Details of Disease

General Information of Disease (ID: DISAFFGJ)

• Disease Name: Autosomal recessive nonsyndromic hearing loss 102
• Synonyms: DFNB102; autosomal recessive nonsyndromic deafness type 102; EPS8 autosomal recessive nonsyndromic deafness; autosomal recessive nonsyndromic deafness 102; autosomal recessive deafness 102; autosomal recessive nonsyndromic deafness caused by mutation in EPS8; deafness, autosomal recessive type 102; deafness, autosomal recessive 102; autosomal recessive nonsyndromic hearing loss 102
• Definition: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the EPS8 gene.
• Disease Hierarchy:
  DIS8G9R9: Hearing loss, autosomal recessive
  DISAFFGJ: Autosomal recessive nonsyndromic hearing loss 102
• Disease Identifiers:
  MONDO ID: MONDO_0014428
  UMLS CUI: C3892050
  OMIM ID: 615974
  MedGen ID: 856149

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
EPS8	OTZ6ES6V	Strong	Autosomal recessive	[1]

References

• [1] EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness. Orphanet J Rare Dis. 2014 Apr 17;9:55. doi: 10.1186/1750-1172-9-55.