DFNB7
MCID: DFN127
MIFTS: 30

Deafness, Autosomal Recessive 7 (DFNB7)

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

Aliases & Classifications for Deafness, Autosomal Recessive 7

MalaCards integrated aliases for Deafness, Autosomal Recessive 7:

Name: Deafness, Autosomal Recessive 7 58 30 13 6 74
Dfnb7 58 12 76 56
Dfnb11 58 12 76
Autosomal Recessive Nonsyndromic Deafness 7 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 7 76
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 7 76
Deafness Neurosensory Autosomal Recessive 11 76
Deafness Neurosensory Autosomal Recessive 7 76
Deafness, Autosomal Recessive 11; Dfnb11 58
Deafness, Autosomal Recessive, Type 7 41
Deafness, Autosomal Recessive 11 58
Deafness, Autosomal Recessive, 7 76
Autosomal Recessive Deafness 7 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive.


HPO:

33
deafness, autosomal recessive 7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110520
OMIM 58 600974
MeSH 45 D006319
ICD10 34 H90.3
MedGen 43 C1832978
SNOMED-CT via HPO 70 258211005 60700002
UMLS 74 C1832978

Summaries for Deafness, Autosomal Recessive 7

UniProtKB/Swiss-Prot : 76 Deafness, autosomal recessive, 7: 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 7, also known as dfnb7, is related to autosomal recessive nonsyndromic deafness and branchiootic syndrome 1. An important gene associated with Deafness, Autosomal Recessive 7 is TMC1 (Transmembrane Channel Like 1). Affiliated tissues include brain, and related phenotype is sensorineural hearing impairment.

Disease Ontology : 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the TMC1 gene on chromosome 9q21.

Description from OMIM: 600974

Related Diseases for Deafness, Autosomal Recessive 7

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

(show all 13)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive nonsyndromic deafness 10.0 GJB2 TMC1
2 branchiootic syndrome 1 10.0 GJB2 TMC1
3 autosomal recessive non-syndromic sensorineural deafness type dfnb 10.0 GJB2 TMC1
4 non-syndromic genetic deafness 9.9 GJB2 TMC1
5 congenital cytomegalovirus 9.8 GJB2 MT-RNR1
6 sensorineural hearing loss 9.8 GJB2 TMC1
7 inner ear disease 9.7 GJB2 MT-RNR1
8 deafness, autosomal recessive 63 9.6 SHANK2 STT3A TPCN2
9 hodgkin's lymphoma, nodular sclerosis 9.6 GJB2 MT-RNR1 TMC1
10 deafness, autosomal recessive 30 9.6 GJB2 MT-RNR1 TMC1
11 auditory system disease 9.6 GJB2 MT-RNR1 TMC1
12 nonsyndromic deafness 9.6 GJB2 MT-RNR1 TMC1
13 deafness, autosomal dominant 36 9.3 GJB2 MT-RNR1 STT3A TMC1

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 7:



Diseases related to Deafness, Autosomal Recessive 7

Symptoms & Phenotypes for Deafness, Autosomal Recessive 7

Human phenotypes related to Deafness, Autosomal Recessive 7:

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

Symptoms via clinical synopsis from OMIM:

58
Ears:
neurosensory nonsyndromic hearing impairment.

Clinical features from OMIM:

600974

Drugs & Therapeutics for Deafness, Autosomal Recessive 7

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 7

Genetic Tests for Deafness, Autosomal Recessive 7

Genetic tests related to Deafness, Autosomal Recessive 7:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 7 30 TMC1

Anatomical Context for Deafness, Autosomal Recessive 7

MalaCards organs/tissues related to Deafness, Autosomal Recessive 7:

42
Brain

Publications for Deafness, Autosomal Recessive 7

Articles related to Deafness, Autosomal Recessive 7:

(show all 11)
# Title Authors Year
1
Tmc2 expression partially restores auditory function in a mouse model of DFNB7/B11 deafness caused by loss of Tmc1 function. ( 30108230 )
2018
2
Allelic heterogeneity among Iranian DFNB7/11 families: report of a new Iranian deaf family with TMC1 mutation identified by next-generation sequencing. ( 25423259 )
2015
3
Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1. ( 21252500 )
2011
4
Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population. ( 21250555 )
2010
5
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11. ( 18616530 )
2008
6
Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan. ( 17877751 )
2007
7
Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss. ( 16287143 )
2005
8
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. ( 11850618 )
2002
9
Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2. ( 10767548 )
2000
10
Identification and mutation analysis of a cochlear-expressed, zinc finger protein gene at the DFNB7/11 and dn hearing-loss loci on human chromosome 9q and mouse chromosome 19. ( 9758550 )
1998
11
Construction of P1-derived artificial chromosome and yeast artificial chromosome contigs encompassing the DFNB7 and DFNB11 region of chromosome 9q13-21. ( 9314493 )
1997

Variations for Deafness, Autosomal Recessive 7

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 7:

76
# Symbol AA change Variation ID SNP ID
1 TMC1 p.Met654Val VAR_014126 rs121908074

ClinVar genetic disease variations for Deafness, Autosomal Recessive 7:

6 (show all 35)
# Gene Variation Type Significance SNP ID Assembly Location
1 TMC1 NM_138691.2(TMC1): c.885-2A> C single nucleotide variant Pathogenic GRCh37 Chromosome 9, 75403253: 75403253
2 TMC1 NM_138691.2(TMC1): c.885-2A> C single nucleotide variant Pathogenic GRCh38 Chromosome 9, 72788337: 72788337
3 TMC1 NM_138691.2(TMC1): c.1259G> A (p.Cys420Tyr) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 75406836: 75406836
4 TMC1 NM_138691.2(TMC1): c.1259G> A (p.Cys420Tyr) single nucleotide variant Pathogenic GRCh38 Chromosome 9, 72791920: 72791920
5 TMC1 NM_138691.2(TMC1): c.1218_1219insA (p.Asn407Lysfs) insertion Pathogenic GRCh37 Chromosome 9, 75404227: 75404228
6 TMC1 NM_138691.2(TMC1): c.1218_1219insA (p.Asn407Lysfs) insertion Pathogenic GRCh38 Chromosome 9, 72789311: 72789312
7 TMC1 NM_138691.2(TMC1): c.1143C> G (p.Tyr381Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 75404152: 75404152
8 TMC1 NM_138691.2(TMC1): c.1143C> G (p.Tyr381Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 9, 72789236: 72789236
9 TMC1 NM_138691.2(TMC1): c.236+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs775428246 GRCh37 Chromosome 9, 75309631: 75309631
10 TMC1 NM_138691.2(TMC1): c.236+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs775428246 GRCh38 Chromosome 9, 72694715: 72694715
11 TMC1 NM_138691.2(TMC1): c.938T> C (p.Phe313Ser) single nucleotide variant Uncertain significance rs1060499599 GRCh38 Chromosome 9, 72788392: 72788392
12 TMC1 NM_138691.2(TMC1): c.938T> C (p.Phe313Ser) single nucleotide variant Uncertain significance rs1060499599 GRCh37 Chromosome 9, 75403308: 75403308
13 TMC1 NM_138691.2(TMC1): c.624C> A (p.Ser208Arg) single nucleotide variant Uncertain significance rs781747541 GRCh37 Chromosome 9, 75366854: 75366854
14 TMC1 NM_138691.2(TMC1): c.624C> A (p.Ser208Arg) single nucleotide variant Uncertain significance rs781747541 GRCh38 Chromosome 9, 72751938: 72751938
15 TMC1 NM_138691.2(TMC1): c.1532C> T (p.Pro511Leu) single nucleotide variant Pathogenic rs727503483 GRCh38 Chromosome 9, 72792318: 72792318
16 TMC1 NM_138691.2(TMC1): c.1532C> T (p.Pro511Leu) single nucleotide variant Pathogenic rs727503483 GRCh37 Chromosome 9, 75407234: 75407234
17 TMC1 NM_138691.2(TMC1): c.229delA (p.Arg77Glufs) deletion Pathogenic rs878853230 GRCh37 Chromosome 9, 75309623: 75309623
18 TMC1 NM_138691.2(TMC1): c.229delA (p.Arg77Glufs) deletion Pathogenic rs878853230 GRCh38 Chromosome 9, 72694707: 72694707
19 TMC1 NM_138691.2(TMC1): c.15dupA (p.Val6Serfs) duplication Pathogenic rs878853229 GRCh38 Chromosome 9, 72648663: 72648663
20 TMC1 NM_138691.2(TMC1): c.15dupA (p.Val6Serfs) duplication Pathogenic rs878853229 GRCh37 Chromosome 9, 75263579: 75263579
21 TMC1 NM_138691.2(TMC1): c.1939T> C (p.Ser647Pro) single nucleotide variant Pathogenic rs138527651 GRCh38 Chromosome 9, 72821017: 72821017
22 TMC1 NM_138691.2(TMC1): c.1939T> C (p.Ser647Pro) single nucleotide variant Pathogenic rs138527651 GRCh37 Chromosome 9, 75435933: 75435933
23 TMC1 NM_138691.2(TMC1): c.1543T> C (p.Cys515Arg) single nucleotide variant Pathogenic rs121908076 GRCh38 Chromosome 9, 72792329: 72792329
24 TMC1 NM_138691.2(TMC1): c.1543T> C (p.Cys515Arg) single nucleotide variant Pathogenic rs121908076 GRCh37 Chromosome 9, 75407245: 75407245
25 TMC1 TMC1, IVS5DS, G-T, +1 single nucleotide variant Pathogenic
26 TMC1 NM_138691.2(TMC1): c.1960A> G (p.Met654Val) single nucleotide variant Pathogenic rs121908074 GRCh38 Chromosome 9, 72821038: 72821038
27 TMC1 NM_138691.2(TMC1): c.1960A> G (p.Met654Val) single nucleotide variant Pathogenic rs121908074 GRCh37 Chromosome 9, 75435954: 75435954
28 TMC1 NM_138691.2(TMC1): c.100C> T (p.Arg34Ter) single nucleotide variant Pathogenic rs121908073 GRCh38 Chromosome 9, 72694578: 72694578
29 TMC1 NM_138691.2(TMC1): c.100C> T (p.Arg34Ter) single nucleotide variant Pathogenic rs121908073 GRCh37 Chromosome 9, 75309494: 75309494
30 TMC1 NM_138691.2(TMC1): c.2218G> T (p.Glu740Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 75445556: 75445556
31 TMC1 NM_138691.2(TMC1): c.2218G> T (p.Glu740Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 9, 72830640: 72830640
32 TMC1 NM_138691.2(TMC1): c.1567-14T> G single nucleotide variant Uncertain significance rs727503485 GRCh38 Chromosome 9, 72805368: 72805368
33 TMC1 NM_138691.2(TMC1): c.1567-14T> G single nucleotide variant Uncertain significance rs727503485 GRCh37 Chromosome 9, 75420284: 75420284
34 TMC1 NM_138691.2(TMC1): c.1763+3A> G single nucleotide variant Conflicting interpretations of pathogenicity rs370898981 GRCh38 Chromosome 9, 72816213: 72816213
35 TMC1 NM_138691.2(TMC1): c.1763+3A> G single nucleotide variant Conflicting interpretations of pathogenicity rs370898981 GRCh37 Chromosome 9, 75431129: 75431129

Expression for Deafness, Autosomal Recessive 7

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 7.

Pathways for Deafness, Autosomal Recessive 7

GO Terms for Deafness, Autosomal Recessive 7

Biological processes related to Deafness, Autosomal Recessive 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 8.96 GJB2 TMC1
2 calcium ion transmembrane transport GO:0070588 8.62 TMC1 TPCN2

Molecular functions related to Deafness, Autosomal Recessive 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated calcium channel activity GO:0005245 8.62 TMC1 TPCN2

Sources for Deafness, Autosomal Recessive 7

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
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