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DFNB8
MCID: DFN352
MIFTS: 38

Deafness, Autosomal Recessive 8 (DFNB8)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues 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 56 29 6
Neurosensory Nonsyndromic Recessive Deafness 8 56 12 73
Dfnb10 56 12 73
Dfnb8 56 12 73
Deafness, Childhood-Onset Neurosensory, Autosomal Recessive 8 56 71
Autosomal Recessive Nonsyndromic Deafness 8 12 15
Deafness, Autosomal Recessive 8/10 56 13
Deafness, Autosomal Recessive 10 56 71
Nsrd8 56 73
Deafness, Childhood-Onset Neurosensory, Autosomal Recessive 8; Dfnb8 56
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 8 73
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 8 73
Childhood-Onset Neurosensory Autosomal Recessive Deafness 8 12
Childhood-Onset Neurosensory Deafness Autosomal Recessive 8 73
Neurosensory Nonsyndromic Recessive Deafness 8; Nsrd8 56
Deafness Neurosensory Autosomal Recessive 8 73
Deafness, Autosomal Recessive 10; Dfnb10 56
Deafness, Autosomal Recessive, Type 8/10 39
Deafness Autosomal Recessive 8/10 73
Deafness, Autosomal Recessive, 8 73
Autosomal Recessive Deafness 10 12
Deafness Autosomal Recessive 10 73
Autosomal Recessive Deafness 8 12
Nrsd8 12

Characteristics:

OMIM:

56
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 Blood diseases Neuronal diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:0110527
OMIM 56 601072
OMIM Phenotypic Series 56 PS220290
MeSH 43 D006319
ICD10 32 H90.3
MedGen 41 C1832827
SNOMED-CT via HPO 68 258211005 60700002
UMLS 71 C1832827 C1854414
Sources

Summaries for Deafness, Autosomal Recessive 8

About this section
UniProtKB/Swiss-Prot : 73 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 glycerol kinase deficiency and branchiootic syndrome 1. An important gene associated with Deafness, Autosomal Recessive 8 is TMPRSS3 (Transmembrane Serine Protease 3). Affiliated tissues include brain, and 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

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Diseases in the Rare Deafness family:

Deafness, Autosomal Dominant 1 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
Nonsyndromic Deafness 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 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 glycerol kinase deficiency 29.9 SLC37A3 SLC37A1
2 branchiootic syndrome 1 28.5 TMC1 SLC26A4 PJVK OTOF LOXHD1 GJB2
3 autosomal recessive nonsyndromic deafness 27.9 TMPRSS3 TMC1 SLC26A4 PJVK OTOF MYO15A
4 nonsyndromic deafness 27.2 TMPRSS4 TMPRSS3 TMC1 SLC26A4 PJVK OTOF
5 petroclival meningioma 10.3 TMPRSS4 TMPRSS3
6 deafness, autosomal dominant 7 10.3 TMPRSS4 TMPRSS3
7 deafness, autosomal recessive 98 10.3 TMPRSS4 TMPRSS3
8 deafness, autosomal dominant 2a 10.3 TMPRSS3 GJB2
9 deafness, autosomal recessive 3 10.3 MYO15A GJB2
10 non-syndromic genetic deafness 10.2 MYO15A GJB2
11 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
12 deafness, autosomal recessive 85 10.2 TMPRSS3 PJVK
13 deafness, autosomal dominant 1 10.2 MYO15A GJB2
14 dfnb1 10.2 OTOF GJB2
15 deafness, autosomal recessive 29 10.1 MYO15A GJB2
16 deafness, autosomal recessive 93 10.1 PJVK GJB2
17 deafness, autosomal recessive 28 10.1 OTOF MYO15A
18 deafness, autosomal dominant 67 10.1 OTOF GJB2
19 deafness, autosomal recessive 13 10.1 TMC1 PJVK
20 deafness, autosomal dominant 17 10.1 OTOF MYO15A
21 deafness, autosomal recessive 27 10.1 TMC1 PJVK
22 deafness, autosomal dominant 11 10.1 MYO15A GJB2
23 deafness, autosomal recessive 39 10.1 LOXHD1 GJB2
24 deafness, autosomal recessive 6 10.1 TMPRSS4 TMPRSS3 TMC1
25 usher syndrome, type ic 10.1 TMC1 GJB2
26 auditory neuropathy spectrum disorder 10.1 PJVK OTOF
27 deafness, autosomal dominant 25 10.1 OTOF GJB2
28 deafness, autosomal recessive 30 10.0 PJVK MYO15A
29 deafness, autosomal recessive 15 10.0 PJVK MYO15A
30 deafness, autosomal recessive 79 10.0 TMC1 MYO15A GJB2
31 branchiootic syndrome 10.0 SLC26A4 GJB2
32 deafness, autosomal recessive 23 9.9 TMC1 MYO15A GJB2
33 deafness, autosomal recessive 25 9.9 TMPRSS3 PJVK MYO15A
34 deafness, autosomal recessive 35 9.9 TMPRSS3 PJVK MYO15A
35 deafness, autosomal dominant 2b 9.9 SLC26A4 GJB2
36 labyrinthitis 9.9 SLC26A4 GJB2
37 deafness, autosomal recessive 49 9.9 PJVK MYO15A GJB2
38 deafness, autosomal dominant 56 9.9 SLC26A4 GJB2
39 autosomal dominant non-syndromic sensorineural deafness type dfna 9.8 TMC1 GJB2
40 deafness, autosomal recessive 63 9.8 TMC1 PJVK MYO15A
41 deafness, autosomal recessive 59 9.8 PJVK OTOF GJB2
42 glycogen storage disease ia 9.8 SLC37A3 SLC37A1
43 auditory neuropathy, autosomal dominant, 1 9.8 PJVK OTOF GJB2
44 ear malformation 9.8 SLC26A4 GJB2
45 deafness, autosomal recessive 22 9.8 PJVK OTOF MYO15A
46 deafness, autosomal recessive 61 9.8 SLC26A4 OTOF
47 deafness, autosomal recessive 9.7 PJVK OTOF LOXHD1
48 x-linked nonsyndromic deafness 9.7 SLC26A4 GJB2
49 peripheral vertigo 9.7 SLC26A4 GJB2
50 deafness, autosomal recessive 16 9.6 TMC1 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:

56
Misc:
childhood onset

Ears:
neurosensory deafness

Clinical features from OMIM:

601072

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 8:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.5 GJB2 MYO15A OTOF PJVK SLC26A4 TMC1
2 nervous system MP:0003631 9.17 GJB2 MYO15A OTOF PJVK SLC26A4 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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MalaCards organs/tissues related to Deafness, Autosomal Recessive 8:

40
Brain
Sources

Publications for Deafness, Autosomal Recessive 8

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Articles related to Deafness, Autosomal Recessive 8:

(show all 30)
# Title Authors PMID Year
1
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein. 61 56 6
16021470 2005
2
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. 61 56 6
11907649 2002
3
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. 61 56 6
11137999 2001
4
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness. 61 6
11462234 2001
5
Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan. 61 56
8789456 1996
6
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. 56
10950923 2000
7
Hereditary Hearing Loss and Deafness Overview 6
20301607 1999
8
Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3. 56
8651303 1996
9
Identification of a complex genomic rearrangement in TMPRSS3 by massively parallel sequencing in Chinese cases with prelingual hearing loss. 61
31016883 2019
10
Expression of trans-membrane serine protease 3 (TMPRSS3) in the human organ of Corti. 61
29460002 2018
11
Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population. 61
28695016 2017
12
Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment. 61
28246597 2017
13
Molecular Distribution of Deafness Loci in Various Ethnic Groups of the Punjab, Pakistan. 61
26305302 2015
14
A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation. 61
24526180 2014
15
Genetic analysis of TMPRSS3 gene in the Korean population with autosomal recessive nonsyndromic hearing loss. 61
23958653 2013
16
Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness. 61
22678063 2012
17
Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss. 61
22382023 2012
18
Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations. 61
21786053 2011
19
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
20
TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness. 61
17981648 2008
21
Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings. 61
17551081 2007
22
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan. 61
15447792 2004
23
A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1-14q24.3 in large consanguineous kindred from Pakistan. 61
12529709 2003
24
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro. 61
12393794 2002
25
Hereditary deafness and phenotyping in humans. 61
12324385 2002
26
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness. 61
11424922 2001
27
Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3. 61
10868228 2000
28
Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis. 61
9465297 1998
29
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
30
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 all 20) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TMPRSS3 TMPRSS3, 8-BP DEL, SATELLITE REPEAT INSindel Pathogenic 4942
2 TMPRSS3 TMPRSS3, IVS4AS, G-A, -6SNV Pathogenic 4943
3 TMPRSS3 NM_024022.3(TMPRSS3):c.753G>C (p.Trp251Cys)SNV Pathogenic 4944 rs137852999 21:43803171-43803171 21:42383062-42383062
4 TMPRSS3 NM_024022.3(TMPRSS3):c.1211C>T (p.Pro404Leu)SNV Pathogenic 4945 rs28939084 21:43795961-43795961 21:42375852-42375852
5 TMPRSS3 NM_024022.3(TMPRSS3):c.647G>T (p.Arg216Leu)SNV Pathogenic 4946 rs137853000 21:43803277-43803277 21:42383168-42383168
6 TMPRSS3 TMPRSS3, 1-BP DEL, 207Cdeletion Pathogenic 30492
7 TMPRSS3 NM_024022.3(TMPRSS3):c.308A>G (p.Asp103Gly)SNV Pathogenic 30493 rs387906915 21:43809052-43809052 21:42388943-42388943
8 TMPRSS3 NM_024022.3(TMPRSS3):c.208del (p.His70fs)deletion Pathogenic 165492 rs727503493 21:43809152-43809152 21:42389043-42389043
9 TMPRSS3 NM_024022.3(TMPRSS3):c.916G>A (p.Ala306Thr)SNV Pathogenic 46131 rs181949335 21:43802210-43802210 21:42382101-42382101
10 TMPRSS3 NM_024022.3(TMPRSS3):c.582T>A (p.Cys194Ter)SNV Pathogenic 402283 rs1060499811 21:43804113-43804113 21:42384004-42384004
11 TMPRSS3 NM_024022.3(TMPRSS3):c.783-1G>TSNV Pathogenic 562094 rs1237955948 21:43802344-43802344 21:42382235-42382235
12 TMPRSS3 NM_024022.3(TMPRSS3):c.1048+1G>ASNV Pathogenic 627482 rs1429442821 21:43800225-43800225 21:42380116-42380116
13 TMPRSS3 NM_024022.3(TMPRSS3):c.1276G>A (p.Ala426Thr)SNV Pathogenic/Likely pathogenic 46102 rs56264519 21:43795896-43795896 21:42375787-42375787
14 TMPRSS3 NM_024022.3(TMPRSS3):c.413C>A (p.Ala138Glu)SNV Pathogenic/Likely pathogenic 46119 rs147231991 21:43808545-43808545 21:42388436-42388436
15 TMPRSS3 NM_024022.3(TMPRSS3):c.727G>A (p.Gly243Arg)SNV Likely pathogenic 178549 rs372526764 21:43803197-43803197 21:42383088-42383088
16 TMPRSS3 NM_024022.3(TMPRSS3):c.212T>C (p.Phe71Ser)SNV Conflicting interpretations of pathogenicity 225495 rs185332310 21:43809148-43809148 21:42389039-42389039
17 TMPRSS3 NM_024022.3(TMPRSS3):c.325C>T (p.Arg109Trp)SNV Conflicting interpretations of pathogenicity 46114 rs201632198 21:43808633-43808633 21:42388524-42388524
18 TMPRSS3 NM_024022.3(TMPRSS3):c.1152G>T (p.Met384Ile)SNV Uncertain significance 165482 rs727503492 21:43796692-43796692 21:42376583-42376583
19 TMPRSS3 NM_024022.3(TMPRSS3):c.1238G>A (p.Trp413Ter)SNV Uncertain significance 632380 rs778939088 21:43795934-43795934 21:42375825-42375825
20 TMPRSS3 NM_024022.3(TMPRSS3):c.1042G>A (p.Asp348Asn)SNV Uncertain significance 46094 rs111033261 21:43800232-43800232 21:42380123-42380123

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

73
# 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.Arg216Leu VAR_025354 rs137853000

Sources

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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Sources

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 integral component of plasma membrane GO:0005887 9.55 TMC1 SLC37A3 SLC37A1 SLC26A4 GJB2
2 integral component of membrane GO:0016021 9.28 TMPRSS4 TMPRSS3 TMC1 SLC37A3 SLC37A1 SLC26A4
3 stereocilium GO:0032420 8.96 MYO15A LOXHD1

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.56 SLC37A3 SLC37A1 SLC26A4 GJB2
2 carbohydrate transport GO:0008643 9.32 SLC37A3 SLC37A1
3 sensory perception of sound GO:0007605 9.23 TMPRSS3 TMC1 SLC26A4 PJVK OTOF MYO15A
4 phosphate ion transmembrane transport GO:0035435 9.16 SLC37A3 SLC37A1
5 glucose-6-phosphate transport GO:0015760 8.96 SLC37A3 SLC37A1

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 8.96 TMPRSS4 TMPRSS3
2 glucose 6-phosphate:inorganic phosphate antiporter activity GO:0061513 8.62 SLC37A3 SLC37A1
Sources

Sources for Deafness, Autosomal Recessive 8

About this section
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
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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