MCID: DFN127
MIFTS: 28

Deafness, Autosomal Recessive 7

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

Aliases & Classifications for Deafness, Autosomal Recessive 7

MalaCards integrated aliases for Deafness, Autosomal Recessive 7:

Name: Deafness, Autosomal Recessive 7 53 28 13 69
Dfnb7 53 12 71 51
Dfnb11 53 12 71
Autosomal Recessive Nonsyndromic Deafness 7 12 14
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 7 71
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 7 71
Deafness Neurosensory Autosomal Recessive 11 71
Deafness Neurosensory Autosomal Recessive 7 71
Deafness, Autosomal Recessive 11; Dfnb11 53
Deafness, Autosomal Recessive 11 53
Deafness, Autosomal Recessive, 7 71
Autosomal Recessive Deafness 7 12

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive.


HPO:

31
deafness, autosomal recessive 7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 600974
Disease Ontology 12 DOID:0110520
ICD10 32 H90.3
MedGen 39 C1832978
MeSH 41 D006319
SNOMED-CT via HPO 65 258211005 60700002
UMLS 69 C1832978

Summaries for Deafness, Autosomal Recessive 7

UniProtKB/Swiss-Prot : 71 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 non-syndromic genetic deafness and autosomal recessive nonsyndromic deafness, and has symptoms including sensorineural hearing impairment An important gene associated with Deafness, Autosomal Recessive 7 is TMC1 (Transmembrane Channel Like 1). Affiliated tissues include brain.

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 32 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 Recessive 105 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 Nonsyndromic Deafness
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86

Diseases related to Deafness, Autosomal Recessive 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 non-syndromic genetic deafness 10.1 GJB2 TMC1
2 autosomal recessive nonsyndromic deafness 10.1 GJB2 TMC1
3 autosomal dominant non-syndromic sensorineural deafness type dfna 10.1 GJB2 TMC1
4 congenital cytomegalovirus 10.0 GJB2 MT-RNR1
5 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.9 GJB2 TMC1
6 deafness, autosomal recessive 12 9.9 GJB2 MT-RNR1
7 inner ear disease 9.9 GJB2 MT-RNR1
8 autosomal dominant nonsyndromic deafness 9.9 GJB2 TMC1
9 hodgkin's lymphoma, nodular sclerosis 9.8 GJB2 MT-RNR1 TMC1
10 deafness, autosomal recessive 30 9.8 GJB2 MT-RNR1 TMC1
11 auditory system disease 9.7 GJB2 MT-RNR1 TMC1
12 sensorineural hearing loss 9.7 GJB2 TMC1
13 nonsyndromic deafness 9.7 GJB2 MT-RNR1 TMC1
14 deafness, autosomal dominant 36 9.3 GJB2 MT-RNR1 STT3A TMC1
15 deafness, autosomal recessive 63 9.1 GJB2 STT3A TMC1 TPCN2

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

Symptoms via clinical synopsis from OMIM:

53
Ears:
neurosensory nonsyndromic hearing impairment.


Clinical features from OMIM:

600974

Human phenotypes related to Deafness, Autosomal Recessive 7:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407

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 28 TMC1

Anatomical Context for Deafness, Autosomal Recessive 7

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

38
Brain

Publications for Deafness, Autosomal Recessive 7

Variations for Deafness, Autosomal Recessive 7

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

71
# 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 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 TMC1 NM_138691.2(TMC1): c.1165C> T (p.Arg389Ter) single nucleotide variant Pathogenic rs151001642 GRCh37 Chromosome 9, 75404174: 75404174
2 TMC1 NM_138691.2(TMC1): c.674C> T (p.Pro225Leu) single nucleotide variant Likely pathogenic rs370088722 GRCh37 Chromosome 9, 75369733: 75369733
3 TMC1 NM_138691.2(TMC1): c.100C> T (p.Arg34Ter) single nucleotide variant Pathogenic rs121908073 GRCh37 Chromosome 9, 75309494: 75309494
4 TMC1 NM_138691.2(TMC1): c.1960A> G (p.Met654Val) single nucleotide variant Pathogenic rs121908074 GRCh37 Chromosome 9, 75435954: 75435954
5 TMC1 TMC1, IVS5DS, G-T, +1 single nucleotide variant Pathogenic
6 TMC1 NM_138691.2(TMC1): c.1543T> C (p.Cys515Arg) single nucleotide variant Pathogenic rs121908076 GRCh37 Chromosome 9, 75407245: 75407245
7 TMC1 NM_138691.2(TMC1): c.1939T> C (p.Ser647Pro) single nucleotide variant Pathogenic rs138527651 GRCh37 Chromosome 9, 75435933: 75435933
8 TMC1 NM_138691.2(TMC1): c.15dupA (p.Val6Serfs) duplication Pathogenic rs878853229 GRCh37 Chromosome 9, 75263579: 75263579
9 TMC1 NM_138691.2(TMC1): c.229delA (p.Arg77Glufs) deletion Pathogenic rs878853230 GRCh38 Chromosome 9, 72694707: 72694707
10 TMC1 NM_138691.2(TMC1): c.1114G> A (p.Val372Met) single nucleotide variant Likely pathogenic rs367924428 GRCh37 Chromosome 9, 75404123: 75404123
11 TMC1 NM_138691.2(TMC1): c.1532C> T (p.Pro511Leu) single nucleotide variant Pathogenic rs727503483 GRCh37 Chromosome 9, 75407234: 75407234

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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