MCID: ADT007
MIFTS: 28

Auditory Neuropathy, Autosomal Dominant, 1

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

Aliases & Classifications for Auditory Neuropathy, Autosomal Dominant, 1

MalaCards integrated aliases for Auditory Neuropathy, Autosomal Dominant, 1:

Name: Auditory Neuropathy, Autosomal Dominant, 1 57 75 29 13 6 40 73
Auna1 57 12 75
Nsdan 57 12 75
Autosomal Dominant Auditory Neuropathy 1 12 15
Nonsyndromic Auditory Neuropathy Autosomal Dominant 75
Auditory Neuropathy, Nonsyndromic Dominant; Nsdan 57
Auditory Neuropathy, Nonsyndromic Dominant 57
Nonsyndromic Dominant Auditory Neuropathy 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
approximately one-third of patients eventually lose outer hair cell function and have profound sensorineural deafness (after 10 to 20 years)
average age at onset 18.6 years


HPO:

32
auditory neuropathy, autosomal dominant, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 609129
Disease Ontology 12 DOID:0060690
ICD10 33 H90.3
MedGen 42 C1836743
MeSH 44 D006319
SNOMED-CT via HPO 69 263681008 60700002 102971006
UMLS 73 C1836743

Summaries for Auditory Neuropathy, Autosomal Dominant, 1

OMIM : 57 Auditory neuropathy is a type of hearing loss defined by the preservation of cochlear outer hair cell function and abnormal or absent auditory brainstem responses. Auditory neuropathy may accompany peripheral neuropathy in a variety of dominant syndromes such as Charcot-Marie-Tooth disease (Satya-Murti et al., 1979) and has been observed in Friedreich ataxia (Satya-Murti et al., 1980). Auditory neuropathy unassociated with peripheral neuropathy most commonly occurs as a sporadic or recessive trait; see, for example, 601071. (609129)

MalaCards based summary : Auditory Neuropathy, Autosomal Dominant, 1, also known as auna1, is related to auditory neuropathy spectrum disorder and neuropathy. An important gene associated with Auditory Neuropathy, Autosomal Dominant, 1 is DIAPH3 (Diaphanous Related Formin 3). Related phenotypes are sensorineural hearing impairment and abnormal speech discrimination

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that has material basis in heterozygous mutation in the DIAPH3 gene on chromosome 13q.

UniProtKB/Swiss-Prot : 75 Auditory neuropathy, autosomal dominant, 1: A form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem.

Related Diseases for Auditory Neuropathy, Autosomal Dominant, 1

Diseases in the Auditory Neuropathy Spectrum Disorder family:

Auditory Neuropathy, Autosomal Dominant, 1

Diseases related to Auditory Neuropathy, Autosomal Dominant, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
# Related Disease Score Top Affiliating Genes
1 auditory neuropathy spectrum disorder 30.5 OTOF PJVK
2 neuropathy 10.2
3 deafness, autosomal recessive 85 10.1 OTOF PJVK
4 deafness, autosomal recessive 83 10.1 OTOF PJVK
5 dfnb1 9.7 GJB2 OTOF
6 deafness, autosomal recessive 1a 9.7 GJB2 OTOF
7 deafness, autosomal recessive 2 9.7 GJB2 OTOF
8 deafness, autosomal recessive 26 9.7 GJB2 OTOF
9 deafness, autosomal recessive 67 9.7 GJB2 PJVK
10 autosomal dominant non-syndromic sensorineural deafness type dfna 9.6 DIAPH3 GJB2
11 deafness, autosomal recessive 16 9.6 GJB2 OTOF
12 autosomal recessive nonsyndromic deafness 9.6 GJB2 OTOF
13 deafness, autosomal dominant 6 9.5 GJB2 OTOF
14 deafness, autosomal dominant 13 9.4 GJB2 OTOF
15 auditory system disease 9.3 GJB2 OTOF
16 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.2 GJB2 OTOF
17 deafness, autosomal recessive 9 9.2 GJB2 OTOF PJVK
18 autosomal recessive nonsyndromic deafness 3 9.2 GJB2 OTOF PJVK
19 non-syndromic genetic deafness 9.2 GJB2 OTOF PJVK
20 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.2 GJB2 OTOF PJVK
21 deafness, autosomal recessive 9.2 GJB2 OTOF PJVK
22 nonsyndromic deafness 9.2 GJB2 OTOF PJVK
23 sensorineural hearing loss 9.0 GJB2 OTOF
24 deafness, autosomal recessive 59 8.8 DIAPH3 GJB2 OTOF PJVK
25 autosomal dominant nonsyndromic deafness 8.7 DIAPH3 GJB2 OTOF PJVK

Graphical network of the top 20 diseases related to Auditory Neuropathy, Autosomal Dominant, 1:



Diseases related to Auditory Neuropathy, Autosomal Dominant, 1

Symptoms & Phenotypes for Auditory Neuropathy, Autosomal Dominant, 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, neural type
abnormal or absent auditory nerve and brainstem responses
absent middle ear reflexes
abnormal auditory temporal processes
abnormal gap detection
more

Clinical features from OMIM:

609129

Human phenotypes related to Auditory Neuropathy, Autosomal Dominant, 1:

32
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 abnormal speech discrimination 32 HP:0001963
3 abnormal auditory evoked potentials 32 HP:0006958
4 absence of acoustic reflex 32 HP:0008529

MGI Mouse Phenotypes related to Auditory Neuropathy, Autosomal Dominant, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.13 GJB2 OTOF PJVK
2 no phenotypic analysis MP:0003012 8.92 DIAPH3 FMN1 GJB2 OTOF

Drugs & Therapeutics for Auditory Neuropathy, Autosomal Dominant, 1

Search Clinical Trials , NIH Clinical Center for Auditory Neuropathy, Autosomal Dominant, 1

Genetic Tests for Auditory Neuropathy, Autosomal Dominant, 1

Genetic tests related to Auditory Neuropathy, Autosomal Dominant, 1:

# Genetic test Affiliating Genes
1 Auditory Neuropathy, Autosomal Dominant, 1 29 DIAPH3

Anatomical Context for Auditory Neuropathy, Autosomal Dominant, 1

Publications for Auditory Neuropathy, Autosomal Dominant, 1

Variations for Auditory Neuropathy, Autosomal Dominant, 1

ClinVar genetic disease variations for Auditory Neuropathy, Autosomal Dominant, 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DIAPH3 DIAPH3, -172G-A single nucleotide variant Pathogenic
2 DIAPH3 NM_001042517.1(DIAPH3): c.2084_2088delAAGAG (p.Glu695Glyfs) deletion Uncertain significance rs749068924 GRCh38 Chromosome 13, 59924857: 59924861
3 DIAPH3 NM_001042517.1(DIAPH3): c.2084_2088delAAGAG (p.Glu695Glyfs) deletion Uncertain significance rs749068924 GRCh37 Chromosome 13, 60498991: 60498995
4 DIAPH3 NM_001042517.1(DIAPH3): c.3028-4_3028-3insGTAA insertion Benign rs10665848 GRCh37 Chromosome 13, 60385060: 60385061
5 DIAPH3 NM_001042517.1(DIAPH3): c.3028-4_3028-3insGTAA insertion Benign rs10665848 GRCh38 Chromosome 13, 59810926: 59810927
6 DIAPH3 NM_001258369.1(DIAPH3): c.1439C> G (p.Thr480Arg) single nucleotide variant Uncertain significance rs766502252 GRCh38 Chromosome 13, 59983810: 59983810
7 DIAPH3 NM_001258369.1(DIAPH3): c.1439C> G (p.Thr480Arg) single nucleotide variant Uncertain significance rs766502252 GRCh37 Chromosome 13, 60557944: 60557944

Expression for Auditory Neuropathy, Autosomal Dominant, 1

Search GEO for disease gene expression data for Auditory Neuropathy, Autosomal Dominant, 1.

Pathways for Auditory Neuropathy, Autosomal Dominant, 1

GO Terms for Auditory Neuropathy, Autosomal Dominant, 1

Cellular components related to Auditory Neuropathy, Autosomal Dominant, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 8.8 FMN1 GJB2 OTOF

Biological processes related to Auditory Neuropathy, Autosomal Dominant, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 8.8 GJB2 OTOF PJVK

Sources for Auditory Neuropathy, Autosomal Dominant, 1

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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