Details of Disease

General Information of Disease (ID: DISOKCVA)

• Disease Name: Autosomal recessive nonsyndromic hearing loss 25
• Synonyms: autosomal recessive nonsyndromic deafness 25; autosomal recessive nonsyndromic deafness type 25; DFNB25; autosomal recessive nonsyndromic deafness caused by mutation in GRXCR1; deafness, autosomal recessive type 25; GRXCR1 autosomal recessive nonsyndromic deafness; autosomal recessive deafness 25; deafness, autosomal recessive 25; autosomal recessive nonsyndromic hearing loss 25
• Definition: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR1 gene.
• Disease Hierarchy:
  DIS8G9R9: Hearing loss, autosomal recessive
  DISOKCVA: Autosomal recessive nonsyndromic hearing loss 25
• Disease Identifiers:
  MONDO ID: MONDO_0013210
  UMLS CUI: C1414017
  OMIM ID: 613285
  MedGen ID: 237587

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
GRXCR1	OTPLNL6U	Strong	Autosomal recessive	[1]

References

• [1] Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment. Am J Hum Genet. 2010 Feb 12;86(2):138-47. doi: 10.1016/j.ajhg.2009.12.017. Epub 2010 Feb 4.