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

Aliases & Classifications for Deafness, Autosomal Recessive 8

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:



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

Summaries for Deafness, Autosomal Recessive 8

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 nonsyndromic deafness and glycerol kinase deficiency. 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

Related Diseases for Deafness, Autosomal Recessive 8

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
Deafness, Autosomal Dominant 75 Deafness, Autosomal Dominant 76
Deafness, Autosomal Dominant 77 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 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 73)
# Related Disease Score Top Affiliating Genes
1 nonsyndromic deafness 30.8 MYO15A GJB2
2 glycerol kinase deficiency 30.1 SLC37A3 SLC37A1
3 branchiootic syndrome 1 28.9 TMC1 PJVK OTOF LOXHD1 GJB2
4 autosomal recessive nonsyndromic deafness 28.7 TMPRSS3 TMC1 PJVK OTOF MYO15A GJB2
5 petroclival meningioma 10.4 TMPRSS4 TMPRSS3
6 deafness, autosomal dominant 7 10.3 TMPRSS4 TMPRSS3
7 skull base cancer 10.3 TMPRSS3 SERPINA3
8 skull base meningioma 10.3 TMPRSS3 SERPINA3
9 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
10 deafness, autosomal recessive 3 10.2 MYO15A GJB2
11 usher syndrome, type ic 10.1 TMC1 GJB2
12 y-linked deafness 10.1 TMC1 OTOF
13 non-syndromic genetic deafness 10.1 MYO15A GJB2
14 deafness, autosomal recessive 29 10.1 TSPEAR GJB2
15 deafness, autosomal recessive 98 10.1 TSPEAR TMPRSS4 TMPRSS3
16 dfnb1 10.1 OTOF GJB2
17 deafness, autosomal recessive 1b 10.1 MYO15A GJB2
18 deafness, autosomal recessive 23 10.0 TMC1 MYO15A
19 deafness, autosomal dominant 67 10.0 OTOF GJB2
20 deafness, autosomal recessive 27 10.0 TMC1 PJVK
21 deafness, autosomal dominant 1 10.0 MYO15A GJB2
22 deafness, autosomal dominant 11 10.0 MYO15A GJB2
23 deafness, autosomal recessive 28 10.0 OTOF MYO15A
24 y-linked monogenic disease 10.0 TMPRSS3 TMC1 OTOF
25 x-linked nonsyndromic deafness 9.9 OTOF GJB2
26 auditory neuropathy spectrum disorder 9.9 PJVK OTOF
27 middle ear disease 9.9 SERPINA3 GJB2
28 glycogen storage disease ia 9.9 SLC37A3 SLC37A1
29 deafness, autosomal recessive 79 9.9 TMC1 MYO15A GJB2
30 deafness, autosomal recessive 13 9.9 TMPRSS3 TMC1 PJVK
31 usher syndrome, type id 9.9 TMC1 MYO15A GJB2
32 usher syndrome, type iia 9.9 OTOF GJB2
33 deafness, autosomal recessive 59 9.9 PJVK OTOF
34 deafness, autosomal recessive 15 9.9 PJVK MYO15A
35 deafness, autosomal recessive 6 9.9 TMPRSS3 TMC1 PJVK
36 deafness, x-linked 5, with peripheral neuropathy 9.9 PJVK OTOF
37 deafness, autosomal recessive 24 9.9 PJVK MYO15A
38 deafness, autosomal recessive 25 9.8 TMPRSS3 PJVK MYO15A
39 deafness, autosomal recessive 35 9.8 TMPRSS3 PJVK MYO15A
40 deafness, autosomal recessive 85 9.8 TMPRSS3 PJVK OTOF
41 deafness, autosomal recessive 16 9.8 OTOF MYO15A GJB2
42 pendred syndrome 9.7 OTOF MYO15A GJB2
43 deafness, autosomal recessive 63 9.7 TMC1 PJVK MYO15A
44 autosomal dominant non-syndromic sensorineural deafness type dfna 9.7 TMC1 GJB2
45 deafness, autosomal recessive 39 9.7 TMPRSS3 LOXHD1 GJB2
46 deafness, autosomal recessive 21 9.7 PJVK MYO15A GJB2
47 deafness, autosomal recessive 49 9.7 PJVK MYO15A GJB2
48 auditory neuropathy, autosomal dominant, 1 9.7 PJVK OTOF GJB2
49 corneal disease 9.7 SERPINA3 LOXHD1 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

Symptoms & Phenotypes for Deafness, Autosomal Recessive 8

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 9.1 GJB2 MYO15A OTOF PJVK TMC1 TMPRSS3

Drugs & Therapeutics for Deafness, Autosomal Recessive 8

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

Genetic Tests for Deafness, Autosomal Recessive 8

Genetic tests related to Deafness, Autosomal Recessive 8:

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

Anatomical Context for Deafness, Autosomal Recessive 8

MalaCards organs/tissues related to Deafness, Autosomal Recessive 8:

40
Brain

Publications for Deafness, Autosomal Recessive 8

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. 6 56 61
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. 6 61
11462234 2001
5
Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan. 56 61
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

Variations for Deafness, Autosomal Recessive 8

ClinVar genetic disease variations for Deafness, Autosomal Recessive 8:

6 (show top 50) (show all 107) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TMPRSS3 NM_001256317.3(TMPRSS3):c.1192-1G>CSNV Pathogenic 828127 21:43795978-43795978 21:42375869-42375869
2 TMPRSS3 NM_024022.3(TMPRSS3):c.582T>A (p.Cys194Ter)SNV Pathogenic 402283 rs1060499811 21:43804113-43804113 21:42384004-42384004
3 TMPRSS3 NM_024022.3(TMPRSS3):c.783-1G>TSNV Pathogenic 562094 rs1237955948 21:43802344-43802344 21:42382235-42382235
4 TMPRSS3 TMPRSS3, 8-BP DEL, SATELLITE REPEAT INSindel Pathogenic 4942
5 TMPRSS3 TMPRSS3, IVS4AS, G-A, -6SNV Pathogenic 4943
6 TMPRSS3 NM_024022.3(TMPRSS3):c.753G>C (p.Trp251Cys)SNV Pathogenic 4944 rs137852999 21:43803171-43803171 21:42383062-42383062
7 TMPRSS3 NM_024022.3(TMPRSS3):c.1211C>T (p.Pro404Leu)SNV Pathogenic 4945 rs28939084 21:43795961-43795961 21:42375852-42375852
8 TMPRSS3 NM_024022.3(TMPRSS3):c.647G>T (p.Arg216Leu)SNV Pathogenic 4946 rs137853000 21:43803277-43803277 21:42383168-42383168
9 TMPRSS3 TMPRSS3, 1-BP DEL, 207Cdeletion Pathogenic 30492
10 TMPRSS3 NM_024022.3(TMPRSS3):c.308A>G (p.Asp103Gly)SNV Pathogenic 30493 rs387906915 21:43809052-43809052 21:42388943-42388943
11 TMPRSS3 NM_024022.3(TMPRSS3):c.1048+1G>ASNV Pathogenic 627482 rs1429442821 21:43800225-43800225 21:42380116-42380116
12 TMPRSS3 NM_001256317.3(TMPRSS3):c.916G>A (p.Ala306Thr)SNV Pathogenic 46131 rs181949335 21:43802210-43802210 21:42382101-42382101
13 TMPRSS3 NM_024022.3(TMPRSS3):c.208del (p.His70fs)deletion Pathogenic/Likely pathogenic 165492 rs727503493 21:43809152-43809152 21:42389043-42389043
14 TMPRSS3 NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)SNV Pathogenic/Likely pathogenic 46102 rs56264519 21:43795896-43795896 21:42375787-42375787
15 TMPRSS3 NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)SNV Pathogenic/Likely pathogenic 46119 rs147231991 21:43808545-43808545 21:42388436-42388436
16 TMPRSS3 NM_001256317.3(TMPRSS3):c.727G>A (p.Gly243Arg)SNV Likely pathogenic 178549 rs372526764 21:43803197-43803197 21:42383088-42383088
17 TMPRSS3 NM_001256317.3(TMPRSS3):c.239G>A (p.Arg80His)SNV Conflicting interpretations of pathogenicity 179855 rs146159479 21:43809121-43809121 21:42389012-42389012
18 TMPRSS3 NM_024022.3(TMPRSS3):c.326G>A (p.Arg109Gln)SNV Conflicting interpretations of pathogenicity 197857 rs139484231 21:43808632-43808632 21:42388523-42388523
19 TMPRSS3 NM_001256317.3(TMPRSS3):c.212T>C (p.Phe71Ser)SNV Conflicting interpretations of pathogenicity 225495 rs185332310 21:43809148-43809148 21:42389039-42389039
20 TMPRSS3 NM_001256317.3(TMPRSS3):c.1119C>T (p.Asp373=)SNV Conflicting interpretations of pathogenicity 46097 rs113747896 21:43796722-43796722 21:42376613-42376613
21 TMPRSS3 NM_001256317.3(TMPRSS3):c.1125C>T (p.Tyr375=)SNV Conflicting interpretations of pathogenicity 46098 rs111033292 21:43796716-43796716 21:42376607-42376607
22 TMPRSS3 NM_001256317.3(TMPRSS3):c.1272C>T (p.Cys424=)SNV Conflicting interpretations of pathogenicity 46101 rs56178910 21:43795897-43795897 21:42375788-42375788
23 TMPRSS3 NM_001256317.3(TMPRSS3):c.325C>T (p.Arg109Trp)SNV Conflicting interpretations of pathogenicity 46114 rs201632198 21:43808633-43808633 21:42388524-42388524
24 TMPRSS3 NM_001256317.3(TMPRSS3):c.975G>T (p.Leu325=)SNV Conflicting interpretations of pathogenicity 46134 rs397517379 21:43800299-43800299 21:42380190-42380190
25 TMPRSS3 NM_001256317.3(TMPRSS3):c.1332C>T (p.His444=)SNV Conflicting interpretations of pathogenicity 178547 rs186972955 21:43795837-43795837 21:42375728-42375728
26 TMPRSS3 NM_001256317.3(TMPRSS3):c.789C>T (p.Tyr263=)SNV Conflicting interpretations of pathogenicity 178683 rs147181936 21:43802337-43802337 21:42382228-42382228
27 TMPRSS3 NM_001256317.3(TMPRSS3):c.497G>T (p.Arg166Leu)SNV Conflicting interpretations of pathogenicity 177981 rs150397427 21:43805593-43805593 21:42385484-42385484
28 TMPRSS3 NM_001256317.3(TMPRSS3):c.1306G>A (p.Val436Ile)SNV Conflicting interpretations of pathogenicity 46103 rs114904237 21:43795863-43795863 21:42375754-42375754
29 TMPRSS3 NM_001256317.3(TMPRSS3):c.1340T>C (p.Met447Thr)SNV Conflicting interpretations of pathogenicity 46104 rs201018751 21:43795829-43795829 21:42375720-42375720
30 TMPRSS3 NM_024022.3(TMPRSS3):c.1306C>T (p.Arg436Cys)SNV Conflicting interpretations of pathogenicity 666988 21:43795866-43795866 21:42375757-42375757
31 TMPRSS3 NM_024022.3(TMPRSS3):c.1194+10C>TSNV Conflicting interpretations of pathogenicity 736897 21:43796640-43796640 21:42376531-42376531
32 TMPRSS3 NM_024022.3(TMPRSS3):c.1269C>T (p.Ile423=)SNV Uncertain significance 595601 rs372469227 21:43795903-43795903 21:42375794-42375794
33 TMPRSS3 NM_001256317.3(TMPRSS3):c.280G>A (p.Gly94Arg)SNV Uncertain significance 440339 rs143762350 21:43809080-43809080 21:42388971-42388971
34 TMPRSS3 NM_001256317.3(TMPRSS3):c.*53G>ASNV Uncertain significance 897375 21:43792818-43792818 21:42372709-42372709
35 TMPRSS3 NM_001256317.3(TMPRSS3):c.1077G>A (p.Ala359=)SNV Uncertain significance 898535 21:43796764-43796764 21:42376655-42376655
36 TMPRSS3 NM_001256317.3(TMPRSS3):c.1019C>T (p.Thr340Met)SNV Uncertain significance 895546 21:43800255-43800255 21:42380146-42380146
37 TMPRSS3 NM_001256317.3(TMPRSS3):c.1004G>C (p.Gly335Ala)SNV Uncertain significance 895547 21:43800270-43800270 21:42380161-42380161
38 TMPRSS3 NM_001256317.3(TMPRSS3):c.856T>A (p.Leu286Met)SNV Uncertain significance 895548 21:43802270-43802270 21:42382161-42382161
39 TMPRSS3 NM_001256317.3(TMPRSS3):c.450T>C (p.Tyr150=)SNV Uncertain significance 896949 21:43805640-43805640 21:42385531-42385531
40 TMPRSS3 NM_001256317.3(TMPRSS3):c.411C>T (p.Tyr137=)SNV Uncertain significance 897438 21:43808547-43808547 21:42388438-42388438
41 TMPRSS3 NM_001256317.3(TMPRSS3):c.372G>A (p.Ser124=)SNV Uncertain significance 897439 21:43808586-43808586 21:42388477-42388477
42 TMPRSS3 NM_001256317.3(TMPRSS3):c.213C>T (p.Phe71=)SNV Uncertain significance 897440 21:43809147-43809147 21:42389038-42389038
43 TMPRSS3 NM_001256317.3(TMPRSS3):c.161T>C (p.Ile54Thr)SNV Uncertain significance 898607 21:43810080-43810080 21:42389971-42389971
44 TMPRSS3 NM_001256317.3(TMPRSS3):c.-78T>ASNV Uncertain significance 895619 21:43816077-43816077 21:42395968-42395968
45 TMPRSS3 NM_001256317.3(TMPRSS3):c.1344+9G>ASNV Uncertain significance 897376 21:43795816-43795816 21:42375707-42375707
46 TMPRSS3 NM_001256317.3(TMPRSS3):c.1344+8C>TSNV Uncertain significance 897377 21:43795817-43795817 21:42375708-42375708
47 TMPRSS3 NM_001256317.3(TMPRSS3):c.1048+5G>ASNV Uncertain significance 898536 21:43800221-43800221 21:42380112-42380112
48 TMPRSS3 NM_001256317.3(TMPRSS3):c.573-8C>TSNV Uncertain significance 896948 21:43804130-43804130 21:42384021-42384021
49 TMPRSS3 NM_001256317.3(TMPRSS3):c.1148T>A (p.Met383Lys)SNV Uncertain significance 873474 21:43796693-43796693 21:42376584-42376584
50 TMPRSS3 NM_001256317.3(TMPRSS3):c.*805T>CSNV Uncertain significance 897297 21:43792066-43792066 21:42371957-42371957

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

Expression for Deafness, Autosomal Recessive 8

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

Pathways for Deafness, Autosomal Recessive 8

GO Terms for Deafness, Autosomal Recessive 8

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 membrane GO:0016021 9.61 TMPRSS4 TMPRSS3 TMC1 SLC37A3 SLC37A1 PJVK
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 carbohydrate transport GO:0008643 9.26 SLC37A3 SLC37A1
2 sensory perception of sound GO:0007605 9.23 TSPEAR TMPRSS3 TMC1 PJVK OTOF MYO15A
3 phosphate ion transmembrane transport GO:0035435 9.16 SLC37A3 SLC37A1
4 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 for Deafness, Autosomal Recessive 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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