Details of Disease

General Information of Disease (ID: DIS61QAO)

• Disease Name: Autosomal recessive nonsyndromic hearing loss 89
• Synonyms: autosomal recessive nonsyndromic deafness caused by mutation in KARS; autosomal recessive nonsyndromic deafness 89; KARS autosomal recessive nonsyndromic deafness; deafness, autosomal recessive 89; autosomal recessive deafness 89; autosomal recessive nonsyndromic deafness type 89; DFNB89; deafness, autosomal recessive type 89; autosomal recessive nonsyndromic hearing loss 89
• Definition: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the KARS gene.
• Disease Hierarchy:
  DIS8G9R9: Hearing loss, autosomal recessive
  DIS61QAO: Autosomal recessive nonsyndromic hearing loss 89
• Disease Identifiers:
  MONDO ID: MONDO_0013489
  UMLS CUI: C3151351
  OMIM ID: 613916
  MedGen ID: 462701

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
KARS1	OT0EU4SV	Strong	Autosomal recessive	[1]

References

• [1] Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. Am J Hum Genet. 2013 Jul 11;93(1):132-40. doi: 10.1016/j.ajhg.2013.05.018. Epub 2013 Jun 13.