MCID: ATS342
MIFTS: 28

Autosomal Dominant Nonsyndromic Deafness 6

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

Aliases & Classifications for Autosomal Dominant Nonsyndromic Deafness 6

MalaCards integrated aliases for Autosomal Dominant Nonsyndromic Deafness 6:

Name: Autosomal Dominant Nonsyndromic Deafness 6 12 14
Dfna6 12 52
Autosomal Dominant Deafness 14 12
Autosomal Dominant Deafness 38 12
Deafness, Autosomal Dominant 6 69
Autosomal Dominant Deafness 6 12
Dfna14 12
Dfna38 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110584
ICD10 33 H90.3

Summaries for Autosomal Dominant Nonsyndromic Deafness 6

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and low frequency progressive hearing loss and has material basis in mutation in the WFS1 gene on chromosome 4p16.

MalaCards based summary : Autosomal Dominant Nonsyndromic Deafness 6, also known as dfna6, is related to deafness, autosomal dominant 6/14/38 and dfna 6/14/38 nonsyndromic hearing loss and deafness. An important gene associated with Autosomal Dominant Nonsyndromic Deafness 6 is WFS1 (Wolframin ER Transmembrane Glycoprotein). Related phenotypes are hearing/vestibular/ear and nervous system

Related Diseases for Autosomal Dominant Nonsyndromic Deafness 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 Autosomal Dominant Nonsyndromic Deafness 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 57)
id Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 6/14/38 10.8
2 dfna 6/14/38 nonsyndromic hearing loss and deafness 10.8
3 dfna6/14/38 nonsyndromic low frequency sensorineural hearing loss 10.8
4 inflammatory bowel disease 5 10.8 POU4F3 WFS1
5 deafness, autosomal recessive 27 10.7 MYH14 STRC
6 seizures, cortical blindness, microcephaly syndrome 10.7 DIAPH1 WFS1
7 cat eye syndrome 10.6 TMPRSS3 TMPRSS4
8 atrial fibrillation, familial, 14 10.5 TMPRSS3 TMPRSS4
9 autosomal dominant nonsyndromic deafness 20 10.5 STRC TMPRSS3 TMPRSS4
10 keratosis palmoplantaris striata ii 10.4 GSDME MYH14
11 preterm premature rupture of the membranes 10.4 MYO7A POU4F3
12 fundus albipunctatus 10.4 MYH14 MYO7A
13 birk-landau-perez syndrome 10.4 TMPRSS3 TMPRSS4
14 tooth agenesis, selective, 3 10.4 COCH POU4F3 STRC
15 pigmented nodular adrenocortical disease, primary, 2 10.3 GJB2 OTOF
16 developmental dysplasia of the hip 1 10.3 GJB2 OTOF
17 ullrich congenital muscular dystrophy 2 10.3 MYH14 MYO7A
18 cardiomyopathy, dilated, 1j 10.3 COL11A2 MYH14
19 deafness, autosomal recessive 23 10.3 COCH MYO7A
20 deafness, autosomal recessive 9 10.3 GJB2 OTOF
21 amelogenesis imperfecta, type ig 10.2 CDH23 MYO7A
22 deafness, autosomal recessive 37 10.2 COCH MYH14 MYO7A
23 deafness, autosomal recessive 12 10.2 CDH23 MYO7A
24 psoriatic arthritis 10.1 COL11A2 DIAPH1 GJB2
25 orofacial cleft 10.1 GJB2 OTOF TMPRSS3
26 macrothrombocytopenia and progressive sensorineural deafness 10.0 GSDME MYH14 MYO7A
27 fascioliasis 10.0 GJB2 SLC26A4
28 cataract 26, multiple types 10.0 GJB2 SLC26A4
29 asthma-related traits 8 10.0 CDH23 MYO7A
30 robinow syndrome, autosomal dominant 1 9.9 GJB2 MYO7A
31 diabetes persistent mullerian ducts 9.9 GJB2 MYO7A OTOF
32 deafness, autosomal dominant 11 9.9 GJB2 MYO7A OTOF
33 lymphoplasmacytic lymphoma 9.9 MYO7A SLC26A4 WFS1
34 deafness, autosomal recessive 18a 9.9 CDH23 MYO7A
35 autosomal dominant nonsyndromic deafness 69 9.8 GSDME MYH14
36 viral laryngitis 9.7 COCH GJB2 SLC26A4
37 brugada syndrome 9.7 CDH23 GJB2 MYO7A
38 deafness, autosomal dominant 2a 9.6 COCH GJB2 TMPRSS3 TMPRSS4 WFS1
39 severe combined immunodeficiency, athabascan type 9.4 GJB2 MYH14 MYO7A SLC26A4
40 x-linked nonsyndromic deafness 9.4 COCH COL11A2 MYH14 MYO7A POU4F3 WFS1
41 leber congenital amaurosis 14 9.4 CDH23 GJB2 OTOF SLC26A4
42 hyperphenylalaninemia, mild, non-bh4-deficient 9.3 CDH23 GJB2 MYO7A SLC26A4
43 pituitary adenoma 9.0 CDH23 GJB2 MYO7A SLC26A4 WFS1
44 nonsyndromic hydrocephalus, ccdc88c-related 9.0 COCH GJB2 GSDME OTOF STRC TMPRSS3
45 bifid nose with or without anorectal and renal anomalies 8.9 CDH23 MYO7A OTOF SLC26A4 TMPRSS3 TMPRSS4
46 ectodermal dysplasia 6, hair/nail type 8.9 CDH23 MYO7A OTOF SLC26A4 TMPRSS3 TMPRSS4
47 autosomal recessive nonsyndromic deafness 8 8.7 CDH23 GJB2 MYH14 MYO7A OTOF SLC26A4
48 mixed lacrimal gland cancer 8.7 CDH23 COCH GJB2 MYO7A SLC26A4 WFS1
49 dihydrolipoamide dehydrogenase deficiency 8.3 CDH23 COCH GJB2 MYO7A OTOF SLC26A4
50 nodular lichen myxedematosus 8.1 COCH COL11A2 DIAPH1 GJB2 GSDME MYH14

Graphical network of the top 20 diseases related to Autosomal Dominant Nonsyndromic Deafness 6:



Diseases related to Autosomal Dominant Nonsyndromic Deafness 6

Symptoms & Phenotypes for Autosomal Dominant Nonsyndromic Deafness 6

MGI Mouse Phenotypes related to Autosomal Dominant Nonsyndromic Deafness 6:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.9 CDH23 COCH COL11A2 FGFR3 GJB2 MYO7A
2 nervous system MP:0003631 9.7 FGFR3 GJB2 MYH14 MYO7A OTOF POU4F3
3 no phenotypic analysis MP:0003012 9.17 DIAPH1 FGFR3 GJB2 MYH14 MYO7A OTOF

Drugs & Therapeutics for Autosomal Dominant Nonsyndromic Deafness 6

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Nonsyndromic Deafness 6

Genetic Tests for Autosomal Dominant Nonsyndromic Deafness 6

Anatomical Context for Autosomal Dominant Nonsyndromic Deafness 6

Publications for Autosomal Dominant Nonsyndromic Deafness 6

Variations for Autosomal Dominant Nonsyndromic Deafness 6

Expression for Autosomal Dominant Nonsyndromic Deafness 6

Search GEO for disease gene expression data for Autosomal Dominant Nonsyndromic Deafness 6.

Pathways for Autosomal Dominant Nonsyndromic Deafness 6

GO Terms for Autosomal Dominant Nonsyndromic Deafness 6

Cellular components related to Autosomal Dominant Nonsyndromic Deafness 6 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 stereocilium GO:0032420 8.8 CDH23 MYO7A STRC

Biological processes related to Autosomal Dominant Nonsyndromic Deafness 6 according to GeneCards Suite gene sharing:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 regulation of cell shape GO:0008360 9.67 COCH DIAPH1 MYH14
2 visual perception GO:0007601 9.62 CDH23 MYO7A POU4F3 WFS1
3 inner ear receptor stereocilium organization GO:0060122 9.48 CDH23 MYO7A
4 actin filament-based movement GO:0030048 9.46 MYH14 MYO7A
5 sensory perception of sound GO:0007605 9.44 CDH23 COCH COL11A2 DIAPH1 GJB2 MYH14
6 sensory perception of light stimulus GO:0050953 9.43 CDH23 MYO7A
7 auditory receptor cell stereocilium organization GO:0060088 9.4 MYO7A STRC
8 auditory receptor cell differentiation GO:0042491 9.37 MYO7A POU4F3
9 inner ear development GO:0048839 9.33 GJB2 MYO7A POU4F3
10 equilibrioception GO:0050957 9.26 CDH23 MYO7A
11 inner ear receptor cell differentiation GO:0060113 8.96 MYO7A POU4F3

Molecular functions related to Autosomal Dominant Nonsyndromic Deafness 6 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 microfilament motor activity GO:0000146 8.96 MYH14 MYO7A
2 actin-dependent ATPase activity GO:0030898 8.62 MYH14 MYO7A

Sources for Autosomal Dominant Nonsyndromic Deafness 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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