MCID: ADT004
MIFTS: 36

Auditory Neuropathy malady

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

Aliases & Classifications for Auditory Neuropathy

Aliases & Descriptions 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 auditory neuropathy, autosomal dominant, 1 and deafness, autosomal recessive 9. An important gene associated with Auditory Neuropathy is DIAPH3 (Diaphanous Related Formin 3). The drugs Ethanol and Peppermint oil have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and bone, and related phenotypes are hearing/vestibular/ear and integument

Wikipedia : 71 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 74)
id Related Disease Score Top Affiliating Genes
1 auditory neuropathy, autosomal dominant, 1 12.3
2 deafness, autosomal recessive 9 11.7
3 deafness, x-linked 5 11.6
4 optic atrophy 7 11.5
5 deafness, autosomal recessive 59 11.5
6 x-linked hereditary sensory and autonomic neuropathy with deafness 10.8
7 neuropathy 10.8
8 deafness and myopia 10.8
9 trichothiodystrophy 5, nonphotosensitive 10.3 AIFM1 AUNX1
10 panic disorder 3 10.3 GJB2 OTOF
11 dnase1-related susceptibility to systemic lupus erythematosus 10.3 GJB2 GJB6
12 down syndrome-related congenital heart disease 10.3 GJB2 GJB6
13 spastic ataxia, charlevoix-saguenay type 10.3 GJB2 GJB6
14 pik3ca-related segmental overgrowth 10.3 GJB2 GJB6
15 hereditary colorectal cancer 10.3 DFNB59 GJB2
16 bietti crystalline corneoretinal dystrophy 10.3 GJB2 GJB6
17 pink1 type of young-onset parkinson disease 10.3 GJB2 GJB6
18 manitoba oculotrichoanal syndrome 10.3 DFNB59 OTOF
19 keratoderma, palmoplantar, with deafness 10.3 GJB2 GJB6
20 xanthinuria, type i 10.3 DFNB59 GJB2 OTOF
21 klumpke paralysis 10.3 GJB2 GJB6
22 sjogren-larsson syndrome 10.2 DFNB59 OTOF
23 pseudomyotonia 10.2 GJB2 GJB6
24 ectodermal dysplasia 2, clouston type 10.2 GJB2 GJB6
25 die smulders droog van dijk syndrome 10.2 GJB2 GJB6 OTOF
26 bartter syndrome, type 1 10.2 GJB2 GJB6 OTOF
27 troyer syndrome 10.2 GJB2 GJB6
28 erythrocytosis due to bisphosphoglycerate mutase deficiency 10.2 GJB2 GJB6 OTOF
29 status asthmaticus 10.2 OPA1 TMEM126A
30 telangiectasia macularis eruptiva perstans 10.2 DIAPH3 GJB2 GJB6
31 pigmented nodular adrenocortical disease, primary, 2 10.2 DFNB59 DIAPH3 GJB2 OTOF
32 autosomal dominant nonsyndromic deafness 69 10.2 GJB2 OTOF
33 hirschsprung disease 2 10.2 DFNB59 DIAPH3 GJB2 OTOF
34 duodenum cancer 10.1 GJB2 GJB6 OTOF
35 leprosy 4 10.1 DFNB59 GJB2
36 cataract 26, multiple types 10.0 GJB2 MT-RNR1
37 sturge-weber syndrome, somatic, mosaic 10.0 GJB2 MT-RNR1
38 sensorineural hearing loss 10.0
39 deafness, autosomal dominant 2a 10.0 GJB2 GJB6
40 efemp2-related cutis laxa 10.0 DFNB59 GJB2 MT-RNR1
41 congenital herpes simplex 10.0 GJB2 GJB6 MT-RNR1
42 molluscum contagiosum 10.0 GJB2 GJB6 MT-RNR1
43 mitochondrial non-syndromic sensorineural deafness 10.0 DFNB59 GJB2 GJB6 OTOF SLITRK6
44 cockayne syndrome 10.0 GJB2 GJB6 MT-RNR1
45 omenn syndrome 9.9 GJB2 MT-RNR1
46 narcissistic personality disorder 9.9 GJB2 GJB6 MT-RNR1 OTOF
47 obesity susceptibility, adrb3-related 9.8 DFNB59 GJB2 GJB6 MT-RNR1 OTOF
48 x-linked nonsyndromic deafness 9.8 DFNB59 GJB2 GJB6 MT-RNR1 OTOF
49 ataxia 9.7
50 neuronitis 9.7

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 9.56 DFNB59 GJB2 GJB6 GSC OPA1 OTOF
2 integument MP:0010771 9.17 SLC52A2 AIFM1 GJB2 GJB6 GRIA3 GSC

Drugs & Therapeutics for Auditory Neuropathy

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

(show all 15)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 3 64-17-5 702
2 Peppermint oil Phase 3
3 Peppermint Nutraceutical Phase 3
4
Menthol Approved Phase 2 2216-51-5 16666
5
Pregabalin Approved, Illicit, Investigational Phase 2 148553-50-8 5486971
6 Analgesics Phase 2
7 calcium channel blockers Phase 2
8 Tranquilizing Agents Phase 2
9 Peripheral Nervous System Agents Phase 2
10 Anti-Anxiety Agents Phase 2
11 Anticonvulsants Phase 2
12 Psychotropic Drugs Phase 2
13 Calcium, Dietary Phase 2
14 Central Nervous System Depressants Phase 2
15
Oxaliplatin Approved, Investigational 61825-94-3 5310940 9887054 6857599, 9887054 43805

Interventional clinical trials:


id Name Status NCT ID Phase
1 A Study of Sativex® for Relief of Peripheral Neuropathic Pain Associated With Allodynia. Completed NCT00711880 Phase 3
2 Using Game-based Exercise to Improve Balance in Cancer Patients Recruiting NCT02773329 Phase 2
3 Interest of Pregabalin (Lyrica) on the Treatment of Reflex Earache in Head and Neck Cancer. Recruiting NCT02924675 Phase 2
4 Auditory Neuropathy and Cochlear Implants Completed NCT01023932
5 Hearing Loss and Dizziness in Patients Receiving Oxaliplatin for Solid Tumors Completed NCT00305799
6 Diabetes Foot Care Clinical Pathway - Orpyx Medical Technologies Recruiting NCT02994966
7 Photobiomodulation Therapy Using the Realief Therapy System for the Treatment of Chemotherapy-associated Peripheral Neuropathy Active, not recruiting NCT02000908
8 Follow-up Survey of Patients Who Were Treated for Medulloblastoma or Primitive Neuroectodermal Tumors of the Central Nervous in Norway Enrolling by invitation NCT02851355
9 Auditory Brainstem Implantation in Young Children Suspended NCT01904448
10 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, Bone, Cortex

Publications for Auditory Neuropathy

Articles related to Auditory Neuropathy:

(show top 50) (show all 317)
id Title Authors Year
1
Chronic encephalopathy with ataxia, myoclonus, and auditory neuropathy: A case of bismuth poisoning. ( 28084272 )
2017
2
Gender Differences in Audiological Findings and Hearing Aid Benefit in 255 Individuals with Auditory Neuropathy Spectrum Disorder: A Retrospective Study. ( 27885979 )
2016
3
Auditory neuropathy - neural and synaptic mechanisms. ( 26891769 )
2016
4
A novel missense mutation in the C2C domain of otoferlin causes profound hearing impairment in an Omani family with auditory neuropathy. ( 27652356 )
2016
5
Remodeling of the Inner Hair Cell Microtubule Meshwork in a Mouse Model of Auditory Neuropathy AUNA1. ( 28058271 )
2016
6
Audiological Profile of Adult Persons with Auditory Neuropathy Spectrum Disorders. ( 27942602 )
2016
7
The Relative Contributions of Temporal Envelope and Fine Structure to Mandarin Lexical Tone Perception in Auditory Neuropathy Spectrum Disorder. ( 27080664 )
2016
8
Temperature sensitive auditory neuropathy. ( 26778470 )
2016
9
Photobiomodulation by laser therapy rescued auditory neuropathy induced by ouabain. ( 27666974 )
2016
10
Evaluation of Depression, Anxiety, and Stress in Adolescents and Young Adults with Auditory Neuropathy Spectrum Disorder. ( 27579218 )
2016
11
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
12
Prevalence and Audiological Characteristics of Auditory Neuropathy Spectrum Disorder in Pediatric Population: A Retrospective Study. ( 27340636 )
2016
13
Performance of Cochlear Implants in Pediatric Patients with Auditory Neuropathy Spectrum Disorder. ( 27340976 )
2016
14
Unbound Bilirubin and Auditory Neuropathy Spectrum Disorder in Late Preterm and Term Infants with Severe Jaundice. ( 26952116 )
2016
15
Auditory neuropathy spectrum disorder (ANSD) in referrals from neonatal hearing screening at a well-baby clinic. ( 27220871 )
2016
16
Autosomal dominant auditory neuropathy and variant DIAPH3 (c.-173C>T). ( 27658576 )
2016
17
Performance-Intensity Function and Aided Improvement in Individuals With Late-Onset Auditory Neuropathy Spectrum Disorder. ( 27755139 )
2016
18
Molecular study of patients with auditory neuropathy. ( 27177047 )
2016
19
High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder. ( 26818607 )
2016
20
Study of cochlear microphonic potentials in auditory neuropathy. ( 27177976 )
2016
21
Diverse etiologies manifesting auditory neuropathy characteristics from infants with profound hearing loss and clinical implications. ( 27260582 )
2016
22
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
23
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
24
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
25
Relationship Between Patients with Clinical Auditory Neuropathy Spectrum Disorder and Mutations in Gjb2 Gene. ( 27843504 )
2016
26
Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency. ( 26918385 )
2016
27
Understanding auditory neuropathy spectrum disorder: a systematic review in transgenic mouse models. ( 26783139 )
2016
28
Speech perception in users of hearing aid with auditory neuropathy spectrum disorder. ( 27074185 )
2016
29
Auditory Neuropathy/Dyssynchrony in Biotinidase Deficiency. ( 27144235 )
2016
30
Refinement of Molecular Diagnostic Protocol of Auditory Neuropathy Spectrum Disorder: Disclosure of Significant Level of Etiologic Homogeneity in Koreans and Its Clinical Implications. ( 26632695 )
2015
31
Saccular dysfunction in children with sensorineural hearing loss and auditory neuropathy/auditory dys-synchrony. ( 26246016 )
2015
32
Auditory neuropathy spectrum disorder with Brown-Vialetto-Van Laere syndrome: challenges in hearing rehabilitation. ( 25994385 )
2015
33
Determination of benefits of cochlear implantation in children with auditory neuropathy. ( 26010832 )
2015
34
Parents' perspectives on the dilemmas with intervention for infants with auditory neuropathy spectrum disorder: A qualitative study. ( 25826252 )
2015
35
Temporal Response Properties of the Auditory Nerve in Implanted Children with Auditory Neuropathy Spectrum Disorder and Implanted Children with Sensorineural Hearing Loss. ( 26655913 )
2015
36
DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy. ( 25991456 )
2015
37
Perception of Hearing Aid-Processed Speech in Individuals with Late-Onset Auditory Neuropathy Spectrum Disorder. ( 26554487 )
2015
38
Auditory neuropathy/dyssynchrony: a retrospective analysis of 15 cases. ( 25992171 )
2015
39
Performance of hearing skills in children with auditory neuropathy spectrum disorder using cochlear implant: a systematic review. ( 25458263 )
2015
40
Acquired auditory neuropathy spectrum disorder after an attack of chikungunya: case study. ( 25728940 )
2015
41
Neurological associations in auditory neuropathy spectrum disorder: Results from a tertiary hospital in South India. ( 26019414 )
2015
42
Auditory Neuropathy/Dys-Synchrony Disorder: Diagnosis and Management. ( 26296649 )
2015
43
Auditory Neuropathy Spectrum Disorder Masquerading as Social Anxiety. ( 26351622 )
2015
44
Acoustically evoked auditory change complex in children with auditory neuropathy spectrum disorder: a potential objective tool for identifying cochlear implant candidates. ( 25422994 )
2015
45
Pathophysiological mechanisms and functional hearing consequences of auditory neuropathy. ( 26463676 )
2015
46
Prenatal low dosage dioxin (TCDD) exposure impairs cochlear function resulting in auditory neuropathy. ( 26464051 )
2015
47
Auditory nerve disease and auditory neuropathy spectrum disorders. ( 26209259 )
2015
48
Molecular approach of auditory neuropathy. ( 25900720 )
2015
49
Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder. ( 25986071 )
2015
50
Cortical development and neuroplasticity in Auditory Neuropathy Spectrum Disorder. ( 26070426 )
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 sensory perception of sound GO:0007605 9.02 DFNB59 GJB2 GJB6 OTOF SLITRK6
2 response to ischemia GO:0002931 8.96 AIFM1 GJB2

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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