AUNA1
MCID: ADT007
MIFTS: 30

Auditory Neuropathy, Autosomal Dominant, 1 (AUNA1)

Categories: Ear diseases, Genetic 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 58 76 30 13 6 41 74
Auna1 58 12 76
Nsdan 58 12 76
Autosomal Dominant Auditory Neuropathy 1 12 15
Nonsyndromic Auditory Neuropathy Autosomal Dominant 76
Auditory Neuropathy, Nonsyndromic Dominant; Nsdan 58
Auditory Neuropathy, Nonsyndromic Dominant 58
Nonsyndromic Dominant Auditory Neuropathy 12

Characteristics:

OMIM:

58
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:

33
auditory neuropathy, autosomal dominant, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060690
OMIM 58 609129
MeSH 45 D006319
ICD10 34 H90.3
MedGen 43 C1836743
SNOMED-CT via HPO 70 102971006 263681008 60700002
UMLS 74 C1836743

Summaries for Auditory Neuropathy, Autosomal Dominant, 1

OMIM : 58 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 auditory evoked potentials

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 : 76 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 24)
# Related Disease Score Top Affiliating Genes
1 auditory neuropathy spectrum disorder 30.6 OTOF PJVK
2 neuropathy 10.3
3 deafness, autosomal recessive 10.1 OTOF PJVK
4 chromosomal triplication 10.1
5 deafness, autosomal recessive 85 10.0 OTOF PJVK
6 deafness, autosomal recessive 83 10.0 OTOF PJVK
7 autosomal recessive nonsyndromic deafness 9.9 GJB2 OTOF
8 dfnb1 9.8 GJB2 OTOF
9 deafness, autosomal recessive 1a 9.8 GJB2 OTOF
10 deafness, autosomal recessive 2 9.8 GJB2 OTOF
11 deafness, autosomal recessive 26 9.8 GJB2 OTOF
12 deafness, autosomal recessive 67 9.7 GJB2 PJVK
13 deafness, autosomal recessive 16 9.7 GJB2 OTOF
14 deafness, autosomal dominant 6 9.7 GJB2 OTOF
15 deafness, autosomal dominant 13 9.6 GJB2 OTOF
16 deafness, autosomal recessive 9 9.6 GJB2 OTOF PJVK
17 autosomal recessive nonsyndromic deafness 3 9.6 GJB2 OTOF PJVK
18 branchiootic syndrome 1 9.6 GJB2 OTOF PJVK
19 auditory system disease 9.6 GJB2 OTOF PJVK
20 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.6 GJB2 OTOF PJVK
21 non-syndromic genetic deafness 9.6 GJB2 OTOF PJVK
22 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.5 GJB2 OTOF
23 deafness, autosomal recessive 59 9.4 DIAPH3 GJB2 OTOF PJVK
24 nonsyndromic deafness 9.4 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

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

33
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 33 HP:0000407
2 abnormal auditory evoked potentials 33 HP:0006958
3 abnormal speech discrimination 33 HP:0001963
4 absence of acoustic reflex 33 HP:0008529

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
abnormal speech discrimination
hearing loss, neural type
abnormal or absent auditory nerve and brainstem responses
absent middle ear reflexes
abnormal auditory temporal processes
more

Clinical features from OMIM:

609129

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

47
# 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 30 DIAPH3

Anatomical Context for Auditory Neuropathy, Autosomal Dominant, 1

Publications for Auditory Neuropathy, Autosomal Dominant, 1

Articles related to Auditory Neuropathy, Autosomal Dominant, 1:

# Title Authors Year
1
Remodeling of the Inner Hair Cell Microtubule Meshwork in a Mouse Model of Auditory Neuropathy AUNA1. ( 28058271 )
2016
2
Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila. ( 20624953 )
2010
3
Pure monosomy and pure trisomy of 13q21.2-31.1 consequent to a familial insertional translocation: exclusion of PCDH9 as the responsible gene for autosomal dominant auditory neuropathy (AUNA1). ( 19353688 )
2009
4
A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14-21. ( 15520414 )
2004

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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