Details of Disease

General Information of Disease (ID: DISJTIVN)

• Disease Name: Autosomal recessive nonsyndromic hearing loss 59
• Synonyms: PJVK autosomal recessive nonsyndromic deafness; deafness, autosomal recessive type 59; autosomal recessive nonsyndromic deafness type 59; autosomal recessive deafness 59; deafness, autosomal recessive 59; DFNB59; autosomal recessive nonsyndromic deafness 59; autosomal recessive nonsyndromic deafness caused by mutation in PJVK; autosomal recessive nonsyndromic hearing loss 59
• Definition: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PJVK gene.
• Disease Hierarchy:
  DIS8G9R9: Hearing loss, autosomal recessive
  DISJTIVN: Autosomal recessive nonsyndromic hearing loss 59
• Disease Identifiers:
  MONDO ID: MONDO_0012445
  MESH ID: C565698
  UMLS CUI: C1857744
  OMIM ID: 610220
  MedGen ID: 387899

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
PJVK	OT9S47XC	Strong	Autosomal recessive	[1]

References

• [1] Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy. Nat Genet. 2006 Jul;38(7):770-8. doi: 10.1038/ng1829. Epub 2006 Jun 25.