AUNA1
MCID: ADT007
MIFTS: 35

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 56 73 29 13 6 39 71
Auna1 56 12 73
Nsdan 56 12 73
Autosomal Dominant Auditory Neuropathy 1 12 15
Nonsyndromic Auditory Neuropathy Autosomal Dominant 73
Auditory Neuropathy, Nonsyndromic Dominant; Nsdan 56
Auditory Neuropathy, Nonsyndromic Dominant 56
Nonsyndromic Dominant Auditory Neuropathy 12

Characteristics:

OMIM:

56
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 56 609129
OMIM Phenotypic Series 56 PS609129
MeSH 43 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 : 56 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 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 52)
# Related Disease Score Top Affiliating Genes
1 auditory neuropathy spectrum disorder 31.1 PJVK OTOF
2 branchiootic syndrome 1 30.5 PJVK OTOF GJB2
3 neuropathy 10.4
4 deafness, autosomal recessive 85 10.3 PJVK OTOF
5 deafness, autosomal recessive 59 10.3 PJVK OTOF
6 deafness, autosomal recessive 83 10.3 PJVK OTOF
7 deafness, autosomal dominant 6 10.2 GJB2 DIAPH1
8 deafness, autosomal recessive 22 10.2 PJVK OTOF
9 dfnb1 10.2 OTOF GJB2
10 deafness, autosomal recessive 77 10.2 PJVK GJB2
11 duodenal atresia 10.2
12 chromosomal triplication 10.2
13 deafness, autosomal recessive 21 10.2 PJVK GJB2
14 deafness, autosomal recessive 49 10.2 PJVK GJB2
15 deafness, x-linked 5, with peripheral neuropathy 10.1 PJVK OTOF DIAPH3
16 cryptophthalmos, unilateral or bilateral, isolated 10.1 FMN1 DIAPH3
17 deafness, autosomal recessive 16 10.1 OTOF GJB2
18 deafness, autosomal dominant 36 10.1 OTOF GJB2
19 x-linked nonsyndromic deafness 10.0 OTOF GJB2
20 deafness, autosomal recessive 10.0 PJVK OTOF GJB2
21 deafness, autosomal recessive 93 10.0 PJVK OTOF GJB2
22 autosomal recessive nonsyndromic deafness 10.0 PJVK OTOF GJB2
23 autosomal recessive nonsyndromic deafness 3 10.0 PJVK OTOF GJB2
24 deafness, autosomal recessive 25 10.0 PJVK ESPNL
25 deafness, autosomal recessive 8 10.0 PJVK OTOF GJB2
26 deafness, autosomal recessive 7 10.0 PJVK OTOF GJB2
27 usher syndrome, type iia 10.0 OTOF GJB2
28 deafness, autosomal recessive 2 10.0 PJVK OTOF GJB2
29 deafness, autosomal recessive 1a 10.0 PJVK OTOF GJB2
30 auditory system disease 10.0 PJVK OTOF GJB2
31 autosomal recessive non-syndromic sensorineural deafness type dfnb 10.0 PJVK OTOF GJB2
32 deafness, autosomal dominant 67 10.0 OTOF GJB2 DIAPH1
33 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.0 PJVK OTOF GJB2
34 deafness, autosomal recessive 28 10.0 OTOF ESPNL
35 otosclerosis 10.0 PJVK OTOF GJB2
36 vestibular disease 10.0 OTOF GJB2
37 deafness, autosomal recessive 12 9.9 OTOF GJB2
38 deafness, autosomal recessive 61 9.9 SLC17A8 OTOF
39 branchiootorenal syndrome 9.9 OTOF GJB2
40 deafness, autosomal dominant 25 9.8 SLC17A8 OTOF
41 deafness, autosomal dominant 64 9.8 SLC17A8 GJB2
42 deafness, autosomal dominant 2a 9.8 SLC17A8 GJB2
43 nonsyndromic hearing loss 9.8 PJVK OTOF GJB2 DIAPH1
44 rare genetic deafness 9.8 PJVK OTOF GJB2 DIAPH1
45 deafness, autosomal dominant 1 9.7 GJB2 FMN1 DIAPH3 DIAPH1
46 usher syndrome, type i 9.7 PJVK OTOF GJB2 DIAPH1
47 pendred syndrome 9.7 OTOF GJB2
48 usher syndrome, type ic 9.7 SLC17A8 GJB2
49 autosomal dominant non-syndromic sensorineural deafness type dfna 9.6 SLC17A8 GJB2 DIAPH3
50 deafness, autosomal recessive 9 9.4 SLC17A8 PJVK OTOF GJB2

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:

56
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.73 ELMOD1 ESPNL GJB2 OTOF PJVK SLC17A8
2 integument MP:0010771 9.63 DIAPH1 DIAPH3 ELMOD1 FMN1 GJB2 SLC17A8
3 nervous system MP:0003631 9.5 DIAPH1 ELMOD1 GJB2 OTOF PCDH9 PJVK
4 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:

(show all 16)
# 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 56
20624953 2010
2
A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14-21. 61 56
15520414 2004
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 and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation. 6
15637703 2005
6
A dominantly inherited progressive deafness affecting distal auditory nerve and hair cells. 56
15675004 2004
7
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
8
Maternally inherited deafness associated with a T1095C mutation in the mDNA. 6
11313749 2001
9
A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy. 6
11079536 2000
10
Auditory dysfunction in Friedreich ataxia: result of spiral ganglion degeneration. 56
7191495 1980
11
Abnormal auditory evoked potentials in hereditary motor-sensory neuropathy. 56
223494 1979
12
AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance. 61
28601886 2017
13
Remodeling of the Inner Hair Cell Microtubule Meshwork in a Mouse Model of Auditory Neuropathy AUNA1. 61
28058271 2016
14
Molecular study of patients with auditory neuropathy. 61
27177047 2016
15
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
16
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-ASNV Pathogenic 31218
2 DIAPH3 NM_001042517.2(DIAPH3):c.2079_2083AAGAG[1] (p.Glu695fs)short repeat Uncertain significance 225339 rs749068924 13:60498991-60498995 13:59924857-59924861
3 DIAPH3 NM_001042517.2(DIAPH3):c.1342C>T (p.Arg448Ter)SNV Uncertain significance 915388 13:60565311-60565311 13:59991177-59991177
4 DIAPH3 NM_001042517.2(DIAPH3):c.2149T>C (p.Ser717Pro)SNV Likely benign 514234 rs191267920 13:60498930-60498930 13:59924796-59924796
5 DIAPH3 NM_001042517.2(DIAPH3):c.1439C>G (p.Thr480Arg)SNV Likely benign 522938 rs766502252 13:60557944-60557944 13:59983810-59983810
6 DIAPH3 NM_001042517.2(DIAPH3):c.1840C>A (p.Pro614Thr)SNV Benign/Likely benign 449011 rs200018583 13:60545105-60545105 13:59970971-59970971
7 DIAPH3 NM_001042517.2(DIAPH3):c.3028-4_3028-3insGTAAinsertion 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

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 8.92 SLC17A8 OTOF GJB2 FMN1

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 Rho GTPase binding GO:0017048 8.96 DIAPH3 DIAPH1
2 actin binding GO:0003779 8.92 FMN1 ESPNL 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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