Details of Disease

General Information of Disease (ID: DISCGR8W)

• Disease Name: Autosomal recessive nonsyndromic hearing loss 36
• Synonyms: deafness, autosomal dominant, without vestibular involvement; DFNB36; autosomal recessive nonsyndromic deafness type 36; autosomal recessive nonsyndromic deafness 36; deafness, autosomal recessive 36, with or without vestibular involvement; deafness, autosomal recessive 36; autosomal recessive nonsyndromic deafness caused by mutation in ESPN; autosomal recessive deafness 36; ESPN autosomal recessive nonsyndromic deafness; autosomal recessive nonsyndromic hearing loss 36; deafness, neurosensory, without vestibular involvement, autosomal dominant
• Definition: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESPN gene.
• Disease Hierarchy:
  DIS8G9R9: Hearing loss, autosomal recessive
  DISCGR8W: Autosomal recessive nonsyndromic hearing loss 36
• Disease Identifiers:
  MONDO ID: MONDO_0012170
  UMLS CUI: C1837007
  OMIM ID: 609006
  MedGen ID: 324662

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
ESPN	OT7Z6LX2	Strong	Autosomal recessive	[1]

References

• [1] Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction. J Med Genet. 2004 Aug;41(8):591-5. doi: 10.1136/jmg.2004.018523.