearing loss 12
• Disease Identifiers:
  MONDO ID: MONDO_0011067
  MESH ID: C563327
  UMLS CUI: C1832394
  OMIM ID: 601386
  MedGen ID: 330455

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATP2B2	OT1NPZ9T	Strong	Autosomal dominant	[1]
CDH23	OTOJGQ7S	Definitive	Autosomal recessive	[2]

References

• [1] De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment. Hum Genet. 2019 Jan;138(1):61-72. doi: 10.1007/s00439-018-1965-1. Epub 2018 Dec 8.
• [2] Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet. 2001 Jan;68(1):26-37. doi: 10.1086/316954. Epub 2000 Nov 21.