Details of Disease

General Information of Disease (ID: DISUYW83)

• Disease Name: Autosomal recessive nonsyndromic hearing loss 18A
• Synonyms: autosomal recessive nonsyndromic deafness 18A; deafness, autosomal recessive 18a; deafness, autosomal recessive 18; autosomal recessive nonsyndromic deafness caused by mutation in USH1C; DFNB18A; USH1C autosomal recessive nonsyndromic deafness; autosomal recessive deafness 18A; autosomal recessive nonsyndromic deafness type 18A; deafness, autosomal recessive type 18A; deafness, autosomal recessive 18A
• Definition: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the USH1C gene.
• Disease Hierarchy:
  DIS8G9R9: Hearing loss, autosomal recessive
  DISUYW83: Autosomal recessive nonsyndromic hearing loss 18A
• Disease Identifiers:
  MONDO ID: MONDO_0011192
  MESH ID: C566580
  UMLS CUI: C1865870
  OMIM ID: 602092
  MedGen ID: 356389

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
USH1C	OTFB6V34	Strong	Autosomal recessive	[1]

References

• [1] Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. Hum Genet. 2002 Jun;110(6):527-31. doi: 10.1007/s00439-002-0732-4. Epub 2002 May 3.