Details of Disease

General Information of Disease (ID: DISUKXHK)

Disease Name Autosomal recessive nonsyndromic hearing loss 9
Synonyms
OTOF autosomal recessive nonsyndromic deafness; deafness, autosomal recessive type 9; deafness, autosomal recessive 9; autosomal recessive deafness 9; autosomal recessive nonsyndromic deafness 9; DFNB9; neurosensory nonsyndromic recessive deafness 9; auditory neuropathy, autosomal recessive, 1; auditory neuropathy, nonsyndromic recessive; autosomal recessive nonsyndromic deafness caused by mutation in OTOF; autosomal recessive nonsyndromic deafness type 9; NRSD9; autosomal recessive nonsyndromic hearing loss 9
Definition Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOF gene.
Disease Hierarchy
DISM6GAU: Auditory neuropathy
DIS8G9R9: Hearing loss, autosomal recessive
DISUKXHK: Autosomal recessive nonsyndromic hearing loss 9
Disease Identifiers
MONDO ID
MONDO_0010986
MESH ID
C563396
UMLS CUI
C1832828
OMIM ID
601071
MedGen ID
331376

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FER TTRA9G0 Strong Biomarker [1]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
STRC OT3JQYVJ Strong Biomarker [2]
TMPRSS3 OT0GTO1Z Strong Biomarker [2]
OTOF OTXQMJY8 Definitive Autosomal recessive [3]
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References

1 The third human FER-1-like protein is highly similar to dysferlin.Genomics. 2000 Sep 15;68(3):313-21. doi: 10.1006/geno.2000.6290.
2 Hereditary deafness and phenotyping in humans.Br Med Bull. 2002;63:73-94. doi: 10.1093/bmb/63.1.73.
3 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.