Details of Disease

General Information of Disease (ID: DISZSADW)

• Disease Name: Autosomal recessive nonsyndromic hearing loss 28
• Synonyms: deafness, autosomal recessive type 28; deafness, autosomal recessive 28; DFNB28; autosomal recessive nonsyndromic deafness caused by mutation in TRIOBP; autosomal recessive nonsyndromic deafness type 28; TRIOBP autosomal recessive nonsyndromic deafness; autosomal recessive nonsyndromic deafness 28; autosomal recessive deafness 28; autosomal recessive nonsyndromic hearing loss 28
• Definition: An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by severe to profound sensorineural hearing loss.
• Disease Hierarchy:
  DIS8G9R9: Hearing loss, autosomal recessive
  DISZSADW: Autosomal recessive nonsyndromic hearing loss 28
• Disease Identifiers:
  MONDO ID: MONDO_0012355
  MESH ID: C565218
  UMLS CUI: C1853276
  OMIM ID: 609823
  MedGen ID: 342839

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
TRIOBP	OTGB5WHC	Definitive	Autosomal recessive	[1]

References

• [1] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.