DFNA23
MCID: DFN192
MIFTS: 34

Deafness, Autosomal Dominant 23 (DFNA23) malady

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

Aliases & Classifications for Deafness, Autosomal Dominant 23

Aliases & Descriptions for Deafness, Autosomal Dominant 23:

Name: Deafness, Autosomal Dominant 23 54 13 69
Autosomal Dominant Nonsyndromic Deafness 23 12 14
Deafness, Autosomal Dominant, 23 66 29
Dfna23 12 66
Autosomal Dominant Deafness 23 12

Characteristics:

HPO:

32
deafness, autosomal dominant 23:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 605192
Disease Ontology 12 DOID:0110553
ICD10 33 H90.3
MedGen 40 C1854594
MeSH 42 D006319

Summaries for Deafness, Autosomal Dominant 23

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset with high frequency progressive hearing loss and has material basis in mutation in the SIX1 gene on chromosome 14q23.

MalaCards based summary : Deafness, Autosomal Dominant 23, also known as autosomal dominant nonsyndromic deafness 23, is related to dfna23 nonsyndromic hearing loss and deafness and corticosterone methyloxidase deficiency, and has symptoms including vesicoureteral reflux, conductive hearing impairment and sensorineural hearing impairment. An important gene associated with Deafness, Autosomal Dominant 23 is SIX1 (SIX Homeobox 1). Related phenotype is hearing/vestibular/ear.

UniProtKB/Swiss-Prot : 66 Deafness, autosomal dominant, 23: A form of non-syndromic deafness characterized by prelingual, bilateral, symmetric hearing loss with a conductive component present in some but not all patients.

Description from OMIM: 605192

Related Diseases for Deafness, Autosomal Dominant 23

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 32
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 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 Recessive 103
Deafness, Autosomal Dominant 22 Deafness, Autosomal Recessive 37
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 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 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 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 Recessive 48 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 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 105 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 47 Autosomal Recessive Nonsyndromic Deafness 8
Autosomal Recessive Nonsyndromic Deafness 97 Autosomal Dominant Nonsyndromic Deafness 12
Autosomal Dominant Nonsyndromic Deafness 20 Autosomal Dominant Nonsyndromic Deafness 6
Autosomal Dominant Nonsyndromic Deafness 66 Autosomal Dominant Nonsyndromic Deafness 68
Autosomal Dominant Nonsyndromic Deafness 69 Autosomal Dominant Nonsyndromic Deafness 70
Otof-Related Deafness

Diseases related to Deafness, Autosomal Dominant 23 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
id Related Disease Score Top Affiliating Genes
1 dfna23 nonsyndromic hearing loss and deafness 11.8
2 corticosterone methyloxidase deficiency 10.1 EYA1 SIX1
3 clcn7-related osteopetrosis 10.1 EYA1 SIX1
4 rhizomelic chondrodysplasia punctata spectrum 10.1 EYA1 SIX1
5 otofaciocervical syndrome 10.1 EYA1 SIX1
6 retinitis pigmentosa 63 10.1 EYA1 SIX1
7 amenorrhea 10.1 EYA1 SIX1
8 warburg micro syndrome 10.0 EYA1 SIX1
9 hereditary angioedema 10.0 EYA1 SIX1
10 colorectal cancer 5 10.0 COCH SIX1
11 pancreatic agenesis 2 10.0 EYA1 SIX1
12 telangiectasia macularis eruptiva perstans 9.9 COCH SIX1
13 pepck deficiency, mitochondrial 9.5 APPL1 COCH SLC22A17 STXBP6
14 atrial septal defect 3 9.5 APPL1 COCH SLC22A17 STXBP6
15 glaucoma 3, primary congenital, c 9.5 APPL1 COCH SLC22A17 STXBP6
16 emery-dreifuss muscular dystrophy 5, autosomal dominant 9.2 APPL1 COCH EYA1 SIX1 SLC22A17 STXBP6

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 23:



Diseases related to Deafness, Autosomal Dominant 23

Symptoms & Phenotypes for Deafness, Autosomal Dominant 23

Symptoms by clinical synopsis from OMIM:

605192

Clinical features from OMIM:

605192

Human phenotypes related to Deafness, Autosomal Dominant 23:

32
id Description HPO Frequency HPO Source Accession
1 vesicoureteral reflux 32 HP:0000076
2 conductive hearing impairment 32 HP:0000405
3 sensorineural hearing impairment 32 HP:0000407
4 preauricular pit 32 HP:0004467

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 23:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.8 COCH EYA1 SIX1

Drugs & Therapeutics for Deafness, Autosomal Dominant 23

Interventional clinical trials:


id Name Status NCT ID Phase
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Deafness, Autosomal Dominant 23

Genetic Tests for Deafness, Autosomal Dominant 23

Genetic tests related to Deafness, Autosomal Dominant 23:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 23 29

Anatomical Context for Deafness, Autosomal Dominant 23

Publications for Deafness, Autosomal Dominant 23

Variations for Deafness, Autosomal Dominant 23

ClinVar genetic disease variations for Deafness, Autosomal Dominant 23:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SIX1 NM_005982.3(SIX1): c.397_399delGAG (p.Glu133del) deletion Pathogenic rs80356460 GRCh37 Chromosome 14, 61115509: 61115511
2 SIX1 NM_005982.3(SIX1): c.373G> A (p.Glu125Lys) single nucleotide variant Pathogenic rs797044960 GRCh38 Chromosome 14, 60648817: 60648817
3 SIX1 NM_005982.3(SIX1): c.460A> T (p.Lys154Ter) single nucleotide variant Likely pathogenic rs1060499595 GRCh38 Chromosome 14, 60648730: 60648730

Expression for Deafness, Autosomal Dominant 23

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 23.

Pathways for Deafness, Autosomal Dominant 23

GO Terms for Deafness, Autosomal Dominant 23

Biological processes related to Deafness, Autosomal Dominant 23 according to GeneCards Suite gene sharing:

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 inner ear morphogenesis GO:0042472 9.56 EYA1 SIX1
2 pattern specification process GO:0007389 9.55 EYA1 SIX1
3 embryonic skeletal system morphogenesis GO:0048704 9.54 EYA1 SIX1
4 outflow tract morphogenesis GO:0003151 9.52 EYA1 SIX1
5 ureteric bud development GO:0001657 9.51 EYA1 SIX1
6 branching involved in ureteric bud morphogenesis GO:0001658 9.49 EYA1 SIX1
7 regulation of neuron differentiation GO:0045664 9.48 EYA1 SIX1
8 cochlea morphogenesis GO:0090103 9.46 EYA1 SIX1
9 middle ear morphogenesis GO:0042474 9.43 EYA1 SIX1
10 pharyngeal system development GO:0060037 9.4 EYA1 SIX1
11 neuron fate specification GO:0048665 9.37 EYA1 SIX1
12 sensory perception of sound GO:0007605 9.33 COCH EYA1 SIX1
13 anatomical structure development GO:0048856 9.32 EYA1 SIX1
14 aorta morphogenesis GO:0035909 9.26 EYA1 SIX1
15 otic vesicle development GO:0071599 8.96 EYA1 SIX1
16 positive regulation of secondary heart field cardioblast proliferation GO:0072513 8.62 EYA1 SIX1

Sources for Deafness, Autosomal Dominant 23

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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