General Information of Disease (ID: DISQXGDY)

Disease Name Autosomal recessive nonsyndromic hearing loss 16
Synonyms
deafness, autosomal recessive 16; autosomal recessive deafness 16; STRC autosomal recessive nonsyndromic deafness; deafness, autosomal recessive type 16; DFNB16; autosomal recessive nonsyndromic deafness type 16; autosomal recessive nonsyndromic deafness caused by mutation in STRC; autosomal recessive nonsyndromic deafness 16; autosomal recessive nonsyndromic hearing loss 16
Definition Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the STRC gene.
Disease Hierarchy
DIS8G9R9: Hearing loss, autosomal recessive
DISQXGDY: Autosomal recessive nonsyndromic hearing loss 16
Disease Identifiers
MONDO ID
MONDO_0011364
MESH ID
C566339
UMLS CUI
C1863561
OMIM ID
603720
MedGen ID
350211

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
STRC OT3JQYVJ Strong Autosomal recessive [1]
TMPRSS3 OT0GTO1Z Strong Biomarker [2]
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References

1 Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus. Nat Genet. 2001 Nov;29(3):345-9. doi: 10.1038/ng726.
2 Hereditary deafness and phenotyping in humans.Br Med Bull. 2002;63:73-94. doi: 10.1093/bmb/63.1.73.