DFNB8
MCID: DFN352
MIFTS: 34

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 58 30 6
Neurosensory Nonsyndromic Recessive Deafness 8 58 12 76
Dfnb10 58 12 76
Dfnb8 58 12 76
Deafness, Childhood-Onset Neurosensory, Autosomal Recessive 8 58 74
Autosomal Recessive Nonsyndromic Deafness 8 12 15
Deafness, Autosomal Recessive 8/10 58 13
Deafness, Autosomal Recessive 10 58 74
Nsrd8 58 76
Deafness, Childhood-Onset Neurosensory, Autosomal Recessive 8; Dfnb8 58
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 8 76
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 8 76
Childhood-Onset Neurosensory Autosomal Recessive Deafness 8 12
Childhood-Onset Neurosensory Deafness Autosomal Recessive 8 76
Neurosensory Nonsyndromic Recessive Deafness 8; Nsrd8 58
Deafness Neurosensory Autosomal Recessive 8 76
Deafness, Autosomal Recessive 10; Dfnb10 58
Deafness, Autosomal Recessive, Type 8/10 41
Deafness Autosomal Recessive 8/10 76
Deafness, Autosomal Recessive, 8 76
Autosomal Recessive Deafness 10 12
Deafness Autosomal Recessive 10 76
Autosomal Recessive Deafness 8 12
Nrsd8 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
deafness, autosomal recessive 8:
Onset and clinical course childhood onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110527
OMIM 58 601072
MeSH 45 D006319
ICD10 34 H90.3
MedGen 43 C1832827
SNOMED-CT via HPO 70 258211005 60700002

Summaries for Deafness, Autosomal Recessive 8

UniProtKB/Swiss-Prot : 76 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 autosomal recessive nonsyndromic deafness and nonsyndromic deafness. 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 Decreased IL-8 secretion

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

Description from OMIM: 601072

Related Diseases for Deafness, Autosomal Recessive 8

Diseases in the Familial 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 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
Autosomal Recessive Nonsyndromic Deafness 86 Otof-Related Deafness

Diseases related to Deafness, Autosomal Recessive 8 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive nonsyndromic deafness 29.8 TFF1 TMPRSS3
2 nonsyndromic deafness 29.1 STRC TFF1 TMPRSS3 TMPRSS4
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
4 glycerol kinase deficiency 10.1
5 deafness, autosomal recessive 24 10.1 TMPRSS3 TMPRSS4
6 deafness, autosomal recessive 85 10.1 TMPRSS3 TMPRSS4
7 deafness, autosomal recessive 83 10.0 TMPRSS3 TMPRSS4
8 deafness, autosomal recessive 25 10.0 TMPRSS3 TMPRSS4
9 deafness, autosomal dominant 2a 10.0 TMPRSS3 TMPRSS4
10 deafness, autosomal recessive 98 9.8 TMPRSS3 TMPRSS4 TSPEAR
11 auditory system disease 9.8 STRC TMPRSS3
12 deafness, autosomal recessive 16 9.8 STRC TMPRSS3 TMPRSS4
13 deafness, autosomal dominant 6 9.7 STRC TMPRSS3 TMPRSS4
14 deafness, autosomal dominant 13 9.7 STRC TMPRSS3 TMPRSS4
15 non-syndromic genetic deafness 9.7 STRC TMPRSS3
16 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.7 STRC TMPRSS3 TSPEAR

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:

33
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 33 HP:0000407

Symptoms via clinical synopsis from OMIM:

58
Misc:
childhood onset

Ears:
neurosensory deafness

Clinical features from OMIM:

601072

GenomeRNAi Phenotypes related to Deafness, Autosomal Recessive 8 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased IL-8 secretion GR00386-A-2 8.92 GK STRC TFF1 TSPEAR

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 30 TMPRSS3

Anatomical Context for Deafness, Autosomal Recessive 8

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

42
Brain

Publications for Deafness, Autosomal Recessive 8

Articles related to Deafness, Autosomal Recessive 8:

(show all 12)
# Title Authors Year
1
Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing. ( 21454591 )
2011
2
Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations. ( 21786053 )
2011
3
Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings. ( 17551081 )
2007
4
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein. ( 16021470 )
2005
5
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. ( 11907649 )
2002
6
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro. ( 12393794 )
2002
7
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness. ( 11424922 )
2001
8
Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. ( 11137999 )
2001
9
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness. ( 11462234 )
2001
10
Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3. ( 10868228 )
2000
11
Immunochemical characterization of a novel mitochondrially located protein encoded by a nuclear gene within the DFNB8/10 critical region on 21q22.3. ( 9325172 )
1997
12
Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan. ( 8789456 )
1996

Variations for Deafness, Autosomal Recessive 8

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

76
# 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

ClinVar genetic disease variations for Deafness, Autosomal Recessive 8:

6 (show all 29)
# Gene Variation Type Significance SNP ID Assembly Location
1 TMPRSS3 TMPRSS3, IVS4AS, G-A, -6 single nucleotide variant Pathogenic
2 TMPRSS3 TMPRSS3, 8-BP DEL, SATELLITE REPEAT INS indel Pathogenic
3 TMPRSS3 NM_024022.2(TMPRSS3): c.753G> C (p.Trp251Cys) single nucleotide variant Pathogenic rs137852999 GRCh37 Chromosome 21, 43803171: 43803171
4 TMPRSS3 NM_024022.2(TMPRSS3): c.753G> C (p.Trp251Cys) single nucleotide variant Pathogenic rs137852999 GRCh38 Chromosome 21, 42383062: 42383062
5 TMPRSS3 NM_024022.2(TMPRSS3): c.1211C> T (p.Pro404Leu) single nucleotide variant Pathogenic rs28939084 GRCh37 Chromosome 21, 43795961: 43795961
6 TMPRSS3 NM_024022.2(TMPRSS3): c.1211C> T (p.Pro404Leu) single nucleotide variant Pathogenic rs28939084 GRCh38 Chromosome 21, 42375852: 42375852
7 TMPRSS3 NM_024022.2(TMPRSS3): c.647G> T (p.Arg216Leu) single nucleotide variant Pathogenic rs137853000 GRCh37 Chromosome 21, 43803277: 43803277
8 TMPRSS3 NM_024022.2(TMPRSS3): c.647G> T (p.Arg216Leu) single nucleotide variant Pathogenic rs137853000 GRCh38 Chromosome 21, 42383168: 42383168
9 TMPRSS3 TMPRSS3, 1-BP DEL, 207C deletion Pathogenic
10 TMPRSS3 NM_024022.2(TMPRSS3): c.308A> G (p.Asp103Gly) single nucleotide variant Pathogenic rs387906915 GRCh37 Chromosome 21, 43809052: 43809052
11 TMPRSS3 NM_024022.2(TMPRSS3): c.308A> G (p.Asp103Gly) single nucleotide variant Pathogenic rs387906915 GRCh38 Chromosome 21, 42388943: 42388943
12 TMPRSS3 NM_024022.2(TMPRSS3): c.1042G> A (p.Asp348Asn) single nucleotide variant Uncertain significance rs111033261 GRCh37 Chromosome 21, 43800232: 43800232
13 TMPRSS3 NM_024022.2(TMPRSS3): c.1042G> A (p.Asp348Asn) single nucleotide variant Uncertain significance rs111033261 GRCh38 Chromosome 21, 42380123: 42380123
14 TMPRSS3 NM_024022.2(TMPRSS3): c.1276G> A (p.Ala426Thr) single nucleotide variant Likely pathogenic rs56264519 GRCh37 Chromosome 21, 43795896: 43795896
15 TMPRSS3 NM_024022.2(TMPRSS3): c.1276G> A (p.Ala426Thr) single nucleotide variant Likely pathogenic rs56264519 GRCh38 Chromosome 21, 42375787: 42375787
16 TMPRSS3 NM_024022.2(TMPRSS3): c.413C> A (p.Ala138Glu) single nucleotide variant Pathogenic/Likely pathogenic rs147231991 GRCh37 Chromosome 21, 43808545: 43808545
17 TMPRSS3 NM_024022.2(TMPRSS3): c.413C> A (p.Ala138Glu) single nucleotide variant Pathogenic/Likely pathogenic rs147231991 GRCh38 Chromosome 21, 42388436: 42388436
18 TMPRSS3 NM_024022.2(TMPRSS3): c.1152G> T (p.Met384Ile) single nucleotide variant Uncertain significance rs727503492 GRCh37 Chromosome 21, 43796692: 43796692
19 TMPRSS3 NM_024022.2(TMPRSS3): c.1152G> T (p.Met384Ile) single nucleotide variant Uncertain significance rs727503492 GRCh38 Chromosome 21, 42376583: 42376583
20 TMPRSS3 NM_024022.2(TMPRSS3): c.727G> A (p.Gly243Arg) single nucleotide variant Likely pathogenic rs372526764 GRCh38 Chromosome 21, 42383088: 42383088
21 TMPRSS3 NM_024022.2(TMPRSS3): c.727G> A (p.Gly243Arg) single nucleotide variant Likely pathogenic rs372526764 GRCh37 Chromosome 21, 43803197: 43803197
22 TMPRSS3 NM_001256317.1(TMPRSS3): c.212T> C (p.Phe71Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs185332310 GRCh37 Chromosome 21, 43809148: 43809148
23 TMPRSS3 NM_001256317.1(TMPRSS3): c.212T> C (p.Phe71Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs185332310 GRCh38 Chromosome 21, 42389039: 42389039
24 TMPRSS3 NM_032405.1(TMPRSS3): c.582T> A (p.Cys194Ter) single nucleotide variant Pathogenic rs1060499811 GRCh37 Chromosome 21, 43804113: 43804113
25 TMPRSS3 NM_032405.1(TMPRSS3): c.582T> A (p.Cys194Ter) single nucleotide variant Pathogenic rs1060499811 GRCh38 Chromosome 21, 42384004: 42384004
26 TMPRSS3 NM_024022.2(TMPRSS3): c.783-1G> T single nucleotide variant Pathogenic GRCh37 Chromosome 21, 43802344: 43802344
27 TMPRSS3 NM_024022.2(TMPRSS3): c.783-1G> T single nucleotide variant Pathogenic GRCh38 Chromosome 21, 42382235: 42382235
28 TMPRSS3 NM_024022.2(TMPRSS3): c.1048+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 21, 42380116: 42380116
29 TMPRSS3 NM_024022.2(TMPRSS3): c.1048+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 21, 43800225: 43800225

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 stereocilium GO:0032420 8.62 STRC TSPEAR

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

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.16 GK TFF1
2 receptor-mediated endocytosis GO:0006898 8.96 TMPRSS3 TMPRSS4
3 sensory perception of sound GO:0007605 8.8 STRC TMPRSS3 TSPEAR

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

# Name GO ID Score Top Affiliating Genes
1 serine-type peptidase activity GO:0008236 8.96 TMPRSS3 TMPRSS4
2 scavenger receptor activity GO:0005044 8.62 TMPRSS3 TMPRSS4

Sources for Deafness, Autosomal Recessive 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....