DFNB7
MCID: DFN127
MIFTS: 32

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 57 29 13 6 72
Dfnb7 57 12 74 55
Dfnb11 57 12 74
Autosomal Recessive Nonsyndromic Deafness 7 12 15
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 7 74
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 7 74
Deafness Neurosensory Autosomal Recessive 11 74
Deafness Neurosensory Autosomal Recessive 7 74
Deafness, Autosomal Recessive 11; Dfnb11 57
Deafness, Autosomal Recessive, Type 7 40
Deafness, Autosomal Recessive 11 57
Deafness, Autosomal Recessive, 7 74
Autosomal Recessive Deafness 7 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive.


HPO:

32
deafness, autosomal recessive 7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110520
MeSH 44 D006319
ICD10 33 H90.3
MedGen 42 C1832978
UMLS 72 C1832978

Summaries for Deafness, Autosomal Recessive 7

UniProtKB/Swiss-Prot : 74 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 nonsyndromic deafness and autosomal recessive nonsyndromic deafness. 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.

More information from OMIM: 600974 PS220290

Related Diseases for Deafness, Autosomal Recessive 7

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 Familial 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 nonsyndromic deafness 29.4 TMC1 MT-RNR1 GJB2
2 autosomal recessive nonsyndromic deafness 10.1 TMC1 GJB2
3 branchiootic syndrome 1 10.0 TMC1 GJB2
4 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.9 TMC1 GJB2
5 deafness, autosomal recessive 63 9.9 TPCN2 STT3A
6 non-syndromic genetic deafness 9.8 TMC1 GJB2
7 congenital cytomegalovirus 9.7 MT-RNR1 GJB2
8 sensorineural hearing loss 9.6 TMC1 GJB2
9 inner ear disease 9.6 MT-RNR1 GJB2
10 hodgkin's lymphoma, nodular sclerosis 9.4 TMC1 MT-RNR1 GJB2
11 deafness, autosomal recessive 30 9.4 TMC1 MT-RNR1 GJB2
12 auditory system disease 9.4 TMC1 MT-RNR1 GJB2
13 deafness, autosomal dominant 36 8.9 TMC1 STT3A MT-RNR1 GJB2

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:

32
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407

Symptoms via clinical synopsis from OMIM:

57
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 29 TMC1

Anatomical Context for Deafness, Autosomal Recessive 7

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

41
Brain

Publications for Deafness, Autosomal Recessive 7

Articles related to Deafness, Autosomal Recessive 7:

(show all 36)
# Title Authors PMID Year
1
Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan. 9 38 8 71
17877751 2007
2
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. 9 38 8 71
11850618 2002
3
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11. 9 38 8
18616530 2008
4
An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds. 38 8
8755925 1996
5
Hereditary Hearing Loss and Deafness Overview 71
20301607 1999
6
Nonsyndromic hearing impairment: unparalleled heterogeneity. 8
9106521 1997
7
A human recessive neurosensory nonsyndromic hearing impairment locus is potential homologue of murine deafness (dn) locus. 8
8634715 1995
8
Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations. 9 38
19187973 2009
9
Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss. 9 38
16287143 2005
10
Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree. 9 38
15605408 2005
11
Tmc2 expression partially restores auditory function in a mouse model of DFNB7/B11 deafness caused by loss of Tmc1 function. 38
30108230 2018
12
Identification of four TMC1 variations in different Chinese families with hereditary hearing loss. 38
29654653 2018
13
Identification of a novel homozygous mutation in transmembrane channel like 1 (TMC1) gene, one of the second-tier hearing loss genes after GJB2 in India. 38
28862181 2017
14
Recessive mutations of TMC1 associated with moderate to severe hearing loss. 38
26879195 2016
15
Mutation Screening of Exons 7 and 13 of the TMC1 Gene in Autosomal Recessive Non-syndromic Hearing Loss (ARNSHL) in Iran. 38
27247785 2016
16
[Advances in hereditary hearing loss caused by TMC1 mutations]. 38
27033582 2016
17
Targeted gene capture and massively parallel sequencing identify TMC1 as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss. 38
26079994 2015
18
A TMC1 (transmembrane channel-like 1) mutation (p.S320R) in a Polish family with hearing impairment. 38
25560804 2015
19
Tmc gene therapy restores auditory function in deaf mice. 38
26157030 2015
20
Allelic heterogeneity among Iranian DFNB7/11 families: report of a new Iranian deaf family with TMC1 mutation identified by next-generation sequencing. 38
25423259 2015
21
Mutations of TMC1 cause deafness by disrupting mechanoelectrical transduction. 38
24933710 2014
22
A novel DFNA36 mutation in TMC1 orthologous to the Beethoven (Bth) mouse associated with autosomal dominant hearing loss in a Chinese family. 38
24827932 2014
23
A transversion mutation in non-coding exon 3 of the TMC1 gene in two ethnically related Iranian deaf families from different geographical regions; evidence for founder effect. 38
23523375 2013
24
The common TMC1 mutation c.100C>T (p.Arg34X) is not a significant cause of deafness in British Asians. 38
22288896 2012
25
Identification of three novel hearing loss mouse strains with mutations in the Tmc1 gene. 38
22330676 2012
26
Genetic Linkage Analysis of 15 DFNB Loci in a Group of Iranian Families with Autosomal Recessive Hearing Loss. 38
23113071 2011
27
Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1. 38
21252500 2011
28
Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population. 38
21250555 2010
29
TMC1 but not TMC2 is responsible for autosomal recessive nonsyndromic hearing impairment in Tunisian families. 38
18259073 2008
30
Tmc1 is necessary for normal functional maturation and survival of inner and outer hair cells in the mouse cochlea. 38
16627570 2006
31
Mouse tales from Kresge: the deafness mouse. 38
14552423 2003
32
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36. 38
11850623 2002
33
Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2. 38
10767548 2000
34
The mouse deafness locus (dn) is associated with an inversion on chromosome 19. 38
9748617 1998
35
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. 38
9758550 1998
36
Construction of P1-derived artificial chromosome and yeast artificial chromosome contigs encompassing the DFNB7 and DFNB11 region of chromosome 9q13-21. 38
9314493 1997

Variations for Deafness, Autosomal Recessive 7

ClinVar genetic disease variations for Deafness, Autosomal Recessive 7:

6 (show all 21)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TMC1 NM_138691.2(TMC1): c.100C> T (p.Arg34Ter) single nucleotide variant Pathogenic rs121908073 9:75309494-75309494 9:72694578-72694578
2 TMC1 NM_138691.2(TMC1): c.1960A> G (p.Met654Val) single nucleotide variant Pathogenic rs121908074 9:75435954-75435954 9:72821038-72821038
3 TMC1 TMC1, IVS5DS, G-T, +1 single nucleotide variant Pathogenic
4 TMC1 NM_138691.2(TMC1): c.1543T> C (p.Cys515Arg) single nucleotide variant Pathogenic rs121908076 9:75407245-75407245 9:72792329-72792329
5 TMC1 NM_138691.2(TMC1): c.1939T> C (p.Ser647Pro) single nucleotide variant Pathogenic rs138527651 9:75435933-75435933 9:72821017-72821017
6 TMC1 NM_138691.2(TMC1): c.15dup (p.Val6fs) duplication Pathogenic rs878853229 9:75263579-75263579 9:72648663-72648663
7 TMC1 NM_138691.2(TMC1): c.229del (p.Arg77fs) deletion Pathogenic rs878853230 9:75309623-75309623 9:72694707-72694707
8 TMC1 NM_138691.2(TMC1): c.1143C> G (p.Tyr381Ter) single nucleotide variant Pathogenic 9:75404152-75404152 9:72789236-72789236
9 TMC1 NM_138691.2(TMC1): c.1220dup (p.Asn407fs) duplication Pathogenic 9:75404227-75404228 9:72789311-72789312
10 TMC1 NM_138691.2(TMC1): c.1259G> A (p.Cys420Tyr) single nucleotide variant Pathogenic 9:75406836-75406836 9:72791920-72791920
11 TMC1 NM_138691.2(TMC1): c.885-2A> C single nucleotide variant Pathogenic 9:75403253-75403253 9:72788337-72788337
12 TMC1 NM_138691.2(TMC1): c.2218G> T (p.Glu740Ter) single nucleotide variant Pathogenic 9:75445556-75445556 9:72830640-72830640
13 TMC1 NM_138691.2(TMC1): c.1532C> T (p.Pro511Leu) single nucleotide variant Pathogenic rs727503483 9:75407234-75407234 9:72792318-72792318
14 TMC1 NM_138691.2(TMC1): c.[236+1G> A] single nucleotide variant Pathogenic/Likely pathogenic rs775428246 9:75309631-75309631 9:72694715-72694715
15 TMC1 NM_138691.2(TMC1): c.1763+3A> G single nucleotide variant Conflicting interpretations of pathogenicity rs370898981 9:75431129-75431129 9:72816213-72816213
16 TMC1 NM_138691.2(TMC1): c.1114G> A (p.Val372Met) single nucleotide variant Conflicting interpretations of pathogenicity rs367924428 9:75404123-75404123 9:72789207-72789207
17 TMC1 NM_138691.2(TMC1): c.1333C> T (p.Arg445Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs372710475 9:75406910-75406910 9:72791994-72791994
18 TMC1 NM_138691.2(TMC1): c.1567-14T> G single nucleotide variant Uncertain significance rs727503485 9:75420284-75420284 9:72805368-72805368
19 TMC1 NM_138691.2(TMC1): c.624C> A (p.Ser208Arg) single nucleotide variant Uncertain significance rs781747541 9:75366854-75366854 9:72751938-72751938
20 TMC1 NM_138691.2(TMC1): c.938T> C (p.Phe313Ser) single nucleotide variant Uncertain significance rs1060499599 9:75403308-75403308 9:72788392-72788392
21 TMC1 NM_138691.2(TMC1): c.596A> T (p.Asn199Ile) single nucleotide variant Uncertain significance rs756960425 9:75366826-75366826 9:72751910-72751910

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

74
# Symbol AA change Variation ID SNP ID
1 TMC1 p.Met654Val VAR_014126 rs121908074

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 TMC1 GJB2
2 calcium ion transmembrane transport GO:0070588 8.62 TPCN2 TMC1

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 TPCN2 TMC1

Sources for Deafness, Autosomal Recessive 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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