ANSD
MCID: ADT009
MIFTS: 38

Auditory Neuropathy Spectrum Disorder (ANSD)

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

Aliases & Classifications for Auditory Neuropathy Spectrum Disorder

MalaCards integrated aliases for Auditory Neuropathy Spectrum Disorder:

Name: Auditory Neuropathy Spectrum Disorder 53 73
Auditory Neuropathy 53 29 6 73
Auditory Dys-Synchrony 53
Auditory Dyssynchrony 53
Ansd 53

Classifications:



External Ids:

Summaries for Auditory Neuropathy Spectrum Disorder

NIH Rare Diseases : 53 Auditory neuropathy spectrum disorder (ANSD) 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). ANSD 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 ANSD 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, ANSD 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.

MalaCards based summary : Auditory Neuropathy Spectrum Disorder, also known as auditory neuropathy, is related to auditory neuropathy, autosomal dominant, 1 and deafness, autosomal recessive 9. An important gene associated with Auditory Neuropathy Spectrum Disorder is MT-RNR1 (Mitochondrially Encoded 12S RNA), and among its related pathways/superpathways is Apoptosis and Autophagy. Affiliated tissues include brain, testes and bone, and related phenotypes are behavior/neurological and hearing/vestibular/ear

Wikipedia : 76 Auditory neuropathy spectrum disorder (ANSD) is a specific form of hearing loss defined by the presence... more...

Related Diseases for Auditory Neuropathy Spectrum Disorder

Diseases in the Auditory Neuropathy Spectrum Disorder family:

Auditory Neuropathy, Autosomal Dominant, 1

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

(show top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 auditory neuropathy, autosomal dominant, 1 33.8 OTOF PJVK
2 deafness, autosomal recessive 9 32.9 OTOF PJVK
3 deafness, autosomal recessive 59 32.2 OTOF PJVK
4 optic atrophy 7 with or without auditory neuropathy 12.4
5 auditory neuropathy and optic atrophy 12.4
6 deafness, x-linked 5 11.9
7 x-linked hereditary sensory and autonomic neuropathy with deafness 11.1
8 deafness and myopia 11.0
9 spastic paraplegia 29 11.0
10 neuropathy 10.9
11 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
12 sensorineural hearing loss 10.3
13 hyperacusis 10.2
14 anxiety 10.1
15 dfnb1 10.0 MYO7A OTOF
16 deafness, autosomal recessive 2 10.0 MYO7A OTOF
17 deafness, autosomal recessive 16 10.0 MYO7A OTOF
18 deafness, autosomal dominant 6 10.0 MYO7A OTOF
19 deafness, autosomal recessive 30 10.0 MT-RNR1 MYO7A
20 deafness, autosomal dominant 13 10.0 MYO7A OTOF
21 deafness, autosomal recessive 10.0 OTOF PJVK
22 usher syndrome, type iid 9.9 MYO7A OPA1
23 usher syndrome, type iic 9.9 MYO7A OPA1
24 inner ear disease 9.9 MT-RNR1 MYO7A
25 3-methylglutaconic aciduria, type iii 9.9
26 retinitis pigmentosa-deafness syndrome 9.9
27 chikungunya 9.9
28 usher syndrome 9.9
29 brown-vialetto-van laere syndrome 9.9
30 hypomyelinating leukodystrophy 9.9
31 leukodystrophy 9.9
32 astrocytoma 9.9
33 pilocytic astrocytoma 9.9
34 riboflavin transporter deficiency 9.9
35 depression 9.9
36 cochlear nerve deficiency 9.9
37 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.9 MYO7A OTOF
38 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 9.9
39 charcot-marie-tooth disease 9.9
40 sensory peripheral neuropathy 9.9
41 usher syndrome type 2 9.9 MYO7A OPA1
42 deafness, autosomal recessive 85 9.8 MYO7A OTOF PJVK
43 deafness, autosomal recessive 83 9.8 MYO7A OTOF PJVK
44 autosomal recessive nonsyndromic deafness 3 9.8 MYO7A OTOF PJVK
45 branchiootic syndrome 1 9.8 MYO7A OTOF PJVK
46 autosomal dominant nonsyndromic deafness 9.8 MYO7A OTOF PJVK
47 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.8 MYO7A OTOF PJVK
48 scleroderma, familial progressive 9.7
49 friedreich ataxia 1 9.7
50 hemochromatosis, type 1 9.7

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



Diseases related to Auditory Neuropathy Spectrum Disorder

Symptoms & Phenotypes for Auditory Neuropathy Spectrum Disorder

MGI Mouse Phenotypes related to Auditory Neuropathy Spectrum Disorder:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.55 AIFM1 MYO7A OPA1 OTOF PJVK
2 hearing/vestibular/ear MP:0005377 9.26 MYO7A OPA1 OTOF PJVK
3 nervous system MP:0003631 9.02 AIFM1 MYO7A OPA1 OTOF PJVK

Drugs & Therapeutics for Auditory Neuropathy Spectrum Disorder

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Auditory Neuropathy and Cochlear Implants Completed NCT01023932
2 Follow-up Survey of Patients Who Were Treated for Medulloblastoma or Primitive Neuroectodermal Tumors of the Central Nervous in Norway Enrolling by invitation NCT02851355

Search NIH Clinical Center for Auditory Neuropathy Spectrum Disorder

Genetic Tests for Auditory Neuropathy Spectrum Disorder

Genetic tests related to Auditory Neuropathy Spectrum Disorder:

# Genetic test Affiliating Genes
1 Auditory Neuropathy 29

Anatomical Context for Auditory Neuropathy Spectrum Disorder

MalaCards organs/tissues related to Auditory Neuropathy Spectrum Disorder:

41
Brain, Testes, Bone, Cortex

Publications for Auditory Neuropathy Spectrum Disorder

Articles related to Auditory Neuropathy Spectrum Disorder:

(show top 50) (show all 369)
# Title Authors Year
1
Findings from aetiological investigation of Auditory Neuropathy Spectrum Disorder in children referred to cochlear implant programs. ( 30554714 )
2019
2
Cochlear implantation in children with auditory neuropathy: Lessons from Brown-Vialetto-Van Laere syndrome. ( 30332915 )
2019
3
Evaluation of Dizziness Handicap in Adolescents and Adults with Auditory Neuropathy Spectrum Disorder. ( 29371893 )
2018
4
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management. ( 29305691 )
2018
5
Cortical processing of speech in individuals with auditory neuropathy spectrum disorder. ( 29633023 )
2018
6
TMTC2 variant associated with sensorineural hearing loss and auditory neuropathy spectrum disorder in a family dyad. ( 29671961 )
2018
7
Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management. ( 29435658 )
2018
8
Cochlear Nerve Aplasia with Detectable Olivocochlear Efferent Function: A Distinct Presentation of Auditory Neuropathy Spectrum Disorder. ( 29936500 )
2018
9
Cochlear implantation in children with auditory neuropathy spectrum disorder: A multicenter study on auditory performance and speech production outcomes. ( 29605339 )
2018
10
Outcomes of Cochlear Implantation in Auditory Neuropathy Spectrum Disorder and the Role of Cortical Auditory Evoked Potentials in Benefit Evaluation. ( 29988272 )
2018
11
An OTOF Frameshift Variant Associated with Auditory Neuropathy Spectrum Disorder. ( 30065612 )
2018
12
Unilateral Versus Bilateral Cochlear Implantation in Children With Auditory Neuropathy Spectrum Disorder (ANSD). ( 30199499 )
2018
13
Evaluation of saccular and inferior vestibular nerve function in children with auditory neuropathy spectrum disorder. ( 30259131 )
2018
14
Behavioural and Electrophysiological Correlates of Aided Performance in Individuals with Late Onset Auditory Neuropathy Spectrum Disorder: A Review. ( 30269458 )
2018
15
Targeted next generation sequencing reveals OTOF mutations in auditory neuropathy spectrum disorder. ( 30368385 )
2018
16
Measurement of Thresholds Using Auditory Steady-State Response and Cochlear Microphonics in Children with Auditory Neuropathy. ( 30403957 )
2018
17
Elongated EABR wave latencies observed in patients with auditory neuropathy caused by OTOF mutation. ( 30410993 )
2018
18
Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics. ( 30482216 )
2018
19
Dynamics of Speech Perception in the Auditory-Visual Mode: An Empirical Evidence for the Management of Auditory Neuropathy Spectrum Disorders. ( 29969891 )
2018
20
Deterioration in Distortion Product Otoacoustic Emissions in Auditory Neuropathy Patients With Distinct Clinical and Genetic Backgrounds. ( 29688962 )
2018
21
A Case of Auditory Neuropathy Caused by Pontine Hemorrhage in an Adult. ( 28704898 )
2017
22
Auditory Performance and Electrical Stimulation Measures in Cochlear Implant Recipients With Auditory Neuropathy Compared With Severe to Profound Sensorineural Hearing Loss. ( 28225734 )
2017
23
Clinical role of electrocochleography in children with auditory neuropathy spectrum disorder. ( 28688553 )
2017
24
Chronic encephalopathy with ataxia, myoclonus, and auditory neuropathy: A case of bismuth poisoning. ( 28084272 )
2017
25
Timing of cochlear implantation in auditory neuropathy patients with OTOF mutations: Our experience with 10 patients. ( 28766844 )
2017
26
Deep band modulated phrase perception in quiet and noise in individuals with auditory neuropathy spectrum disorder and sensorineural hearing loss. ( 28816204 )
2017
27
Modiolar ossification in paediatric patients with auditory neuropathy. ( 28502273 )
2017
28
Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder. ( 28335750 )
2017
29
Intraoperative Electrocochleographic Characteristics of Auditory Neuropathy Spectrum Disorder in Cochlear Implant Subjects. ( 28769753 )
2017
30
Auditory Neuropathy after Damage to Cochlear Spiral Ganglion Neurons in Mice Resulting from Conditional Expression of Diphtheria Toxin Receptors. ( 28743950 )
2017
31
Effectiveness of Low Cut Modified Amplification using Receiver in the Canal Hearing Aid in Individuals with Auditory Neuropathy Spectrum Disorder. ( 28680492 )
2017
32
AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance. ( 28601886 )
2017
33
Evaluation of Hearing Handicap in Adults with Auditory Neuropathy Spectrum Disorder. ( 28816694 )
2017
34
Prevalence of vestibular symptoms in individuals with auditory neuropathy spectrum disorder - A retrospective study. ( 28357181 )
2017
35
A homozygous MYO7A mutation associated to Usher syndrome and unilateral auditory neuropathy spectrum disorder. ( 28731162 )
2017
36
Effectiveness of low-cut modified amplification strategy and channel-free hearing aid in individuals with auditory neuropathy spectrum disorder. ( 28485679 )
2017
37
The management of pediatric hearing loss caused by auditory neuropathy spectrum disorder. ( 28708635 )
2017
38
Speech Perception in Quiet and in Noise Condition in Individuals with Auditory Neuropathy Spectrum Disorder. ( 28555599 )
2017
39
A case of auditory neuropathy revealed by OTOF gene mutation analysis in a junior high school girl. ( 29937857 )
2017
40
Clinical relationship between auditory neuropathy and nervous system diseases. ( 29492085 )
2017
41
ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy. ( 29184165 )
2017
42
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
43
Remodeling of the Inner Hair Cell Microtubule Meshwork in a Mouse Model of Auditory Neuropathy AUNA1. ( 28058271 )
2016
44
Photobiomodulation by laser therapy rescued auditory neuropathy induced by ouabain. ( 27666974 )
2016
45
Study of cochlear microphonic potentials in auditory neuropathy. ( 27177976 )
2016
46
High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder. ( 26818607 )
2016
47
Auditory neuropathy - neural and synaptic mechanisms. ( 26891769 )
2016
48
Performance-Intensity Function and Aided Improvement in Individuals With Late-Onset Auditory Neuropathy Spectrum Disorder. ( 27755139 )
2016
49
Speech perception in users of hearing aid with auditory neuropathy spectrum disorder. ( 27074185 )
2016
50
Temperature sensitive auditory neuropathy. ( 26778470 )
2016

Variations for Auditory Neuropathy Spectrum Disorder

ClinVar genetic disease variations for Auditory Neuropathy Spectrum Disorder:

6
# 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
2 MT-RNR1 m.1095T> C single nucleotide variant drug response rs267606618 GRCh38 Chromosome MT, 1095: 1095

Expression for Auditory Neuropathy Spectrum Disorder

Search GEO for disease gene expression data for Auditory Neuropathy Spectrum Disorder.

Pathways for Auditory Neuropathy Spectrum Disorder

Pathways related to Auditory Neuropathy Spectrum Disorder according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.89 AIFM1 OPA1

GO Terms for Auditory Neuropathy Spectrum Disorder

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial intermembrane space GO:0005758 8.62 AIFM1 OPA1

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

# Name GO ID Score Top Affiliating Genes
1 membrane fusion GO:0061025 8.96 OPA1 OTOF
2 sensory perception of sound GO:0007605 8.8 MYO7A OTOF PJVK

Sources for Auditory Neuropathy Spectrum Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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