MCID: DFN127
MIFTS: 23

Deafness, Autosomal Recessive 7 malady

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

Aliases & Classifications for Deafness, Autosomal Recessive 7

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Aliases & Descriptions for Deafness, Autosomal Recessive 7:

Name: Deafness, Autosomal Recessive 7 51 12 67
Dfnb7 11 69 49
Deafness, Autosomal Recessive, 7 69 26
Dfnb11 11 69
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 7 69
 
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 7 69
Deafness Neurosensory Autosomal Recessive 11 69
Autosomal Recessive Nonsyndromic Deafness 7 11
Deafness Neurosensory Autosomal Recessive 7 69
Autosomal Recessive Deafness 7 11

Characteristics:

HPO:

63
deafness, autosomal recessive 7:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 600974
Disease Ontology11 DOID:0110520
ICD1029 H90.3
MedGen36 C1832978
MeSH38 D006319

Summaries for Deafness, Autosomal Recessive 7

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UniProtKB/Swiss-Prot:69 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 dfnb 7/11 nonsyndromic hearing loss and 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:11 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:51 600974

Related Diseases for Deafness, Autosomal Recessive 7

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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 32
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 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 Recessive 103
Deafness, Autosomal Dominant 22 Deafness, Autosomal Recessive 37
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 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 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 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 Recessive 48 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 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 105 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 47 Autosomal Recessive Nonsyndromic Deafness 97
Autosomal Dominant Nonsyndromic Deafness 66 Autosomal Dominant Nonsyndromic Deafness 68
Autosomal Dominant Nonsyndromic Deafness 69 Autosomal Dominant Nonsyndromic Deafness 70
Otof-Related Deafness

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

idRelated DiseaseScoreTop Affiliating Genes
1dfnb 7/11 nonsyndromic hearing loss and deafness10.8

Symptoms for Deafness, Autosomal Recessive 7

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Symptoms by clinical synopsis from OMIM:

600974

Clinical features from OMIM:

600974

Human phenotypes related to Deafness, Autosomal Recessive 7:

 63
id Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment63 HP:0000407

Drugs & Therapeutics for Deafness, Autosomal Recessive 7

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Biomarker for Patient With Alport Disease or Highly Suspected for Alport DiseaseRecruitingNCT02718027
2Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Deafness, Autosomal Recessive 7

Genetic Tests for Deafness, Autosomal Recessive 7

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Genetic tests related to Deafness, Autosomal Recessive 7:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 726

Anatomical Context for Deafness, Autosomal Recessive 7

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

35
Brain

Animal Models for Deafness, Autosomal Recessive 7 or affiliated genes

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Publications for Deafness, Autosomal Recessive 7

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Variations for Deafness, Autosomal Recessive 7

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

69
id Symbol AA change Variation ID SNP ID
1TMC1p.Met654ValVAR_014126rs121908074

Clinvar genetic disease variations for Deafness, Autosomal Recessive 7:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TMC1NM_138691.2(TMC1): c.15dupA (p.Val6Serfs)duplicationPathogenicrs878853229GRCh37Chr 9, 75263579: 75263579
2TMC1NM_138691.2(TMC1): c.229delA (p.Arg77Glufs)deletionPathogenicrs878853230GRCh38Chr 9, 72694707: 72694707
3TMC1NM_138691.2(TMC1): c.1939T> C (p.Ser647Pro)SNV, CompoundHeterozygotePathogenicrs138527651GRCh37Chr 9, 75435933: 75435933
4TMC1NM_138691.2(TMC1): c.1114G> A (p.Val372Met)SNVLikely pathogenicrs367924428GRCh37Chr 9, 75404123: 75404123
5TMC1NM_138691.2(TMC1): c.100C> T (p.Arg34Ter)SNVPathogenicrs121908073GRCh37Chr 9, 75309494: 75309494
6TMC1NM_138691.2(TMC1): c.1960A> G (p.Met654Val)SNVPathogenicrs121908074GRCh37Chr 9, 75435954: 75435954
7TMC1TMC1, IVS5DS, G-T, +1SNVPathogenicChr na, -1: -1
8TMC1NM_138691.2(TMC1): c.1543T> C (p.Cys515Arg)SNVPathogenicrs121908076GRCh37Chr 9, 75407245: 75407245

Expression for genes affiliated with Deafness, Autosomal Recessive 7

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

Pathways for genes affiliated with Deafness, Autosomal Recessive 7

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GO Terms for genes affiliated with Deafness, Autosomal Recessive 7

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Sources for Deafness, Autosomal Recessive 7

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet