AUNA1
MCID: ADT007
MIFTS: 34

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 57 73 29 13 6 39 71
Auna1 57 12 73
Nsdan 57 12 73
Autosomal Dominant Auditory Neuropathy 1 12 15
Nonsyndromic Auditory Neuropathy Autosomal Dominant 73
Auditory Neuropathy, Nonsyndromic Dominant; Nsdan 57
Auditory Neuropathy, Nonsyndromic Dominant 57
Nonsyndromic Dominant Auditory Neuropathy 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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:

31
auditory neuropathy, autosomal dominant, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060690
OMIM® 57 609129
OMIM Phenotypic Series 57 PS609129
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C1836743
SNOMED-CT via HPO 68 102971006 263681008 60700002
UMLS 71 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) (Updated 05-Mar-2021)

MalaCards based summary : Auditory Neuropathy, Autosomal Dominant, 1, also known as auna1, is related to auditory neuropathy spectrum disorder and branchiootic syndrome 1. 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 : 73 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 top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 auditory neuropathy spectrum disorder 30.6 PJVK OTOF
2 branchiootic syndrome 1 30.1 PJVK OTOF GJB2
3 deafness, autosomal recessive 85 10.2 PJVK OTOF
4 deafness, autosomal recessive 59 10.2 PJVK OTOF
5 deafness, autosomal recessive 83 10.2 PJVK OTOF
6 deafness, autosomal recessive 101 10.2 PJVK DIAPH1
7 autosomal recessive nonsyndromic deafness 10.2 OTOF GJB2
8 deafness, autosomal dominant 6 10.2 GJB2 DIAPH1
9 neuropathy 10.2
10 cryptophthalmos, unilateral or bilateral, isolated 10.2 FMN1 DIAPH3
11 deafness, autosomal recessive 77 10.1 PJVK GJB2
12 dfnb1 10.1 OTOF GJB2
13 deafness, autosomal recessive 49 10.1 PJVK GJB2
14 deafness, x-linked 5, with peripheral neuropathy 10.1 PJVK OTOF DIAPH3
15 deafness, autosomal recessive 21 10.1 PJVK GJB2
16 deafness, autosomal recessive 25 10.1 PJVK ESPNL
17 deafness, autosomal recessive 16 10.1 OTOF GJB2
18 deafness, autosomal dominant 36 10.0 OTOF GJB2
19 deafness, autosomal recessive 10.0 PJVK OTOF GJB2
20 deafness, autosomal recessive 28 10.0 OTOF ESPNL
21 deafness, autosomal recessive 93 10.0 PJVK OTOF GJB2
22 autosomal recessive nonsyndromic deafness 3 10.0 PJVK OTOF GJB2
23 deafness, autosomal recessive 8 10.0 PJVK OTOF GJB2
24 deafness, autosomal recessive 7 10.0 PJVK OTOF GJB2
25 deafness, autosomal recessive 2 10.0 PJVK OTOF GJB2
26 vestibular disease 10.0 OTOF GJB2
27 deafness, autosomal recessive 61 10.0 SLC17A8 OTOF
28 deafness, autosomal recessive 1a 10.0 PJVK OTOF GJB2
29 deafness, autosomal dominant 67 10.0 OTOF GJB2 DIAPH1
30 auditory system disease 10.0 PJVK OTOF GJB2
31 x-linked nonsyndromic deafness 10.0 OTOF GJB2
32 otosclerosis 10.0 PJVK OTOF GJB2
33 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.0 PJVK OTOF GJB2
34 deafness, autosomal dominant 64 10.0 SLC17A8 GJB2
35 deafness, autosomal dominant 25 10.0 SLC17A8 OTOF
36 usher syndrome, type id 10.0 OTOF GJB2
37 deafness, autosomal dominant 2a 10.0 SLC17A8 GJB2
38 usher syndrome, type ic 9.9 SLC17A8 GJB2
39 duodenal atresia 9.9
40 chromosomal triplication 9.9
41 deafness, autosomal recessive 12 9.9 OTOF GJB2
42 nonsyndromic hearing loss 9.8 PJVK OTOF GJB2 DIAPH1
43 deafness, autosomal dominant 1, with or without thrombocytopenia 9.8 GJB2 FMN1 DIAPH3 DIAPH1
44 rare genetic deafness 9.8 PJVK OTOF GJB2 DIAPH1
45 usher syndrome, type i 9.8 PJVK OTOF GJB2 DIAPH1
46 non-syndromic genetic deafness 9.8 OTOF GJB2
47 usher syndrome 9.7 SLC17A8 PJVK OTOF GJB2
48 deafness, autosomal recessive 9 9.6 SLC17A8 PJVK OTOF GJB2 DIAPH3
49 autosomal dominant non-syndromic sensorineural deafness type dfna 9.5 SLC17A8 OTOF GJB2 DIAPH3 DIAPH1
50 sensorineural hearing loss 9.5 SLC17A8 OTOF GJB2 DIAPH3 DIAPH1

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:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407
2 abnormal auditory evoked potentials 31 HP:0006958
3 abnormal speech discrimination 31 HP:0001963
4 absence of acoustic reflex 31 HP:0008529

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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 9.63 ELMOD1 ESPNL GJB2 OTOF PJVK SLC17A8
2 nervous system MP:0003631 9.56 DIAPH1 DIAPH3 ELMOD1 GJB2 OTOF PCDH9
3 no phenotypic analysis MP:0003012 9.02 DIAPH1 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

Articles related to Auditory Neuropathy, Autosomal Dominant, 1:

# Title Authors PMID Year
1
Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila. 61 6 57
20624953 2010
2
A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14-21. 61 57
15520414 2004
3
A dominantly inherited progressive deafness affecting distal auditory nerve and hair cells. 57
15675004 2004
4
Auditory dysfunction in Friedreich ataxia: result of spiral ganglion degeneration. 57
7191495 1980
5
Abnormal auditory evoked potentials in hereditary motor-sensory neuropathy. 57
223494 1979
6
AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance. 61
28601886 2017
7
Remodeling of the Inner Hair Cell Microtubule Meshwork in a Mouse Model of Auditory Neuropathy AUNA1. 61
28058271 2016
8
Molecular study of patients with auditory neuropathy. 61
27177047 2016
9
Diaphanous homolog 3 (Diap3) overexpression causes progressive hearing loss and inner hair cell defects in a transgenic mouse model of human deafness. 61
23441200 2013
10
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). 61
19353688 2009

Variations for Auditory Neuropathy, Autosomal Dominant, 1

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

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DIAPH3 DIAPH3, -172G-A SNV Pathogenic 31218
2 DIAPH3 NM_001042517.2(DIAPH3):c.2059del (p.Cys687fs) Deletion Pathogenic 984530 13:60544093-60544093 13:59969959-59969959
3 DIAPH3 NM_001042517.2(DIAPH3):c.357G>C (p.Glu119Asp) SNV Uncertain significance 989303 13:60686177-60686177 13:60112043-60112043
4 DIAPH3 NM_001042517.2(DIAPH3):c.2079_2083AAGAG[1] (p.Glu695fs) Microsatellite Uncertain significance 225339 rs749068924 13:60498991-60498995 13:59924857-59924861
5 DIAPH3 NM_001042517.2(DIAPH3):c.1342C>T (p.Arg448Ter) SNV Uncertain significance 915388 13:60565311-60565311 13:59991177-59991177
6 DIAPH3 NM_001042517.2(DIAPH3):c.1439C>G (p.Thr480Arg) SNV Likely benign 522938 rs766502252 13:60557944-60557944 13:59983810-59983810
7 DIAPH3 NM_001042517.2(DIAPH3):c.2149T>C (p.Ser717Pro) SNV Likely benign 514234 rs191267920 13:60498930-60498930 13:59924796-59924796
8 DIAPH3 NM_001042517.2(DIAPH3):c.1840C>A (p.Pro614Thr) SNV Benign 449011 rs200018583 13:60545105-60545105 13:59970971-59970971
9 DIAPH3 NM_001042517.2(DIAPH3):c.3028-4_3028-3insGTAA Insertion Benign 508094 rs10665848 13:60385060-60385061 13:59810926-59810927

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

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

# Name GO ID Score Top Affiliating Genes
1 actin filament polymerization GO:0030041 9.16 DIAPH3 DIAPH1
2 sensory perception of sound GO:0007605 9.1 SLC17A8 PJVK OTOF GJB2 ESPNL DIAPH1
3 cellular component organization GO:0016043 8.96 DIAPH3 DIAPH1

Molecular functions related to Auditory Neuropathy, Autosomal Dominant, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.26 FMN1 ESPNL DIAPH3 DIAPH1
2 Rho GTPase binding GO:0017048 8.62 DIAPH3 DIAPH1

Sources for Auditory Neuropathy, Autosomal Dominant, 1

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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