MCID: ATS341
MIFTS: 30

Autosomal Dominant Nonsyndromic Deafness 20

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

Aliases & Classifications for Autosomal Dominant Nonsyndromic Deafness 20

MalaCards integrated aliases for Autosomal Dominant Nonsyndromic Deafness 20:

Name: Autosomal Dominant Nonsyndromic Deafness 20 12 14
Deafness, Autosomal Dominant 20 69
Autosomal Dominant Deafness 20 12
Dfna20 12
Dfna26 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110550
ICD10 33 H90.3

Summaries for Autosomal Dominant Nonsyndromic Deafness 20

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has material basis in mutation in the ACTG1 gene on chromosome 17q25.

MalaCards based summary : Autosomal Dominant Nonsyndromic Deafness 20, also known as deafness, autosomal dominant 20, is related to deafness, autosomal dominant 20/26 and dfna20/26 nonsyndromic hearing loss and deafness. An important gene associated with Autosomal Dominant Nonsyndromic Deafness 20 is ACTG1 (Actin Gamma 1), and among its related pathways/superpathways are Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases and Cytoskeletal Signaling. Related phenotypes are cellular and digestive/alimentary

Related Diseases for Autosomal Dominant Nonsyndromic Deafness 20

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 20 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
id Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 20/26 10.8
2 dfna20/26 nonsyndromic hearing loss and deafness 10.8
3 secretory diarrhea myopathy and deafness 10.5 SLC26A2 SLC26A3
4 deafness, autosomal recessive 23 10.4 USH1C USH1G
5 epiphyseal dysplasia, multiple, 4 10.4 SLC26A2 SLC26A3
6 amelogenesis imperfecta, type ig 10.4 USH1C USH1G
7 combined oxidative phosphorylation deficiency 28 10.4 DNM2 SLC26A2
8 x-linked nonsyndromic deafness 10.3 ACTG1 MYH14
9 atrioventricular septal defect 10.3 DNM2 SLC26A2
10 keratosis palmoplantaris striata ii 10.3 GSDME MYH14
11 deafness, autosomal recessive 12 10.2 USH1C USH1G
12 nodular lichen myxedematosus 10.1 ACTG1 GSDME MYH14
13 macrothrombocytopenia and progressive sensorineural deafness 9.8 GSDME MYH14
14 autosomal recessive nonsyndromic deafness 9.2 ACTG1 ESPN GSDME MYH14 USH1C USH1G
15 autosomal dominant nonsyndromic deafness 69 4.5 ACTG1 ARHGDIA CFL1 DNM2 ESPN FOXJ1

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



Diseases related to Autosomal Dominant Nonsyndromic Deafness 20

Symptoms & Phenotypes for Autosomal Dominant Nonsyndromic Deafness 20

MGI Mouse Phenotypes related to Autosomal Dominant Nonsyndromic Deafness 20:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.85 DNM2 FOXJ1 MYH14 SELL SLC26A1 SLC26A2
2 digestive/alimentary MP:0005381 9.5 ACTG1 DNM2 ESPN FOXJ1 SLC26A1 SLC26A3
3 nervous system MP:0003631 9.28 ACTG1 CFL1 DNM2 ESPN FOXJ1 GRIN2C

Drugs & Therapeutics for Autosomal Dominant Nonsyndromic Deafness 20

Interventional clinical trials:


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 20

Genetic Tests for Autosomal Dominant Nonsyndromic Deafness 20

Anatomical Context for Autosomal Dominant Nonsyndromic Deafness 20

Publications for Autosomal Dominant Nonsyndromic Deafness 20

Variations for Autosomal Dominant Nonsyndromic Deafness 20

ClinVar genetic disease variations for Autosomal Dominant Nonsyndromic Deafness 20:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ACTG1 NM_001614.3(ACTG1): c.266C> T (p.Thr89Ile) single nucleotide variant Pathogenic rs28999111 GRCh37 Chromosome 17, 79479026: 79479026
2 ACTG1 NM_001614.3(ACTG1): c.353A> T (p.Lys118Met) single nucleotide variant Pathogenic rs104894544 GRCh37 Chromosome 17, 79478939: 79478939
3 ACTG1 NM_001614.3(ACTG1): c.994C> G (p.Pro332Ala) single nucleotide variant Pathogenic rs104894545 GRCh37 Chromosome 17, 79477850: 79477850
4 ACTG1 NM_001614.3(ACTG1): c.791C> T (p.Pro264Leu) single nucleotide variant Pathogenic rs104894546 GRCh37 Chromosome 17, 79478225: 79478225
5 ACTG1 NM_001614.3(ACTG1): c.833C> T (p.Thr278Ile) single nucleotide variant Pathogenic rs28999112 GRCh37 Chromosome 17, 79478104: 79478104
6 ACTG1 NM_001614.3(ACTG1): c.1109T> C (p.Val370Ala) single nucleotide variant Pathogenic rs104894547 GRCh37 Chromosome 17, 79477735: 79477735
7 ACTG1 NM_001614.3(ACTG1): c.354G> C (p.Lys118Asn) single nucleotide variant Pathogenic rs267606630 GRCh37 Chromosome 17, 79478938: 79478938
8 ACTG1 NM_001614.3(ACTG1): c.721G> A (p.Glu241Lys) single nucleotide variant Pathogenic/Likely pathogenic rs267606631 GRCh37 Chromosome 17, 79478295: 79478295

Expression for Autosomal Dominant Nonsyndromic Deafness 20

Search GEO for disease gene expression data for Autosomal Dominant Nonsyndromic Deafness 20.

Pathways for Autosomal Dominant Nonsyndromic Deafness 20

GO Terms for Autosomal Dominant Nonsyndromic Deafness 20

Cellular components related to Autosomal Dominant Nonsyndromic Deafness 20 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.95 GRIN2C SELL SLC26A1 SLC26A11 SLC26A2 SLC26A3
2 cytoskeleton GO:0005856 9.87 ACTG1 ARHGDIA CFL1 DNM2 ESPN USH1C
3 focal adhesion GO:0005925 9.73 ACTG1 CFL1 DNM2 P4HB
4 actin cytoskeleton GO:0015629 9.67 ACTG1 CFL1 ESPN USH1G
5 plasma membrane GO:0005886 9.44 ACTG1 CFL1 DNM2 GRIN2C P4HB SELL
6 brush border GO:0005903 9.33 ESPN MYH14 USH1C
7 photoreceptor inner segment GO:0001917 9.13 DNM2 USH1C USH1G
8 membrane GO:0016020 10.1 ACTG1 ARHGDIA CFL1 DNM2 GRIN2C MYH14

Biological processes related to Autosomal Dominant Nonsyndromic Deafness 20 according to GeneCards Suite gene sharing:

(show all 19)
id Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.96 SLC26A1 SLC26A11 SLC26A2 SLC26A3 SLC26A8
2 ion transport GO:0006811 9.95 GRIN2C SLC26A1 SLC26A11 SLC26A2 SLC26A3 SLC26A8
3 chloride transmembrane transport GO:1902476 9.8 SLC26A1 SLC26A11 SLC26A2 SLC26A3 SLC26A8
4 bicarbonate transport GO:0015701 9.77 SLC26A1 SLC26A11 SLC26A2 SLC26A3 SLC26A8
5 sensory perception of sound GO:0007605 9.73 ESPN MYH14 USH1C USH1G
6 regulation of membrane potential GO:0042391 9.73 GRIN2C SLC26A1 SLC26A11 SLC26A2 SLC26A3 SLC26A8
7 chloride transport GO:0006821 9.72 SLC26A1 SLC26A3 SLC26A8
8 regulation of intracellular pH GO:0051453 9.72 SLC26A1 SLC26A11 SLC26A2 SLC26A3 SLC26A8
9 anion transport GO:0006820 9.58 SLC26A3 SLC26A8
10 inner ear receptor stereocilium organization GO:0060122 9.58 USH1C USH1G
11 sperm capacitation GO:0048240 9.57 SLC26A3 SLC26A8
12 sulfate transport GO:0008272 9.55 SLC26A1 SLC26A11 SLC26A2 SLC26A3 SLC26A8
13 sensory perception of light stimulus GO:0050953 9.54 USH1C USH1G
14 equilibrioception GO:0050957 9.51 USH1C USH1G
15 3-phosphoadenosine 5-phosphosulfate biosynthetic process GO:0050428 9.49 SLC26A1 SLC26A2
16 parallel actin filament bundle assembly GO:0030046 9.46 ESPN USH1C
17 sulfate transmembrane transport GO:1902358 9.35 SLC26A1 SLC26A11 SLC26A2 SLC26A3 SLC26A8
18 inner ear receptor cell differentiation GO:0060113 9.22 USH1G
19 oxalate transport GO:0019532 9.02 SLC26A1 SLC26A11 SLC26A2 SLC26A3 SLC26A8

Molecular functions related to Autosomal Dominant Nonsyndromic Deafness 20 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 chloride channel activity GO:0005254 9.77 SLC26A1 SLC26A11 SLC26A2 SLC26A3 SLC26A8
2 anion:anion antiporter activity GO:0015301 9.72 SLC26A1 SLC26A11 SLC26A2 SLC26A3 SLC26A8
3 actin filament binding GO:0051015 9.71 CFL1 ESPN MYH14 USH1C
4 bicarbonate transmembrane transporter activity GO:0015106 9.65 SLC26A1 SLC26A11 SLC26A2 SLC26A3 SLC26A8
5 sulfate transmembrane transporter activity GO:0015116 9.55 SLC26A1 SLC26A11 SLC26A2 SLC26A3 SLC26A8
6 spectrin binding GO:0030507 9.48 USH1C USH1G
7 anion transmembrane transporter activity GO:0008509 9.46 SLC26A11 SLC26A8
8 chloride transmembrane transporter activity GO:0015108 9.43 SLC26A1 SLC26A3
9 secondary active sulfate transmembrane transporter activity GO:0008271 9.35 SLC26A1 SLC26A11 SLC26A2 SLC26A3 SLC26A8
10 oxalate transmembrane transporter activity GO:0019531 9.02 SLC26A1 SLC26A11 SLC26A2 SLC26A3 SLC26A8

Sources for Autosomal Dominant Nonsyndromic Deafness 20

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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