Details of Disease

General Information of Disease (ID: DISMDTYM)

• Disease Name: Autosomal recessive nonsyndromic hearing loss 15
• Synonyms: deafness, autosomal recessive type 15; DFNB95; autosomal recessive nonsyndromic deafness 15; DFNB15; deafness, autosomal recessive 72; DFNB72; deafness, autosomal recessive 95; GIPC3 autosomal recessive nonsyndromic deafness; autosomal recessive deafness 15; autosomal recessive nonsyndromic deafness type 15; autosomal recessive deafness 95; autosomal recessive deafness 72; deafness, autosomal recessive 15; autosomal recessive nonsyndromic deafness caused by mutation in GIPC3; autosomal recessive nonsyndromic hearing loss 15
• Definition: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GIPC3 gene.
• Disease Hierarchy:
  DIS8G9R9: Hearing loss, autosomal recessive
  DISMDTYM: Autosomal recessive nonsyndromic hearing loss 15
• Disease Identifiers:
  MONDO ID: MONDO_0011160
  MESH ID: C566611
  UMLS CUI: C1866094
  OMIM ID: 601869
  MedGen ID: 355626

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
GIPC3	OT8U28XD	Strong	Autosomal recessive	[1]

References

• [1] Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human. Nat Commun. 2011 Feb 15;2:201. doi: 10.1038/ncomms1200.