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

Molecular Interaction Atlas (MIA)
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]
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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.