MCID: DFN124
MIFTS: 37

Deafness, Autosomal Recessive 6

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

Aliases & Classifications for Deafness, Autosomal Recessive 6

MalaCards integrated aliases for Deafness, Autosomal Recessive 6:

Name: Deafness, Autosomal Recessive 6 54 29 13 69
Autosomal Recessive Nonsyndromic Deafness 6 12 14
Dfnb6 12 71
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 6 71
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 6 71
Neurosensory Nonsyndromic Recessive Deafness 6 71
Deafness Neurosensory Autosomal Recessive 6 71
Deafness, Autosomal Recessive, 6 71
Autosomal Recessive Deafness 6 12
Nsrd6 71

Characteristics:

OMIM:

54
Miscellaneous:
congenital or prelingual onset

Inheritance:
autosomal recessive


HPO:

32
deafness, autosomal recessive 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 600971
Disease Ontology 12 DOID:0110512
ICD10 33 H90.3
MedGen 40 C1832992
MeSH 42 D006319

Summaries for Deafness, Autosomal Recessive 6

UniProtKB/Swiss-Prot : 71 Deafness, autosomal recessive, 6: 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 6, also known as autosomal recessive nonsyndromic deafness 6, is related to dfnb 6 nonsyndromic hearing loss and deafness and spinocerebellar ataxia 18, and has symptoms including hearing impairment An important gene associated with Deafness, Autosomal Recessive 6 is TMIE (Transmembrane Inner Ear), and among its related pathways/superpathways is Mineral absorption. Affiliated tissues include brain, and related phenotypes are hearing/vestibular/ear and nervous system

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 TMIE gene on chromosome 3p21.

Description from OMIM: 600971

Related Diseases for Deafness, Autosomal Recessive 6

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 Deafness, Autosomal Recessive 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
id Related Disease Score Top Affiliating Genes
1 dfnb 6 nonsyndromic hearing loss and deafness 10.8
2 spinocerebellar ataxia 18 10.4 SLC26A3 SLC26A6
3 fascioliasis 10.1 GJB2 TMIE
4 epiphyseal dysplasia, multiple, 4 10.1 SLC26A3 SLC26A5
5 usher syndrome, type 2a 10.0 GSK3B USH2A
6 deafness, autosomal recessive 12 10.0 ADGRV1 MYO7A USH2A
7 asthma-related traits 8 10.0 ADGRV1 MYO7A USH2A
8 retinitis pigmentosa 61 10.0 ADGRV1 MYO7A USH2A
9 trichohepatoenteric syndrome 1 10.0 ADGRV1 MYO7A USH2A
10 psoriatic arthritis 9.9 GJB2 TMIE
11 diabetes persistent mullerian ducts 9.9 GJB2 MYO7A
12 hyperphenylalaninemia, mild, non-bh4-deficient 9.9 GJB2 MYO7A
13 atelosteogenesis ii 9.9 SLC26A3 SLC26A5
14 deafness, autosomal dominant 11 9.9 GJB2 MYO7A
15 severe combined immunodeficiency, athabascan type 9.8 GJB2 MYO7A
16 microcephaly and chorioretinopathy, autosomal recessive, 3 9.8 GJB2 MYO7A
17 nonsyndromic hydrocephalus, ccdc88c-related 9.8 GJB2 USH2A
18 narcissistic personality disorder 9.7 GJB2 MYO7A TMIE
19 congenital muscular dystrophy due to lmna mutation 9.7 GJB2 MYO7A
20 nodular lichen myxedematosus 9.7 GJB2 MYO7A SLC17A8
21 autosomal recessive nonsyndromic deafness 8 9.6 GJB2 MYO7A
22 mixed lacrimal gland cancer 9.6 GJB2 MYO7A
23 pituitary adenoma 9.5 GJB2 MYO7A
24 usher syndrome type 1h 9.5 ADGRV1 GSK3B MYO7A USH2A
25 deafness, autosomal recessive 2 9.5 ADGRV1 GSK3B MYO7A USH2A
26 deafness, autosomal recessive 53 9.4 GJB2 MYO7A USH2A
27 endometritis 9.4 GJB2 MYO7A USH2A
28 fibrosis of extraocular muscles, congenital, 2 9.3 GJB2 MYO7A
29 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.3 GJB2 SLC26A3 SLC26A5
30 brugada syndrome 9.2 ADGRV1 GJB2 MYO7A USH2A
31 discrete papular lichen myxedematosus 9.1 GJB2 MYO7A SLC26A5 TMIE
32 dihydrolipoamide dehydrogenase deficiency 9.1 GJB2 MYO7A SLC26A5 SLC26A6
33 autosomal recessive nonsyndromic deafness 8.6 ADGRV1 GJB2 MYO7A SLC17A8 TMIE USH2A
34 robinow syndrome, autosomal dominant 1 6.0 ADGRV1 GJB2 GSK3B LTF MAP4 MYO7A

Graphical network of the top 20 diseases related to Deafness, Autosomal Recessive 6:



Diseases related to Deafness, Autosomal Recessive 6

Symptoms & Phenotypes for Deafness, Autosomal Recessive 6

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Ears:
hearing loss, severe to profound


Clinical features from OMIM:

600971

Human phenotypes related to Deafness, Autosomal Recessive 6:

32
id Description HPO Frequency HPO Source Accession
1 hearing impairment 32 obligate (100%) HP:0000365

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 6:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.5 ADGRV1 GJB2 MYO7A SLC17A8 SLC26A5 TMIE
2 nervous system MP:0003631 9.23 ADGRV1 GJB2 GSK3B MYO7A SLC17A8 SLC26A5

Drugs & Therapeutics for Deafness, Autosomal Recessive 6

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Deafness, Autosomal Recessive 6

Genetic Tests for Deafness, Autosomal Recessive 6

Genetic tests related to Deafness, Autosomal Recessive 6:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 6 29

Anatomical Context for Deafness, Autosomal Recessive 6

MalaCards organs/tissues related to Deafness, Autosomal Recessive 6:

39
Brain

Publications for Deafness, Autosomal Recessive 6

Variations for Deafness, Autosomal Recessive 6

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Recessive 6:

71
id Symbol AA change Variation ID SNP ID
1 TMIE p.Arg81Cys VAR_021524 rs28942096
2 TMIE p.Arg84Trp VAR_021525 rs28942097
3 TMIE p.Arg92Trp VAR_021526 rs28941781

ClinVar genetic disease variations for Deafness, Autosomal Recessive 6:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TMIE NM_147196.2(TMIE): c.122_125delCGCC (p.Pro41Leufs) deletion Pathogenic rs876661301 GRCh37 Chromosome 3, 46747308: 46747311
2 TMIE NM_147196.2(TMIE): c.241C> T (p.Arg81Cys) single nucleotide variant Pathogenic rs28942096 GRCh37 Chromosome 3, 46750645: 46750645
3 TMIE NM_147196.2(TMIE): c.250C> T (p.Arg84Trp) single nucleotide variant Pathogenic rs28942097 GRCh37 Chromosome 3, 46750654: 46750654
4 TMIE NM_147196.2(TMIE): c.274C> T (p.Arg92Trp) single nucleotide variant Pathogenic rs28941781 GRCh37 Chromosome 3, 46750678: 46750678
5 TMIE NM_147196.2(TMIE): c.94-2_98delAGCCCAGinsC indel Pathogenic rs876657371 GRCh37 Chromosome 3, 46747278: 46747284
6 TMIE NM_147196.2(TMIE): c.170G> A (p.Trp57Ter) single nucleotide variant Pathogenic rs267607120 GRCh37 Chromosome 3, 46747356: 46747356

Expression for Deafness, Autosomal Recessive 6

Search GEO for disease gene expression data for Deafness, Autosomal Recessive 6.

Pathways for Deafness, Autosomal Recessive 6

Pathways related to Deafness, Autosomal Recessive 6 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.33 SLC26A3 SLC26A6

GO Terms for Deafness, Autosomal Recessive 6

Cellular components related to Deafness, Autosomal Recessive 6 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 brush border membrane GO:0031526 9.37 SLC26A3 SLC26A6
2 photoreceptor inner segment GO:0001917 9.32 MYO7A USH2A
3 photoreceptor connecting cilium GO:0032391 9.26 MYO7A USH2A
4 stereocilium GO:0032420 9.16 ADGRV1 MYO7A
5 sperm midpiece GO:0097225 8.96 SLC26A3 SLC26A6
6 apical plasma membrane GO:0016324 8.92 MYO7A SLC26A3 SLC26A6 USH2A

Biological processes related to Deafness, Autosomal Recessive 6 according to GeneCards Suite gene sharing:

(show all 23)
id Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.91 GJB2 SLC17A8 SLC26A3 SLC26A5 SLC26A6
2 ion transport GO:0006811 9.9 LTF SLC17A8 SLC26A3 SLC26A6
3 visual perception GO:0007601 9.75 ADGRV1 MYO7A USH2A
4 chloride transmembrane transport GO:1902476 9.71 SLC26A3 SLC26A5 SLC26A6
5 regulation of membrane potential GO:0042391 9.7 SLC26A3 SLC26A5 SLC26A6
6 cellular response to cAMP GO:0071320 9.61 SLC26A3 SLC26A6
7 cell communication GO:0007154 9.61 ADGRV1 GJB2
8 bicarbonate transport GO:0015701 9.61 SLC26A3 SLC26A5 SLC26A6
9 photoreceptor cell maintenance GO:0045494 9.59 ADGRV1 USH2A
10 response to ischemia GO:0002931 9.58 GJB2 SLC26A5
11 anion transmembrane transport GO:0098656 9.58 SLC26A3 SLC26A5 SLC26A6
12 cochlea development GO:0090102 9.57 SLC17A8 SLC26A5
13 anion transport GO:0006820 9.56 SLC26A3 SLC26A6
14 sperm capacitation GO:0048240 9.55 SLC26A3 SLC26A6
15 regulation of intracellular pH GO:0051453 9.54 SLC26A3 SLC26A5 SLC26A6
16 sulfate transport GO:0008272 9.5 SLC26A3 SLC26A5 SLC26A6
17 inner ear receptor cell differentiation GO:0060113 9.49 MYO7A USH2A
18 maintenance of animal organ identity GO:0048496 9.48 ADGRV1 USH2A
19 intracellular pH elevation GO:0051454 9.46 SLC26A3 SLC26A6
20 sulfate transmembrane transport GO:1902358 9.43 SLC26A3 SLC26A5 SLC26A6
21 sensory perception of light stimulus GO:0050953 9.33 ADGRV1 MYO7A USH2A
22 sensory perception of sound GO:0007605 9.17 ADGRV1 GJB2 MYO7A SLC17A8 SLC26A5 TMIE
23 oxalate transport GO:0019532 9.13 SLC26A3 SLC26A5 SLC26A6

Molecular functions related to Deafness, Autosomal Recessive 6 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 chloride channel activity GO:0005254 9.54 SLC26A3 SLC26A5 SLC26A6
2 anion:anion antiporter activity GO:0015301 9.5 SLC26A3 SLC26A5 SLC26A6
3 spectrin binding GO:0030507 9.46 MYO7A SLC26A5
4 inorganic anion exchanger activity GO:0005452 9.43 SLC26A3 SLC26A6
5 bicarbonate transmembrane transporter activity GO:0015106 9.43 SLC26A3 SLC26A5 SLC26A6
6 chloride transmembrane transporter activity GO:0015108 9.4 SLC26A3 SLC26A6
7 sulfate transmembrane transporter activity GO:0015116 9.33 SLC26A3 SLC26A5 SLC26A6
8 secondary active sulfate transmembrane transporter activity GO:0008271 9.13 SLC26A3 SLC26A5 SLC26A6
9 oxalate transmembrane transporter activity GO:0019531 8.8 SLC26A3 SLC26A5 SLC26A6

Sources for Deafness, Autosomal Recessive 6

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
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