MCID: DFN107
MIFTS: 43

Deafness, Autosomal Dominant 10

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

Aliases & Classifications for Deafness, Autosomal Dominant 10

MalaCards integrated aliases for Deafness, Autosomal Dominant 10:

Name: Deafness, Autosomal Dominant 10 53 28 13 69
Dfna10 53 12 71
Autosomal Dominant Nonsyndromic Deafness 10 12 14
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:

53
Inheritance:
autosomal dominant


HPO:

31
deafness, autosomal dominant 10:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 601316
Disease Ontology 12 DOID:0110542
ICD10 32 H90.3
MedGen 39 C1832476
MeSH 41 D006319
SNOMED-CT via HPO 65 263681008 60700002
UMLS 69 C1832476

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 dfna10, is related to branchiootorenal/branchiootic syndrome and cardiomyopathy, dilated, 1j, 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 Wnt / Hedgehog / Notch and Transcriptional misregulation in cancer. Affiliated tissues include brain, and related phenotypes are craniofacial and mortality/aging

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 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 32 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 Recessive 105 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 Nonsyndromic Deafness
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 3 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86

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

(show all 38)
# Related Disease Score Top Affiliating Genes
1 branchiootorenal/branchiootic syndrome 30.5 EYA1 SIX1
2 cardiomyopathy, dilated, 1j 10.4 EYA4 TCF21
3 branchiootorenal syndrome 1 10.4 EYA1 SIX1
4 deafness, autosomal dominant 23 10.4 EYA1 SIX1
5 deafness, autosomal dominant 48 10.4 EYA1 MYH14
6 branchiooculofacial syndrome 10.3 EYA1 SIX5
7 deafness, autosomal dominant 12 10.2 CCDC50 COL11A2 EYA4
8 deafness, autosomal dominant 44 10.2 CCDC50 COL11A2 EYA4
9 holoprosencephaly 2 10.2 SIX1 SIX3
10 deafness, autosomal dominant 13 10.2 CCDC50 COL11A2 EYA4
11 fraser syndrome 1 10.2 EYA1 SIX5
12 papillorenal syndrome 10.1 EYA1 PAX2
13 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
14 lacrimal duct obstruction 10.1 EYA1 SIX1 SIX5
15 branchiootic syndrome 10.1 EYA1 SIX1 SIX5
16 deafness, autosomal dominant 6 10.1 COL11A2 MYH14
17 deafness, autosomal dominant 28 10.0 EYA4 GRHL2 SIX3
18 nephrogenic adenoma of urinary bladder 10.0 PAX2 PAX8
19 rete testis adenoma 10.0 PAX2 PAX8
20 childhood endodermal sinus tumor 10.0 PAX2 PAX8
21 bladder benign neoplasm 10.0 PAX2 PAX8
22 nephrogenic adenoma 10.0 PAX2 PAX8
23 kidney benign neoplasm 9.9 PAX2 PAX8
24 rete testis neoplasm 9.9 PAX2 PAX8
25 endocervical adenocarcinoma 9.9 PAX2 PAX8
26 branchiootic syndrome 1 9.9
27 adenocarcinoma in situ 9.9 PAX2 PAX8
28 nephrogenic adenofibroma 9.8 PAX2 PAX8
29 miles-carpenter syndrome 9.8 DACH1 PAX3
30 retinal hemangioblastoma 9.8 PAX2 PAX8
31 childhood kidney cell carcinoma 9.7 PAX2 PAX3
32 wilms tumor 5 9.7 PAX2 PAX8
33 branchiootorenal syndrome 9.6 EYA1 PAX2 SIX1 SIX5
34 renal hypodysplasia/aplasia 1 9.6 EYA1 PAX2 SIX1 SIX5
35 nonsyndromic deafness 9.6 COL11A2 EYA4 MYH14 PAX3
36 autosomal dominant nonsyndromic deafness 9.5 CCDC50 COL11A2 EYA1 EYA4 GRHL2 MYH14
37 ovarian brenner tumor 9.5 PAX2 PAX8
38 autosomal dominant non-syndromic sensorineural deafness type dfna 9.5 CCDC50 COL11A2 EYA4 GRHL2 MYH14 SIX1

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:

53
Ears:
progressive nonsyndromic sensorineural deafness

Misc:
onset second to fifth decade


Clinical features from OMIM:

601316

Human phenotypes related to Deafness, Autosomal Dominant 10:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 10:

43 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.19 COL11A2 EYA1 EYA4 GRHL2 PAX3 PAX8
2 mortality/aging MP:0010768 10.17 DACH1 EYA1 EYA4 GRHL2 MYH14 PAX2
3 cardiovascular system MP:0005385 10.15 EYA1 GRHL2 MYH14 PAX2 PAX3 PAX8
4 endocrine/exocrine gland MP:0005379 10.15 PAX8 SIX1 SIX5 TCF21 DACH1 EYA1
5 growth/size/body region MP:0005378 10.13 COL11A2 EYA1 EYA4 PAX3 PAX8 SIX1
6 embryo MP:0005380 10.11 EYA1 EYA4 GRHL2 PAX2 PAX3 PAX8
7 nervous system MP:0003631 10.02 DACH1 EYA1 GRHL2 MYH14 PAX2 PAX3
8 digestive/alimentary MP:0005381 10 EYA4 PAX3 SIX1 SIX3 TCF21 EYA1
9 hearing/vestibular/ear MP:0005377 10 COL11A2 EYA1 EYA4 PAX2 PAX3 PAX8
10 muscle MP:0005369 9.88 EYA1 MYH14 PAX3 SIX1 SIX5 TCF21
11 renal/urinary system MP:0005367 9.8 EYA1 PAX2 PAX3 PAX8 SIX1 TCF21
12 reproductive system MP:0005389 9.8 EYA1 EYA4 GRHL2 PAX2 PAX8 SIX5
13 respiratory system MP:0005388 9.76 DACH1 EYA1 GRHL2 MYH14 PAX3 SIX1
14 skeleton MP:0005390 9.5 COL11A2 EYA1 GRHL2 PAX3 PAX8 SIX1
15 vision/eye MP:0005391 9.23 EYA1 GRHL2 PAX2 PAX3 PAX8 SIX1

Drugs & Therapeutics for Deafness, Autosomal Dominant 10

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 10

Genetic Tests for Deafness, Autosomal Dominant 10

Genetic tests related to Deafness, Autosomal Dominant 10:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 10 28 EYA4

Anatomical Context for Deafness, Autosomal Dominant 10

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

38
Brain

Publications for Deafness, Autosomal Dominant 10

Articles related to Deafness, Autosomal Dominant 10:

# Title Authors Year
1
Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment. ( 26331839 )
2016
2
Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4: evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain. ( 17567890 )
2007
3
A novel splice site mutation in EYA4 causes DFNA10 hearing loss. ( 17568404 )
2007
4
A comparative study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal syndrome and DFNA10. ( 15492887 )
2004
5
A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10. ( 12477971 )
2002
6
Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus. ( 11159937 )
2001
7
A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6. ( 8776603 )
1996

Variations for Deafness, Autosomal Dominant 10

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

71
# 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
# 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 GRCh38 Chromosome 6, 133462338: 133462338

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:

# Super pathways Score Top Affiliating Genes
1 11.59 PAX2 PAX3 SIX1
2 11.19 EYA1 PAX3 PAX8 SIX1
3 10.16 PAX2 PAX8

GO Terms for Deafness, Autosomal Dominant 10

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.36 DACH1 EYA1 EYA4 GRHL2 PAX2 PAX3

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

(show top 50) (show all 53)
# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase II GO:0006366 9.98 GRHL2 PAX2 PAX3 PAX8 SIX1 SIX3
2 multicellular organism development GO:0007275 9.91 DACH1 EYA1 EYA4 PAX2 PAX3 PAX8
3 visual perception GO:0007601 9.89 EYA4 PAX2 SIX3
4 anatomical structure morphogenesis GO:0009653 9.87 EYA1 EYA4 PAX8
5 animal organ morphogenesis GO:0009887 9.86 EYA1 PAX3 TCF21
6 kidney development GO:0001822 9.84 PAX8 SIX1 TCF21
7 camera-type eye development GO:0043010 9.83 GRHL2 PAX2 SIX3
8 positive regulation of transcription by RNA polymerase II GO:0045944 9.81 EYA1 GRHL2 PAX2 PAX3 PAX8 SIX1
9 ureteric bud development GO:0001657 9.76 EYA1 SIX1 TCF21
10 inner ear morphogenesis GO:0042472 9.76 EYA1 PAX2 PAX8 SIX1
11 lens development in camera-type eye GO:0002088 9.71 SIX3 SIX5
12 embryonic cranial skeleton morphogenesis GO:0048701 9.71 GRHL2 SIX1
13 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.71 EYA1 EYA4
14 metanephros development GO:0001656 9.7 EYA1 PAX8
15 positive regulation of DNA repair GO:0045739 9.7 EYA1 EYA4
16 regulation of neuron differentiation GO:0045664 9.7 EYA1 SIX1
17 thyroid gland development GO:0030878 9.7 PAX8 SIX1
18 middle ear morphogenesis GO:0042474 9.69 EYA1 SIX1
19 pharyngeal system development GO:0060037 9.69 EYA1 SIX1
20 neuron fate specification GO:0048665 9.68 EYA1 SIX1
21 anatomical structure development GO:0048856 9.68 EYA1 SIX1
22 aorta morphogenesis GO:0035909 9.68 EYA1 SIX1
23 urogenital system development GO:0001655 9.67 PAX2 PAX8
24 animal organ development GO:0048513 9.67 PAX2 SIX1
25 cochlea morphogenesis GO:0090103 9.67 EYA1 PAX2 SIX1
26 mesonephros development GO:0001823 9.66 PAX2 PAX8
27 lung epithelial cell differentiation GO:0060487 9.66 EYA1 GRHL2
28 metanephric mesenchyme development GO:0072075 9.65 PAX2 SIX1
29 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.65 PAX2 PAX8
30 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.65 PAX2 PAX8 SIX1
31 histone dephosphorylation GO:0016576 9.64 EYA1 EYA4
32 regulation of metanephric nephron tubule epithelial cell differentiation GO:0072307 9.64 PAX2 PAX8
33 pronephros development GO:0048793 9.63 PAX2 PAX8
34 mesodermal cell fate specification GO:0007501 9.63 EYA1 PAX2
35 metanephric mesenchymal cell differentiation GO:0072162 9.62 PAX2 TCF21
36 metanephric epithelium development GO:0072207 9.62 PAX2 PAX8
37 positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0072108 9.61 PAX2 PAX8
38 metanephric nephron tubule formation GO:0072289 9.61 PAX2 PAX8
39 positive regulation of secondary heart field cardioblast proliferation GO:0072513 9.6 EYA1 SIX1
40 metanephric distal convoluted tubule development GO:0072221 9.59 PAX2 PAX8
41 negative regulation of mesenchymal cell apoptotic process involved in metanephros development GO:1900212 9.58 PAX2 PAX8
42 otic vesicle development GO:0071599 9.58 EYA1 PAX8 SIX1
43 positive regulation of metanephric DCT cell differentiation GO:2000594 9.56 PAX2 PAX8
44 negative regulation of apoptotic process involved in metanephric nephron tubule development GO:1900218 9.55 PAX2 PAX8
45 pronephric field specification GO:0039003 9.54 PAX2 PAX8
46 negative regulation of apoptotic process involved in metanephric collecting duct development GO:1900215 9.52 PAX2 PAX8
47 negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis GO:0072305 9.51 PAX2 PAX8
48 branching involved in ureteric bud morphogenesis GO:0001658 9.35 EYA1 PAX2 PAX8 SIX1 TCF21
49 sensory perception of sound GO:0007605 9.17 CCDC50 COL11A2 EYA1 EYA4 MYH14 PAX3
50 regulation of transcription, DNA-templated GO:0006355 10.11 DACH1 EYA1 EYA4 GRHL2 PAX2 PAX3

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding transcription factor activity GO:0003700 9.63 DACH1 GRHL2 PAX3 PAX8 SIX1 SIX3
2 DNA binding GO:0003677 9.56 DACH1 GRHL2 PAX2 PAX8 SIX1 SIX3
3 sequence-specific DNA binding GO:0043565 9.1 GRHL2 PAX3 PAX8 SIX1 SIX3 SIX5

Sources for Deafness, Autosomal Dominant 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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