DFNB9
MCID: DFN133
MIFTS: 45

Deafness, Autosomal Recessive 9 (DFNB9)

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

Aliases & Classifications for Deafness, Autosomal Recessive 9

MalaCards integrated aliases for Deafness, Autosomal Recessive 9:

Name: Deafness, Autosomal Recessive 9 57 29 6 70
Auditory Neuropathy, Autosomal Recessive, 1 57 72 29 13 6
Neurosensory Nonsyndromic Recessive Deafness 9 57 12 72
Dfnb9 57 12 72
Autosomal Recessive Nonsyndromic Deafness 9 12 15
Nsrd9 57 72
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 9 72
Neurosensory Nonsyndromic Recessive Deafness 9; Nsrd9 57
Nonsyndromic Auditory Neuropathy Autosomal Recessive 72
Deafness Neurosensory Autosomal Recessive 9 72
Auditory Neuropathy, Nonsyndromic Recessive 70
Non-Syndromic Recessive Hearing Loss 9 72
Deafness, Autosomal Recessive, Type 9 39
Deafness, Autosomal Recessive, 9 72
Autosomal Recessive Deafness 9 12
Nrsd9 12
Nsran 72
Aunb1 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
deafness, autosomal recessive 9:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110535
OMIM® 57 601071
OMIM Phenotypic Series 57 PS220290 PS609129
MeSH 44 D006319
ICD10 32 H90.3
SNOMED-CT via HPO 68 258211005 60700002
UMLS 70 C1832828 C1832830

Summaries for Deafness, Autosomal Recessive 9

UniProtKB/Swiss-Prot : 72 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 deafness, autosomal recessive 3. An important gene associated with Deafness, Autosomal Recessive 9 is OTOF (Otoferlin). Affiliated tissues include brain, and related phenotypes are sensorineural hearing impairment and absent brainstem auditory responses

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.

More information from OMIM: 601071 PS220290 PS609129

Related Diseases for Deafness, Autosomal Recessive 9

Diseases in the Rare Deafness family:

Deafness, Autosomal Recessive 1a Deafness, Autosomal Recessive 2
Deafness, Autosomal Dominant 2a Deafness, Autosomal Recessive 3
Deafness, Autosomal Dominant 4a Deafness, Autosomal Recessive 5
Deafness, Autosomal Dominant 6 Deafness, Autosomal Recessive 6
Deafness, Autosomal Recessive 7 Deafness, Autosomal Dominant 5
Deafness, Autosomal Recessive 9 Deafness, Autosomal Recessive 8
Deafness, Autosomal Dominant 10 Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 9 Deafness, Autosomal Recessive 12
Deafness, Autosomal Dominant 7 Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 3a Deafness, Autosomal Dominant 13
Deafness, Autosomal Recessive 15 Deafness, Autosomal Recessive 18a
Deafness, Autosomal Dominant 15 Deafness, Autosomal Recessive 17
Deafness, Autosomal Recessive 13 Deafness, Autosomal Dominant 17
Deafness, Autosomal Recessive 21 Deafness, Autosomal Recessive 14
Deafness, Autosomal Recessive 16 Deafness, Autosomal Dominant 16
Deafness, Autosomal Recessive 20 Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 23 Deafness, Autosomal Recessive 26
Deafness, Autosomal Dominant 25 Deafness, Autosomal Recessive 27
Deafness, Autosomal Dominant 18 Deafness, Autosomal Dominant 24
Deafness, Autosomal Dominant 22 Deafness, Autosomal Dominant 30
Deafness, Autosomal Dominant 36 Deafness, Autosomal Dominant 21
Deafness, Autosomal Recessive 22 Deafness, Autosomal Recessive 31
Deafness, Autosomal Recessive 30 Deafness, Autosomal Recessive
Deafness, Autosomal Recessive 33 Deafness, Autosomal Dominant 44
Deafness, Autosomal Dominant 52 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 48 Deafness, Autosomal Recessive 38
Deafness, Autosomal Dominant 41 Deafness, Autosomal Recessive 40
Deafness, Autosomal Recessive 39 Deafness, Autosomal Dominant 49
Deafness, Autosomal Dominant 43 Deafness, Autosomal Recessive 35
Deafness, Autosomal Dominant 28 Deafness, Autosomal Dominant 31
Deafness, Autosomal Dominant 47 Deafness, Autosomal Recessive 48
Deafness, Autosomal Recessive 23 Deafness, Autosomal Recessive 42
Deafness, Autosomal Recessive 46 Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 28 Deafness, Autosomal Recessive 51
Deafness, Autosomal Recessive 47 Deafness, Autosomal Recessive 55
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 49 Deafness, Autosomal Recessive 44
Deafness, Autosomal Recessive 66 Deafness, Autosomal Recessive 59
Deafness, Autosomal Recessive 65 Deafness, Autosomal Recessive 67
Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 63 Deafness, Autosomal Dominant 27
Deafness, Autosomal Recessive 45 Deafness, Autosomal Dominant 59
Deafness, Autosomal Dominant 3b Deafness, Autosomal Dominant 2b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Recessive 71
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 77
Deafness, Autosomal Recessive 25 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 84a Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 91 Deafness, Autosomal Dominant 51
Deafness, Autosomal Recessive 83 Deafness, Autosomal Recessive 74
Deafness, Autosomal Recessive 61 Deafness, Autosomal Recessive 89
Deafness, Autosomal Recessive 29 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 33 Deafness, Autosomal Recessive 96
Deafness, Autosomal Dominant 4b Deafness, Autosomal Recessive 86
Deafness, Autosomal Recessive 98 Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 70 Deafness, Autosomal Recessive 84b
Deafness, Autosomal Recessive 18b Deafness, Autosomal Recessive 88
Deafness, Autosomal Recessive 76 Deafness, Autosomal Dominant 56
Deafness, Autosomal Dominant 54 Deafness, Autosomal Dominant 58
Deafness, Autosomal Recessive 101 Deafness, Autosomal Recessive 102
Deafness, Autosomal Recessive 103 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 67 Deafness, Autosomal Dominant 40
Deafness, Autosomal Recessive 104 Deafness, Autosomal Dominant 69
Deafness, Autosomal Recessive 97 Deafness, Autosomal Dominant 68
Deafness, Autosomal Dominant 70 Deafness, Autosomal Dominant 66
Deafness, Autosomal Dominant 71 Deafness, Autosomal Dominant 72
Deafness, Autosomal Recessive 106 Deafness, Autosomal Recessive 107
Deafness, Autosomal Recessive 108 Deafness, Autosomal Dominant 73
Deafness, Autosomal Recessive 57 Deafness, Autosomal Recessive 109
Deafness, Autosomal Recessive 110 Deafness, Autosomal Dominant 74
Deafness, Autosomal Recessive 111 Deafness, Autosomal Recessive 112
Deafness, Autosomal Recessive 113 Deafness, Autosomal Recessive 100
Deafness, Autosomal Recessive 94 Deafness, Autosomal Recessive 114
Deafness, Autosomal Recessive 115 Deafness, Autosomal Recessive 99
Deafness, Autosomal Dominant 37 Deafness, Autosomal Dominant 75
Deafness, Autosomal Dominant 76 Deafness, Autosomal Dominant 77
Deafness, Autosomal Dominant 78 Deafness, Autosomal Dominant 79
Deafness, Autosomal Recessive 116 Deafness, Autosomal Recessive 117
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 106 Autosomal Recessive Nonsyndromic Deafness 107
Autosomal Recessive Nonsyndromic Deafness 108 Autosomal Dominant Nonsyndromic Deafness 71
Autosomal Dominant Nonsyndromic Deafness 72 Autosomal Dominant Nonsyndromic Deafness 73
Autosomal Dominant Nonsyndromic Deafness 34 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Dominant Nonsyndromic Deafness 78 Autosomal Dominant Nonsyndromic Deafness 79
Autosomal Recessive Nonsyndromic Deafness 116 Autosomal Dominant Nonsyndromic Deafness 74
Autosomal Dominant Nonsyndromic Deafness 75 Autosomal Dominant Nonsyndromic Deafness 76
Autosomal Dominant Nonsyndromic Deafness 77 Nonsyndromic Deafness
Otof-Related Deafness Familial Deafness

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

(show top 50) (show all 100)
# Related Disease Score Top Affiliating Genes
1 otof-related deafness 32.5 RAI1 OTOF
2 deafness, autosomal recessive 3 30.2 MYO7A MYO15A GJB2
3 branchiootic syndrome 1 30.2 TMC1 TECTA SLC26A4 PJVK OTOF MYO7A
4 deafness, autosomal recessive 21 29.9 TMC1 TECTA PJVK MYO15A GJB2
5 autosomal recessive nonsyndromic deafness 3 29.5 TMC1 SLC26A4 PJVK OTOF MYO7A MYO15A
6 rare genetic deafness 29.4 TMPRSS3 TMC1 TECTA SLC26A4 PJVK OTOF
7 autosomal recessive non-syndromic sensorineural deafness type dfnb 28.8 TRIOBP TMPRSS3 TMC1 TECTA SLC26A4 RAI1
8 nonsyndromic hearing loss 28.6 TRIOBP TMPRSS3 TMC1 TECTA SLC26A4 PJVK
9 deafness, autosomal recessive 12 28.6 TRIOBP TMPRSS3 TMC1 TECTA SLC26A4 PJVK
10 deafness, autosomal recessive 85 10.4 PJVK OTOF
11 deafness, autosomal recessive 59 10.4 PJVK OTOF
12 y-linked deafness 10.4 TMC1 OTOF
13 deafness, autosomal recessive 27 10.3 TMC1 PJVK
14 deafness, autosomal dominant 67 10.3 OTOF GJB2
15 deafness, autosomal dominant 48 10.3 MYO7A MYO15A
16 deafness, autosomal recessive 18a 10.3 MYO7A MYO15A
17 deafness, autosomal recessive 6 10.3 TRIOBP PJVK
18 auditory neuropathy spectrum disorder 10.3 PJVK OTOF MYO7A
19 deafness, autosomal dominant 64 10.3 SLC17A8 GJB2
20 deafness, autosomal recessive 53 10.3 TECTA PJVK
21 deafness, autosomal recessive 49 10.3 PJVK MYO15A GJB2
22 serous labyrinthitis 10.3 SLC26A4 GJB2
23 dfnb1 10.3 OTOF MYO7A GJB2
24 deafness, autosomal dominant 56 10.3 SLC26A4 GJB2
25 deafness, autosomal recessive 48 10.3 TMC1 MYO7A
26 deafness, autosomal recessive 26 10.3 TECTA GJB2
27 deafness, autosomal dominant 2a 10.2 SLC17A8 GJB2
28 dysferlinopathy 10.2 OTOF MYOF DYSF
29 deafness, autosomal recessive 42 10.2 TECTA PJVK
30 usher syndrome, type iid 10.2 MYO7A MYO15A
31 deafness, autosomal recessive 79 10.2 TMC1 MYO15A GJB2
32 deafness, autosomal dominant 41 10.2 SLC26A4 GJB2
33 deafness, autosomal dominant 17 10.2 MYO7A MYO15A
34 deafness, autosomal recessive 1b 10.2 MYO15A GJB2
35 deafness, autosomal dominant 25 10.2 SLC17A8 OTOF MYO7A
36 deafness, autosomal dominant 11 10.2 MYO7A MYO15A GJB2
37 x-linked nonsyndromic deafness 10.2 SLC26A4 OTOF GJB2
38 branchiootorenal syndrome 10.2 SLC26A4 OTOF GJB2
39 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
40 deafness, autosomal recessive 30 10.2 MYO7A MYO15A
41 ear malformation 10.2 SLC26A4 GJB2
42 deafness, autosomal dominant 2b 10.2 TRIOBP GJB2
43 auditory neuropathy, autosomal dominant, 1 10.2 SLC17A8 PJVK OTOF GJB2
44 labyrinthitis 10.2 SLC26A4 MYO7A GJB2
45 drug-induced hearing loss 10.2 SLC26A4 MYO7A GJB2
46 deafness, autosomal recessive 16 10.2 TMC1 OTOF MYO15A GJB2
47 y-linked monogenic disease 10.2 TMPRSS3 TMC1 OTOF
48 deafness, autosomal recessive 13 10.2 TMPRSS3 TMC1 PJVK
49 autosomal recessive limb-girdle muscular dystrophy 10.2 MYOF FER1L6 FER1L5 DYSF
50 peripheral vertigo 10.2 SLC26A4 MYO7A GJB2

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

Human phenotypes related to Deafness, Autosomal Recessive 9:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407
2 absent brainstem auditory responses 31 HP:0004463
3 absence of acoustic reflex 31 HP:0008529

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 9:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 DYSF EMG1 MYO15A MYO7A OTOF PJVK
2 hearing/vestibular/ear MP:0005377 9.7 GJB2 MYO15A MYO7A OTOF PJVK SLC17A8
3 nervous system MP:0003631 9.47 EMG1 GJB2 MYO15A MYO7A OTOF PJVK

Drugs & Therapeutics for Deafness, Autosomal Recessive 9

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of a Cohort of Congenital Deep Deafness Patients and/or With Auditory Neuropathy, Looking for DFNB9 Recruiting NCT04202185

Search NIH Clinical Center for Deafness, Autosomal Recessive 9

Genetic Tests for Deafness, Autosomal Recessive 9

Genetic tests related to Deafness, Autosomal Recessive 9:

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

Anatomical Context for Deafness, Autosomal Recessive 9

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

40
Brain

Publications for Deafness, Autosomal Recessive 9

Articles related to Deafness, Autosomal Recessive 9:

(show all 32)
# Title Authors PMID Year
1
A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy. 6 57
22575033 2012
2
OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele. 6 57
16371502 2006
3
A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy. 6 57
16097006 2005
4
Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene. 57 6
12525542 2003
5
Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss. 6 57
12114484 2002
6
A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. 57 6
10192385 1999
7
Transient deafness due to temperature-sensitive auditory neuropathy. 57 6
9657592 1998
8
Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients. 6
29048421 2018
9
Timing of cochlear implantation in auditory neuropathy patients with OTOF mutations: Our experience with 10 patients. 6
28766844 2018
10
Utilization of amplicon-based targeted sequencing panel for the massively parallel sequencing of sporadic hearing impairment patients from Saudi Arabia. 6
27766948 2016
11
Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China. 6
27018795 2016
12
Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia). 6
27082237 2016
13
Identification of a novel splice site variant of OTOF in the Korean nonsyndromic hearing loss population with low prevalence of the OTOF mutations. 6
24814232 2014
14
Evidence for genotype-phenotype correlation for OTOF mutations. 6
24746455 2014
15
Genetic characteristics in children with cochlear implants and the corresponding auditory performance. 6
21557232 2011
16
Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder. 6
21935370 2011
17
Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy. 6
20504331 2010
18
Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever! 6
20230791 2010
19
Mutations in the OTOF gene in Taiwanese patients with auditory neuropathy. 6
20224275 2010
20
Novel OTOF mutations in Brazilian patients with auditory neuropathy. 57
19461658 2009
21
Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan. 57
19250381 2009
22
A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy. 6
18381613 2008
23
Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse. 57
17055430 2006
24
Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF). 6
14635104 2003
25
Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness. 6
12127154 2002
26
OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9. 6
10903124 2000
27
Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus. 6
10878664 2000
28
A second middle eastern kindred with autosomal recessive non-syndromic hearing loss segregates DFNB9. 57
9781041 1998
29
Auditory neuropathy. 57
8673487 1996
30
A gene responsible for a sensorineural nonsyndromic recessive deafness maps to chromosome 2p22-23. 57
8789454 1996
31
An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6. 57
8593615 1995
32
Differential expression of otoferlin in brain, vestibular system, immature and mature cochlea of the rat. 61
17229086 2006

Variations for Deafness, Autosomal Recessive 9

ClinVar genetic disease variations for Deafness, Autosomal Recessive 9:

6 (show top 50) (show all 330)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 OTOF NM_194248.3(OTOF):c.2977_2978del (p.Gln994fs) Microsatellite association 179828 rs397515597 GRCh37: 2:26698795-26698796
GRCh38: 2:26475927-26475928
2 OTOF NM_194248.3(OTOF):c.1544T>C (p.Ile515Thr) SNV Pathogenic, association 6143 rs80356586 GRCh37: 2:26705309-26705309
GRCh38: 2:26482441-26482441
3 OTOF NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr) SNV association 48240 rs111033405 GRCh37: 2:26688621-26688621
GRCh38: 2:26465753-26465753
4 OTOF NM_194248.3(OTOF):c.4819C>T (p.Arg1607Trp) SNV association 65806 rs397515603 GRCh37: 2:26687878-26687878
GRCh38: 2:26465010-26465010
5 OTOF NM_194248.3(OTOF):c.5407GAG[1] (p.Glu1804del) Microsatellite association 65810 rs397515607 GRCh37: 2:26684685-26684687
GRCh38: 2:26461817-26461819
6 OTOF NM_194248.3(OTOF):c.4467dup (p.Ile1490fs) Duplication association 208019 rs797044816 GRCh37: 2:26689614-26689615
GRCh38: 2:26466746-26466747
7 OTOF NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter) SNV Pathogenic, association 6137 rs80356593 GRCh37: 2:26700078-26700078
GRCh38: 2:26477210-26477210
8 OTOF NM_194248.3(OTOF):c.1544T>C (p.Ile515Thr) SNV Pathogenic 6143 rs80356586 GRCh37: 2:26705309-26705309
GRCh38: 2:26482441-26482441
9 OTOF NM_194248.3(OTOF):c.227+1G>C SNV Pathogenic 1031782 GRCh37: 2:26750699-26750699
GRCh38: 2:26527831-26527831
10 OTOF NM_194248.3(OTOF):c.3965_3966insGGGA (p.Asp1322fs) Insertion Pathogenic 1031783 GRCh37: 2:26693518-26693519
GRCh38: 2:26470650-26470651
11 OTOF NM_194248.3(OTOF):c.5093del (p.Gly1698fs) Deletion Pathogenic 1031784 GRCh37: 2:26686842-26686842
GRCh38: 2:26463974-26463974
12 OTOF NM_194248.3(OTOF):c.5196C>A (p.Tyr1732Ter) SNV Pathogenic 1031785 GRCh37: 2:26685046-26685046
GRCh38: 2:26462178-26462178
13 OTOF NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter) SNV Pathogenic 21831 rs80356590 GRCh37: 2:26702224-26702224
GRCh38: 2:26479356-26479356
14 OTOF NM_194248.3(OTOF):c.2348del (p.Gly783fs) Deletion Pathogenic 21834 rs80356591 GRCh37: 2:26700342-26700342
GRCh38: 2:26477474-26477474
15 OTOF NM_194248.3(OTOF):c.4483C>T (p.Arg1495Ter) SNV Pathogenic 65804 rs147321712 GRCh37: 2:26689599-26689599
GRCh38: 2:26466731-26466731
16 OTOF NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln) SNV Pathogenic 48253 rs199766465 GRCh37: 2:26686837-26686837
GRCh38: 2:26463969-26463969
17 OTOF NM_194248.3(OTOF):c.2887C>T (p.Arg963Ter) SNV Pathogenic 21840 rs80356595 GRCh37: 2:26698886-26698886
GRCh38: 2:26476018-26476018
18 OTOF NM_194248.3(OTOF):c.2239G>T (p.Glu747Ter) SNV Pathogenic 65787 rs397515591 GRCh37: 2:26700593-26700593
GRCh38: 2:26477725-26477725
19 OTOF NM_194248.3(OTOF):c.5800dup (p.Leu1934fs) Duplication Pathogenic 65812 rs397515609 GRCh37: 2:26683527-26683528
GRCh38: 2:26460659-26460660
20 OTOF NM_194248.3(OTOF):c.4491T>A (p.Tyr1497Ter) SNV Pathogenic 6133 rs80356600 GRCh37: 2:26689591-26689591
GRCh38: 2:26466723-26466723
21 OTOF NM_194248.3(OTOF):c.4747C>T (p.Arg1583Cys) SNV Pathogenic 402270 rs781688103 GRCh37: 2:26688592-26688592
GRCh38: 2:26465724-26465724
22 OTOF NM_194248.3(OTOF):c.4030C>T (p.Arg1344Ter) SNV Pathogenic 402271 rs1060499805 GRCh37: 2:26691336-26691336
GRCh38: 2:26468468-26468468
23 OTOF NM_194248.3(OTOF):c.5466C>G (p.Tyr1822Ter) SNV Pathogenic 446440 rs753580324 GRCh37: 2:26684631-26684631
GRCh38: 2:26461763-26461763
24 OTOF NM_194248.3(OTOF):c.*20G>A SNV Pathogenic 548986 rs201326023 GRCh37: 2:26681086-26681086
GRCh38: 2:26458218-26458218
25 OTOF NM_194248.3(OTOF):c.2989G>T (p.Glu997Ter) SNV Pathogenic 627468 rs1558482554 GRCh37: 2:26698784-26698784
GRCh38: 2:26475916-26475916
26 OTOF NM_194248.3(OTOF):c.2443del (p.Gln815fs) Deletion Pathogenic 634820 rs1558485249 GRCh37: 2:26700120-26700120
GRCh38: 2:26477252-26477252
27 OTOF NM_194248.3(OTOF):c.*196T>C SNV Pathogenic 916017 GRCh37: 2:26680910-26680910
GRCh38: 2:26458042-26458042
28 overlap with 3 genes NC_000016.9:g.(21575218_21624036)_(21747738_21777910)del Deletion Pathogenic 634823 GRCh37: 16:21575218-21777910
GRCh38:
29 OTOF NM_194248.3(OTOF):c.4362+1G>C SNV Pathogenic 634822 rs1274464930 GRCh37: 2:26689966-26689966
GRCh38: 2:26467098-26467098
30 OTOF NM_194248.3(OTOF):c.5788G>T (p.Glu1930Ter) SNV Pathogenic 977921 GRCh37: 2:26683540-26683540
GRCh38: 2:26460672-26460672
31 OTOF NM_194248.3(OTOF):c.5193-1G>A SNV Pathogenic 48256 rs111033373 GRCh37: 2:26685050-26685050
GRCh38: 2:26462182-26462182
32 OTOF NM_194248.3(OTOF):c.5815C>T (p.Arg1939Trp) SNV Pathogenic 65813 rs368790049 GRCh37: 2:26683072-26683072
GRCh38: 2:26460204-26460204
33 RAI1 NM_030665.4(RAI1):c.5254G>A (p.Gly1752Arg) SNV Pathogenic 212012 rs755572135 GRCh37: 17:17701516-17701516
GRCh38: 17:17798202-17798202
34 OTOF NM_194248.3(OTOF):c.4809C>A (p.Tyr1603Ter) SNV Pathogenic 65805 rs143939430 GRCh37: 2:26687888-26687888
GRCh38: 2:26465020-26465020
35 OTOF NM_194248.3(OTOF):c.5197G>A (p.Glu1733Lys) SNV Pathogenic 65808 rs397515605 GRCh37: 2:26685045-26685045
GRCh38: 2:26462177-26462177
36 OTOF NM_194248.3(OTOF):c.*19C>T SNV Pathogenic 562079 rs530821443 GRCh37: 2:26681087-26681087
GRCh38: 2:26458219-26458219
37 OTOF NM_194248.3(OTOF):c.1904T>A (p.Val635Asp) SNV Pathogenic 562082 rs1558488902 GRCh37: 2:26703079-26703079
GRCh38: 2:26480211-26480211
38 OTOF NM_194248.3(OTOF):c.5714G>T (p.Gly1905Val) SNV Pathogenic 562085 rs1558464965 GRCh37: 2:26683614-26683614
GRCh38: 2:26460746-26460746
39 OTOF OTOF, 1-BP DEL, 1778G Deletion Pathogenic 6139 GRCh37:
GRCh38:
40 OTOF NM_194248.3(OTOF):c.766-2A>G SNV Pathogenic 6134 rs80356584 GRCh37: 2:26717943-26717943
GRCh38: 2:26495075-26495075
41 OTOF OTOF, IVS5, G-A, +1 SNV Pathogenic 6135 GRCh37:
GRCh38:
42 OTOF NM_194248.3(OTOF):c.1469C>A (p.Pro490Gln) SNV Pathogenic 21823 rs80356585 GRCh37: 2:26705384-26705384
GRCh38: 2:26482516-26482516
43 OTOF NM_194248.3(OTOF):c.1651del (p.Glu551fs) Deletion Pathogenic 21825 rs80356587 GRCh37: 2:26703806-26703806
GRCh38: 2:26480938-26480938
44 OTOF NM_194248.3(OTOF):c.2214+1G>T SNV Pathogenic 21832 rs80356589 GRCh37: 2:26702131-26702131
GRCh38: 2:26479263-26479263
45 OTOF NM_194248.1:c.5860_5862delATC Deletion Pathogenic 21862 GRCh37:
GRCh38:
46 OTOF NM_194248.3(OTOF):c.1621G>A (p.Gly541Ser) SNV Pathogenic 40177 rs397515435 GRCh37: 2:26703836-26703836
GRCh38: 2:26480968-26480968
47 OTOF NM_194248.3(OTOF):c.1236del (p.Glu413fs) Deletion Pathogenic 65775 rs397515581 GRCh37: 2:26706486-26706486
GRCh38: 2:26483618-26483618
48 OTOF NM_194248.3(OTOF):c.1273C>T (p.Arg425Ter) SNV Pathogenic 65776 rs397515582 GRCh37: 2:26706449-26706449
GRCh38: 2:26483581-26483581
49 OTOF NM_194248.3(OTOF):c.1552_1567del (p.Arg518fs) Deletion Pathogenic 65777 rs1443739332 GRCh37: 2:26705286-26705301
GRCh38: 2:26482418-26482433
50 OTOF NM_194248.1:c.1912-2C>T SNV Pathogenic 65785 GRCh37:
GRCh38:

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

72 (show all 12)
# 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

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:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.2 TMPRSS3 TMC1 TECTA SYT3 SYT1 SLC26A4
2 integral component of membrane GO:0016021 10 TMPRSS3 TMC1 TECTA SYT3 SYT1 SLC26A4
3 cytoplasmic vesicle GO:0031410 9.56 SYT3 SYT1 SLC17A8 RAB8B OTOF MYOF
4 synaptic vesicle membrane GO:0030672 9.43 SYT1 SLC17A8 OTOF
5 stereocilium base GO:0120044 8.8 TRIOBP PJVK MYO7A

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 actin filament organization GO:0007015 9.73 TRIOBP MYO7A MYO15A
2 synaptic vesicle exocytosis GO:0016079 9.55 SYT1 OTOF
3 positive regulation of dendrite extension GO:1903861 9.54 SYT3 SYT1
4 myoblast fusion GO:0007520 9.52 MYOF FER1L5
5 negative regulation of phagocytosis GO:0050765 9.51 FER1L5 DYSF
6 plasma membrane repair GO:0001778 9.5 MYOF FER1L5 DYSF
7 vesicle transport along actin filament GO:0030050 9.49 MYO7A MYO15A
8 regulation of calcium ion-dependent exocytosis GO:0017158 9.48 SYT3 SYT1
9 auditory receptor cell stereocilium organization GO:0060088 9.46 TRIOBP MYO7A
10 membrane fusion GO:0061025 9.46 OTOF MYOF FER1L5 DYSF
11 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.43 TMC1 PJVK
12 T-tubule organization GO:0033292 9.43 MYOF FER1L5 DYSF
13 macrophage activation involved in immune response GO:0002281 9.4 FER1L5 DYSF
14 monocyte activation involved in immune response GO:0002280 9.37 FER1L5 DYSF
15 sensory perception of sound GO:0007605 9.36 TRIOBP TMPRSS3 TMC1 TECTA SLC26A4 SLC17A8
16 plasma membrane organization GO:0007009 9.35 OTOF MYOF FER1L6 FER1L5 DYSF

Molecular functions related to Deafness, Autosomal Recessive 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.43 SYT3 SYT1 OTOF GJB2 FER1L5 DYSF
2 phospholipid binding GO:0005543 9.33 SYT1 MYOF DYSF
3 actin-dependent ATPase activity GO:0030898 9.26 MYO7A MYO15A
4 calcium-dependent phospholipid binding GO:0005544 8.92 SYT3 SYT1 FER1L5 DYSF

Sources for Deafness, Autosomal Recessive 9

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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