MCID: ADT004
MIFTS: 35

Auditory Neuropathy

Categories: Rare diseases, Neuronal diseases, Genetic diseases, Ear diseases

Aliases & Classifications for Auditory Neuropathy

MalaCards integrated aliases for Auditory Neuropathy:

Name: Auditory Neuropathy 50 29 69
Auditory Neuropathy Spectrum Disorder 69
Auditory Dys-Synchrony 50

Classifications:



Summaries for Auditory Neuropathy

NIH Rare Diseases : 50 auditory neuropathy is a rare condition that can affect a person's ability to hear. although sounds enter the inner ear normally, signals from the inner ear to the brain are not transmitted properly. as a result, the condition may be associated with mild to severe hearing loss and poor speech-perception abilities (difficulty understanding speech clearly). auditory neuropathy can be associated with other neurological disorders such as friedrich ataxia, stevens-johnson syndrome, ehlers-danlos syndrome, and charcot-marie-tooth syndrome. the exact underlying cause of auditory neuropathy is not completely understood; however, researchers have proposed many possible explanations including damage to the hair cells of the inner ears, faulty connections between the hair cells and the auditory nerve (the nerve connecting the inner ear to the brain), damage to the auditory nerve, and/or a combination of these abnormalities. in many cases, auditory neuropathy occurs sporadically in people with no family history of the condition; however, the condition does run in some families suggesting that genetic factors may play a role in some cases. treatment varies based on the severity of the condition but aims to improve hearing (i.e. hearing aids and cochlear implants) and communication skills. last updated: 12/28/2015

MalaCards based summary : Auditory Neuropathy, also known as auditory neuropathy spectrum disorder, is related to deafness, autosomal recessive 9 and auditory neuropathy, autosomal dominant, 1. An important gene associated with Auditory Neuropathy is DIAPH3 (Diaphanous Related Formin 3). The drugs Menthol and Oxaliplatin have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and cortex, and related phenotypes are hearing/vestibular/ear and integument

Wikipedia : 72 Auditory neuropathy (AN) is a variety of hearing loss in which the outer hair cells within the cochlea... more...

Related Diseases for Auditory Neuropathy

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 76)
id Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 9 33.6 GJB2 OTOF
2 auditory neuropathy, autosomal dominant, 1 12.3
3 deafness, x-linked 5 11.6
4 deafness, autosomal recessive 59 11.5
5 optic atrophy 7 11.4
6 x-linked hereditary sensory and autonomic neuropathy with deafness 10.9
7 neuropathy 10.8
8 deafness and myopia 10.8
9 spastic paraplegia 29 10.8
10 leber congenital amaurosis 14 10.7 GJB2 OTOF
11 bifid nose with or without anorectal and renal anomalies 10.7 OTOF PJVK
12 ectodermal dysplasia 6, hair/nail type 10.7 OTOF PJVK
13 deafness, autosomal dominant 11 10.6 GJB2 OTOF
14 viral infectious disease 10.6 OPA1 TMEM126A
15 deafness, autosomal recessive 10.5 GJB2 OTOF PJVK
16 myocardial infarction 2 10.5 GJB2 GJB6
17 myopia 22, autosomal dominant 10.5 GJB2 GJB6
18 deafness, autosomal dominant 3a 10.5 GJB2 GJB6
19 psoriatic arthritis 10.5 GJB2 PJVK
20 kikuchi disease 10.5 GJB2 GJB6
21 pseudocholinesterase deficiency 10.5 GJB2 GJB6
22 troyer syndrome 10.4 GJB2 GJB6
23 human t-cell leukemia virus type 1 10.4 CHGA GJB2
24 keratoderma, palmoplantar, with deafness 10.4 GJB2 GJB6
25 congenital muscular dystrophy due to lmna mutation 10.4 GJB2 OTOF
26 pigmented nodular adrenocortical disease, primary, 2 10.4 DIAPH3 GJB2 OTOF PJVK
27 developmental dysplasia of the hip 1 10.4 DIAPH3 GJB2 OTOF PJVK
28 deafness, autosomal dominant 36 10.4 GJB2 MT-RNR1
29 cataract 26, multiple types 10.4 GJB2 MT-RNR1
30 diabetes persistent mullerian ducts 10.3 GJB2 GJB6 OTOF
31 microcephaly and chorioretinopathy, autosomal recessive, 3 10.3 GJB2 GJB6 OTOF
32 nodular lichen myxedematosus 10.3 DIAPH3 GJB2 GJB6
33 dihydrolipoamide dehydrogenase deficiency 10.3 GJB2 GJB6 OTOF
34 severe combined immunodeficiency, athabascan type 10.2 GJB2 MT-RNR1
35 viral laryngitis 10.2 GJB2 GJB6
36 endometritis 10.2 GJB2 GJB6 OTOF
37 erythrokeratodermia variabilis et progressiva 1 10.1 GJB2 GJB6
38 nonsyndromic hydrocephalus, ccdc88c-related 10.1 GJB2 GJB6 OTOF PJVK
39 autosomal recessive nonsyndromic deafness 8 10.1 GJB2 OTOF
40 sensorineural hearing loss 10.1
41 deafness, autosomal dominant 2a 10.0 GJB2 GJB6
42 congenital disorder of glycosylation with developmental anomaly 10.0 GJB2 GJB6 MT-RNR1
43 fascioliasis 10.0 GJB2 GJB6 MT-RNR1
44 mixed lacrimal gland cancer 10.0 GJB2 GJB6 MT-RNR1
45 discrete papular lichen myxedematosus 9.8 GJB2 GJB6 OTOF PJVK SLITRK6
46 narcissistic personality disorder 9.8 GJB2 GJB6 MT-RNR1 OTOF
47 neuronitis 9.8
48 brown-vialetto-van laere syndrome 9.7
49 ataxia 9.7
50 autosomal recessive nonsyndromic deafness 9.6 GJB2 GJB6 MT-RNR1 OTOF PJVK

Graphical network of the top 20 diseases related to Auditory Neuropathy:



Diseases related to Auditory Neuropathy

Symptoms & Phenotypes for Auditory Neuropathy

MGI Mouse Phenotypes related to Auditory Neuropathy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.5 GJB2 GJB6 GSC OPA1 OTOF SLC52A2
2 integument MP:0010771 9.17 AIFM1 GJB2 GJB6 GRIA3 GSC PICALM

Drugs & Therapeutics for Auditory Neuropathy

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved Phase 2 2216-51-5 16666
2
Oxaliplatin Approved, Investigational 61825-94-3 5310940 9887054 43805 6857599

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Using Game-based Exercise to Improve Balance in Cancer Patients Recruiting NCT02773329 Phase 2
2 Auditory Neuropathy and Cochlear Implants Completed NCT01023932
3 Hearing Loss and Dizziness in Patients Receiving Oxaliplatin for Solid Tumors Completed NCT00305799
4 Photobiomodulation Therapy Using the Realief Therapy System for the Treatment of Chemotherapy-associated Peripheral Neuropathy Active, not recruiting NCT02000908
5 Follow-up Survey of Patients Who Were Treated for Medulloblastoma or Primitive Neuroectodermal Tumors of the Central Nervous in Norway Enrolling by invitation NCT02851355
6 Auditory Brainstem Implantation in Young Children Suspended NCT01904448
7 Giant Axonal Neuropathy Natural History Study Terminated NCT01503125

Search NIH Clinical Center for Auditory Neuropathy

Genetic Tests for Auditory Neuropathy

Genetic tests related to Auditory Neuropathy:

id Genetic test Affiliating Genes
1 Auditory Neuropathy 29

Anatomical Context for Auditory Neuropathy

MalaCards organs/tissues related to Auditory Neuropathy:

39
Brain, Testes, Cortex, Bone

Publications for Auditory Neuropathy

Articles related to Auditory Neuropathy:

(show top 50) (show all 334)
id Title Authors Year
1
Chronic encephalopathy with ataxia, myoclonus, and auditory neuropathy: A case of bismuth poisoning. ( 28084272 )
2017
2
Auditory Neuropathy after Damage to Cochlear Spiral Ganglion Neurons in Mice Resulting from Conditional Expression of Diphtheria Toxin Receptors. ( 28743950 )
2017
3
Modiolar ossification in paediatric patients with auditory neuropathy. ( 28502273 )
2017
4
A Case of Auditory Neuropathy Caused by Pontine Hemorrhage in an Adult. ( 28704898 )
2017
5
A homozygous MYO7A mutation associated to Usher syndrome and unilateral auditory neuropathy spectrum disorder. ( 28731162 )
2017
6
Prevalence of vestibular symptoms in individuals with auditory neuropathy spectrum disorder - A retrospective study. ( 28357181 )
2017
7
Deep band modulated phrase perception in quiet and noise in individuals with auditory neuropathy spectrum disorder and sensorineural hearing loss. ( 28816204 )
2017
8
Effectiveness of low-cut modified amplification strategy and channel-free hearing aid in individuals with auditory neuropathy spectrum disorder. ( 28485679 )
2017
9
Auditory Performance and Electrical Stimulation Measures in Cochlear Implant Recipients With Auditory Neuropathy Compared With Severe to Profound Sensorineural Hearing Loss. ( 28225734 )
2017
10
AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance. ( 28601886 )
2017
11
Intraoperative Electrocochleographic Characteristics of Auditory Neuropathy Spectrum Disorder in Cochlear Implant Subjects. ( 28769753 )
2017
12
Clinical role of electrocochleography in children with auditory neuropathy spectrum disorder. ( 28688553 )
2017
13
Evaluation of Hearing Handicap in Adults with Auditory Neuropathy Spectrum Disorder. ( 28816694 )
2017
14
Timing of cochlear implantation in auditory neuropathy patients with OTOF mutations: Our experience with 10 patients. ( 28766844 )
2017
15
The management of pediatric hearing loss caused by auditory neuropathy spectrum disorder. ( 28708635 )
2017
16
Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder. ( 28335750 )
2017
17
Speech Perception in Quiet and in Noise Condition in Individuals with Auditory Neuropathy Spectrum Disorder. ( 28555599 )
2017
18
Effectiveness of Low Cut Modified Amplification using Receiver in the Canal Hearing Aid in Individuals with Auditory Neuropathy Spectrum Disorder. ( 28680492 )
2017
19
Auditory neuropathy spectrum disorder (ANSD) in referrals from neonatal hearing screening at a well-baby clinic. ( 27220871 )
2016
20
A novel missense mutation in the C2C domain of otoferlin causes profound hearing impairment in an Omani family with auditory neuropathy. ( 27652356 )
2016
21
Temperature sensitive auditory neuropathy. ( 26778470 )
2016
22
Diverse etiologies manifesting auditory neuropathy characteristics from infants with profound hearing loss and clinical implications. ( 27260582 )
2016
23
Molecular Impairment Mechanisms of Novel OPA1 Mutations Predicted by Molecular Modeling in Patients With Autosomal Dominant Optic Atrophy and Auditory Neuropathy Spectrum Disorder. ( 26905822 )
2016
24
Relationship Between Patients with Clinical Auditory Neuropathy Spectrum Disorder and Mutations in Gjb2 Gene. ( 27843504 )
2016
25
Auditory neuropathy - neural and synaptic mechanisms. ( 26891769 )
2016
26
The Relative Contributions of Temporal Envelope and Fine Structure to Mandarin Lexical Tone Perception in Auditory Neuropathy Spectrum Disorder. ( 27080664 )
2016
27
Auditory Neuropathy/Dyssynchrony in Biotinidase Deficiency. ( 27144235 )
2016
28
Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency. ( 26918385 )
2016
29
Autosomal dominant auditory neuropathy and variant DIAPH3 (c.-173C>T). ( 27658576 )
2016
30
Prevalence and Audiological Characteristics of Auditory Neuropathy Spectrum Disorder in Pediatric Population: A Retrospective Study. ( 27340636 )
2016
31
Monitoring the Hearing Handicap and the Recognition Threshold of Sentences of a Patient with Unilateral Auditory Neuropathy Spectrum Disorder with Use of a Hearing Aid. ( 27096026 )
2016
32
Evaluation of Depression, Anxiety, and Stress in Adolescents and Young Adults with Auditory Neuropathy Spectrum Disorder. ( 27579218 )
2016
33
Speech perception in users of hearing aid with auditory neuropathy spectrum disorder. ( 27074185 )
2016
34
Performance-Intensity Function and Aided Improvement in Individuals With Late-Onset Auditory Neuropathy Spectrum Disorder. ( 27755139 )
2016
35
Detection Rates of Cortical Auditory Evoked Potentials at Different Sensation Levels in Infants with Sensory/Neural Hearing Loss and Auditory Neuropathy Spectrum Disorder. ( 27587922 )
2016
36
Performance of Cochlear Implants in Pediatric Patients with Auditory Neuropathy Spectrum Disorder. ( 27340976 )
2016
37
Unbound Bilirubin and Auditory Neuropathy Spectrum Disorder in Late Preterm and Term Infants with Severe Jaundice. ( 26952116 )
2016
38
Audiological Profile of Adult Persons with Auditory Neuropathy Spectrum Disorders. ( 27942602 )
2016
39
High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder. ( 26818607 )
2016
40
Molecular study of patients with auditory neuropathy. ( 27177047 )
2016
41
Study of cochlear microphonic potentials in auditory neuropathy. ( 27177976 )
2016
42
Remodeling of the Inner Hair Cell Microtubule Meshwork in a Mouse Model of Auditory Neuropathy AUNA1. ( 28058271 )
2016
43
Photobiomodulation by laser therapy rescued auditory neuropathy induced by ouabain. ( 27666974 )
2016
44
Children with Auditory Neuropathy Spectrum Disorder Fitted with Hearing Aids Applying the American Academy of Audiology Pediatric Amplification Guideline: Current Practice and Outcomes. ( 26967362 )
2016
45
Understanding auditory neuropathy spectrum disorder: a systematic review in transgenic mouse models. ( 26783139 )
2016
46
Gender Differences in Audiological Findings and Hearing Aid Benefit in 255 Individuals with Auditory Neuropathy Spectrum Disorder: A Retrospective Study. ( 27885979 )
2016
47
SMAD4 Defect Causes Auditory Neuropathy Via Specialized Disruption of Cochlear Ribbon Synapses in Mice. ( 26491026 )
2015
48
Audiological changes over time in adolescents and young adults with auditory neuropathy spectrum disorder. ( 25577995 )
2015
49
Satisfaction of Children with Auditory Neuropathy and Cochlear Implant. ( 26915155 )
2015
50
Acquired auditory neuropathy spectrum disorder after an attack of chikungunya: case study. ( 25728940 )
2015

Variations for Auditory Neuropathy

ClinVar genetic disease variations for Auditory Neuropathy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MT-RNR1 m.1095T> C single nucleotide variant drug response rs267606618 GRCh37 Chromosome MT, 1095: 1095

Expression for Auditory Neuropathy

Search GEO for disease gene expression data for Auditory Neuropathy.

Pathways for Auditory Neuropathy

GO Terms for Auditory Neuropathy

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

id Name GO ID Score Top Affiliating Genes
1 gap junction GO:0005921 8.96 GJB2 GJB6
2 connexin complex GO:0005922 8.62 GJB2 GJB6

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

id Name GO ID Score Top Affiliating Genes
1 response to ischemia GO:0002931 9.16 AIFM1 GJB2
2 sensory perception of sound GO:0007605 8.92 GJB2 GJB6 OTOF SLITRK6
3 response to electrical stimulus GO:0051602 8.65 GJB6

Sources for Auditory Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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