ANSD
MCID: ADT009
MIFTS: 34

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 20 70
Auditory Neuropathy 20 36 29 6 70
Auditory Dys-Synchrony 20
Auditory Dyssynchrony 20
Ansd 20

Classifications:



External Ids:

KEGG 36 H02339
UMLS 70 C1852271 C2732267

Summaries for Auditory Neuropathy Spectrum Disorder

GARD : 20 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 charcot-marie-tooth disease, x-linked recessive, 4, with or without cerebellar ataxia. An important gene associated with Auditory Neuropathy Spectrum Disorder is MT-RNR1 (Mitochondrially Encoded 12S RRNA). Affiliated tissues include cortex, bone marrow and brain, and related phenotypes are hearing/vestibular/ear and nervous system

KEGG : 36 Auditory neuropathy is a rare form of deafness characterized by an absent or abnormal auditory brainstem response with preservation of outer hair cell function. DIAPH3 has been identified as the gene responsible for autosomal dominant nonsyndromic auditory neuropathy. Recently, it has been reported that an autosomal recessive auditory neuropathy and optic atrophy (ANOA) is caused by mutations in the FDXR gene.

Wikipedia : 73 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 164)
# Related Disease Score Top Affiliating Genes
1 auditory neuropathy, autosomal dominant, 1 32.6 PJVK OTOF
2 charcot-marie-tooth disease, x-linked recessive, 4, with or without cerebellar ataxia 31.5 RAB33A AIFM1
3 branchiootic syndrome 1 30.5 PJVK OTOF MYO7A
4 dfnb1 30.0 OTOF MYO7A
5 deafness, autosomal recessive 59 30.0 PJVK OTOF
6 hypomyelinating leukodystrophy 29.8 RAB33A AIFM1
7 rare genetic deafness 29.8 PJVK OTOF MYO7A MT-RNR1
8 deafness, autosomal recessive 9 29.8 PJVK OTOF MYO7A
9 nonsyndromic hearing loss 29.7 PJVK OTOF MYO7A
10 usher syndrome, type iia 29.7 OTOF MYO7A
11 sensorineural hearing loss 29.6 RAB33A OTOF OPA1 MYO7A MT-RNR1 AIFM1
12 pendred syndrome 29.5 OTOF MYO7A MT-RNR1
13 peripheral nervous system disease 29.5 OTOF OPA1 NFASC
14 waardenburg's syndrome 29.5 OTOF MYO7A MT-RNR1
15 deafness, autosomal recessive 1a 29.4 PJVK OTOF MYO7A
16 neuropathy 29.4 RAB33A PJVK OTOF OPA1 NFASC MT-RNR1
17 usher syndrome, type i 29.3 PJVK OTOF MYO7A MT-RNR1
18 usher syndrome 29.3 PJVK OTOF MYO7A MT-RNR1
19 otosclerosis 29.3 PJVK OTOF MT-RNR1
20 deafness, x-linked 5, with peripheral neuropathy 29.2 RAB33A PJVK OTOF AIFM1
21 auditory system disease 29.0 PJVK OTOF MYO7A MT-RNR1
22 autosomal dominant nonsyndromic deafness 29.0 PJVK OTOF MYO7A MT-RNR1
23 auditory neuropathy and optic atrophy 11.6
24 optic atrophy 7 with or without auditory neuropathy 11.5
25 mohr-tranebjaerg syndrome 11.1
26 x-linked hereditary sensory and autonomic neuropathy with deafness 11.1
27 combined oxidative phosphorylation deficiency 24 11.0
28 spastic paraplegia 29 11.0
29 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.8
30 cochlear nerve deficiency 10.5
31 bilirubin metabolic disorder 10.4
32 otof-related deafness 10.3
33 charcot-marie-tooth disease 10.2
34 3-methylglutaconic aciduria, type iii 10.2
35 ataxia and polyneuropathy, adult-onset 10.2
36 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss 10.2
37 anxiety 10.2
38 human immunodeficiency virus type 1 10.2
39 brown-vialetto-van laere syndrome 10.2
40 nonsyndromic deafness 10.2
41 anoxia 10.2
42 hyperacusis 10.1
43 tooth disease 10.1
44 deafness, autosomal recessive 8 10.1 PJVK OTOF
45 deafness, autosomal dominant 25 10.1 OTOF MYO7A
46 deafness, autosomal recessive 85 10.0 PJVK OTOF
47 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 10.0
48 polyneuropathy 10.0
49 sotos syndrome 1 10.0
50 glioma susceptibility 1 10.0

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 hearing/vestibular/ear MP:0005377 9.26 MYO7A OPA1 OTOF PJVK
2 nervous system MP:0003631 9.1 AIFM1 MYO7A NFASC OPA1 OTOF PJVK

Drugs & Therapeutics for Auditory Neuropathy Spectrum Disorder

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cochlear Implants in Children With Auditory Neuropathy/ Auditory Dys-Synchrony Completed NCT01023932
2 Developing a Postpartum Depression Predicting Tool, During the Third Trimester of Pregnancy Completed NCT03791021
3 Evaluation of a Cohort of Congenital Deep Deafness Patients and/or With Auditory Neuropathy, Looking for DFNB9 Recruiting NCT04202185

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:

40
Cortex, Bone Marrow, Brain

Publications for Auditory Neuropathy Spectrum Disorder

Articles related to Auditory Neuropathy Spectrum Disorder:

(show top 50) (show all 799)
# Title Authors PMID Year
1
Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation. 6 61
15637703 2005
2
Auditory neuropathy spectrum disorder (ANSD) and cochlear implantation. 20 61
26545793 2015
3
Co-segregation of the T1095C with the A1555G mutation of the mitochondrial 12S rRNA gene in a patient with non-syndromic hearing loss. 6
18983818 2008
4
A reappraisal of complete mtDNA variation in East Asian families with hearing impairment. 6
16528519 2006
5
Clinical evaluation and sequence analysis of the complete mitochondrial genome of three Chinese patients with hearing impairment associated with the 12S rRNA T1095C mutation. 6
15555598 2004
6
Maternally inherited deafness associated with a T1095C mutation in the mDNA. 6
11313749 2001
7
A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy. 6
11079536 2000
8
Cochlear implantation in patient with Charcot-Marie-Tooth disease. 61
32265048 2021
9
Electrocochleography Observations in a Series of Cochlear Implant Electrode Tip Fold-Overs. 61
33196531 2021
10
Access to the Apical Cochlear Modiolus for Possible Stem Cell-based and Gene Therapy of the Auditory Nerve. 61
33165157 2021
11
Identification of Perinatal Risk Factors for Auditory Neuropathy Spectrum Disorder. 61
32609896 2021
12
Hearing screening in neonates with hyperbilirubinemia. 61
33360868 2021
13
Cortical Neurophysiologic Correlates of Auditory Threshold in Adults and Children With Normal Hearing and Auditory Neuropathy Spectrum Disorder. 61
33264574 2021
14
Charcot-Marie-Tooth Disease With Long-Term Follow-Up on Auditory Neuropathy-After Cochlear Implantation Or Hearing Aid Use. 61
33625198 2021
15
An antibody to RGMa promotes regeneration of cochlear synapses after noise exposure. 61
33536466 2021
16
[Childhood hearing screening: achievements, difficulties, and possible ways to improve]. 61
33720658 2021
17
Contrasting mechanisms for hidden hearing loss: Synaptopathy vs myelin defects. 61
33481777 2021
18
EABR measurements during cochlear implantation in one-year-old, infant, child, adult, and elderly patients. 61
33146057 2021
19
Case studies in neuroscience: cortical contributions to the frequency-following response depend on subcortical synchrony. 61
33206575 2021
20
Cochlear Implantation Outcomes in Post Synaptic Auditory Neuropathies: A Systematic Review and Narrative Synthesis. 61
33136025 2020
21
Rare Causes of Unilateral Sensorineural Hearing Loss in Adults: Our Experience. 61
33088770 2020
22
Acoustical and Perceptual Analysis of Noise Reduction Strategies in Individuals With Auditory Neuropathy Spectrum Disorders. 61
33175645 2020
23
Fiber-Specific Changes in White Matter Microstructure in Individuals With X-Linked Auditory Neuropathy. 61
33136644 2020
24
The association between consanguineous marriage and offspring with congenital hearing loss. 61
33307738 2020
25
Neural representation of consonant-vowel transition in individuals with cochlear hearing loss and auditory neuropathy spectrum disorder. 61
32377854 2020
26
Etiological Work-up in Referrals From Neonatal Hearing Screening: 20 Years of Experience. 61
32925850 2020
27
Profile of childhood hearing loss in the Western Cape, South Africa. 61
32658802 2020
28
Effect of Quiet and Noise on P300 Response in Individuals with Auditory Neuropathy Spectrum Disorder. 61
33101512 2020
29
Does riboflavin depletion cause auditory neuropathy spectrum disorder in at risk neonates? 61
32896351 2020
30
Postoperative Intracochlear Electrocochleography in Pediatric Cochlear Implant Recipients: Association to Audiometric Thresholds and Auditory Performance. 61
31977726 2020
31
Utility of Acoustic Change Complex as an Objective Tool to Evaluate Difference Limen for Intensity in Cochlear Hearing Loss and Auditory Neuropathy Spectrum Disorder. 61
32628503 2020
32
Flexible Real-Time Polymerase Chain Reaction-Based Platforms for Detecting Deafness Mutations in Koreans: A Proposed Guideline for the Etiologic Diagnosis of Auditory Neuropathy Spectrum Disorder. 61
32899707 2020
33
Etiological Work-up in Referrals From Neonatal Hearing Screening: 20 Years of Experience. 61
32769956 2020
34
The limitation of risk factors as a means of prognostication in auditory neuropathy spectrum disorder of perinatal onset. 61
32502912 2020
35
Effect of Rutin on Diabetic Auditory Neuropathy in an Experimental Rat Model. 61
32764214 2020
36
Vestibular dysfunction in patients with auditory neuropathy detected by vestibular evoked myogenic potentials. 61
32089450 2020
37
Getting the balance right in auditory neuropathy. 61
32327271 2020
38
Can Differences in Early Hearing Development Be Distinguished by the LittlEARs Auditory Questionnaire? 61
31923042 2020
39
Acquired auditory neuropathy spectrum disorder after malaria treated with quinine. 61
32290759 2020
40
SPTBN4 Disorder 61
32672909 2020
41
Etiology of newborn hearing impairment in Guangdong province: 10-year experience with screening, diagnosis, and follow-up. 61
31912317 2020
42
A novel variant in diaphanous homolog 1 (DIAPH1) as the cause of auditory neuropathy in a Chinese family. 61
32087478 2020
43
Impact of Universal Newborn Hearing Screening on cochlear implanted children in Ireland. 61
32179204 2020
44
An integrative approach for pediatric auditory neuropathy spectrum disorders: revisiting etiologies and exploring the prognostic utility of auditory steady-state response. 61
32555439 2020
45
The characteristics of monosyllable recognition in Mandarin-speaking patients with auditory neuropathy. 61
32069140 2020
46
Fiber-Specific Changes in White Matter Microstructure in Individuals With X-Linked Auditory Neuropathy. 61
32590630 2020
47
Long-term Follow-up of a Patient With Auditory Neuropathy and Normal Hearing Thresholds. 61
32163113 2020
48
Long-term treatment outcomes in children with auditory neuropathy spectrum disorder (ANSD). 61
32062495 2020
49
Otoferlin gene editing in sheep via CRISPR-assisted ssODN-mediated Homology Directed Repair. 61
32265471 2020
50
AIF knockdown induce apoptosis and mitochondrial dysfunction in cochlear spiral ganglion neurons in vitro. 61
32319616 2020

Variations for Auditory Neuropathy Spectrum Disorder

ClinVar genetic disease variations for Auditory Neuropathy Spectrum Disorder:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MT-RNR1 m.1095T>C SNV Pathogenic 9631 rs267606618 GRCh37: MT:1095-1095
GRCh38: 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

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 8.96 OPA1 AIFM1
2 stereocilium base GO:0120044 8.62 PJVK MYO7A

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 OTOF OPA1
2 sensory perception of sound GO:0007605 8.8 PJVK OTOF MYO7A

Sources for Auditory Neuropathy Spectrum Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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