MCID: ATS005
MIFTS: 24

Autosomal Dominant Nonsyndromic Deafness

Categories: 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 6 and deafness, autosomal dominant 2a. 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 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
Deafness, Autosomal Dominant 78 Deafness, Autosomal Dominant 79
Deafness, Autosomal Recessive 116 Deafness, Autosomal Recessive 117
Deafness, Autosomal Dominant 80 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 Autosomal Dominant Nonsyndromic Deafness 78
Autosomal Dominant Nonsyndromic Deafness 79 Autosomal Recessive Nonsyndromic Deafness 116
Autosomal Dominant Nonsyndromic Deafness 74 Autosomal Dominant Nonsyndromic Deafness 75
Autosomal Dominant Nonsyndromic Deafness 76 Autosomal Dominant Nonsyndromic Deafness 77
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 109)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 6 33.4 WFS1 TECTA KCNQ4
2 deafness, autosomal dominant 2a 33.3 KCNQ4 COCH
3 deafness, autosomal dominant 9 33.2 WFS1 MYO6 KCNQ4 COCH
4 deafness, autosomal dominant 17 33.2 MYO6 KCNQ4
5 deafness, autosomal dominant 16 33.2 MYO6 KCNQ4 DFNA16 COCH
6 deafness, autosomal dominant 18 33.2 MYO6 KCNQ4 DFNA18
7 deafness, autosomal dominant 43 33.2 MYO6 DFNA43 COCH
8 deafness, autosomal dominant 10 33.2 TECTA MYO6 KCNQ4
9 deafness, autosomal dominant 24 33.2 DFNA24 COCH
10 deafness, autosomal dominant 54 33.2 WFS1 DFNA54
11 deafness, autosomal dominant 31 33.2 TECTA DFNA31
12 deafness, autosomal dominant 21 33.2 TECTA DFNA21
13 deafness, autosomal dominant 49 33.2 TECTA DFNA49
14 deafness, autosomal dominant 2b 33.1 KCNQ4 COCH
15 deafness, autosomal dominant 44 33.1 TECTA KCNQ4
16 deafness, autosomal dominant 28 33.1 KCNQ4 COCH
17 deafness, autosomal dominant 13 33.1 TECTA KCNQ4
18 deafness, autosomal dominant 15 33.1 MYO6 KCNQ4
19 deafness, autosomal dominant 7 33.1 TECTA MYO6
20 deafness, autosomal dominant 1, with or without thrombocytopenia 33.0 WFS1 TECTA
21 deafness, autosomal dominant 12 33.0 TECTA KCNQ4
22 nonsyndromic deafness 31.5 TECTA KCNQ4
23 sensorineural hearing loss 31.2 WFS1 TECTA MYO6 KCNQ4 COCH
24 nonsyndromic hearing loss 30.9 WFS1 TECTA MYO6 KCNQ4 COCH
25 autosomal dominant non-syndromic sensorineural deafness type dfna 30.9 WFS1 TECTA MYO6 KCNQ4 COCH
26 non-syndromic genetic deafness 30.7 TECTA MYO6 KCNQ4 COCH
27 rare genetic deafness 30.7 WFS1 TECTA MYO6 KCNQ4 COCH
28 deafness, autosomal dominant 22 11.6
29 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 11.6
30 deafness, autosomal dominant 70 11.6
31 deafness, autosomal dominant 4a 11.6
32 deafness, autosomal dominant 11 11.6
33 deafness, autosomal dominant 3a 11.6
34 deafness, autosomal dominant 20 11.6
35 deafness, autosomal dominant 23 11.6
36 deafness, autosomal dominant 25 11.6
37 deafness, autosomal dominant 30 11.6
38 deafness, autosomal dominant 36 11.6
39 deafness, autosomal dominant 52 11.6
40 deafness, autosomal dominant 48 11.6
41 deafness, autosomal dominant 41 11.6
42 deafness, autosomal dominant 47 11.6
43 deafness, autosomal dominant 53 11.6
44 deafness, autosomal dominant 27 11.6
45 deafness, autosomal dominant 3b 11.6
46 deafness, autosomal dominant 50 11.6
47 deafness, autosomal dominant 51 11.6
48 deafness, autosomal dominant 64 11.6
49 deafness, autosomal dominant 33 11.6
50 deafness, autosomal dominant 4b 11.6

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

Search Clinical Trials , 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 26)
# Title Authors PMID Year
1
On the pathophysiology of DFNA9: Effect of pathogenic variants in the COCH gene on inner ear functioning in human and transgenic mice. 61
33421658 2021
2
A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss. 61
32711451 2020
3
Whole exome sequencing identifies SCD5 as a novel causative gene for autosomal dominant nonsyndromic deafness. 61
31972369 2020
4
Case Report: Novel Heterozygous DFNA5 Splicing Variant Responsible for Autosomal Dominant Non-syndromic Hearing Loss in a Chinese Family. 61
33110423 2020
5
Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic Hearing Loss. 61
32684921 2020
6
Epigenetics-Based Tumor Cells Pyroptosis for Enhancing the Immunological Effect of Chemotherapeutic Nanocarriers. 61
31558023 2019
7
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
8
A microdeletion in the GRHL2 Gene in two unrelated patients with congenital fibrosis of the extra ocular muscles. 61
29110737 2017
9
WFS1 and GJB2 mutations in patients with bilateral low-frequency sensorineural hearing loss. 61
28271504 2017
10
Chemotherapy drugs induce pyroptosis through caspase-3 cleavage of a gasdermin. 61
28459430 2017
11
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
12
[Autosomal dominant hearing loss resulting from mutation in the GJB2 gene:nonsyndromic presentation in a Chinese family]. 61
29798269 2016
13
A novel frameshift variant of COCH supports the hypothesis that haploinsufficiency is not a cause of autosomal dominant nonsyndromic deafness 9. 61
26631968 2016
14
Screening of the SLC17A8 gene as a causative factor for autosomal dominant non-syndromic hearing loss in Koreans. 61
26797701 2016
15
TBC1D24-Related Disorders 61
25719194 2015
16
Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family. 61
26196677 2015
17
A novel mutation in the TECTA gene in a Chinese family with autosomal dominant nonsyndromic hearing loss. 61
24586623 2014
18
Methylation of the DFNA5 gene is frequently detected in colorectal cancer. 61
22493364 2012
19
Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4). 61
21368133 2011
20
Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China. 61
21150918 2011
21
Role of protein misfolding in DFNA9 hearing loss. 61
20228067 2010
22
[Analyzing GRIA3 gene mutations located in AUNX1 locus in a Chinese pedigree with auditory neuropathy]. 61
20564826 2010
23
Aberrant promoter methylation and tumor suppressive activity of the DFNA5 gene in colorectal carcinoma. 61
18223688 2008
24
A simple and effective approach for detecting maternal cell contamination in molecular prenatal diagnosis. 61
12001201 2002
25
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
26
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 9.02 WFS1 TECTA MYO6 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 MYO6 KCNQ4

Sources for Autosomal Dominant Nonsyndromic Deafness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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