MCID: DFN192
MIFTS: 33

Deafness, Autosomal Dominant 23

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

Aliases & Classifications for Deafness, Autosomal Dominant 23

MalaCards integrated aliases for Deafness, Autosomal Dominant 23:

Name: Deafness, Autosomal Dominant 23 57 29 13 6 73
Dfna23 57 12 75
Autosomal Dominant Nonsyndromic Deafness 23 12 15
Deafness, Autosomal Dominant, Type 23 40
Deafness, Autosomal Dominant, 23 75
Autosomal Dominant Deafness 23 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
deafness, autosomal dominant 23:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 605192
Disease Ontology 12 DOID:0110553
ICD10 33 H90.3
MedGen 42 C1854594
MeSH 44 D006319
UMLS 73 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 spectrum disorders and branchiootorenal syndrome 1. An important gene associated with Deafness, Autosomal Dominant 23 is SIX1 (SIX Homeobox 1). Affiliated tissues include kidney, and related phenotypes are vesicoureteral reflux and conductive hearing impairment

UniProtKB/Swiss-Prot : 75 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 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 23 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 branchiootorenal spectrum disorders 10.2 EYA1 SIX1
2 branchiootorenal syndrome 1 10.2 EYA1 SIX1
3 lacrimal duct obstruction 10.2 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 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
8 autosomal dominant non-syndromic sensorineural deafness type dfna 9.9 COCH SIX1
9 renal hypodysplasia/aplasia 1 9.9 EYA1 SIX1
10 glaucoma, primary open angle 9.7 COCH SIX1
11 autosomal dominant nonsyndromic deafness 9.4 COCH EYA1
12 deafness, autosomal recessive 5 8.3 APPL1 COCH SLC22A17 STXBP6
13 deafness, autosomal dominant 53 8.3 APPL1 COCH SLC22A17 STXBP6
14 deafness, autosomal recessive 35 8.3 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:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 vesicoureteral reflux 32 HP:0000076
2 conductive hearing impairment 32 frequent (33%) HP:0000405
3 sensorineural hearing impairment 32 HP:0000407
4 preauricular pit 32 occasional (7.5%) HP:0004467

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 23:

46
# 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

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 29 SIX1

Anatomical Context for Deafness, Autosomal Dominant 23

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

41
Kidney

Publications for Deafness, Autosomal Dominant 23

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.397_399delGAG (p.Glu133del) deletion Pathogenic rs80356460 GRCh38 Chromosome 14, 60648791: 60648793
3 SIX1 NM_005982.3(SIX1): c.373G> A (p.Glu125Lys) single nucleotide variant Pathogenic rs797044960 GRCh38 Chromosome 14, 60648817: 60648817
4 SIX1 NM_005982.3(SIX1): c.373G> A (p.Glu125Lys) single nucleotide variant Pathogenic rs797044960 GRCh37 Chromosome 14, 61115535: 61115535
5 SIX1 NM_005982.3(SIX1): c.460A> T (p.Lys154Ter) single nucleotide variant Likely pathogenic rs1060499595 GRCh37 Chromosome 14, 61115448: 61115448
6 SIX1 NM_005982.3(SIX1): c.460A> T (p.Lys154Ter) single nucleotide variant Likely pathogenic rs1060499595 GRCh38 Chromosome 14, 60648730: 60648730
7 SIX1 NM_005982.3(SIX1): c.644G> T (p.Ser215Ile) single nucleotide variant Uncertain significance rs540778343 GRCh38 Chromosome 14, 60646494: 60646494
8 SIX1 NM_005982.3(SIX1): c.644G> T (p.Ser215Ile) single nucleotide variant Uncertain significance rs540778343 GRCh37 Chromosome 14, 61113212: 61113212
9 SIX1 NM_005982.3(SIX1): c.474C> T (p.Ala158=) single nucleotide variant Likely benign rs199743522 GRCh37 Chromosome 14, 61115434: 61115434
10 SIX1 NM_005982.3(SIX1): c.474C> T (p.Ala158=) single nucleotide variant Likely benign rs199743522 GRCh38 Chromosome 14, 60648716: 60648716

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 branching involved in ureteric bud morphogenesis GO:0001658 9.51 EYA1 SIX1
6 ureteric bud development GO:0001657 9.49 EYA1 SIX1
7 anatomical structure development GO:0048856 9.48 EYA1 SIX1
8 regulation of neuron differentiation GO:0045664 9.46 EYA1 SIX1
9 cochlea morphogenesis GO:0090103 9.43 EYA1 SIX1
10 middle ear morphogenesis GO:0042474 9.4 EYA1 SIX1
11 pharyngeal system development GO:0060037 9.37 EYA1 SIX1
12 sensory perception of sound GO:0007605 9.33 COCH EYA1 SIX1
13 neuron fate specification GO:0048665 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
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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