Details of Disease

General Information of Disease (ID: DISR7AAN)

• Disease Name: Autosomal recessive nonsyndromic hearing loss 8
• Synonyms: deafness, autosomal recessive 8; deafness, autosomal recessive 8/10; autosomal recessive nonsyndromic deafness type 8; deafness, childhood-onset neurosensory, autosomal recessive 8; autosomal recessive nonsyndromic deafness 8; autosomal recessive deafness 10; deafness, autosomal recessive type 8; deafness, autosomal recessive 10; DFNB10; childhood-onset neurosensory autosomal recessive deafness 8; autosomal recessive deafness 8; NRSD8; DFNB8; neurosensory nonsyndromic recessive deafness 8; autosomal recessive nonsyndromic hearing loss 8
• Definition: An autosomal recessive nonsyndromic deafness that has material basis in mutation in the TMPRSS3 gene on chromosome 21q22.
• Disease Hierarchy:
  DIS8G9R9: Hearing loss, autosomal recessive
  DISR7AAN: Autosomal recessive nonsyndromic hearing loss 8
• Disease Identifiers:
  MONDO ID: MONDO_0010987
  MESH ID: C563395
  UMLS CUI: C1832827
  OMIM ID: 601072
  MedGen ID: 322046

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
TMPRSS3	OT0GTO1Z	Strong	Autosomal recessive	[1]

References

• [1] Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. J Mol Med (Berl). 2002 Feb;80(2):124-31. doi: 10.1007/s00109-001-0310-6. Epub 2001 Dec 18.