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DFNB8
MCID: DFN352
MIFTS: 37

Deafness, Autosomal Recessive 8 (DFNB8)

Categories: Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Deafness, Autosomal Recessive 8

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MalaCards integrated aliases for Deafness, Autosomal Recessive 8:

Name: Deafness, Autosomal Recessive 8 57 29 6
Neurosensory Nonsyndromic Recessive Deafness 8 57 12 72
Dfnb10 57 12 72
Dfnb8 57 12 72
Deafness, Childhood-Onset Neurosensory, Autosomal Recessive 8 57 70
Autosomal Recessive Nonsyndromic Deafness 8 12 15
Deafness, Autosomal Recessive 8/10 57 13
Deafness, Autosomal Recessive 10 57 70
Nsrd8 57 72
Deafness, Childhood-Onset Neurosensory, Autosomal Recessive 8; Dfnb8 57
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 8 72
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 8 72
Childhood-Onset Neurosensory Autosomal Recessive Deafness 8 12
Childhood-Onset Neurosensory Deafness Autosomal Recessive 8 72
Neurosensory Nonsyndromic Recessive Deafness 8; Nsrd8 57
Deafness Neurosensory Autosomal Recessive 8 72
Deafness, Autosomal Recessive 10; Dfnb10 57
Deafness, Autosomal Recessive, Type 8/10 39
Deafness Autosomal Recessive 8/10 72
Deafness, Autosomal Recessive, 8 72
Autosomal Recessive Deafness 10 12
Deafness Autosomal Recessive 10 72
Autosomal Recessive Deafness 8 12
Nrsd8 12

Characteristics:

OMIM®:

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


HPO:

31
deafness, autosomal recessive 8:
Inheritance autosomal recessive inheritance
Onset and clinical course childhood onset


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Ear diseases Neuronal diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:0110527
OMIM® 57 601072
OMIM Phenotypic Series 57 PS220290
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C1832827
SNOMED-CT via HPO 68 258211005 60700002
UMLS 70 C1832827 C1854414
Sources

Summaries for Deafness, Autosomal Recessive 8

About this section
UniProtKB/Swiss-Prot : 72 Deafness, autosomal recessive, 8: 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 8, also known as neurosensory nonsyndromic recessive deafness 8, is related to branchiootic syndrome 1 and autosomal recessive nonsyndromic deafness. An important gene associated with Deafness, Autosomal Recessive 8 is TMPRSS3 (Transmembrane Serine Protease 3). Related phenotypes are sensorineural hearing impairment and hearing/vestibular/ear

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the TMPRSS3 gene on chromosome 21q22.

More information from OMIM: 601072 PS220290
Sources

Related Diseases for Deafness, Autosomal Recessive 8

About this section

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 8 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 1 29.4 TMC1 PJVK OTOF LOXHD1 GJB2
2 autosomal recessive nonsyndromic deafness 29.1 TMPRSS3 TMC1 OTOF MYO15A GJB2
3 rare genetic deafness 28.5 TMPRSS3 TMC1 PJVK OTOF MYO15A LOXHD1
4 autosomal recessive non-syndromic sensorineural deafness type dfnb 28.0 TSPEAR TMPRSS3 TMC1 PJVK OTOF MYO15A
5 petroclival meningioma 10.3 TMPRSS4 TMPRSS3
6 skull base cancer 10.2 TMPRSS3 SERPINA3
7 skull base meningioma 10.2 TMPRSS3 SERPINA3
8 deafness, autosomal dominant 7 10.2 TMPRSS4 TMPRSS3
9 usher syndrome, type ic 10.1 TMC1 GJB2
10 y-linked deafness 10.1 TMC1 OTOF
11 nonsyndromic deafness 10.1
12 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
13 deafness, autosomal recessive 98 10.1 TSPEAR TMPRSS4 TMPRSS3
14 dfnb1 10.1 OTOF GJB2
15 deafness, autosomal recessive 29 10.1 TSPEAR GJB2
16 deafness, autosomal recessive 3 10.1 MYO15A GJB2
17 deafness, autosomal dominant 67 10.1 OTOF GJB2
18 deafness, autosomal dominant 6 10.0 MYO15A GJB2
19 meniere disease 10.0 SERPINA3 GJB2
20 y-linked monogenic disease 10.0 TMPRSS3 TMC1 OTOF
21 deafness, autosomal recessive 1b 10.0 MYO15A GJB2
22 deafness, autosomal recessive 39 10.0 TMPRSS3 LOXHD1 GJB2
23 deafness, autosomal recessive 35 9.9 TMPRSS3 PJVK
24 deafness, autosomal recessive 27 9.9 TMC1 PJVK
25 glycerol kinase deficiency 9.9
26 corneal disease 9.9 SERPINA3 LOXHD1 GJB2
27 deafness, autosomal dominant 11 9.9 MYO15A GJB2
28 x-linked nonsyndromic deafness 9.9 OTOF GJB2
29 candidiasis 9.9
30 polyendocrinopathy 9.9
31 deafness, autosomal dominant 1, with or without thrombocytopenia 9.9 MYO15A GJB2
32 deafness, autosomal recessive 28 9.9 OTOF MYO15A
33 deafness, autosomal recessive 79 9.9 TMC1 MYO15A GJB2
34 deafness, autosomal recessive 23 9.9 TMC1 MYO15A GJB2
35 deafness, autosomal recessive 85 9.8 PJVK OTOF
36 auditory neuropathy spectrum disorder 9.8 PJVK OTOF
37 middle ear disease 9.8 SERPINA3 GJB2
38 deafness, autosomal recessive 59 9.8 PJVK OTOF
39 deafness, autosomal recessive 13 9.8 TMPRSS3 TMC1 PJVK
40 usher syndrome, type iia 9.8 TMPRSS3 TMC1 OTOF GJB2
41 non-syndromic genetic deafness 9.8 OTOF MYO15A GJB2
42 deafness, autosomal recessive 22 9.7 PJVK MYO15A
43 inner ear disease 9.7 OTOF MYO15A GJB2
44 waardenburg's syndrome 9.7 OTOF MYO15A GJB2
45 deafness, autosomal recessive 24 9.7 PJVK MYO15A
46 deafness, autosomal recessive 15 9.7 PJVK MYO15A
47 deafness, autosomal recessive 93 9.7 PJVK OTOF GJB2
48 deafness, autosomal recessive 25 9.7 TMPRSS3 PJVK MYO15A
49 auditory neuropathy, autosomal dominant, 1 9.7 PJVK OTOF GJB2
50 vestibular disease 9.6 TMPRSS3 OTOF MYO15A GJB2

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 8:



Diseases related to Deafness, Autosomal Recessive 8
Sources

Symptoms & Phenotypes for Deafness, Autosomal Recessive 8

About this section

Human phenotypes related to Deafness, Autosomal Recessive 8:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Misc:
childhood onset

Ears:
neurosensory deafness

Clinical features from OMIM®:

601072 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 8:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.17 CLRN2 GJB2 MYO15A OTOF PJVK TMC1
Sources

Drugs & Therapeutics for Deafness, Autosomal Recessive 8

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Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 8

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Genetic Tests for Deafness, Autosomal Recessive 8

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Genetic tests related to Deafness, Autosomal Recessive 8:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 8 29 TMPRSS3
Sources

Anatomical Context for Deafness, Autosomal Recessive 8

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Sources

Publications for Deafness, Autosomal Recessive 8

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Articles related to Deafness, Autosomal Recessive 8:

(show all 35)
# Title Authors PMID Year
1
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein. 6 57 61
16021470 2005
2
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. 61 6 57
11907649 2002
3
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. 6 57 61
11137999 2001
4
Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment. 61 6
28246597 2017
5
A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation. 61 6
24526180 2014
6
Genetic analysis of TMPRSS3 gene in the Korean population with autosomal recessive nonsyndromic hearing loss. 6 61
23958653 2013
7
Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations. 61 6
21786053 2011
8
Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings. 6 61
17551081 2007
9
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan. 61 6
15447792 2004
10
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness. 61 6
11462234 2001
11
Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan. 57 61
8789456 1996
12
TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss. 6
26036852 2016
13
Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients. 6
23967202 2013
14
Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis. 6
22975204 2012
15
Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment. 6
21534946 2012
16
Coexistence of Unverricht-Lundborg disease and congenital deafness: molecular resolution of a complex comorbidity. 6
19170735 2009
17
Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing. 6
16283880 2005
18
Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region. 57
10950923 2000
19
Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3. 57
8651303 1996
20
Identification of a complex genomic rearrangement in TMPRSS3 by massively parallel sequencing in Chinese cases with prelingual hearing loss. 61
31016883 2019
21
Expression of trans-membrane serine protease 3 (TMPRSS3) in the human organ of Corti. 61
29460002 2018
22
Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population. 61
28695016 2017
23
Molecular Distribution of Deafness Loci in Various Ethnic Groups of the Punjab, Pakistan. 61
26305302 2015
24
Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness. 61
22678063 2012
25
Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss. 61
22382023 2012
26
Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing. 61
21454591 2011
27
TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness. 61
17981648 2008
28
A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1-14q24.3 in large consanguineous kindred from Pakistan. 61
12529709 2003
29
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro. 61
12393794 2002
30
Hereditary deafness and phenotyping in humans. 61
12324385 2002
31
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness. 61
11424922 2001
32
Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3. 61
10868228 2000
33
Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis. 61
9465297 1998
34
Immunochemical characterization of a novel mitochondrially located protein encoded by a nuclear gene within the DFNB8/10 critical region on 21q22.3. 61
9325172 1997
35
Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3. 61
9150728 1997
Sources

Variations for Deafness, Autosomal Recessive 8

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ClinVar genetic disease variations for Deafness, Autosomal Recessive 8:

6 (show top 50) (show all 113)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TMPRSS3 TMPRSS3, 8-BP DEL, SATELLITE REPEAT INS Indel Pathogenic 4942 GRCh37:
GRCh38:
2 TMPRSS3 TMPRSS3, IVS4AS, G-A, -6 SNV Pathogenic 4943 GRCh37:
GRCh38:
3 TMPRSS3 NM_024022.3(TMPRSS3):c.1211C>T (p.Pro404Leu) SNV Pathogenic 4945 rs28939084 GRCh37: 21:43795961-43795961
GRCh38: 21:42375852-42375852
4 TMPRSS3 NM_024022.3(TMPRSS3):c.647G>T (p.Arg216Leu) SNV Pathogenic 4946 rs137853000 GRCh37: 21:43803277-43803277
GRCh38: 21:42383168-42383168
5 TMPRSS3 TMPRSS3, 1-BP DEL, 207C Deletion Pathogenic 30492 GRCh37:
GRCh38:
6 TMPRSS3 NM_032404.2(TMPRSS3):c.-74A>G SNV Pathogenic 30493 rs387906915 GRCh37: 21:43809052-43809052
GRCh38: 21:42388943-42388943
7 TMPRSS3 NM_032405.2(TMPRSS3):c.582T>A (p.Cys194Ter) SNV Pathogenic 402283 rs1060499811 GRCh37: 21:43804113-43804113
GRCh38: 21:42384004-42384004
8 TMPRSS3 NM_001256317.3(TMPRSS3):c.1192-1G>C SNV Pathogenic 828127 rs1601514990 GRCh37: 21:43795978-43795978
GRCh38: 21:42375869-42375869
9 TMPRSS3 NM_024022.3(TMPRSS3):c.1048+1G>A SNV Pathogenic 627482 rs1429442821 GRCh37: 21:43800225-43800225
GRCh38: 21:42380116-42380116
10 TMPRSS3 NM_024022.3(TMPRSS3):c.783-1G>T SNV Pathogenic 562094 rs1237955948 GRCh37: 21:43802344-43802344
GRCh38: 21:42382235-42382235
11 TMPRSS3 NM_001256317.3(TMPRSS3):c.916G>A (p.Ala306Thr) SNV Pathogenic 46131 rs181949335 GRCh37: 21:43802210-43802210
GRCh38: 21:42382101-42382101
12 TMPRSS3 NM_024022.3(TMPRSS3):c.753G>C (p.Trp251Cys) SNV Pathogenic 4944 rs137852999 GRCh37: 21:43803171-43803171
GRCh38: 21:42383062-42383062
13 TMPRSS3 NM_001256317.3(TMPRSS3):c.579dup (p.Cys194fs) Duplication Pathogenic 517148 rs397517376 GRCh37: 21:43804115-43804116
GRCh38: 21:42384006-42384007
14 TMPRSS3 NM_001256317.3(TMPRSS3):c.1360T>C (p.Ter454Arg) SNV Pathogenic 1032152 GRCh37: 21:43792873-43792873
GRCh38: 21:42372764-42372764
15 TMPRSS3 NM_024022.3(TMPRSS3):c.208del (p.His70fs) Deletion Pathogenic/Likely pathogenic 165492 rs727503493 GRCh37: 21:43809152-43809152
GRCh38: 21:42389043-42389043
16 TMPRSS3 NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) SNV Pathogenic/Likely pathogenic 46102 rs56264519 GRCh37: 21:43795896-43795896
GRCh38: 21:42375787-42375787
17 TMPRSS3 NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) SNV Pathogenic/Likely pathogenic 46119 rs147231991 GRCh37: 21:43808545-43808545
GRCh38: 21:42388436-42388436
18 TMPRSS3 NM_024022.3(TMPRSS3):c.316C>T (p.Arg106Cys) SNV Likely pathogenic 381714 rs139805921 GRCh37: 21:43809044-43809044
GRCh38: 21:42388935-42388935
19 TMPRSS3 NM_001256317.3(TMPRSS3):c.323-6G>A SNV Likely pathogenic 46113 rs374793617 GRCh37: 21:43808641-43808641
GRCh38: 21:42388532-42388532
20 TMPRSS3 NM_024022.3(TMPRSS3):c.346G>A (p.Val116Met) SNV Likely pathogenic 432009 rs200090033 GRCh37: 21:43808612-43808612
GRCh38: 21:42388503-42388503
21 TMPRSS3 NM_001256317.3(TMPRSS3):c.727G>A (p.Gly243Arg) SNV Likely pathogenic 178549 rs372526764 GRCh37: 21:43803197-43803197
GRCh38: 21:42383088-42383088
22 TMPRSS3 NM_001256317.3(TMPRSS3):c.771C>A (p.His257Gln) SNV Likely pathogenic 974621 GRCh37: 21:43803153-43803153
GRCh38: 21:42383044-42383044
23 TMPRSS3 NM_001256317.3(TMPRSS3):c.1119C>T (p.Asp373=) SNV Uncertain significance 46097 rs113747896 GRCh37: 21:43796722-43796722
GRCh38: 21:42376613-42376613
24 TMPRSS3 NM_024022.3(TMPRSS3):c.715T>C (p.Tyr239His) SNV Uncertain significance 340059 rs149001183 GRCh37: 21:43803209-43803209
GRCh38: 21:42383100-42383100
25 TMPRSS3 NM_001256317.3(TMPRSS3):c.212T>C (p.Phe71Ser) SNV Uncertain significance 225495 rs185332310 GRCh37: 21:43809148-43809148
GRCh38: 21:42389039-42389039
26 TMPRSS3 NM_001256317.3(TMPRSS3):c.1042G>A (p.Asp348Asn) SNV Uncertain significance 46094 rs111033261 GRCh37: 21:43800232-43800232
GRCh38: 21:42380123-42380123
27 TMPRSS3 NM_024022.3(TMPRSS3):c.1238G>A (p.Trp413Ter) SNV Uncertain significance 632380 rs778939088 GRCh37: 21:43795934-43795934
GRCh38: 21:42375825-42375825
28 TMPRSS3 NM_001256317.3(TMPRSS3):c.1148T>A (p.Met383Lys) SNV Uncertain significance 873474 GRCh37: 21:43796693-43796693
GRCh38: 21:42376584-42376584
29 TMPRSS3 NM_001256317.3(TMPRSS3):c.*476C>T SNV Uncertain significance 895473 GRCh37: 21:43792395-43792395
GRCh38: 21:42372286-42372286
30 TMPRSS3 NM_001256317.3(TMPRSS3):c.*429C>A SNV Uncertain significance 895474 GRCh37: 21:43792442-43792442
GRCh38: 21:42372333-42372333
31 TMPRSS3 NM_001256317.3(TMPRSS3):c.*411C>A SNV Uncertain significance 895475 GRCh37: 21:43792460-43792460
GRCh38: 21:42372351-42372351
32 TMPRSS3 NM_001256317.3(TMPRSS3):c.*334G>A SNV Uncertain significance 895476 GRCh37: 21:43792537-43792537
GRCh38: 21:42372428-42372428
33 TMPRSS3 NM_001256317.3(TMPRSS3):c.1019C>T (p.Thr340Met) SNV Uncertain significance 895546 GRCh37: 21:43800255-43800255
GRCh38: 21:42380146-42380146
34 TMPRSS3 NM_001256317.3(TMPRSS3):c.1004G>C (p.Gly335Ala) SNV Uncertain significance 895547 GRCh37: 21:43800270-43800270
GRCh38: 21:42380161-42380161
35 TMPRSS3 NM_001256317.3(TMPRSS3):c.856T>A (p.Leu286Met) SNV Uncertain significance 895548 GRCh37: 21:43802270-43802270
GRCh38: 21:42382161-42382161
36 TMPRSS3 NM_001256317.3(TMPRSS3):c.789C>T (p.Tyr263=) SNV Uncertain significance 178683 rs147181936 GRCh37: 21:43802337-43802337
GRCh38: 21:42382228-42382228
37 TMPRSS3 NM_001256317.3(TMPRSS3):c.-78T>A SNV Uncertain significance 895619 GRCh37: 21:43816077-43816077
GRCh38: 21:42395968-42395968
38 TMPRSS3 NM_001256317.3(TMPRSS3):c.573-8C>T SNV Uncertain significance 896948 GRCh37: 21:43804130-43804130
GRCh38: 21:42384021-42384021
39 TMPRSS3 NM_001256317.3(TMPRSS3):c.450T>C (p.Tyr150=) SNV Uncertain significance 896949 GRCh37: 21:43805640-43805640
GRCh38: 21:42385531-42385531
40 TMPRSS3 NM_001256317.3(TMPRSS3):c.*805T>C SNV Uncertain significance 897297 GRCh37: 21:43792066-43792066
GRCh38: 21:42371957-42371957
41 TMPRSS3 NM_001256317.3(TMPRSS3):c.*782G>A SNV Uncertain significance 897298 GRCh37: 21:43792089-43792089
GRCh38: 21:42371980-42371980
42 TMPRSS3 NM_001256317.3(TMPRSS3):c.*777G>T SNV Uncertain significance 897299 GRCh37: 21:43792094-43792094
GRCh38: 21:42371985-42371985
43 TMPRSS3 NM_001256317.3(TMPRSS3):c.*755G>T SNV Uncertain significance 897300 GRCh37: 21:43792116-43792116
GRCh38: 21:42372007-42372007
44 TMPRSS3 NM_001256317.3(TMPRSS3):c.*750C>A SNV Uncertain significance 897301 GRCh37: 21:43792121-43792121
GRCh38: 21:42372012-42372012
45 TMPRSS3 NM_001256317.3(TMPRSS3):c.*53G>A SNV Uncertain significance 897375 GRCh37: 21:43792818-43792818
GRCh38: 21:42372709-42372709
46 TMPRSS3 NM_001256317.3(TMPRSS3):c.1344+9G>A SNV Uncertain significance 897376 GRCh37: 21:43795816-43795816
GRCh38: 21:42375707-42375707
47 TMPRSS3 NM_001256317.3(TMPRSS3):c.1344+8C>T SNV Uncertain significance 897377 GRCh37: 21:43795817-43795817
GRCh38: 21:42375708-42375708
48 TMPRSS3 NM_001256317.3(TMPRSS3):c.1340T>C (p.Met447Thr) SNV Uncertain significance 46104 rs201018751 GRCh37: 21:43795829-43795829
GRCh38: 21:42375720-42375720
49 TMPRSS3 NM_024022.3(TMPRSS3):c.1306C>T (p.Arg436Cys) SNV Uncertain significance 666988 rs565348874 GRCh37: 21:43795866-43795866
GRCh38: 21:42375757-42375757
50 TMPRSS3 NM_001256317.3(TMPRSS3):c.411C>T (p.Tyr137=) SNV Uncertain significance 897438 GRCh37: 21:43808547-43808547
GRCh38: 21:42388438-42388438

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 8:

72
# Symbol AA change Variation ID SNP ID
1 TMPRSS3 p.Trp251Cys VAR_011678 rs137852999
2 TMPRSS3 p.Pro404Leu VAR_011679 rs28939084
3 TMPRSS3 p.Asp103Gly VAR_013490 rs387906915
4 TMPRSS3 p.Arg109Trp VAR_013491 rs201632198
5 TMPRSS3 p.Cys194Phe VAR_013494 rs133365177
6 TMPRSS3 p.Cys407Arg VAR_013495 rs773780151
7 TMPRSS3 p.Ala426Thr VAR_013496 rs56264519
8 TMPRSS3 p.Arg216Leu VAR_025354 rs137853000

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Expression for Deafness, Autosomal Recessive 8

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Search GEO for disease gene expression data for Deafness, Autosomal Recessive 8.
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Pathways for Deafness, Autosomal Recessive 8

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GO Terms for Deafness, Autosomal Recessive 8

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Cellular components related to Deafness, Autosomal Recessive 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.35 TSPEAR PJVK OTOF MYO15A LOXHD1
2 stereocilium GO:0032420 8.8 TSPEAR MYO15A LOXHD1

Biological processes related to Deafness, Autosomal Recessive 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.23 TSPEAR TMPRSS3 TMC1 PJVK OTOF MYO15A
2 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 8.96 TMC1 PJVK

Molecular functions related to Deafness, Autosomal Recessive 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 scavenger receptor activity GO:0005044 8.62 TMPRSS4 TMPRSS3
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Sources for Deafness, Autosomal Recessive 8

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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