MCID: DFN124
MIFTS: 35

Deafness, Autosomal Recessive 6

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

Aliases & Classifications for Deafness, Autosomal Recessive 6

MalaCards integrated aliases for Deafness, Autosomal Recessive 6:

Name: Deafness, Autosomal Recessive 6 57 29 13 6 73
Dfnb6 57 12 75
Neurosensory Nonsyndromic Recessive Deafness 6 57 75
Autosomal Recessive Nonsyndromic Deafness 6 12 15
Nsrd6 57 75
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 6 75
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 6 75
Neurosensory Nonsyndromic Recessive Deafness 6; Nsrd6 57
Deafness Neurosensory Autosomal Recessive 6 75
Deafness, Autosomal Recessive, Type 6 40
Deafness, Autosomal Recessive, 6 75
Autosomal Recessive Deafness 6 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
congenital or prelingual onset


HPO:

32
deafness, autosomal recessive 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 600971
Disease Ontology 12 DOID:0110512
ICD10 33 H90.3
MedGen 42 C1832992
MeSH 44 D006319
UMLS 73 C1832992

Summaries for Deafness, Autosomal Recessive 6

UniProtKB/Swiss-Prot : 75 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 dfnb6, is related to retinitis pigmentosa-deafness syndrome and diarrhea 1, secretory chloride, congenital. 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 impairment and hearing/vestibular/ear

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 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 Deafness, Autosomal Recessive 57
Deafness, Autosomal Recessive 109 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 36 Autosomal Recessive Nonsyndromic Deafness 86
Otof-Related Deafness

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

(show all 35)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa-deafness syndrome 10.5 ADGRV1 MYO7A
2 diarrhea 1, secretory chloride, congenital 10.4 SLC26A3 SLC26A6
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
4 yemenite deaf-blind hypopigmentation syndrome 10.1 MYO7A USH2A
5 achondrogenesis, type ib 10.0 SLC26A3 SLC26A5
6 usher syndrome, type id 9.9 ADGRV1 MYO7A USH2A
7 usher syndrome, type iid 9.9 ADGRV1 MYO7A USH2A
8 usher syndrome, type iiia 9.9 ADGRV1 MYO7A USH2A
9 usher syndrome, type iic 9.9 ADGRV1 MYO7A USH2A
10 deafness, autosomal recessive 3 9.9 GJB2 MYO7A
11 dfnb1 9.9 GJB2 MYO7A
12 deafness, autosomal recessive 67 9.9 GJB2 TMIE
13 deafness, autosomal recessive 23 9.8 GJB2 MYO7A
14 deafness, autosomal recessive 2 9.8 GJB2 MYO7A
15 diastrophic dysplasia 9.8 SLC26A3 SLC26A5
16 deafness, autosomal recessive 12 9.8 GJB2 MYO7A
17 usher syndrome, type iia 9.8 GSK3B USH2A
18 deafness, autosomal recessive 30 9.7 GJB2 MYO7A
19 deafness, autosomal recessive 16 9.7 GJB2 MYO7A
20 autosomal recessive nonsyndromic deafness 3 9.7 GJB2 MYO7A
21 autosomal dominant non-syndromic sensorineural deafness type dfna 9.6 GJB2 MYO7A SLC17A8
22 auditory system disease 9.6 GJB2 MYO7A TMIE
23 autosomal dominant nonsyndromic deafness 9.5 GJB2 MYO7A SLC17A8
24 deafness, autosomal dominant 6 9.4 GJB2 MYO7A
25 non-syndromic genetic deafness 9.3 GJB2 USH2A
26 usher syndrome type 2 9.3 ADGRV1 GSK3B MYO7A USH2A
27 usher syndrome, type i 9.3 ADGRV1 GSK3B MYO7A USH2A
28 deafness, autosomal dominant 13 9.3 GJB2 MYO7A USH2A
29 sensorineural hearing loss 9.2 GJB2 MYO7A USH2A
30 inner ear disease 9.1 GJB2 MYO7A
31 pendred syndrome 9.1 GJB2 SLC26A3 SLC26A5
32 usher syndrome 9.0 ADGRV1 GJB2 MYO7A USH2A
33 autosomal recessive non-syndromic sensorineural deafness type dfnb 8.9 GJB2 MYO7A SLC26A5 TMIE
34 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 8.8 GJB2 MYO7A SLC26A5 SLC26A6
35 nonsyndromic deafness 8.3 ADGRV1 GJB2 MYO7A SLC17A8 TMIE USH2A

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:

57
Head And Neck Ears:
hearing loss, severe to profound


Clinical features from OMIM:

600971

Human phenotypes related to Deafness, Autosomal Recessive 6:

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

MGI Mouse Phenotypes related to Deafness, Autosomal Recessive 6:

46
# 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

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Recessive 6

Genetic Tests for Deafness, Autosomal Recessive 6

Genetic tests related to Deafness, Autosomal Recessive 6:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Recessive 6 29 TMIE

Anatomical Context for Deafness, Autosomal Recessive 6

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

41
Brain

Publications for Deafness, Autosomal Recessive 6

Variations for Deafness, Autosomal Recessive 6

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

75
# 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
(show all 12)
# 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.122_125delCGCC (p.Pro41Leufs) deletion Pathogenic rs876661301 GRCh38 Chromosome 3, 46705818: 46705821
3 TMIE NM_147196.2(TMIE): c.241C> T (p.Arg81Cys) single nucleotide variant Pathogenic rs28942096 GRCh37 Chromosome 3, 46750645: 46750645
4 TMIE NM_147196.2(TMIE): c.241C> T (p.Arg81Cys) single nucleotide variant Pathogenic rs28942096 GRCh38 Chromosome 3, 46709155: 46709155
5 TMIE NM_147196.2(TMIE): c.250C> T (p.Arg84Trp) single nucleotide variant Pathogenic rs28942097 GRCh37 Chromosome 3, 46750654: 46750654
6 TMIE NM_147196.2(TMIE): c.250C> T (p.Arg84Trp) single nucleotide variant Pathogenic rs28942097 GRCh38 Chromosome 3, 46709164: 46709164
7 TMIE NM_147196.2(TMIE): c.274C> T (p.Arg92Trp) single nucleotide variant Pathogenic rs28941781 GRCh37 Chromosome 3, 46750678: 46750678
8 TMIE NM_147196.2(TMIE): c.274C> T (p.Arg92Trp) single nucleotide variant Pathogenic rs28941781 GRCh38 Chromosome 3, 46709188: 46709188
9 TMIE NM_147196.2(TMIE): c.94-2_98delAGCCCAGinsC indel Pathogenic rs876657371 GRCh37 Chromosome 3, 46747278: 46747284
10 TMIE NM_147196.2(TMIE): c.94-2_98delAGCCCAGinsC indel Pathogenic rs876657371 GRCh38 Chromosome 3, 46705788: 46705794
11 TMIE NM_147196.2(TMIE): c.170G> A (p.Trp57Ter) single nucleotide variant Pathogenic rs267607120 GRCh37 Chromosome 3, 46747356: 46747356
12 TMIE NM_147196.2(TMIE): c.170G> A (p.Trp57Ter) single nucleotide variant Pathogenic rs267607120 GRCh38 Chromosome 3, 46705866: 46705866

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:

# 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:

# 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 stereocilium GO:0032420 9.26 ADGRV1 MYO7A
4 photoreceptor connecting cilium GO:0032391 9.16 MYO7A USH2A
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)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.92 GJB2 SLC17A8 SLC26A3 SLC26A5 SLC26A6
2 ion transport GO:0006811 9.89 LTF SLC17A8 SLC26A3 SLC26A6
3 visual perception GO:0007601 9.75 ADGRV1 MYO7A USH2A
4 regulation of membrane potential GO:0042391 9.72 SLC26A3 SLC26A5 SLC26A6
5 chloride transmembrane transport GO:1902476 9.71 SLC26A3 SLC26A5 SLC26A6
6 bicarbonate transport GO:0015701 9.63 SLC26A3 SLC26A5 SLC26A6
7 inner ear development GO:0048839 9.61 GJB2 MYO7A
8 cellular response to cAMP GO:0071320 9.61 SLC26A3 SLC26A6
9 anion transmembrane transport GO:0098656 9.61 SLC26A3 SLC26A5 SLC26A6
10 cell communication GO:0007154 9.6 ADGRV1 GJB2
11 photoreceptor cell maintenance GO:0045494 9.58 ADGRV1 USH2A
12 regulation of intracellular pH GO:0051453 9.58 SLC26A3 SLC26A5 SLC26A6
13 cochlea development GO:0090102 9.57 SLC17A8 SLC26A5
14 sperm capacitation GO:0048240 9.56 SLC26A3 SLC26A6
15 anion transport GO:0006820 9.54 SLC17A8 SLC26A3 SLC26A6
16 inner ear receptor cell differentiation GO:0060113 9.51 MYO7A USH2A
17 sulfate transport GO:0008272 9.5 SLC26A3 SLC26A5 SLC26A6
18 maintenance of animal organ identity GO:0048496 9.49 ADGRV1 USH2A
19 intracellular pH elevation GO:0051454 9.48 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 oxalate transport GO:0019532 9.13 SLC26A3 SLC26A5 SLC26A6
23 sensory perception of sound GO:0007605 9.1 ADGRV1 GJB2 MYO7A SLC17A8 SLC26A5 USH2A

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

# 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 antiporter activity GO:0015297 9.48 SLC26A3 SLC26A6
4 inorganic anion exchanger activity GO:0005452 9.46 SLC26A3 SLC26A6
5 spectrin binding GO:0030507 9.43 MYO7A SLC26A5
6 bicarbonate transmembrane transporter activity GO:0015106 9.43 SLC26A3 SLC26A5 SLC26A6
7 chloride transmembrane transporter activity GO:0015108 9.4 SLC26A3 SLC26A6
8 sulfate transmembrane transporter activity GO:0015116 9.33 SLC26A3 SLC26A5 SLC26A6
9 secondary active sulfate transmembrane transporter activity GO:0008271 9.13 SLC26A3 SLC26A5 SLC26A6
10 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
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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