Details of Disease

General Information of Disease (ID: DISRJ4H4)

• Disease Name: Autosomal recessive nonsyndromic hearing loss 31
• Synonyms: whirler, mouse, homolog of; deafness, autosomal recessive type 31; DFNB31; autosomal recessive nonsyndromic deafness 31; WHRN autosomal recessive nonsyndromic deafness; autosomal recessive deafness 31; autosomal recessive nonsyndromic deafness type 31; autosomal recessive nonsyndromic deafness caused by mutation in WHRN; deafness, autosomal recessive 31; autosomal recessive nonsyndromic hearing loss 31
• Definition: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the WHRN gene.
• Disease Hierarchy:
  DIS8G9R9: Hearing loss, autosomal recessive
  DISRJ4H4: Autosomal recessive nonsyndromic hearing loss 31
• Disease Identifiers:
  MONDO ID: MONDO_0011767
  MESH ID: C564629
  UMLS CUI: C1846839
  OMIM ID: 607084
  MedGen ID: 339621

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
WHRN	OT0A9J1A	Strong	Autosomal recessive	[1]

References

• [1] Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. Nat Genet. 2003 Aug;34(4):421-8. doi: 10.1038/ng1208.