MCID: DFN107
MIFTS: 41

Deafness, Autosomal Dominant 10

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

Aliases & Classifications for Deafness, Autosomal Dominant 10

MalaCards integrated aliases for Deafness, Autosomal Dominant 10:

Name: Deafness, Autosomal Dominant 10 54 29 13 69
Autosomal Dominant Nonsyndromic Deafness 10 12 14
Dfna10 12 71
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 10 71
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 10 71
Deafness, Autosomal Dominant, 10 71
Autosomal Dominant Deafness 10 12

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
deafness, autosomal dominant 10:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 601316
Disease Ontology 12 DOID:0110542
ICD10 33 H90.3
MedGen 40 C1832476
MeSH 42 D006319
SNOMED-CT via HPO 65 263681008 60700002

Summaries for Deafness, Autosomal Dominant 10

UniProtKB/Swiss-Prot : 71 Deafness, autosomal dominant, 10: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

MalaCards based summary : Deafness, Autosomal Dominant 10, also known as autosomal dominant nonsyndromic deafness 10, is related to dfna10 nonsyndromic hearing loss and deafness and combined pituitary hormone deficiency, and has symptoms including sensorineural hearing impairment An important gene associated with Deafness, Autosomal Dominant 10 is EYA4 (EYA Transcriptional Coactivator And Phosphatase 4), and among its related pathways/superpathways are Transcriptional misregulation in cancer and ID signaling pathway. Affiliated tissues include brain, and related phenotypes are craniofacial and cardiovascular system

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the third or forth decade of life with a flat or gently downsloping audioprofiles and has material basis in mutation in the EYA4 gene on chromosome 6q23.

Description from OMIM: 601316

Related Diseases for Deafness, Autosomal Dominant 10

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 Deafness, Autosomal Dominant 10 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
id Related Disease Score Top Affiliating Genes
1 dfna10 nonsyndromic hearing loss and deafness 11.8
2 combined pituitary hormone deficiency 10.6 EYA1 SIX1
3 branchiootic syndrome 1 10.6 EYA1 SIX1
4 retinitis pigmentosa 63 10.6 EYA4 TCF21
5 optic disc anomalies with retinal and/or macular dystrophy 10.6 EYA1 SIX1
6 fundus albipunctatus 10.5 EYA1 MYH14
7 catsper-related male infertility 10.4 EYA1 SIX5
8 auriculocondylar syndrome 3 10.3 EYA1 SIX5
9 autosomal dominant nonsyndromic deafness 6 10.3 CCDC50 COL11A2 EYA4
10 celiac disease 11 10.3 CCDC50 COL11A2 EYA4
11 deafness, autosomal recessive 53 10.2 CCDC50 COL11A2 EYA4
12 x-linked nonsyndromic deafness 10.2 COL11A2 EYA4 MYH14
13 holoprosencephaly 2 10.2 SIX1 SIX3
14 renal tubular acidosis, proximal, with ocular abnormalities 10.2 EYA1 SIX5
15 amenorrhea 10.1 EYA1 SIX1 SIX5
16 congenital muscular dystrophy due to lmna mutation 10.1 COL11A2 MYH14
17 xanthinuria 10.1 EYA1 SIX1 SIX5
18 autosomal recessive nonsyndromic deafness 10.0 COL11A2 EYA4 MYH14
19 spinocerebellar ataxia, autosomal recessive 17 10.0 EYA1 PAX2
20 ectodermal dysplasia/short stature syndrome 10.0 EYA4 GRHL2 SIX3
21 ovarian stromal hyperthecosis 9.9 PAX2 PAX8
22 prion disease 9.8 PAX2 PAX8
23 biliary tract neoplasm 9.8 PAX2 PAX8
24 adult endodermal sinus tumor 9.8 PAX2 PAX8
25 renal tubular dysgenesis, ren-related 9.8 EYA1 PAX2 SIX1
26 thymic dysplasia 9.8 PAX2 PAX8
27 gallbladder papillomatosis 9.7 PAX2 PAX8
28 urethral villous adenoma 9.7 PAX2 PAX8
29 spastic ataxia 3 9.7 PAX2 PAX8
30 postpoliomyelitis syndrome 9.6 PAX2 PAX8
31 perivascular epithelioid cell tumor 9.5 PAX2 PAX8
32 nodular tenosynovitis 9.4 PAX2 PAX8
33 autosomal dominant microcephaly 9.3 EYA1 PAX2 SIX1 SIX5
34 cataract 30, pulverulent 9.3 EYA1 PAX2 SIX1 SIX5
35 nodular lichen myxedematosus 9.2 CCDC50 COL11A2 EYA4 GRHL2 MYH14 SIX1
36 central nervous system vasculitis 9.2 PAX2 PAX8
37 cardiomyopathy, dilated, 1j 5.7 CCDC50 COL11A2 DACH1 EYA1 EYA4 GRHL2

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 10:



Diseases related to Deafness, Autosomal Dominant 10

Symptoms & Phenotypes for Deafness, Autosomal Dominant 10

Symptoms via clinical synopsis from OMIM:

54

Ears:
progressive nonsyndromic sensorineural deafness

Misc:
onset second to fifth decade


Clinical features from OMIM:

601316

Human phenotypes related to Deafness, Autosomal Dominant 10:

32
id Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 10:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.06 COL11A2 EYA1 EYA4 GRHL2 PAX8 SIX1
2 cardiovascular system MP:0005385 10.02 PAX8 SIX1 TCF21 EYA1 GRHL2 MYH14
3 mortality/aging MP:0010768 10.02 EYA1 EYA4 GRHL2 MYH14 PAX2 PAX8
4 endocrine/exocrine gland MP:0005379 9.95 DACH1 EYA1 PAX2 PAX8 SIX1 SIX5
5 embryo MP:0005380 9.91 EYA1 GRHL2 PAX2 PAX8 SIX1 SIX3
6 nervous system MP:0003631 9.86 DACH1 EYA1 GRHL2 MYH14 PAX2 PAX8
7 hearing/vestibular/ear MP:0005377 9.85 SIX1 COL11A2 EYA1 EYA4 PAX2 PAX8
8 reproductive system MP:0005389 9.7 EYA1 EYA4 GRHL2 PAX2 PAX8 SIX5
9 respiratory system MP:0005388 9.5 DACH1 EYA1 GRHL2 MYH14 SIX1 SIX3
10 vision/eye MP:0005391 9.17 EYA1 GRHL2 PAX2 PAX8 SIX1 SIX3

Drugs & Therapeutics for Deafness, Autosomal Dominant 10

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Epidemiology of Non-syndromic Dominant Deafness Completed NCT01150305
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Deafness, Autosomal Dominant 10

Genetic Tests for Deafness, Autosomal Dominant 10

Genetic tests related to Deafness, Autosomal Dominant 10:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 10 29

Anatomical Context for Deafness, Autosomal Dominant 10

MalaCards organs/tissues related to Deafness, Autosomal Dominant 10:

39
Brain

Publications for Deafness, Autosomal Dominant 10

Variations for Deafness, Autosomal Dominant 10

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 10:

71
id Symbol AA change Variation ID SNP ID
1 EYA4 p.Gly171Arg VAR_074570
2 EYA4 p.Thr548Arg VAR_074571

ClinVar genetic disease variations for Deafness, Autosomal Dominant 10:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 EYA4 EYA4, 2-BP INS, 1468AA insertion Pathogenic
2 EYA4 EYA4, 2200C-T single nucleotide variant Pathogenic
3 EYA4 EYA4, 2-BP INS, 1490AA insertion Pathogenic
4 EYA4 EYA4, IVS14, 1282-12T-A single nucleotide variant Pathogenic
5 EYA4 NM_004100.4(EYA4): c.1739-1G> A single nucleotide variant Likely pathogenic rs797045088 GRCh37 Chromosome 6, 133846291: 133846291
6 EYA4 NM_172105.3(EYA4): c.441delC (p.Tyr148Ilefs) deletion Pathogenic rs878853223 GRCh37 Chromosome 6, 133783476: 133783476

Expression for Deafness, Autosomal Dominant 10

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 10.

Pathways for Deafness, Autosomal Dominant 10

Pathways related to Deafness, Autosomal Dominant 10 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.39 EYA1 PAX8 SIX1
2 9.83 PAX2 PAX8

GO Terms for Deafness, Autosomal Dominant 10

Cellular components related to Deafness, Autosomal Dominant 10 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.65 DACH1 EYA1 EYA4 GRHL2 PAX2 PAX8
2 protein-DNA complex GO:0032993 8.62 EYA1 PAX2

Biological processes related to Deafness, Autosomal Dominant 10 according to GeneCards Suite gene sharing:

(show top 50) (show all 53)
id Name GO ID Score Top Affiliating Genes
1 transcription from RNA polymerase II promoter GO:0006366 9.97 GRHL2 PAX2 PAX8 SIX1 SIX3 TCF21
2 multicellular organism development GO:0007275 9.97 DACH1 EYA1 EYA4 PAX2 PAX8 SIX1
3 visual perception GO:0007601 9.88 EYA4 PAX2 SIX3
4 anatomical structure morphogenesis GO:0009653 9.87 EYA1 EYA4 PAX8
5 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.86 EYA1 GRHL2 PAX2 PAX8 SIX1 SIX3
6 kidney development GO:0001822 9.84 PAX8 SIX1 TCF21
7 camera-type eye development GO:0043010 9.82 GRHL2 PAX2 SIX3
8 ureteric bud development GO:0001657 9.75 EYA1 SIX1 TCF21
9 skeletal system morphogenesis GO:0048705 9.71 COL11A2 SIX1
10 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.71 EYA1 EYA4
11 lens development in camera-type eye GO:0002088 9.71 SIX3 SIX5
12 inner ear morphogenesis GO:0042472 9.71 EYA1 PAX2 PAX8 SIX1
13 embryonic cranial skeleton morphogenesis GO:0048701 9.7 GRHL2 SIX1
14 metanephros development GO:0001656 9.7 EYA1 PAX8
15 positive regulation of DNA repair GO:0045739 9.7 EYA1 EYA4
16 thyroid gland development GO:0030878 9.7 PAX8 SIX1
17 regulation of neuron differentiation GO:0045664 9.69 EYA1 SIX1
18 middle ear morphogenesis GO:0042474 9.69 EYA1 SIX1
19 pharyngeal system development GO:0060037 9.68 EYA1 SIX1
20 neuron fate specification GO:0048665 9.68 EYA1 SIX1
21 anatomical structure development GO:0048856 9.68 EYA1 SIX1
22 urogenital system development GO:0001655 9.68 PAX2 PAX8
23 aorta morphogenesis GO:0035909 9.67 EYA1 SIX1
24 animal organ development GO:0048513 9.67 PAX2 SIX1
25 mesonephros development GO:0001823 9.66 PAX2 PAX8
26 lung epithelial cell differentiation GO:0060487 9.65 EYA1 GRHL2
27 metanephric mesenchyme development GO:0072075 9.65 PAX2 SIX1
28 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.65 PAX2 PAX8
29 cochlea morphogenesis GO:0090103 9.65 EYA1 PAX2 SIX1
30 histone dephosphorylation GO:0016576 9.64 EYA1 EYA4
31 pronephros development GO:0048793 9.63 PAX2 PAX8
32 mesodermal cell fate specification GO:0007501 9.63 EYA1 PAX2
33 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.63 PAX2 PAX8 SIX1
34 regulation of metanephric nephron tubule epithelial cell differentiation GO:0072307 9.62 PAX2 PAX8
35 metanephric mesenchymal cell differentiation GO:0072162 9.62 PAX2 TCF21
36 metanephric epithelium development GO:0072207 9.61 PAX2 PAX8
37 positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0072108 9.61 PAX2 PAX8
38 positive regulation of secondary heart field cardioblast proliferation GO:0072513 9.6 EYA1 SIX1
39 metanephric nephron tubule formation GO:0072289 9.59 PAX2 PAX8
40 metanephric distal convoluted tubule development GO:0072221 9.58 PAX2 PAX8
41 negative regulation of mesenchymal cell apoptotic process involved in metanephros development GO:1900212 9.57 PAX2 PAX8
42 negative regulation of apoptotic process involved in metanephric nephron tubule development GO:1900218 9.56 PAX2 PAX8
43 positive regulation of metanephric DCT cell differentiation GO:2000594 9.55 PAX2 PAX8
44 negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis GO:0072305 9.54 PAX2 PAX8
45 negative regulation of apoptotic process involved in metanephric collecting duct development GO:1900215 9.52 PAX2 PAX8
46 pronephric field specification GO:0039003 9.51 PAX2 PAX8
47 sensory perception of sound GO:0007605 9.43 CCDC50 COL11A2 EYA1 EYA4 MYH14 SIX1
48 otic vesicle development GO:0071599 9.33 EYA1 PAX8 SIX1
49 branching involved in ureteric bud morphogenesis GO:0001658 9.02 EYA1 PAX2 PAX8 SIX1 TCF21
50 regulation of transcription, DNA-templated GO:0006355 10.13 DACH1 EYA1 EYA4 GRHL2 PAX2 PAX8

Molecular functions related to Deafness, Autosomal Dominant 10 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 9.55 DACH1 GRHL2 PAX8 SIX1 SIX3
2 transcription regulatory region DNA binding GO:0044212 9.43 PAX2 PAX8 SIX1
3 sequence-specific DNA binding GO:0043565 9.35 GRHL2 PAX8 SIX1 SIX3 SIX5
4 DNA binding GO:0003677 9.23 DACH1 GRHL2 PAX2 PAX8 SIX1 SIX3

Sources for Deafness, Autosomal Dominant 10

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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