Details of Disease

General Information of Disease (ID: DISMI1WE)

• Disease Name: Autosomal recessive nonsyndromic hearing loss 91
• Synonyms: autosomal recessive nonsyndromic deafness 91; deafness, autosomal recessive type 91; SERPINB6 autosomal recessive nonsyndromic deafness; autosomal recessive nonsyndromic deafness caused by mutation in SERPINB6; DFNB91; autosomal recessive nonsyndromic deafness type 91; deafness, autosomal recessive 91; autosomal recessive deafness 91; autosomal recessive nonsyndromic hearing loss 91
• Definition: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SERPINB6 gene.
• Disease Hierarchy:
  DIS8G9R9: Hearing loss, autosomal recessive
  DISMI1WE: Autosomal recessive nonsyndromic hearing loss 91
• Disease Identifiers:
  MONDO ID: MONDO_0013269
  UMLS CUI: C3150704
  OMIM ID: 613453
  MedGen ID: 462054

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
SERPINB6	OT7G55IK	Strong	Autosomal recessive	[1]

References

• [1] A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss. Am J Hum Genet. 2010 May 14;86(5):797-804. doi: 10.1016/j.ajhg.2010.04.004. Epub 2010 May 6.