MCID: ATS338
MIFTS: 22

Autosomal Recessive Nonsyndromic Deafness 8

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

Aliases & Classifications for Autosomal Recessive Nonsyndromic Deafness 8

MalaCards integrated aliases for Autosomal Recessive Nonsyndromic Deafness 8:

Name: Autosomal Recessive Nonsyndromic Deafness 8 12 14
Deafness, Childhood-Onset Neurosensory, Autosomal Recessive 8 69
Childhood-Onset Neurosensory Autosomal Recessive Deafness 8 12
Neurosensory Nonsyndromic Recessive Deafness 8 12
Deafness, Autosomal Recessive 10 69
Autosomal Recessive Deafness 10 12
Autosomal Recessive Deafness 8 12
Dfnb10 12
Dfnb8 12
Nrsd8 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110527
ICD10 33 H90.3

Summaries for Autosomal Recessive Nonsyndromic Deafness 8

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

MalaCards based summary : Autosomal Recessive Nonsyndromic Deafness 8, also known as deafness, childhood-onset neurosensory, autosomal recessive 8, is related to autosomal recessive nonsyndromic deafness and deafness, autosomal recessive 8/10. An important gene associated with Autosomal Recessive Nonsyndromic Deafness 8 is TMPRSS3 (Transmembrane Protease, Serine 3).

Related Diseases for Autosomal Recessive Nonsyndromic Deafness 8

Diseases in the Familial Deafness family:

Deafness, Autosomal Recessive 96 Deafness, Autosomal Recessive 36
Deafness, Autosomal Dominant 2b Deafness, Autosomal Recessive
Deafness, Autosomal Dominant 2a Deafness, Autosomal Recessive 108
Deafness, Autosomal Recessive 32 Deafness, Autosomal Recessive 105
Deafness, Autosomal Dominant 7 Deafness, Autosomal Dominant 49
Deafness, Autosomal Recessive 45 Deafness, Autosomal Recessive 9
Deafness, Autosomal Dominant 58 Deafness, Autosomal Recessive 70
Deafness, Autosomal Dominant 43 Deafness, Autosomal Recessive 88
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 27
Deafness, Autosomal Recessive 59 Deafness, Autosomal Recessive 6
Deafness, Autosomal Dominant 70 Deafness, Autosomal Recessive 42
Deafness, Autosomal Dominant 18 Deafness, Autosomal Dominant 44
Deafness, Autosomal Dominant 6/14/38 Deafness, Autosomal Recessive 25
Deafness, Autosomal Dominant 27 Deafness, Autosomal Recessive 55
Deafness, Autosomal Recessive 26 Deafness, Autosomal Dominant 24
Deafness, Autosomal Recessive 49 Deafness, Autosomal Dominant 1
Deafness, Autosomal Dominant 54 Deafness, Autosomal Dominant 15
Deafness, Autosomal Dominant 52 Deafness, Autosomal Recessive 101
Deafness, Autosomal Recessive 91 Deafness, Autosomal Dominant 21
Deafness, Autosomal Recessive 104 Deafness, Autosomal Recessive 66
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 53
Deafness, Autosomal Dominant 31 Deafness, Autosomal Recessive 67
Deafness, Autosomal Dominant 72 Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 22 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 66 Deafness, Autosomal Dominant 10
Deafness, Autosomal Recessive 38 Deafness, Autosomal Dominant 5
Deafness, Autosomal Recessive 44 Deafness, Autosomal Recessive 39
Deafness, Autosomal Recessive 61 Deafness, Autosomal Recessive 14
Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 97
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 13
Deafness, Autosomal Recessive 71 Deafness, Autosomal Dominant 28
Deafness, Autosomal Recessive 83 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 7 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 51 Deafness, Autosomal Recessive 31
Deafness, Autosomal Dominant 56 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 33 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 12 Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 18a Deafness Autosomal Recessive 106
Deafness, Autosomal Recessive 18b Deafness, Autosomal Dominant 59
Deafness, Autosomal Recessive 51 Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 63 Deafness, Autosomal Recessive 2
Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 8/12
Deafness, Autosomal Recessive 21 Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 20 Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 102 Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 74 Deafness, Autosomal Recessive 84a
Deafness, Autosomal Dominant 73 Deafness, Autosomal Recessive 84b
Deafness, Autosomal Dominant 25 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 41 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Dominant 3a Deafness, Autosomal Dominant 3b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Dominant 33
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 5
Deafness, Autosomal Dominant 9 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 35 Deafness, Autosomal Recessive 16
Deafness, Autosomal Dominant 71 Deafness, Autosomal Recessive 48
Deafness, Autosomal Dominant 68 Deafness, Autosomal Dominant 30
Deafness , Autosomal Recessive 86 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 40 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 3 Deafness, Autosomal Recessive 107
Deafness, Autosomal Dominant 20/26 Deafness, Autosomal Recessive 46
Deafness, Autosomal Recessive 77 Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 76
Deafness, Autosomal Dominant 4b Deafness, Autosomal Dominant 4a
Deafness, Autosomal Dominant 67 Deafness, Autosomal Recessive 65
Deafness, Autosomal Recessive 29 Deafness, Autosomal Recessive 8/10
Deafness, Autosomal Recessive 98 Deafness, Autosomal Dominant 17
Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 28
Nonsyndromic Deafness Autosomal Dominant Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 47 Autosomal Recessive Nonsyndromic Deafness 8
Autosomal Dominant Nonsyndromic Deafness 12 Autosomal Dominant Nonsyndromic Deafness 20
Autosomal Dominant Nonsyndromic Deafness 6 Autosomal Dominant Nonsyndromic Deafness 69
Otof-Related Deafness

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

(show all 18)
id Related Disease Score Top Affiliating Genes
1 autosomal recessive nonsyndromic deafness 28.3 STRC TFF1 TMPRSS3 TMPRSS4
2 deafness, autosomal recessive 8/10 10.8
3 atrial fibrillation, familial, 14 10.2 TMPRSS3 TMPRSS4
4 bifid nose with or without anorectal and renal anomalies 10.1 TMPRSS3 TMPRSS4
5 ectodermal dysplasia 6, hair/nail type 10.1 TMPRSS3 TMPRSS4
6 birk-landau-perez syndrome 10.0 TMPRSS3 TMPRSS4
7 nonsyndromic hydrocephalus, ccdc88c-related 10.0 STRC TMPRSS3
8 deafness, autosomal dominant 2a 9.9 TMPRSS3 TMPRSS4
9 narcissistic personality disorder 9.8 STRC TMPRSS3
10 glycerol kinase deficiency 9.8
11 nonsyndromic deafness 9.8
12 cat eye syndrome 9.7 TMPRSS3 TMPRSS4 TSPEAR
13 microcephaly and chorioretinopathy, autosomal recessive, 3 9.6 STRC TMPRSS3 TMPRSS4
14 orofacial cleft 9.6 TFF1 TMPRSS3
15 congenital muscular dystrophy due to lmna mutation 9.6 STRC TMPRSS3 TMPRSS4
16 deafness, autosomal recessive 53 9.6 STRC TMPRSS3 TMPRSS4
17 discrete papular lichen myxedematosus 9.5 STRC TMPRSS3 TSPEAR
18 autosomal dominant nonsyndromic deafness 20 7.8 C21orf2 STRC TFF1 TMPRSS3 TMPRSS4 TSPEAR

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



Diseases related to Autosomal Recessive Nonsyndromic Deafness 8

Symptoms & Phenotypes for Autosomal Recessive Nonsyndromic Deafness 8

Drugs & Therapeutics for Autosomal Recessive Nonsyndromic Deafness 8

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

Genetic Tests for Autosomal Recessive Nonsyndromic Deafness 8

Anatomical Context for Autosomal Recessive Nonsyndromic Deafness 8

Publications for Autosomal Recessive Nonsyndromic Deafness 8

Variations for Autosomal Recessive Nonsyndromic Deafness 8

ClinVar genetic disease variations for Autosomal Recessive Nonsyndromic Deafness 8:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TMPRSS3 TMPRSS3, 8-BP DEL, SATELLITE REPEAT INS indel Pathogenic
2 TMPRSS3 TMPRSS3, IVS4AS, G-A, -6 single nucleotide variant 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.1211C> T (p.Pro404Leu) single nucleotide variant Pathogenic rs28939084 GRCh37 Chromosome 21, 43795961: 43795961
5 TMPRSS3 NM_024022.2(TMPRSS3): c.647G> T (p.Arg216Leu) single nucleotide variant Pathogenic rs137853000 GRCh37 Chromosome 21, 43803277: 43803277
6 TMPRSS3 TMPRSS3, 1-BP DEL, 207C deletion Pathogenic
7 TMPRSS3 NM_024022.2(TMPRSS3): c.308A> G (p.Asp103Gly) single nucleotide variant Pathogenic rs387906915 GRCh37 Chromosome 21, 43809052: 43809052
8 TMPRSS3 NM_024022.2(TMPRSS3): c.325C> T (p.Arg109Trp) single nucleotide variant Pathogenic/Likely pathogenic rs201632198 GRCh37 Chromosome 21, 43808633: 43808633
9 TMPRSS3 NM_024022.2(TMPRSS3): c.413C> A (p.Ala138Glu) single nucleotide variant Pathogenic/Likely pathogenic rs147231991 GRCh37 Chromosome 21, 43808545: 43808545
10 TMPRSS3 NM_032405.1(TMPRSS3): c.582T> A (p.Cys194Ter) single nucleotide variant Pathogenic rs1060499811 GRCh37 Chromosome 21, 43804113: 43804113

Expression for Autosomal Recessive Nonsyndromic Deafness 8

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

Pathways for Autosomal Recessive Nonsyndromic Deafness 8

GO Terms for Autosomal Recessive Nonsyndromic Deafness 8

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

id Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.13 C21orf2 STRC TSPEAR
2 stereocilium GO:0032420 8.62 STRC TSPEAR

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

id Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 8.96 TMPRSS3 TMPRSS4
2 sensory perception of sound GO:0007605 8.8 STRC TMPRSS3 TSPEAR

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

id 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 Autosomal Recessive Nonsyndromic Deafness 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....