MCID: DFN133
MIFTS: 34

Deafness, Autosomal Recessive 9

Categories: Genetic diseases, Ear diseases, Neuronal diseases, Rare diseases, Blood diseases, Fetal diseases, Cardiovascular diseases

Aliases & Classifications for Deafness, Autosomal Recessive 9

MalaCards integrated aliases for Deafness, Autosomal Recessive 9:

Name: Deafness, Autosomal Recessive 9 54 29 69
Auditory Neuropathy, Autosomal Recessive, 1 54 71 29 13
Neurosensory Nonsyndromic Recessive Deafness 9 12 71
Autosomal Recessive Nonsyndromic Deafness 9 12 14
Dfnb9 12 71
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 9 71
Nonsyndromic Auditory Neuropathy Autosomal Recessive 71
Deafness Neurosensory Autosomal Recessive 9 71
Auditory Neuropathy, Nonsyndromic Recessive 69
Non-Syndromic Recessive Hearing Loss 9 71
Deafness, Autosomal Recessive, 9 71
Autosomal Recessive Deafness 9 12
Nrsd9 12
Nsran 71
Aunb1 71
Nsrd9 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
congenital onset or onset before 2 years (prelingual)
nonsyndromic disorder


HPO:

32
deafness, autosomal recessive 9:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 601071
Disease Ontology 12 DOID:0110535
ICD10 33 H90.3
MeSH 42 D006319
SNOMED-CT via HPO 65 258211005 60700002

Summaries for Deafness, Autosomal Recessive 9

UniProtKB/Swiss-Prot : 71 Auditory neuropathy, autosomal recessive, 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. In some cases AUNB1 phenotype can be temperature sensitive. Deafness, autosomal recessive, 9: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

MalaCards based summary : Deafness, Autosomal Recessive 9, also known as auditory neuropathy, autosomal recessive, 1, is related to otof-related deafness and efemp2-related cutis laxa, and has symptoms including sensorineural hearing impairment, absent brainstem auditory responses and absence of acoustic reflex. An important gene associated with Deafness, Autosomal Recessive 9 is OTOF (Otoferlin). Affiliated tissues include brain, and related phenotype is hearing/vestibular/ear.

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually severe to profound, stable hearing loss and has material basis in mutation in the OTOF gene on chromosome 2p23.

Description from OMIM: 601071

Related Diseases for Deafness, Autosomal Recessive 9

Diseases in the Familial Deafness family:

Deafness, Autosomal Recessive 96 Deafness, Autosomal Recessive 36
Deafness, Autosomal Dominant 2b Deafness, Autosomal Recessive
Deafness, Autosomal Dominant 2a Deafness, Autosomal Recessive 108
Deafness, Autosomal Recessive 32 Deafness, Autosomal Recessive 105
Deafness, Autosomal Dominant 7 Deafness, Autosomal Dominant 49
Deafness, Autosomal Recessive 45 Deafness, Autosomal Recessive 9
Deafness, Autosomal Dominant 58 Deafness, Autosomal Recessive 70
Deafness, Autosomal Dominant 43 Deafness, Autosomal Recessive 88
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 27
Deafness, Autosomal Recessive 59 Deafness, Autosomal Recessive 6
Deafness, Autosomal Dominant 70 Deafness, Autosomal Recessive 42
Deafness, Autosomal Dominant 18 Deafness, Autosomal Dominant 44
Deafness, Autosomal Dominant 6/14/38 Deafness, Autosomal Recessive 25
Deafness, Autosomal Dominant 27 Deafness, Autosomal Recessive 55
Deafness, Autosomal Recessive 26 Deafness, Autosomal Dominant 24
Deafness, Autosomal Recessive 49 Deafness, Autosomal Dominant 1
Deafness, Autosomal Dominant 54 Deafness, Autosomal Dominant 15
Deafness, Autosomal Dominant 52 Deafness, Autosomal Recessive 101
Deafness, Autosomal Recessive 91 Deafness, Autosomal Dominant 21
Deafness, Autosomal Recessive 104 Deafness, Autosomal Recessive 66
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 53
Deafness, Autosomal Dominant 31 Deafness, Autosomal Recessive 67
Deafness, Autosomal Dominant 72 Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 22 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 66 Deafness, Autosomal Dominant 10
Deafness, Autosomal Recessive 38 Deafness, Autosomal Dominant 5
Deafness, Autosomal Recessive 44 Deafness, Autosomal Recessive 39
Deafness, Autosomal Recessive 61 Deafness, Autosomal Recessive 14
Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 97
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 13
Deafness, Autosomal Recessive 71 Deafness, Autosomal Dominant 28
Deafness, Autosomal Recessive 83 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 7 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 51 Deafness, Autosomal Recessive 31
Deafness, Autosomal Dominant 56 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 33 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 12 Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 18a Deafness Autosomal Recessive 106
Deafness, Autosomal Recessive 18b Deafness, Autosomal Dominant 59
Deafness, Autosomal Recessive 51 Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 63 Deafness, Autosomal Recessive 2
Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 8/12
Deafness, Autosomal Recessive 21 Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 20 Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 102 Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 74 Deafness, Autosomal Recessive 84a
Deafness, Autosomal Dominant 73 Deafness, Autosomal Recessive 84b
Deafness, Autosomal Dominant 25 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 41 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Dominant 3a Deafness, Autosomal Dominant 3b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Dominant 33
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 5
Deafness, Autosomal Dominant 9 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 35 Deafness, Autosomal Recessive 16
Deafness, Autosomal Dominant 71 Deafness, Autosomal Recessive 48
Deafness, Autosomal Dominant 68 Deafness, Autosomal Dominant 30
Deafness , Autosomal Recessive 86 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 40 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 3 Deafness, Autosomal Recessive 107
Deafness, Autosomal Dominant 20/26 Deafness, Autosomal Recessive 46
Deafness, Autosomal Recessive 77 Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 76
Deafness, Autosomal Dominant 4b Deafness, Autosomal Dominant 4a
Deafness, Autosomal Dominant 67 Deafness, Autosomal Recessive 65
Deafness, Autosomal Recessive 29 Deafness, Autosomal Recessive 8/10
Deafness, Autosomal Recessive 98 Deafness, Autosomal Dominant 17
Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 28
Nonsyndromic Deafness Autosomal Dominant Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 47 Autosomal Recessive Nonsyndromic Deafness 8
Autosomal Dominant Nonsyndromic Deafness 12 Autosomal Dominant Nonsyndromic Deafness 20
Autosomal Dominant Nonsyndromic Deafness 6 Autosomal Dominant Nonsyndromic Deafness 69
Otof-Related Deafness

Diseases related to Deafness, Autosomal Recessive 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
id Related Disease Score Top Affiliating Genes
1 otof-related deafness 11.1
2 efemp2-related cutis laxa 10.2 MYOF OTOF
3 pigmented nodular adrenocortical disease, primary, 2 10.2 GJB2 OTOF
4 developmental dysplasia of the hip 1 10.2 GJB2 OTOF
5 diabetes persistent mullerian ducts 10.2 GJB2 OTOF
6 microcephaly and chorioretinopathy, autosomal recessive, 3 10.2 GJB2 OTOF
7 congenital muscular dystrophy due to lmna mutation 10.1 GJB2 OTOF
8 orofacial cleft 10.1 GJB2 OTOF
9 ausems wittebol-post hennekam syndrome 10.0 GJB2 OTOF
10 anal canal carcinoma 10.0 GJB2 TECTA
11 deafness, autosomal recessive 53 10.0 GJB2 OTOF
12 dihydrolipoamide dehydrogenase deficiency 9.9 GJB2 OTOF
13 nodular lichen myxedematosus 9.9 GJB2 TECTA
14 deafness, autosomal recessive 9.8 GJB2 OTOF
15 leber congenital amaurosis 14 9.7 GJB2 OTOF TECTA
16 deafness, autosomal dominant 11 9.6 GJB2 OTOF TECTA
17 nonsyndromic hydrocephalus, ccdc88c-related 9.6 GJB2 OTOF TECTA
18 autosomal recessive nonsyndromic deafness 8 9.6 GJB2 OTOF TECTA
19 endometritis 9.6 GJB2 OTOF
20 narcissistic personality disorder 9.6 GJB2 OTOF TECTA
21 discrete papular lichen myxedematosus 9.6 GJB2 OTOF TECTA
22 autosomal recessive nonsyndromic deafness 9.6 GJB2 OTOF TECTA

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 9:



Diseases related to Deafness, Autosomal Recessive 9

Symptoms & Phenotypes for Deafness, Autosomal Recessive 9

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
deafness, sensorineural

Head And Neck- Ears:
deafness, sensorineural (severe to profound)
no auditory brainstem response (abr)
absence of acoustic middle ear muscle reflexes
u- or bowl-shaped audiogram
normal otoacoustic emissions (oae), indicating intact outer ear hair cell function
more

Clinical features from OMIM:

601071

Human phenotypes related to Deafness, Autosomal Recessive 9:

32
id Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 absent brainstem auditory responses 32 HP:0004463
3 absence of acoustic reflex 32 HP:0008529

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 9:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.8 GJB2 OTOF TECTA

Drugs & Therapeutics for Deafness, Autosomal Recessive 9

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 9

Genetic Tests for Deafness, Autosomal Recessive 9

Genetic tests related to Deafness, Autosomal Recessive 9:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 9 29
2 Auditory Neuropathy, Autosomal Recessive, 1 29

Anatomical Context for Deafness, Autosomal Recessive 9

MalaCards organs/tissues related to Deafness, Autosomal Recessive 9:

39
Brain

Publications for Deafness, Autosomal Recessive 9

Variations for Deafness, Autosomal Recessive 9

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 9:

71 (show all 12)
id Symbol AA change Variation ID SNP ID
1 OTOF p.Pro490Gln VAR_032228 rs80356585
2 OTOF p.Ile515Thr VAR_032229 rs80356586
3 OTOF p.Arg794His VAR_032232 rs80356592
4 OTOF p.Leu1011Pro VAR_032234 rs80356596
5 OTOF p.Arg1157Gln VAR_032236 rs56054534
6 OTOF p.Pro1825Ala VAR_032239 rs28937591
7 OTOF p.Arg1939Gln VAR_032241 rs80356605
8 OTOF p.Pro1987Arg VAR_032242 rs80356606
9 OTOF p.Gln255His VAR_046003 rs397515611
10 OTOF p.Ala964Glu VAR_046004 rs201329629
11 OTOF p.Leu1138Pro VAR_046005 rs397515599
12 OTOF p.Phe1795Cys VAR_046008 rs397515606

ClinVar genetic disease variations for Deafness, Autosomal Recessive 9:

6 (show top 50) (show all 76)
id Gene Variation Type Significance SNP ID Assembly Location
1 OTOF NM_194248.2(OTOF): c.4491T> A (p.Tyr1497Ter) single nucleotide variant Pathogenic rs80356600 GRCh37 Chromosome 2, 26689591: 26689591
2 OTOF NM_194248.2(OTOF): c.766-2A> G single nucleotide variant Pathogenic rs80356584 GRCh37 Chromosome 2, 26717943: 26717943
3 OTOF OTOF, IVS5, G-A, +1 single nucleotide variant Pathogenic
4 OTOF NM_194248.2(OTOF): c.2485C> T (p.Gln829Ter) single nucleotide variant Pathogenic rs80356593 GRCh37 Chromosome 2, 26700078: 26700078
5 OTOF NM_194248.2(OTOF): c.5473C> G (p.Pro1825Ala) single nucleotide variant Pathogenic rs28937591 GRCh37 Chromosome 2, 26684624: 26684624
6 OTOF OTOF, 1-BP DEL, 1778G deletion Pathogenic
7 OTOF NM_194248.2(OTOF): c.4960+1G> C single nucleotide variant Pathogenic rs80356602 GRCh37 Chromosome 2, 26687736: 26687736
8 OTOF NM_194323.2(OTOF): c.3659C> G (p.Pro1220Arg) single nucleotide variant Pathogenic rs121908598 GRCh37 Chromosome 2, 26680942: 26680942
9 OTOF NM_194248.2(OTOF): c.3032T> C (p.Leu1011Pro) single nucleotide variant Pathogenic rs80356596 GRCh37 Chromosome 2, 26698321: 26698321
10 OTOF NM_194248.2(OTOF): c.1544T> C (p.Ile515Thr) single nucleotide variant Pathogenic rs80356586 GRCh37 Chromosome 2, 26705309: 26705309
11 OTOF NM_194248.2(OTOF): c.1469C> A (p.Pro490Gln) single nucleotide variant Pathogenic rs80356585 GRCh37 Chromosome 2, 26705384: 26705384
12 OTOF NM_194248.2(OTOF): c.1651delG (p.Glu551Serfs) deletion Pathogenic rs80356587 GRCh37 Chromosome 2, 26703806: 26703806
13 OTOF NM_194248.2(OTOF): c.1886dupA (p.Pro630Alafs) duplication Pathogenic rs80356588 GRCh37 Chromosome 2, 26703097: 26703097
14 OTOF NM_194248.2(OTOF): c.2122C> T (p.Arg708Ter) single nucleotide variant Pathogenic rs80356590 GRCh37 Chromosome 2, 26702224: 26702224
15 OTOF NM_194248.2(OTOF): c.2214+1G> T single nucleotide variant Pathogenic rs80356589 GRCh37 Chromosome 2, 26702131: 26702131
16 OTOF NM_194248.2(OTOF): c.2348delG (p.Gly783Alafs) deletion Pathogenic rs80356591 GRCh37 Chromosome 2, 26700342: 26700342
17 OTOF NM_194248.2(OTOF): c.2887C> T (p.Arg963Ter) single nucleotide variant Pathogenic rs80356595 GRCh37 Chromosome 2, 26698886: 26698886
18 OTOF NM_194248.2(OTOF): c.2991+1G> A single nucleotide variant Pathogenic rs80356594 GRCh37 Chromosome 2, 26698781: 26698781
19 OTOF NM_194248.2(OTOF): c.3571-2A> C single nucleotide variant Pathogenic rs80356597 GRCh37 Chromosome 2, 26696164: 26696164
20 OTOF NM_194248.2(OTOF): c.4275G> A (p.Trp1425Ter) single nucleotide variant Pathogenic rs80356598 GRCh37 Chromosome 2, 26690054: 26690054
21 OTOF NM_194248.2(OTOF): c.4500+2T> G single nucleotide variant Pathogenic rs80356599 GRCh37 Chromosome 2, 26689580: 26689580
22 OTOF NM_194248.2(OTOF): c.4559G> A (p.Arg1520Gln) single nucleotide variant Pathogenic rs80356601 GRCh37 Chromosome 2, 26688886: 26688886
23 OTOF NM_194248.2(OTOF): c.5712+1G> A single nucleotide variant Pathogenic rs80356604 GRCh37 Chromosome 2, 26683719: 26683719
24 OTOF NM_194248.1: c.5860_5862delATC deletion Pathogenic
25 OTOF NM_194248.2(OTOF): c.5960C> G (p.Pro1987Arg) single nucleotide variant Pathogenic rs80356606 GRCh37 Chromosome 2, 26682927: 26682927
26 OTOF NM_194248.2(OTOF): c.1621G> A (p.Gly541Ser) single nucleotide variant Pathogenic rs397515435 GRCh37 Chromosome 2, 26703836: 26703836
27 OTOF NM_194248.2(OTOF): c.4718T> C (p.Ile1573Thr) single nucleotide variant Likely pathogenic rs111033405 GRCh37 Chromosome 2, 26688621: 26688621
28 OTOF NM_194248.2(OTOF): c.5098G> C (p.Glu1700Gln) single nucleotide variant Pathogenic/Likely pathogenic rs199766465 GRCh37 Chromosome 2, 26686837: 26686837
29 OTOF NM_194248.2(OTOF): c.5193-1G> A single nucleotide variant Likely pathogenic rs111033373 GRCh37 Chromosome 2, 26685050: 26685050
30 OTOF NM_194248.2(OTOF): c.1103_1104delGGinsC (p.Gly368Alafs) indel Pathogenic rs397515579 GRCh37 Chromosome 2, 26707443: 26707444
31 OTOF NM_194248.2(OTOF): c.1180dupG (p.Glu394Glyfs) duplication Pathogenic rs397515580 GRCh37 Chromosome 2, 26707367: 26707367
32 OTOF NM_194248.2(OTOF): c.1236delC (p.Glu413Asnfs) deletion Pathogenic rs397515581 GRCh37 Chromosome 2, 26706486: 26706486
33 OTOF NM_194248.2(OTOF): c.1273C> T (p.Arg425Ter) single nucleotide variant Pathogenic rs397515582 GRCh37 Chromosome 2, 26706449: 26706449
34 OTOF NM_194248.1: c.1552-1567del16 deletion Pathogenic
35 OTOF NM_194248.2(OTOF): c.1601delC (p.Pro534Glnfs) deletion Pathogenic rs397515583 GRCh37 Chromosome 2, 26703856: 26703856
36 OTOF NM_194248.2(OTOF): c.1607G> A (p.Trp536Ter) single nucleotide variant Pathogenic rs397515584 GRCh37 Chromosome 2, 26703850: 26703850
37 OTOF NM_194248.2(OTOF): c.1609delG (p.Val537Terfs) deletion Pathogenic rs397515585 GRCh37 Chromosome 2, 26703848: 26703848
38 OTOF NM_194248.2(OTOF): c.1718T> G (p.Leu573Arg) single nucleotide variant Pathogenic rs397515586 GRCh37 Chromosome 2, 26703739: 26703739
39 OTOF NM_194248.2(OTOF): c.1740delC (p.Ser581Profs) deletion Pathogenic rs397515587 GRCh37 Chromosome 2, 26703717: 26703717
40 OTOF NM_194248.2(OTOF): c.1780G> A (p.Glu594Lys) single nucleotide variant Pathogenic rs397515588 GRCh37 Chromosome 2, 26703677: 26703677
41 OTOF NM_194248.2(OTOF): c.1841G> A (p.Gly614Glu) single nucleotide variant Pathogenic rs397515589 GRCh37 Chromosome 2, 26703142: 26703142
42 OTOF NM_194248.1: c.1912-2C> T single nucleotide variant Pathogenic
43 OTOF NM_194248.2(OTOF): c.1966delC (p.Arg656Glyfs) deletion Pathogenic rs397515590 GRCh37 Chromosome 2, 26702468: 26702468
44 OTOF NM_194248.2(OTOF): c.2239G> T (p.Glu747Ter) single nucleotide variant Pathogenic rs397515591 GRCh37 Chromosome 2, 26700593: 26700593
45 OTOF NM_194248.1: c.2295_2297delG deletion Pathogenic
46 OTOF NM_194248.2(OTOF): c.2316C> A (p.Cys772Ter) single nucleotide variant Pathogenic rs397515592 GRCh37 Chromosome 2, 26700374: 26700374
47 OTOF NM_194248.2(OTOF): c.2649C> A (p.Cys883Ter) single nucleotide variant Pathogenic rs397515593 GRCh37 Chromosome 2, 26699786: 26699786
48 OTOF NM_194248.2(OTOF): c.2684_2685delGG (p.Gly895Glufs) deletion Pathogenic rs397515594 GRCh37 Chromosome 2, 26699177: 26699178
49 OTOF NM_194248.2(OTOF): c.2732_2735dupAGCT (p.Tyr913Alafs) duplication Pathogenic rs397515595 GRCh37 Chromosome 2, 26699127: 26699130
50 OTOF NM_194248.2(OTOF): c.2891C> A (p.Ala964Glu) single nucleotide variant Pathogenic rs201329629 GRCh37 Chromosome 2, 26698882: 26698882

Expression for Deafness, Autosomal Recessive 9

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 9.

Pathways for Deafness, Autosomal Recessive 9

GO Terms for Deafness, Autosomal Recessive 9

Cellular components related to Deafness, Autosomal Recessive 9 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 8.8 CTBP2 GJB2 OTOF

Biological processes related to Deafness, Autosomal Recessive 9 according to GeneCards Suite gene sharing:

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

Sources for Deafness, Autosomal Recessive 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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