MCID: ATS005
MIFTS: 26

Autosomal Dominant Nonsyndromic Deafness

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

Aliases & Classifications for Autosomal Dominant Nonsyndromic Deafness

MalaCards integrated aliases for Autosomal Dominant Nonsyndromic Deafness:

Name: Autosomal Dominant Nonsyndromic Deafness 12 15
Deafness, Autosomal Dominant 36
Autosomal Dominant Deafness 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050564
KEGG 36 H00604
ICD10 32 H90.3

Summaries for Autosomal Dominant Nonsyndromic Deafness

KEGG : 36 Hereditary deafness is divided into syndromic forms (in which hearing loss is associated with a variety of other anomalies) and non-syndromic forms. Non-syndromic forms are responsible for 70% of the cases of hereditary etiology and syndromic cases represent 30% of them. Among the forms of heritage, autosomal-recessive inheritance is the most frequent one (75%-85%), followed by autosomal-dominant inheritance (12-13%) and X-linked or mitochondrial, with 2-3% of the cases of non-syndromic hearing loss. Autosomal-dominant forms of deafness are usually post-lingual and progressive. Dominant mutations may be consistent with initial function and subsequent hearing loss owing to accumulation of pathology.

MalaCards based summary : Autosomal Dominant Nonsyndromic Deafness, also known as deafness, autosomal dominant, is related to deafness, autosomal dominant 9 and deafness, autosomal dominant 6. An important gene associated with Autosomal Dominant Nonsyndromic Deafness is DFNA16 (Deafness, Autosomal Dominant 16).

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

Related Diseases for Autosomal Dominant Nonsyndromic Deafness

Diseases in the Rare 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 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 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 Deafness, Autosomal Recessive 110
Deafness, Autosomal Dominant 74 Deafness, Autosomal Recessive 111
Deafness, Autosomal Recessive 112 Deafness, Autosomal Recessive 113
Deafness, Autosomal Recessive 100 Deafness, Autosomal Recessive 94
Deafness, Autosomal Recessive 114 Deafness, Autosomal Recessive 115
Deafness, Autosomal Recessive 99 Deafness, Autosomal Dominant 37
Deafness, Autosomal Dominant 75 Deafness, Autosomal Dominant 76
Deafness, Autosomal Dominant 77 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 32
Autosomal Recessive Nonsyndromic Deafness 36 Nonsyndromic Deafness
Otof-Related Deafness Familial Deafness

Diseases related to Autosomal Dominant Nonsyndromic Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 100)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 9 34.4 WFS1 KCNQ4 COCH
2 deafness, autosomal dominant 6 34.3 WFS1 TECTA KCNQ4 COCH
3 deafness, autosomal dominant 2a 34.2 KCNQ4 COCH
4 deafness, autosomal dominant 1 34.2 WFS1 TECTA
5 deafness, autosomal dominant 17 34.1 MYH9 KCNQ4
6 deafness, autosomal dominant 18 34.1 KCNQ4 DFNA18 COCH
7 deafness, autosomal dominant 12 34.1 TECTA COCH
8 deafness, autosomal dominant 44 34.1 TECTA KCNQ4 COCH
9 deafness, autosomal dominant 16 34.1 KCNQ4 DFNA16 COCH
10 deafness, autosomal dominant 13 34.1 TECTA KCNQ4 COCH
11 deafness, autosomal dominant 53 34.1 DFNA53 COCH
12 deafness, autosomal dominant 54 34.1 WFS1 DFNA54
13 deafness, autosomal dominant 43 34.1 DFNA43 COCH
14 deafness, autosomal dominant 31 34.1 TECTA DFNA31
15 deafness, autosomal dominant 21 34.1 TECTA DFNA21
16 deafness, autosomal dominant 49 34.1 TECTA DFNA49
17 deafness, autosomal dominant 2b 34.1 KCNQ4 COCH
18 deafness, autosomal dominant 28 34.0 KCNQ4 COCH
19 deafness, autosomal dominant 25 34.0 KCNQ4 COCH
20 deafness, autosomal dominant 15 34.0 KCNQ4 COCH
21 deafness, autosomal dominant 10 34.0 TECTA KCNQ4
22 deafness, autosomal dominant 20 33.9 KCNQ4 COCH
23 nonsyndromic deafness 31.8 WFS1 MYH9 KCNQ4
24 sensorineural hearing loss 31.5 WFS1 TECTA MYH9 KCNQ4 COCH
25 autosomal dominant non-syndromic sensorineural deafness type dfna 31.2 WFS1 TECTA MYH9 MIR96 KCNQ4 COCH
26 nonsyndromic hearing loss 31.2 WFS1 TECTA KCNQ4 COCH
27 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 12.5
28 deafness, autosomal dominant 73 12.5
29 deafness, autosomal dominant 74 12.5
30 deafness, autosomal dominant 71 12.5
31 deafness, autosomal dominant 72 12.5
32 deafness, autosomal dominant 34, with or without inflammation 12.5
33 deafness, autosomal dominant 37 12.5
34 deafness, autosomal dominant 75 12.5
35 deafness, autosomal dominant 76 12.5
36 autosomal dominant nonsyndromic deafness 71 12.4
37 autosomal dominant nonsyndromic deafness 72 12.4
38 autosomal dominant nonsyndromic deafness 73 12.4
39 autosomal dominant nonsyndromic deafness 34 12.4
40 deafness, autosomal dominant nonsyndromic sensorineural 17 12.2
41 deafness, autosomal dominant nonsyndromic sensorineural 22 12.2
42 deafness, autosomal dominant nonsyndromic sensorineural 53 12.2
43 deafness, autosomal dominant 77 12.2
44 autosomal dominant deafness-onychodystrophy syndrome 12.2
45 deafness, autosomal dominant nonsyndromic sensorineural 23 12.2
46 deafness, autosomal dominant nonsyndromic sensorineural 24 12.2
47 deafness, autosomal dominant 70 12.2
48 deafness, autosomal dominant 11 12.0
49 deafness, autosomal dominant 7 12.0
50 deafness, autosomal dominant 3a 12.0

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

Drugs & Therapeutics for Autosomal Dominant Nonsyndromic Deafness

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Epidemiology of Non-syndromic Dominant Deafness Completed NCT01150305
2 Positive Predictive Value of Machine Learning Tools (Audiogene v4.0) for Diagnosing DFNA9 in a Large Series of p.Pro51Ser Variant Carriers in COCH. Completed NCT04331015
3 Evaluation of Hearing and Vestibular Function in Presymptomatic and Symptomatic DFNA9 Patients Carrying the Pro51Ser (P51S) Mutation in the COCH Gene. Recruiting NCT03716908

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:

(show all 22)
# Title Authors PMID Year
1
Whole exome sequencing identifies SCD5 as a novel causative gene for autosomal dominant nonsyndromic deafness. 61
31972369 2020
2
Epigenetics-Based Tumor Cells Pyroptosis for Enhancing the Immunological Effect of Chemotherapeutic Nanocarriers. 61
31558023 2019
3
Determination of the Potential Tumor-Suppressive Effects of Gsdme in a Chemically Induced and in a Genetically Modified Intestinal Cancer Mouse Model. 61
31434357 2019
4
A microdeletion in the GRHL2 Gene in two unrelated patients with congenital fibrosis of the extra ocular muscles. 61
29110737 2017
5
WFS1 and GJB2 mutations in patients with bilateral low-frequency sensorineural hearing loss. 61
28271504 2017
6
Chemotherapy drugs induce pyroptosis through caspase-3 cleavage of a gasdermin. 61
28459430 2017
7
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. 61
28099493 2017
8
[Autosomal dominant hearing loss resulting from mutation in the GJB2 gene:nonsyndromic presentation in a Chinese family]. 61
29798269 2016
9
Screening of the SLC17A8 gene as a causative factor for autosomal dominant non-syndromic hearing loss in Koreans. 61
26797701 2016
10
A novel frameshift variant of COCH supports the hypothesis that haploinsufficiency is not a cause of autosomal dominant nonsyndromic deafness 9. 61
26631968 2016
11
TBC1D24-Related Disorders 61
25719194 2015
12
Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family. 61
26196677 2015
13
A novel mutation in the TECTA gene in a Chinese family with autosomal dominant nonsyndromic hearing loss. 61
24586623 2014
14
Methylation of the DFNA5 gene is frequently detected in colorectal cancer. 61
22493364 2012
15
Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4). 61
21368133 2011
16
Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China. 61
21150918 2011
17
Role of protein misfolding in DFNA9 hearing loss. 61
20228067 2010
18
[Analyzing GRIA3 gene mutations located in AUNX1 locus in a Chinese pedigree with auditory neuropathy]. 61
20564826 2010
19
Aberrant promoter methylation and tumor suppressive activity of the DFNA5 gene in colorectal carcinoma. 61
18223688 2008
20
A simple and effective approach for detecting maternal cell contamination in molecular prenatal diagnosis. 61
12001201 2002
21
Mapping of the alpha-tectorin gene (TECTA) to mouse chromosome 9 and human chromosome 11: a candidate for human autosomal dominant nonsyndromic deafness. 61
9503015 1998
22
Renal prognosis in Alport's and related syndromes: influence of the mode of inheritance. 61
2517321 1989

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

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

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 8.92 WFS1 TECTA KCNQ4 COCH

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

# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 8.8 WFS1 MYH9 KCNQ4

Sources for Autosomal Dominant Nonsyndromic Deafness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
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31 HPO
32 ICD10
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35 IUPHAR
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
71 UMLS
72 UMLS via Orphanet
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