MCID: ADT004
MIFTS: 33

Auditory Neuropathy malady

Neuronal category

Summaries for Auditory Neuropathy

Sources:
64Wikipedia, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Wikipedia:64 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 sensorineural hearing loss and auditory neuropathy, autosomal dominant, 1. An important gene associated with Auditory Neuropathy is DIAPH3 (diaphanous-related formin 3), and among its related pathways are Gap junction trafficking and Membrane Trafficking. The compounds 10panx and scrambled 10panx have been mentioned in the context of this disorder. Affiliated tissues include brain, bone marrow and cortex, and related mouse phenotypes are hearing/vestibular/ear and nervous system.

Aliases & Classifications for Auditory Neuropathy

Sources:
43NIH Rare Diseases, 61UMLS
See all sources

Classifications:

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


Aliases & Descriptions:

auditory neuropathy 43 61
auditory dys-synchrony 43


Related Diseases for Auditory Neuropathy

Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to auditory neuropathy

Clinical Features for Auditory Neuropathy

Drugs & Therapeutics for Auditory Neuropathy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Auditory Neuropathy

Drug clinical trials:

Search ClinicalTrials for Auditory Neuropathy

Search NIH Clinical Center for Auditory Neuropathy

Search CenterWatch for Auditory Neuropathy

Genetic Tests for Auditory Neuropathy

Anatomical Context for Auditory Neuropathy

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Auditory Neuropathy:

33
Brain, Bone marrow, Cortex

Animal Models for Auditory Neuropathy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Auditory Neuropathy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.8GSC, OTOF, GJB2, GJB6, DFNB59
2MP:00036318.3MPZ, GRIA3, GJB6, GJB2, OTOF, GSC

Publications for Auditory Neuropathy

Sources:
51PubMed
See all sources

Articles related to Auditory Neuropathy:

(show top 50)    (show all 247)
idTitleAuthorsYear
1
Speech and language outcomes of cochlear implantation in children with isolated auditory neuropathy versus cochlear hearing loss. (24232062)
2013
2
Involvement of peripheral vestibular nerve in individuals with auditory neuropathy. (23143643)
2013
3
Vestibular test findings in individuals with auditory neuropathy: review. (23521835)
2013
4
Outcomes of cochlear implantation in children with isolated auditory neuropathy versus cochlear hearing loss. (23478650)
2013
5
Impact of the presence of auditory neuropathy spectrum disorder (ANSD) on outcomes of children at three years of age. (24350696)
2013
6
Masking effects in patients with auditory neuropathy-possible involvement of suppression mechanism caused by normal outer hair cell function. (23739557)
2013
7
A homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans. (23946138)
2013
8
Auditory evoked magnetic fields in patients with absent brainstem responses due to auditory neuropathy with optic atrophy. (22119798)
2012
9
Unilateral auditory neuropathy spectrum disorder. (22073929)
2012
10
Bilirubin induces auditory neuropathy in neonatal guinea pigs via auditory nerve fiber damage. (22847875)
2012
11
Perception of temporally modified speech in auditory neuropathy. (21047293)
2011
12
Clinical Application of the P1 Cortical Auditory Evoked Potential Biomarker in Children with Sensorineural Hearing Loss and Auditory Neuropathy Spectrum Disorder. (24078765)
2011
13
Otological diagnoses and probable age-related auditory neuropathy in "younger" and "older" elderly persons. (21812636)
2011
14
Rate of neural recovery in implanted children with auditory neuropathy spectrum disorder. (21493430)
2011
15
Auditory neuropathy associated with postnatally acquired cytomegalovirus infection in a very preterm infant. (22789691)
2010
16
Auditory steady state response in auditory neuropathy. (20388244)
2010
17
Are serum levels of trace elements in children with auditory neuropathy within normal limits? - A pilot study. (20519093)
2010
18
Brain stem and inner ear abnormalities in children with auditory neuropathy spectrum disorder and cochlear nerve deficiency. (20595372)
2010
19
Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy. (20405026)
2010
20
Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy. (20504331)
2010
21
Auditory neuropathy in a patient exposed to xylene: case report. (18439334)
2009
22
Prevalence of auditory neuropathy (AN) among infants and young children with severe to profound hearing loss. (19409623)
2009
23
Auditory neuropathy: unexpectedly common in a screened newborn population. (19416324)
2009
24
The SP-AP compound wave in patients with auditory neuropathy. (18612852)
2008
25
Incidence of auditory neuropathy among the deaf school students. (18486242)
2008
26
Coffee improves auditory neuropathy in diabetic mice. (18586072)
2008
27
Speech perception in children with auditory neuropathy/dyssynchrony managed with either hearing AIDS or cochlear implants. (18165792)
2008
28
Auditory neuropathy: an update. (17496659)
2007
29
Multiple auditory steady-state responses in children and adults with normal hearing, sensorineural hearing loss, or auditory neuropathy. (16676823)
2006
30
Auditory neuropathy due to the Q829X mutation in the gene encoding otoferlin (OTOF) in an infant screened for newborn hearing impairment]. (17036997)
2006
31
Deletion of SLC19A2, the high affinity thiamine transporter, causes selective inner hair cell loss and an auditory neuropathy phenotype. (16642288)
2006
32
Auditory neuropathy in children: diagnostic criteria and audiological test results. (16340284)
2005
33
The jaundiced gunn rat model of auditory neuropathy/dyssynchrony. (16369161)
2005
34
Absent or elevated middle ear muscle reflexes in the presence of normal otoacoustic emissions: a universal finding in 136 cases of auditory neuropathy/dys-synchrony. (16295241)
2005
35
Cochlear implantation in a Mandarin Chinese-speaking child with auditory neuropathy. (14999509)
2005
36
Auditory neuropathy detected by universal newborn hearing screening. (18792302)
2004
37
Characteristics of electrically evoked potentials in patients with auditory neuropathy/auditory dys-synchrony. (15732378)
2004
38
Delayed visual maturation associated with auditory neuropathy/dyssynchrony. (12822822)
2003
39
Auditory neuropathy in siblings with Waardenburg's syndrome. (14550970)
2003
40
Auditory neuropathy/dys-synchrony: diagnosis and management. (14648814)
2003
41
Pathology and physiology of auditory neuropathy with a novel mutation in the MPZ gene (Tyr145->Ser). (12805115)
2003
42
Word recognition and the articulation index in older listeners with probable age-related auditory neuropathy. (14748554)
2003
43
Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment. (11309368)
2001
44
Consequences of neural asynchrony: a case of auditory neuropathy. (11548236)
2000
45
Hereditary motor and sensory neuropathy associated with auditory neuropathy in a Gypsy family. (10653194)
2000
46
The varieties of auditory neuropathy. (11041385)
2000
47
Clinical findings for a group of infants and young children with auditory neuropathy. (10386850)
1999
48
Cochlear implantation in auditory neuropathy. (10890762)
1999
49
An animal model of auditory neuropathy. (9796644)
1998
50
Reversing click polarity may uncover auditory neuropathy in infants. (9504271)
1998

Genetic Variations for Auditory Neuropathy

Expression for genes affiliated with Auditory Neuropathy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Auditory Neuropathy

Search GEO for disease gene expression data for Auditory Neuropathy.

Pathways for genes affiliated with Auditory Neuropathy

Sources:
54Reactome
See all sources

Pathways related to Auditory Neuropathy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.9GJB2, GJB6
29.4GJB2, GJB6, PICALM

Compounds for genes affiliated with Auditory Neuropathy

Sources:
60Tocris Bioscience, 29IUPHAR, 24HMDB, 45Novoseek, 2BitterDB, 11DrugBank
See all sources

Compounds related to Auditory Neuropathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
110panx6010.0GJB2, GJB6
2scrambled 10panx6010.0GJB2, GJB6
3carbenoxolone disodium6010.0GJB2, GJB6
4gap 27609.9GJB2, GJB6
5octanol29 2410.9GJB6, GJB2
6flufenamic acid45 29 2 1112.9GJB2, GJB6
7carbenoxolone29 45 1111.8GJB2, GJB6
8ca2+299.6GJB2, GJB6

GO Terms for genes affiliated with Auditory Neuropathy

Sources:
16Gene Ontology
See all sources

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:0076059.4OTOF, GJB2, GJB6, DFNB59

Products for genes affiliated with Auditory Neuropathy

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Auditory Neuropathy

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet