MCID: DFN107
MIFTS: 39

Deafness, Autosomal Dominant 10

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

Aliases & Classifications for Deafness, Autosomal Dominant 10

MalaCards integrated aliases for Deafness, Autosomal Dominant 10:

Name: Deafness, Autosomal Dominant 10 57 29 13 6 73
Dfna10 57 12 75
Autosomal Dominant Nonsyndromic Deafness 10 12 15
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 10 75
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 10 75
Deafness, Autosomal Dominant, Type 10 40
Deafness, Autosomal Dominant, 10 75
Autosomal Dominant Deafness 10 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
deafness, autosomal dominant 10:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 601316
Disease Ontology 12 DOID:0110542
ICD10 33 H90.3
MedGen 42 C1832476
MeSH 44 D006319
SNOMED-CT via HPO 69 263681008 60700002
UMLS 73 C1832476

Summaries for Deafness, Autosomal Dominant 10

UniProtKB/Swiss-Prot : 75 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 syndrome and branchiootorenal spectrum disorders. 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 sensorineural hearing impairment and craniofacial

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 Deafness, Autosomal Recessive 57
Deafness, Autosomal Recessive 109 Nonsyndromic Deafness
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 36 Autosomal Recessive Nonsyndromic Deafness 86
Otof-Related Deafness

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

(show all 36)
# Related Disease Score Top Affiliating Genes
1 branchiootorenal syndrome 28.5 DACH1 EYA1 PAX2 SIX1 SIX5
2 branchiootorenal spectrum disorders 10.7 EYA1 SIX1
3 cardiomyopathy, dilated, 1j 10.7 EYA4 TCF21
4 branchiootorenal syndrome 1 10.6 EYA1 SIX1
5 deafness, autosomal dominant 23 10.6 EYA1 SIX1
6 deafness, autosomal dominant 48 10.6 EYA1 MYH14
7 deafness, autosomal dominant 12 10.5 CCDC50 COL11A2
8 branchiooculofacial syndrome 10.4 EYA1 SIX5
9 deafness, autosomal dominant 44 10.3 CCDC50 COL11A2 EYA4
10 deafness, autosomal dominant 13 10.3 CCDC50 COL11A2 EYA4
11 holoprosencephaly 2 10.3 SIX1 SIX3
12 renal hypoplasia 10.2 EYA1 PAX2
13 fraser syndrome 1 10.2 EYA1 SIX5
14 lacrimal duct obstruction 10.2 EYA1 SIX1 SIX5
15 branchiootic syndrome 10.2 EYA1 SIX1 SIX5
16 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
17 deafness, autosomal dominant 28 10.1 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 9.9 PAX2 PAX8
23 branchiootorenal/branchiootic syndrome 9.9
24 kidney benign neoplasm 9.9 PAX2 PAX8
25 rete testis neoplasm 9.8 PAX2 PAX8
26 endocervical adenocarcinoma 9.8 PAX2 PAX8
27 deafness, autosomal dominant 6 9.8 COL11A2 MYH14
28 adenocarcinoma in situ 9.8 PAX2 PAX8
29 nephrogenic adenofibroma 9.7 PAX2 PAX8
30 miles-carpenter syndrome 9.6 DACH1 PAX3
31 retinal hemangioblastoma 9.5 PAX2 PAX8
32 childhood kidney cell carcinoma 9.4 PAX2 PAX3
33 renal hypodysplasia/aplasia 1 9.4 EYA1 PAX2 SIX1 SIX5
34 nonsyndromic deafness 9.3 COL11A2 EYA4 MYH14 PAX3
35 autosomal dominant nonsyndromic deafness 9.3 CCDC50 COL11A2 EYA1 EYA4 GRHL2 MYH14
36 autosomal dominant non-syndromic sensorineural deafness type dfna 9.2 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:

57
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
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 10:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.19 TCF21 COL11A2 EYA1 EYA4 GRHL2 PAX3
2 mortality/aging MP:0010768 10.17 SIX1 SIX3 TCF21 PAX8 DACH1 EYA1
3 cardiovascular system MP:0005385 10.15 EYA1 GRHL2 MYH14 PAX2 PAX3 PAX8
4 endocrine/exocrine gland MP:0005379 10.15 DACH1 EYA1 EYA4 PAX2 PAX3 PAX8
5 growth/size/body region MP:0005378 10.13 COL11A2 EYA1 EYA4 GRHL2 PAX3 PAX8
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 PAX3 SIX1 SIX3 TCF21 EYA1 EYA4
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 PAX8 SIX1 SIX3 SIX5 EYA1 GRHL2

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 29 EYA4

Anatomical Context for Deafness, Autosomal Dominant 10

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

41
Brain

Publications for Deafness, Autosomal Dominant 10

Variations for Deafness, Autosomal Dominant 10

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

75
# 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_004100.4(EYA4): c.1739-1G> A single nucleotide variant Likely pathogenic rs797045088 GRCh38 Chromosome 6, 133525153: 133525153
7 EYA4 NM_172105.3(EYA4): c.441delC (p.Tyr148Ilefs) deletion Pathogenic rs878853223 GRCh38 Chromosome 6, 133462338: 133462338
8 EYA4 NM_172105.3(EYA4): c.441delC (p.Tyr148Ilefs) deletion Pathogenic rs878853223 GRCh37 Chromosome 6, 133783476: 133783476
9 EYA4 NM_004100.4(EYA4): c.1341-2A> G single nucleotide variant Likely pathogenic GRCh37 Chromosome 6, 133834014: 133834014
10 EYA4 NM_004100.4(EYA4): c.1341-2A> G single nucleotide variant Likely pathogenic GRCh38 Chromosome 6, 133512876: 133512876

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 51)
# 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 9.88 EYA4 PAX2 SIX3
4 anatomical structure morphogenesis GO:0009653 9.86 EYA1 EYA4 PAX8
5 animal organ morphogenesis GO:0009887 9.86 EYA1 PAX3 TCF21
6 kidney development GO:0001822 9.85 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 9.77 EYA1 SIX1 TCF21
10 inner ear morphogenesis GO:0042472 9.76 EYA1 PAX2 PAX8 SIX1
11 anatomical structure development GO:0048856 9.74 EYA1 EYA4 SIX1
12 lens development in camera-type eye GO:0002088 9.71 SIX3 SIX5
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 embryonic cranial skeleton morphogenesis GO:0048701 9.7 GRHL2 SIX1
16 regulation of neuron differentiation GO:0045664 9.7 EYA1 SIX1
17 positive regulation of DNA repair GO:0045739 9.7 EYA1 EYA4
18 thyroid gland development GO:0030878 9.69 PAX8 SIX1
19 animal organ development GO:0048513 9.69 PAX2 SIX1
20 middle ear morphogenesis GO:0042474 9.68 EYA1 SIX1
21 pharyngeal system development GO:0060037 9.68 EYA1 SIX1
22 neuron fate specification GO:0048665 9.68 EYA1 SIX1
23 aorta morphogenesis GO:0035909 9.67 EYA1 SIX1
24 urogenital system development GO:0001655 9.67 PAX2 PAX8
25 cochlea morphogenesis GO:0090103 9.67 EYA1 PAX2 SIX1
26 mesonephros development GO:0001823 9.66 PAX2 PAX8
27 metanephric mesenchyme development GO:0072075 9.66 PAX2 SIX1
28 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.65 PAX2 PAX8
29 pronephros development GO:0048793 9.65 PAX2 PAX8
30 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.65 PAX2 PAX8 SIX1
31 regulation of metanephric nephron tubule epithelial cell differentiation GO:0072307 9.64 PAX2 PAX8
32 histone dephosphorylation GO:0016576 9.64 EYA1 EYA4
33 metanephric mesenchymal cell differentiation GO:0072162 9.63 PAX2 TCF21
34 metanephric epithelium development GO:0072207 9.63 PAX2 PAX8
35 mesodermal cell fate specification GO:0007501 9.62 EYA1 PAX2
36 positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0072108 9.62 PAX2 PAX8
37 metanephric nephron tubule formation GO:0072289 9.61 PAX2 PAX8
38 metanephric distal convoluted tubule development GO:0072221 9.61 PAX2 PAX8
39 positive regulation of secondary heart field cardioblast proliferation GO:0072513 9.6 EYA1 SIX1
40 negative regulation of mesenchymal cell apoptotic process involved in metanephros development GO:1900212 9.58 PAX2 PAX8
41 pronephric field specification GO:0039003 9.56 PAX2 PAX8
42 positive regulation of metanephric DCT cell differentiation GO:2000594 9.55 PAX2 PAX8
43 negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis GO:0072305 9.54 PAX2 PAX8
44 otic vesicle development GO:0071599 9.54 EYA1 PAX8 SIX1
45 negative regulation of apoptotic process involved in metanephric collecting duct development GO:1900215 9.52 PAX2 PAX8
46 negative regulation of apoptotic process involved in metanephric nephron tubule development GO:1900218 9.51 PAX2 PAX8
47 branching involved in ureteric bud morphogenesis GO:0001658 9.35 EYA1 PAX2 PAX8 SIX1 TCF21
48 sensory perception of sound GO:0007605 9.17 CCDC50 COL11A2 EYA1 EYA4 MYH14 PAX3
49 regulation of transcription, DNA-templated GO:0006355 10.14 DACH1 EYA1 EYA4 GRHL2 PAX2 PAX3
50 transcription, DNA-templated GO:0006351 10.06 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 9.73 DACH1 GRHL2 PAX3 PAX8 SIX1 SIX3
2 sequence-specific DNA binding GO:0043565 9.63 GRHL2 PAX3 PAX8 SIX1 SIX3 SIX5
3 DNA binding GO:0003677 9.61 DACH1 GRHL2 PAX2 PAX3 PAX8 SIX1
4 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.23 GRHL2 PAX2 PAX3 PAX8 SIX1 SIX3

Sources for Deafness, Autosomal Dominant 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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