MCID: ATS005
MIFTS: 27

Autosomal Dominant Nonsyndromic Deafness malady

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

Aliases & Classifications for Autosomal Dominant Nonsyndromic Deafness

Aliases & Descriptions 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 69 and deafness, autosomal dominant 2a. An important gene associated with Autosomal Dominant Nonsyndromic Deafness is COCH (Cochlin). Related phenotypes are hearing/vestibular/ear and nervous system

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 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 8
Autosomal Recessive Nonsyndromic Deafness 97 Autosomal Dominant Nonsyndromic Deafness 12
Autosomal Dominant Nonsyndromic Deafness 20 Autosomal Dominant Nonsyndromic Deafness 6
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 Autosomal Dominant Nonsyndromic Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 77)
id Related Disease Score Top Affiliating Genes
1 autosomal dominant nonsyndromic deafness 69 33.1 COCH GJB2 MYH14 POU4F3
2 deafness, autosomal dominant 2a 32.5 COCH GJB2 KCNQ4
3 autosomal dominant nonsyndromic deafness 12 12.2
4 autosomal dominant nonsyndromic deafness 20 12.2
5 autosomal dominant nonsyndromic deafness 6 12.2
6 autosomal dominant nonsyndromic deafness 66 12.2
7 autosomal dominant nonsyndromic deafness 68 12.2
8 autosomal dominant nonsyndromic deafness 70 12.2
9 autosomal dominant deafness-onychodystrophy syndrome 11.8
10 deafness, autosomal dominant 54 11.6
11 deafness, autosomal dominant 11 11.6
12 deafness, autosomal dominant 15 11.6
13 deafness, autosomal dominant 48 11.6
14 deafness, autosomal dominant 67 11.6
15 deafness, autosomal dominant 52 11.6
16 deafness, autosomal dominant 25 11.6
17 deafness, autosomal dominant 17 11.6
18 deafness, autosomal dominant 21 11.6
19 deafness, autosomal dominant 64 11.6
20 deafness, autosomal dominant 13 11.6
21 deafness, autosomal dominant 41 11.6
22 deafness, autosomal dominant 31 11.6
23 deafness, autosomal dominant 7 11.6
24 deafness, autosomal dominant 22 11.6
25 deafness, autosomal dominant 49 11.6
26 deafness, autosomal dominant 10 11.6
27 deafness, autosomal dominant 43 11.6
28 deafness, autosomal dominant 50 11.6
29 deafness, autosomal dominant 53 11.6
30 deafness, autosomal dominant 16 11.6
31 deafness, autosomal dominant 28 11.6
32 deafness, autosomal dominant 9 11.6
33 deafness, autosomal dominant 18 11.6
34 deafness, autosomal dominant 23 11.6
35 deafness, autosomal dominant 44 11.6
36 deafness, autosomal dominant 36 11.6
37 deafness, autosomal dominant 51 11.6
38 deafness, autosomal dominant 65 11.6
39 deafness, autosomal dominant 1 11.6
40 deafness, autosomal dominant 59 11.6
41 deafness, autosomal dominant 4b 11.6
42 deafness, autosomal dominant 4a 11.5
43 deafness, autosomal dominant 2b 11.5
44 deafness, autosomal dominant 3a 11.5
45 deafness, autosomal dominant 3b 11.5
46 deafness, autosomal dominant 58 11.5
47 deafness, autosomal dominant 5 11.5
48 deafness, autosomal dominant 33 11.5
49 deafness, autosomal dominant 47 11.5
50 deafness, autosomal dominant 30 11.5

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

MGI Mouse Phenotypes related to Autosomal Dominant Nonsyndromic Deafness:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.56 CEACAM16 COCH GJB2 KCNQ4 KITLG POU4F3
2 nervous system MP:0003631 9.28 GJB2 HOMER2 KCNQ4 KITLG MCM2 MYH14

Drugs & Therapeutics for Autosomal Dominant Nonsyndromic Deafness

Interventional clinical trials:


id Name Status NCT ID Phase
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:

id Title Authors Year
1
A novel frameshift variant of COCH supports the hypothesis that haploinsufficiency is not a cause of autosomal dominant nonsyndromic deafness 9. ( 26631968 )
2016
2
Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family. ( 26196677 )
2015
3
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

GO Terms for Autosomal Dominant Nonsyndromic Deafness

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

id Name GO ID Score Top Affiliating Genes
1 stereocilium tip GO:0032426 8.62 CEACAM16 HOMER2

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

id Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.28 CEACAM16 COCH GJB2 HOMER2 KCNQ4 MYH14
2 inner ear development GO:0048839 9.16 GJB2 POU4F3
3 cochlea development GO:0090102 8.96 MCM2 SLC17A8

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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