Details of Disease

General Information of Disease (ID: DIS5WCEY)

• Disease Name: Autosomal recessive nonsyndromic hearing loss 48
• Synonyms: autosomal recessive nonsyndromic deafness caused by mutation in CIB2; deafness, autosomal recessive 48; autosomal recessive deafness 48; DFNB48; autosomal recessive nonsyndromic deafness type 48; CIB2 autosomal recessive nonsyndromic deafness; deafness, autosomal recessive type 48; autosomal recessive nonsyndromic deafness 48; autosomal recessive nonsyndromic hearing loss 48
• Definition: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CIB2 gene.
• Disease Hierarchy:
  DIS8G9R9: Hearing loss, autosomal recessive
  DIS5WCEY: Autosomal recessive nonsyndromic hearing loss 48
• Disease Identifiers:
  MONDO ID: MONDO_0012273
  MESH ID: C563720
  UMLS CUI: C1836199
  OMIM ID: 609439
  MedGen ID: 332149

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
CIB2	OT9ZJX1I	Definitive	Autosomal recessive	[1]

References

• [1] Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. Nat Genet. 2012 Nov;44(11):1265-71. doi: 10.1038/ng.2426. Epub 2012 Sep 30.