MCID: DFN192
MIFTS: 34

Deafness, Autosomal Dominant 23

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

Aliases & Classifications for Deafness, Autosomal Dominant 23

MalaCards integrated aliases for Deafness, Autosomal Dominant 23:

Name: Deafness, Autosomal Dominant 23 53 28 13 69
Dfna23 53 12 71
Autosomal Dominant Nonsyndromic Deafness 23 12 14
Deafness, Autosomal Dominant, 23 71
Autosomal Dominant Deafness 23 12

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 1 swiss german kindred and 1 tunisian kindred (last curated august 2015)


HPO:

31
deafness, autosomal dominant 23:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 605192
Disease Ontology 12 DOID:0110553
ICD10 32 H90.3
MedGen 39 C1854594
MeSH 41 D006319
UMLS 69 C1854594

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 dfna23, is related to branchiootorenal/branchiootic syndrome and branchiootorenal syndrome 1, and has symptoms including sensorineural hearing impairment, conductive hearing impairment and vesicoureteral reflux. An important gene associated with Deafness, Autosomal Dominant 23 is SIX1 (SIX Homeobox 1). Affiliated tissues include kidney.

UniProtKB/Swiss-Prot : 71 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 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 23 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 branchiootorenal/branchiootic syndrome 10.1 EYA1 SIX1
2 branchiootorenal syndrome 1 10.1 EYA1 SIX1
3 lacrimal duct obstruction 10.1 EYA1 SIX1
4 deafness, autosomal dominant 10 10.1 EYA1 SIX1
5 branchiootic syndrome 10.1 EYA1 SIX1
6 branchiootorenal syndrome 10.0 EYA1 SIX1
7 renal hypodysplasia/aplasia 1 9.9 EYA1 SIX1
8 autosomal dominant non-syndromic sensorineural deafness type dfna 9.9 COCH SIX1
9 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
10 glaucoma, primary open angle 9.8 COCH SIX1
11 autosomal dominant nonsyndromic deafness 9.6 COCH EYA1
12 deafness, autosomal recessive 5 8.9 APPL1 COCH SLC22A17 STXBP6
13 deafness, autosomal dominant 53 8.9 APPL1 COCH SLC22A17 STXBP6
14 deafness, autosomal recessive 35 8.9 APPL1 COCH 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 via clinical synopsis from OMIM:

53
Head And Neck Ears:
hearing loss, bilateral, moderate to profound (normal to mild at low frequencies, normal to profound in middle frequencies, and moderate to profound at high frequencies)
preauricular pits (in some patients)

Genitourinary Ureters:
vesicoureteral reflux (in 1 swiss german patient)

Genitourinary Kidneys:
solitary left hypodysplastic kidney (in 1 swiss german patient)


Clinical features from OMIM:

605192

Human phenotypes related to Deafness, Autosomal Dominant 23:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407
2 conductive hearing impairment 31 frequent (33%) HP:0000405
3 vesicoureteral reflux 31 HP:0000076
4 preauricular pit 31 occasional (7.5%) HP:0004467

Drugs & Therapeutics for Deafness, Autosomal Dominant 23

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 23

Genetic Tests for Deafness, Autosomal Dominant 23

Genetic tests related to Deafness, Autosomal Dominant 23:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 23 28 SIX1

Anatomical Context for Deafness, Autosomal Dominant 23

MalaCards organs/tissues related to Deafness, Autosomal Dominant 23:

38
Kidney

Publications for Deafness, Autosomal Dominant 23

Articles related to Deafness, Autosomal Dominant 23:

# Title Authors Year
1
A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred. ( 10777717 )
2000

Variations for Deafness, Autosomal Dominant 23

ClinVar genetic disease variations for Deafness, Autosomal Dominant 23:

6
# 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 GRCh37 Chromosome 14, 61115448: 61115448

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)
# 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 outflow tract morphogenesis GO:0003151 9.54 EYA1 SIX1
4 embryonic skeletal system morphogenesis GO:0048704 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
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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