MCID: ADT004
MIFTS: 37

Auditory Neuropathy malady

Rare diseases, Neuronal diseases categories
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Summaries for Auditory Neuropathy

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65Wikipedia, 33MalaCards
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Wikipedia:65 Auditory neuropathy (AN) is a variety of hearing loss in which the outer hair cells within the cochlea... more...

MalaCards: Auditory Neuropathy, also known as auditory dys-synchrony, is related to neuropathy and sensorineural hearing loss. An important gene associated with Auditory Neuropathy is DIAPH3 (diaphanous-related formin 3), and among its related pathways are Gap junction trafficking and Clathrin derived vesicle budding. The compounds 10panx and scrambled 10panx have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and bone, and related mouse phenotypes are hearing/vestibular/ear and behavior/neurological.

Aliases & Classifications for Auditory Neuropathy

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43NIH Rare Diseases, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Neuronal diseases


Aliases & Descriptions:

auditory neuropathy 43 62
auditory dys-synchrony 43


Related Diseases for Auditory Neuropathy

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Auditory Neuropathy:



Diseases related to auditory neuropathy

Symptoms for Auditory Neuropathy

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Drugs & Therapeutics for Auditory Neuropathy

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Auditory Neuropathy

Search NIH Clinical Center for Auditory Neuropathy

Genetic Tests for Auditory Neuropathy

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Anatomical Context for Auditory Neuropathy

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33MalaCards
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MalaCards organs/tissues related to Auditory Neuropathy:

33
Brain, Testes, Bone, Cortex

Animal Models for Auditory Neuropathy or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Auditory Neuropathy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.6OTOF, DFNB59, GSC, GJB6, GJB2, SLITRK6
2MP:00053868.3MPZ, GSC, GJB6, GRIA3, SLITRK6, OTOF
3MP:00036317.7DFNB59, MPZ, GSC, GJB6, GJB2, GRIA3

Publications for Auditory Neuropathy

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52PubMed
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Articles related to Auditory Neuropathy:

(show top 50)    (show all 237)
idTitleAuthorsYear
1
Speech and language outcomes of cochlear implantation in children with isolated auditory neuropathy versus cochlear hearing loss. (24232062)
2013
2
Objective Measures of Electrode Discrimination With Electrically Evoked Auditory Change Complex and Speech-Perception Abilities in Children With Auditory Neuropathy Spectrum Disorder. (24231629)
2013
3
Persistence of otoacoustic emissions in children with auditory neuropathy spectrum disorders. (23411132)
2013
4
Temporal processing and speech perception in noise by listeners with auditory neuropathy. (23409105)
2013
5
Genetic analysis of auditory neuropathy spectrum disorder in the Korean population. (23562982)
2013
6
Involvement of peripheral vestibular nerve in individuals with auditory neuropathy. (23143643)
2013
7
Vestibular test findings in individuals with auditory neuropathy: review. (23521835)
2013
8
Auditory and communicative abilities in the auditory neuropathy spectrum disorder and mutation in the Otoferlin gene: clinical cases study. (22832688)
2012
9
Auditory neuropathy spectrum: the importance of adequate diagnosis. (24333894)
2012
10
Auditory evoked magnetic fields in patients with absent brainstem responses due to auditory neuropathy with optic atrophy. (22119798)
2012
11
Plasticity in the developing auditory cortex: evidence from children with sensorineural hearing loss and auditory neuropathy spectrum disorder. (22668761)
2012
12
A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy. (22575033)
2012
13
Audiologic management of auditory neuropathy spectrum disorder in children: a systematic review of the literature. (21940978)
2011
14
Perception of temporally modified speech in auditory neuropathy. (21047293)
2011
15
Impairments of the medial olivocochlear system increase the risk of noise-induced auditory neuropathy in laboratory mice. (21956602)
2011
16
Clinical Application of the P1 Cortical Auditory Evoked Potential Biomarker in Children with Sensorineural Hearing Loss and Auditory Neuropathy Spectrum Disorder. (24078765)
2011
17
Synchronous auditory nerve activity in the carboplatin-chinchilla model of auditory neuropathy. (20649190)
2010
18
Auditory neuropathy associated with postnatally acquired cytomegalovirus infection in a very preterm infant. (22789691)
2010
19
Information from cochlear potentials and genetic mutations helps localize the lesion site in auditory neuropathy. (21176122)
2010
20
Auditory neuropathy in a patient exposed to xylene: case report. (18439334)
2009
21
Auditory neuropathy: three cases among a group with sensorineural hearing loss. (19787161)
2009
22
Perception of envelope-enhanced speech in the presence of noise by individuals with auditory neuropathy. (19125036)
2009
23
Prevalence of auditory neuropathy (AN) among infants and young children with severe to profound hearing loss. (19409623)
2009
24
Auditory neuropathy: unexpectedly common in a screened newborn population. (19416324)
2009
25
Predicting cochlear implant outcomes in children with auditory neuropathy. (18317399)
2008
26
Transplantation of mouse embryonic stem cells into the cochlea of an auditory-neuropathy animal model: effects of timing after injury. (18449604)
2008
27
Enhanced survival of bone-marrow-derived pluripotent stem cells in an animal model of auditory neuropathy. (17632425)
2007
28
Extremely low birth weight infants are at high risk for auditory neuropathy. (17703185)
2007
29
Receptive language and speech production in children with auditory neuropathy/dyssynchrony type hearing loss. (17804983)
2007
30
Cortical auditory evoked potentials in the assessment of auditory neuropathy: two case studies. (17715648)
2007
31
Fluctuating corticosteroid-responsive auditory neuropathy/dyssynchrony is suggestive of central nervous system pathology. (17921910)
2007
32
Auditory neuropathy in a patient with mitochondrial myopathy and multiple mtDNA deletions. (16719954)
2006
33
Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy. (16804542)
2006
34
Transient infantile auditory neuropathy and its clinical implications. (16769129)
2006
35
Multiple auditory steady-state responses in children and adults with normal hearing, sensorineural hearing loss, or auditory neuropathy. (16676823)
2006
36
Auditory neuropathy in children: diagnostic criteria and audiological test results. (16340284)
2005
37
Auditory neuropathy in hyperbilirubinemia: is there a correlation between serum bilirubin, neuron-specific enolase levels and auditory neuropathy? (15726842)
2004
38
Auditory neuropathy/dyssynchrony: its diagnosis and management. (12809326)
2003
39
Cochlear implants in five cases of auditory neuropathy: postoperative findings and progress. (11359119)
2001
40
Screening for auditory neuropathy in a school for hearing impaired children. (11576630)
2001
41
Consequences of neural asynchrony: a case of auditory neuropathy. (11548236)
2000
42
Auditory neuropathy in children. (11603772)
2000
43
Brainstem auditory evoked potentials and cochlear microphonics in the HMSN family with auditory neuropathy. (10653192)
2000
44
Distortion product otoacoustic emission suppression in subjects with auditory neuropathy. (11132781)
2000
45
Vestibular function in auditory neuropathy. (11132719)
2000
46
Auditory neuropathy and a mitochondrial disorder in a child: case study. (10522621)
1999
47
Clinical findings for a group of infants and young children with auditory neuropathy. (10386850)
1999
48
Transient deafness due to temperature-sensitive auditory neuropathy. (9657592)
1998
49
Temporal distortion products (kernel slices) evoked by maximum-length-sequences in auditory neuropathy: evidence for a cochlear pre-synaptic origin. (9076248)
1997
50
Auditory neuropathy. (8673487)
1996

Variations for Auditory Neuropathy

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Auditory Neuropathy:

1
id Gene Name Type Significance SNP ID Assembly Location
1MT-RNR1m.1095T> Csingle nucleotide variantPathogenic, Uncertain significancers267606618GRCh37Chr MT, 1095: 1095

Expression for genes affiliated with Auditory Neuropathy

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Auditory Neuropathy

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Pathways for genes affiliated with Auditory Neuropathy

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50PathCards, 55Reactome
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Compounds for genes affiliated with Auditory Neuropathy

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Sources:
61Tocris Bioscience, 29IUPHAR, 24HMDB, 45Novoseek, 11DrugBank, 3BitterDB
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Compounds related to Auditory Neuropathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
110panx6110.1GJB2, GJB6
2scrambled 10panx6110.0GJB2, GJB6
3carbenoxolone disodium6110.0GJB2, GJB6
4gap 276110.0GJB2, GJB6
5octanol29 2410.9GJB6, GJB2
6carbenoxolone45 29 1111.9GJB2, GJB6
7ca2+299.8GJB2, GJB6
8flufenamic acid29 45 3 1112.6GJB6, GJB2
9methionine459.5GJB2, CHGA, MPZ

GO Terms for genes affiliated with Auditory Neuropathy

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16Gene Ontology
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Cellular components related to Auditory Neuropathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1connexon complexGO:0059229.9GJB2, GJB6

Biological processes related to Auditory Neuropathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sensory perception of soundGO:0076058.9OTOF, SLITRK6, GJB2, GJB6, DFNB59

Products for genes affiliated with Auditory Neuropathy

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  • Antibodies
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Sources for Auditory Neuropathy

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet