MCID: ATS005
MIFTS: 31

Autosomal Dominant Nonsyndromic Deafness

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

Aliases & Classifications for Autosomal Dominant Nonsyndromic Deafness

MalaCards integrated aliases for Autosomal Dominant Nonsyndromic Deafness:

Name: Autosomal Dominant Nonsyndromic Deafness 12 14
Autosomal Dominant Deafness 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050564
ICD10 33 H90.3

Summaries for Autosomal Dominant Nonsyndromic Deafness

Disease Ontology : 12 A nonsyndromic deafness characterized by an autosomal dominant inheritance mode.

MalaCards based summary : Autosomal Dominant Nonsyndromic Deafness, also known as autosomal dominant deafness, is related to autosomal dominant nonsyndromic deafness 6 and autosomal dominant nonsyndromic deafness 69. An important gene associated with Autosomal Dominant Nonsyndromic Deafness is COCH (Cochlin), and among its related pathways/superpathways are Sertoli-Sertoli Cell Junction Dynamics and RhoGDI Pathway. Related phenotypes are Decreased viability and behavior/neurological

Related Diseases for Autosomal Dominant Nonsyndromic Deafness

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 83, show less)
id Related Disease Score Top Affiliating Genes
1 autosomal dominant nonsyndromic deafness 6 33.1 COL11A2 EYA4 TECTA
2 autosomal dominant nonsyndromic deafness 69 32.6 ACTG1 MYH14
3 deafness, autosomal dominant 2a 32.3 COCH WFS1
4 deafness, autosomal dominant 11 32.2 MYO6 MYO7A TECTA
5 autosomal dominant nonsyndromic deafness 12 12.2
6 autosomal dominant nonsyndromic deafness 20 12.2
7 autosomal dominant deafness-onychodystrophy syndrome 11.8
8 deafness, autosomal dominant 16 11.6
9 deafness, autosomal dominant 50 11.6
10 deafness, autosomal dominant 53 11.6
11 deafness, autosomal dominant 18 11.6
12 deafness, autosomal dominant 28 11.6
13 deafness, autosomal dominant 9 11.6
14 deafness, autosomal dominant 44 11.6
15 deafness, autosomal dominant 23 11.6
16 deafness, autosomal dominant 36 11.6
17 deafness, autosomal dominant 24 11.6
18 deafness, autosomal dominant 51 11.6
19 deafness, autosomal dominant 1 11.6
20 deafness, autosomal dominant 65 11.6
21 deafness, autosomal dominant 54 11.6
22 deafness, autosomal dominant 59 11.6
23 deafness, autosomal dominant 15 11.6
24 deafness, autosomal dominant 4b 11.6
25 deafness, autosomal dominant 52 11.6
26 deafness, autosomal dominant 48 11.6
27 deafness, autosomal dominant 21 11.6
28 deafness, autosomal dominant 25 11.6
29 deafness, autosomal dominant 67 11.6
30 deafness, autosomal dominant 13 11.6
31 deafness, autosomal dominant 64 11.6
32 deafness, autosomal dominant 17 11.6
33 deafness, autosomal dominant 7 11.6
34 deafness, autosomal dominant 31 11.6
35 deafness, autosomal dominant 41 11.6
36 deafness, autosomal dominant 49 11.6
37 deafness, autosomal dominant 22 11.6
38 deafness, autosomal dominant 66 11.6
39 deafness, autosomal dominant 43 11.6
40 deafness, autosomal dominant 10 11.6
41 deafness, autosomal dominant 5 11.5
42 deafness, autosomal dominant 33 11.5
43 deafness, autosomal dominant 70 11.5
44 deafness, autosomal dominant 47 11.5
45 deafness, autosomal dominant 27 11.5
46 deafness, autosomal dominant 68 11.5
47 deafness, autosomal dominant 30 11.5
48 deafness, autosomal dominant 56 11.5
49 deafness, autosomal dominant 40 11.5
50 deafness, autosomal dominant 4a 11.5
51 deafness, autosomal dominant 2b 11.5
52 deafness, autosomal dominant 3a 11.5
53 deafness, autosomal dominant 58 11.5
54 deafness, autosomal dominant 3b 11.5
55 auditory neuropathy, autosomal dominant, 1 10.8
56 tooth agenesis, selective, 3 10.5 COCH POU4F3
57 nonsyndromic deafness 10.2
58 inflammatory bowel disease 5 10.2 POU4F3 WFS1
59 mental retardation, autosomal dominant 31 10.2 MYO6 POU4F3
60 deafness, autosomal recessive 23 10.2 COCH MYO7A
61 celiac disease 11 10.0 COL11A2 EYA4
62 fibrosis of extraocular muscles, congenital, 2 10.0 MYO7A TMC1
63 preterm premature rupture of the membranes 9.9 MYO6 MYO7A POU4F3
64 nonsyndromic hydrocephalus, ccdc88c-related 9.9 COCH MYO6 TECTA TMC1
65 mixed lacrimal gland cancer 9.8 COCH MYO7A WFS1
66 fundus albipunctatus 9.8 MYH14 MYO6 MYO7A
67 dihydrolipoamide dehydrogenase deficiency 9.8 COCH MYO7A WFS1
68 ullrich congenital muscular dystrophy 2 9.7 MYH14 MYO6 MYO7A
69 macrothrombocytopenia and progressive sensorineural deafness 9.7 MYH14 MYO6 MYO7A
70 cardiomyopathy, dilated, 1j 9.7 COL11A2 EYA4 MYH14
71 deafness, autosomal recessive 37 9.5 COCH MYH14 MYO6 MYO7A
72 autosomal recessive nonsyndromic deafness 8 9.5 MYH14 MYO6 MYO7A TECTA
73 pituitary adenoma 9.5 MYO7A WFS1
74 narcissistic personality disorder 9.5 COCH MYO7A POU4F3 TECTA TMC1
75 severe combined immunodeficiency, athabascan type 9.5 MYH14 MYO6 MYO7A TMC1
76 microcephaly and chorioretinopathy, autosomal recessive, 3 9.3 COCH COL11A2 MYO7A WFS1
77 discrete papular lichen myxedematosus 9.0 COL11A2 MYO6 MYO7A TECTA TMC1
78 deafness, autosomal recessive 53 8.9 COCH COL11A2 EYA4 MYO7A WFS1
79 endometritis 8.8 COCH EYA4 MYO6 MYO7A TMC1 WFS1
80 congenital muscular dystrophy due to lmna mutation 8.5 COCH COL11A2 MYH14 MYO7A POU4F3 WFS1
81 autosomal recessive nonsyndromic deafness 6.0 ACTG1 COCH COL11A2 EYA4 MCM2 MYH14
82 x-linked nonsyndromic deafness 6.0 ACTG1 COCH COL11A2 EYA4 MCM2 MYH14
83 nodular lichen myxedematosus 6.0 ACTG1 COCH COL11A2 EYA4 MCM2 MYH14

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



Diseases related to Autosomal Dominant Nonsyndromic Deafness

Symptoms & Phenotypes for Autosomal Dominant Nonsyndromic Deafness

GenomeRNAi Phenotypes related to Autosomal Dominant Nonsyndromic Deafness according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 9.17 ACTG1
2 Decreased viability GR00381-A-1 9.17 MCM2 MYH14 MYO7A TMC1 ACTG1 EYA4

MGI Mouse Phenotypes related to Autosomal Dominant Nonsyndromic Deafness:

44 (showing 4, show less)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.86 ACTG1 MCM2 MYO6 MYO7A POU4F3 TECTA
2 growth/size/body region MP:0005378 9.76 ACTG1 COL11A2 EYA4 MCM2 MYO6 MYO7A
3 hearing/vestibular/ear MP:0005377 9.61 MYO7A POU4F3 TECTA TMC1 ACTG1 COCH
4 nervous system MP:0003631 9.23 ACTG1 MCM2 MYH14 MYO6 MYO7A POU4F3

Drugs & Therapeutics for Autosomal Dominant Nonsyndromic Deafness

Interventional clinical trials:

(showing 1, show less)

id Name Status NCT ID Phase Drugs
1 Epidemiology of Non-syndromic Dominant Deafness Completed NCT01150305

Search NIH Clinical Center for Autosomal Dominant Nonsyndromic Deafness

Genetic Tests for Autosomal Dominant Nonsyndromic Deafness

Anatomical Context for Autosomal Dominant Nonsyndromic Deafness

Publications for Autosomal Dominant Nonsyndromic Deafness

Articles related to Autosomal Dominant Nonsyndromic Deafness:

(showing 4, show less)
id Title Authors Year
1
Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9. ( 28099493 )
2017
2
A novel frameshift variant of COCH supports the hypothesis that haploinsufficiency is not a cause of autosomal dominant nonsyndromic deafness 9. ( 26631968 )
2016
3
Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family. ( 26196677 )
2015
4
Mapping of the alpha-tectorin gene (TECTA) to mouse chromosome 9 and human chromosome 11: a candidate for human autosomal dominant nonsyndromic deafness. ( 9503015 )
1998

Variations for Autosomal Dominant Nonsyndromic Deafness

Expression for Autosomal Dominant Nonsyndromic Deafness

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

Pathways for Autosomal Dominant Nonsyndromic Deafness

Pathways related to Autosomal Dominant Nonsyndromic Deafness according to GeneCards Suite gene sharing:

(showing 2, show less)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.04 ACTG1 MYH14 MYO6 MYO7A
2
Show member pathways
11.3 ACTG1 MYH14 MYO6 MYO7A

GO Terms for Autosomal Dominant Nonsyndromic Deafness

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

(showing 2, show less)
id Name GO ID Score Top Affiliating Genes
1 filamentous actin GO:0031941 8.96 ACTG1 MYO6
2 myosin complex GO:0016459 8.8 MYH14 MYO6 MYO7A

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

(showing 6, show less)
id Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.46 EYA4 MYO7A POU4F3 WFS1
2 inner ear development GO:0048839 9.43 EYA4 MYO7A POU4F3
3 auditory receptor cell differentiation GO:0042491 9.37 MYO7A POU4F3
4 inner ear receptor cell differentiation GO:0060113 9.32 MYO7A POU4F3
5 sensory perception of sound GO:0007605 9.32 COCH COL11A2 EYA4 MYH14 MYO6 MYO7A
6 actin filament-based movement GO:0030048 9.13 MYH14 MYO6 MYO7A

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

(showing 6, show less)
id Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.5 MYH14 MYO6 MYO7A
2 ADP binding GO:0043531 9.37 MYO6 MYO7A
3 motor activity GO:0003774 9.33 MYH14 MYO6 MYO7A
4 microfilament motor activity GO:0000146 9.26 MYH14 MYO7A
5 actin-dependent ATPase activity GO:0030898 8.96 MYH14 MYO7A
6 calmodulin binding GO:0005516 8.92 MYH14 MYO6 MYO7A WFS1

Sources for Autosomal Dominant Nonsyndromic Deafness

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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