MCID: ADT004
MIFTS: 31

Auditory Neuropathy malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Aliases & Classifications for Auditory Neuropathy

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Aliases & Descriptions for Auditory Neuropathy:

Name: Auditory Neuropathy 45 65
 
Auditory Dys-Synchrony 45


Classifications:



Summaries for Auditory Neuropathy

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Wikipedia:68 Auditory neuropathy (AN) is a variety of hearing loss in which the outer hair cells within the cochlea... more...

MalaCards based summary: Auditory Neuropathy, also known as auditory dys-synchrony, is related to neuropathy and auditory neuropathy, autosomal dominant, 1. An important gene associated with Auditory Neuropathy is DIAPH3 (Diaphanous-Related Formin 3). Affiliated tissues include brain, testes and cortex, and related mouse phenotypes are hearing/vestibular/ear and nervous system.

Related Diseases for Auditory Neuropathy

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Diseases in the Auditory Neuropathy family:

Auditory Neuropathy, Autosomal Dominant, 1

Diseases related to Auditory Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 56)
idRelated DiseaseScoreTop Affiliating Genes
1neuropathy11.2
2auditory neuropathy, autosomal dominant, 110.6
3sensorineural hearing loss10.5
4deafness, autosomal recessive 910.4
5nonsyndromic hearing loss and deafness, dfnb110.3GJB2, GJB6
6nonsyndromic hearing loss and deafness, mitochondrial10.3GJB2, GJB6
7deafness, autosomal recessive 5910.2
8deafness, autosomal recessive 1a10.2GJB2, GJB6
9hemangioma, hereditary10.2GJB2, GJB6
10pseudoaminopterin syndrome10.2GJB2, GJB6
11kienbock's disease10.2GJB2, GJB6
12colon carcinoma in situ10.2GJB2, GJB6
13x-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis10.2AIFM1, AUNX1
14dhdds-cdg10.2GJB2, GJB6, OTOF
15danon disease10.2AIFM1, AUNX1
16ectodermal dysplasia 2, clouston type10.2GJB2, GJB6
17bart-pumphrey syndrome10.2GJB2, GJB6
18acral persistent papular mucinosis10.2DIAPH3, GJB2, GJB6
19optic atrophy 710.2
20neuronitis10.2
21x-linked hereditary sensory and autonomic neuropathy with deafness10.2
22erythrokeratodermia variabilis et progressiva10.1GJB2, GJB6
23autism spectrum disorder10.1DFNB59, GJB2, GJB6, OTOF
24congenital deafness with vitiligo and achalasia10.1GJB2, GJB6, MT-RNR1
25nonsyndromic hearing loss and deafness, autosomal dominant10.1GJB2, GJB6, MT-RNR1
26bestiality10.0OPA1, TMEM126A
27acoustic neuroma10.0GJB2, GJB6, OTOF
28deafness, autosomal recessive 4, with enlarged vestibular aqueduct10.0GJB2, GJB6
29friedreich ataxia10.0
30charcot-marie-tooth disease10.0
31brown-vialetto-van laere syndrome10.0
32waardenburg's syndrome10.0
33dyslexia10.0
34chikungunya10.0
35cochlear disease10.0
36agnosia10.0
37astrocytoma10.0
38auditory system disease10.0
39cervicitis10.0
40myopathy10.0
41speech disorder10.0
42tooth disease10.0
43hearing disorders and deafness10.0
44hearing problems in children10.0
45neurologic diseases10.0
46mitochondrial disorders10.0
47pilocytic astrocytoma10.0
48hearing loss/deafness10.0
49ataxia10.0
50cytomegalovirus infection10.0

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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Drugs for Auditory Neuropathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Phase 3
2Peppermint oilPhase 330
3PeppermintNutraceuticalPhase 349
4
Oxaliplatinapproved, investigational127661825-94-35310940, 9887054, 6857599, 43805, 6857599, 9887054
Synonyms:
CHEMBL1201055
CID9887054
D01790
DACPLAT
Diaminocyclohexane Oxalatoplatinum
Eloxatin
Eloxatin (TN)
Elplat
Foloxatine
L-OHP
 
Oxalatoplatin
Oxalatoplatinum
Oxaliplatin
Oxaliplatin (JAN/USAN/INN)
Oxaliplatin [Usan:Inn:Ban]
Oxaliplatino [Spanish]
Oxaliplatinum [Latin]
Oxaloplatine [French]
Oxaloplatino [Spanish]
Transplatin
oxaliplatin

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Study of Sativex® for Relief of Peripheral Neuropathic Pain Associated With Allodynia.CompletedNCT00711880Phase 3
2Auditory Neuropathy and Cochlear ImplantsCompletedNCT01023932
3Hearing Loss and Dizziness in Patients Receiving Oxaliplatin for Solid TumorsCompletedNCT00305799
4Auditory Brainstem Implantation in Young ChildrenRecruitingNCT01904448Phase 0
5Giant Axonal Neuropathy Natural History StudyActive, not recruitingNCT01503125
6Photobiomodulation Therapy Using the Realief Therapy System for the Treatment of Chemotherapy-associated Peripheral NeuropathyActive, not recruitingNCT02000908

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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MalaCards organs/tissues related to Auditory Neuropathy:

33
Brain, Testes, Cortex, Bone

Animal Models for Auditory Neuropathy or affiliated genes

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MGI Mouse Phenotypes related to Auditory Neuropathy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.2DFNB59, GJB2, GJB6, GSC, OPA1, OTOF
2MP:00036317.2AIFM1, DFNB59, GJB2, GJB6, GRIA3, GSC
3MP:00053867.1AIFM1, DFNB59, GJB6, GRIA3, GSC, OPA1

Publications for Auditory Neuropathy

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Articles related to Auditory Neuropathy:

(show top 50)    (show all 280)
idTitleAuthorsYear
1
Cortical development and neuroplasticity in Auditory Neuropathy Spectrum Disorder. (26070426)
2015
2
SMAD4 Defect Causes Auditory Neuropathy Via Specialized Disruption of Cochlear Ribbon Synapses in Mice. (26491026)
2015
3
Saccular dysfunction in children with sensorineural hearing loss and auditory neuropathy/auditory dys-synchrony. (26246016)
2015
4
Auditory neuropathy in individuals with Type 1 diabetes. (24846202)
2014
5
Auditory neuropathy/dyssynchrony revisited. (25090808)
2014
6
Central recruitment in individual with auditory neuropathy. (26396961)
2014
7
Preliminary performance of cochlear implants in post-lingual patients with auditory neuropathy. (24438694)
2014
8
Speech and language outcomes of cochlear implantation in children with isolated auditory neuropathy versus cochlear hearing loss. (24232062)
2013
9
Objective Measures of Electrode Discrimination With Electrically Evoked Auditory Change Complex and Speech-Perception Abilities in Children With Auditory Neuropathy Spectrum Disorder. (24231629)
2013
10
Persistence of otoacoustic emissions in children with auditory neuropathy spectrum disorders. (23411132)
2013
11
Temporal processing and speech perception in noise by listeners with auditory neuropathy. (23409105)
2013
12
Genetic analysis of auditory neuropathy spectrum disorder in the Korean population. (23562982)
2013
13
Involvement of peripheral vestibular nerve in individuals with auditory neuropathy. (23143643)
2013
14
Auditory and communicative abilities in the auditory neuropathy spectrum disorder and mutation in the Otoferlin gene: clinical cases study. (22832688)
2012
15
Auditory neuropathy spectrum: the importance of adequate diagnosis. (24333894)
2012
16
Auditory evoked magnetic fields in patients with absent brainstem responses due to auditory neuropathy with optic atrophy. (22119798)
2012
17
Plasticity in the developing auditory cortex: evidence from children with sensorineural hearing loss and auditory neuropathy spectrum disorder. (22668761)
2012
18
A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy. (22575033)
2012
19
Audiologic management of auditory neuropathy spectrum disorder in children: a systematic review of the literature. (21940978)
2011
20
Perception of temporally modified speech in auditory neuropathy. (21047293)
2011
21
Synchronous auditory nerve activity in the carboplatin-chinchilla model of auditory neuropathy. (20649190)
2010
22
Auditory neuropathy associated with postnatally acquired cytomegalovirus infection in a very preterm infant. (22789691)
2010
23
Information from cochlear potentials and genetic mutations helps localize the lesion site in auditory neuropathy. (21176122)
2010
24
Auditory neuropathy in a patient exposed to xylene: case report. (18439334)
2009
25
Auditory neuropathy: three cases among a group with sensorineural hearing loss. (19787161)
2009
26
Perception of envelope-enhanced speech in the presence of noise by individuals with auditory neuropathy. (19125036)
2009
27
Prevalence of auditory neuropathy (AN) among infants and young children with severe to profound hearing loss. (19409623)
2009
28
Auditory neuropathy: unexpectedly common in a screened newborn population. (19416324)
2009
29
Predicting cochlear implant outcomes in children with auditory neuropathy. (18317399)
2008
30
Transplantation of mouse embryonic stem cells into the cochlea of an auditory-neuropathy animal model: effects of timing after injury. (18449604)
2008
31
Enhanced survival of bone-marrow-derived pluripotent stem cells in an animal model of auditory neuropathy. (17632425)
2007
32
Extremely low birth weight infants are at high risk for auditory neuropathy. (17703185)
2007
33
Receptive language and speech production in children with auditory neuropathy/dyssynchrony type hearing loss. (17804983)
2007
34
Cortical auditory evoked potentials in the assessment of auditory neuropathy: two case studies. (17715648)
2007
35
Fluctuating corticosteroid-responsive auditory neuropathy/dyssynchrony is suggestive of central nervous system pathology. (17921910)
2007
36
Auditory neuropathy in a patient with mitochondrial myopathy and multiple mtDNA deletions. (16719954)
2006
37
Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy. (16804542)
2006
38
Transient infantile auditory neuropathy and its clinical implications. (16769129)
2006
39
Auditory neuropathy in hyperbilirubinemia: is there a correlation between serum bilirubin, neuron-specific enolase levels and auditory neuropathy? (15726842)
2004
40
Auditory neuropathy/dyssynchrony: its diagnosis and management. (12809326)
2003
41
Cochlear implants in five cases of auditory neuropathy: postoperative findings and progress. (11359119)
2001
42
Screening for auditory neuropathy in a school for hearing impaired children. (11576630)
2001
43
Consequences of neural asynchrony: a case of auditory neuropathy. (11548236)
2000
44
Auditory neuropathy in children. (11603772)
2000
45
Brainstem auditory evoked potentials and cochlear microphonics in the HMSN family with auditory neuropathy. (10653192)
2000
46
Distortion product otoacoustic emission suppression in subjects with auditory neuropathy. (11132781)
2000
47
Vestibular function in auditory neuropathy. (11132719)
2000
48
Auditory neuropathy and a mitochondrial disorder in a child: case study. (10522621)
1999
49
Clinical findings for a group of infants and young children with auditory neuropathy. (10386850)
1999
50
Auditory neuropathy. (8673487)
1996

Variations for Auditory Neuropathy

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Clinvar genetic disease variations for Auditory Neuropathy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MT-RNR1m.1095T> Csingle nucleotide variantPathogenicrs267606618GRCh37Chr MT, 1095: 1095

Expression for genes affiliated with Auditory Neuropathy

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Search GEO for disease gene expression data for Auditory Neuropathy.

Pathways for genes affiliated with Auditory Neuropathy

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GO Terms for genes affiliated with Auditory Neuropathy

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Cellular components related to Auditory Neuropathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1connexon complexGO:000592210.1GJB2, GJB6
2gap junctionGO:000592110.0GJB2, GJB6

Biological processes related to Auditory Neuropathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sensory perception of soundGO:00076059.2DFNB59, GJB2, GJB6, OTOF, SLITRK6

Sources for Auditory Neuropathy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet