Details of Disease

General Information of Disease (ID: DISM6GAU)

Disease Name Auditory neuropathy
Synonyms progressive auditory neuropathy; familial auditory neuropathy; ANSD; auditory neuropathy spectrum disorder; auditory dys-synchrony; auditory neuropathy
Definition
A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception.|Editor note: OMIMPS seems to refer to a more restricted concept
Disease Hierarchy
DISKCLH4: Deafness
DISD715V: Hereditary neurological disease
DISRDGIM: Inherited auditory system disease
DISM6GAU: Auditory neuropathy
Disease Identifiers
MONDO ID
MONDO_0021944
MESH ID
C538268
UMLS CUI
C1852271
MedGen ID
338895

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
OPA1 TTTU49Q Limited Genetic Variation [1]
SLITRK6 TTTVEKI Definitive Genetic Variation [2]
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This Disease Is Related to 11 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DIAPH3 OTPOT23F Limited Autosomal dominant [3]
OTOF OTXQMJY8 Limited Biomarker [4]
SPTBN4 OTAJAVP9 Limited Genetic Variation [5]
AIFM1 OTKPWB7Q Disputed Genetic Variation [6]
MYO7A OTBZSPEL Strong Biomarker [7]
STRC OT3JQYVJ Strong Biomarker [7]
TMPRSS3 OT0GTO1Z Strong Biomarker [7]
ATP1A3 OTM8EG6H Definitive Genetic Variation [8]
PCDH9 OTX3BFV4 Definitive Genetic Variation [9]
PJVK OT9S47XC Definitive Genetic Variation [10]
TMEM126A OTLP76WE Definitive Biomarker [11]
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⏷ Show the Full List of 11 DOT(s)

References

1 OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation.Brain. 2015 Mar;138(Pt 3):563-76. doi: 10.1093/brain/awu378. Epub 2015 Jan 5.
2 A homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans.Laryngoscope. 2014 Mar;124(3):E95-103. doi: 10.1002/lary.24361. Epub 2013 Dec 17.
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.
4 Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics.J Transl Med. 2018 Nov 27;16(1):330. doi: 10.1186/s12967-018-1708-z.
5 Reorganization of Destabilized Nodes of Ranvier in IV Spectrin Mutants Uncovers Critical Timelines for Nodal Restoration and Prevention of Motor Paresis.J Neurosci. 2018 Jul 11;38(28):6267-6282. doi: 10.1523/JNEUROSCI.0515-18.2018. Epub 2018 Jun 15.
6 AUNX1, a novel locus responsible for X linked recessive auditory and peripheral neuropathy, maps to Xq23-27.3.J Med Genet. 2006 Jul;43(7):e33. doi: 10.1136/jmg.2005.037929.
7 Hereditary deafness and phenotyping in humans.Br Med Bull. 2002;63:73-94. doi: 10.1093/bmb/63.1.73.
8 Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.Hum Genet. 2018 Mar;137(3):279-280. doi: 10.1007/s00439-018-1870-7.
9 Pure monosomy and pure trisomy of 13q21.2-31.1 consequent to a familial insertional translocation: exclusion of PCDH9 as the responsible gene for autosomal dominant auditory neuropathy (AUNA1).Am J Med Genet A. 2009 May;149A(5):906-13. doi: 10.1002/ajmg.a.32754.
10 High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel.Clin Genet. 2012 Sep;82(3):271-6. doi: 10.1111/j.1399-0004.2011.01741.x. Epub 2011 Jul 18.
11 Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy.Mol Vis. 2010 Apr 13;16:650-64.