DFNA23
MCID: DFN192
MIFTS: 31

Deafness, Autosomal Dominant 23 (DFNA23)

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

Aliases & Classifications for Deafness, Autosomal Dominant 23

MalaCards integrated aliases for Deafness, Autosomal Dominant 23:

Name: Deafness, Autosomal Dominant 23 56 29 13 6 71
Dfna23 56 12 73
Autosomal Dominant Nonsyndromic Deafness 23 12 15
Deafness, Autosomal Dominant, Type 23 39
Deafness, Autosomal Dominant, 23 73
Autosomal Dominant Deafness 23 12

Characteristics:

OMIM:

56
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:

Disease Ontology 12 DOID:0110553
OMIM 56 605192
OMIM Phenotypic Series 56 PS124900
MeSH 43 D006319
ICD10 32 H90.3
MedGen 41 C1854594
UMLS 71 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 autosomal dominant non-syndromic sensorineural deafness type dfna and nonsyndromic hearing loss. An important gene associated with Deafness, Autosomal Dominant 23 is SIX1 (SIX Homeobox 1). Affiliated tissues include kidney, and related phenotypes are conductive hearing impairment and preauricular pit

UniProtKB/Swiss-Prot : 73 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.

More information from OMIM: 605192 PS124900

Related Diseases for Deafness, Autosomal Dominant 23

Diseases in the Rare 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 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 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 Deafness, Autosomal Recessive 110
Deafness, Autosomal Dominant 74 Deafness, Autosomal Recessive 111
Deafness, Autosomal Recessive 112 Deafness, Autosomal Recessive 113
Deafness, Autosomal Recessive 100 Deafness, Autosomal Recessive 94
Deafness, Autosomal Recessive 114 Deafness, Autosomal Recessive 115
Deafness, Autosomal Recessive 99 Deafness, Autosomal Dominant 37
Deafness, Autosomal Dominant 75 Deafness, Autosomal Dominant 76
Deafness, Autosomal Dominant 77 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 32
Autosomal Recessive Nonsyndromic Deafness 36 Nonsyndromic Deafness
Otof-Related Deafness Familial Deafness

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

(show all 17)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant non-syndromic sensorineural deafness type dfna 30.3 SIX1 COCH
2 nonsyndromic hearing loss 30.1 SIX1 COCH
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
4 branchiootorenal spectrum disorder 10.2
5 branchiootic syndrome 3 10.2 SIX1 MIR9718
6 branchiootic syndrome 10.2 SIX1 MIR9718
7 deafness, autosomal dominant 18 10.0 NGRN COCH
8 deafness, autosomal dominant 16 10.0 NGRN COCH
9 renal hypodysplasia/aplasia 1 9.9 TMCO1 SIX1
10 autosomal dominant nonsyndromic deafness 9.8 SIX1 COCH
11 optic nerve hypoplasia, bilateral 9.8 TMCO1 GAS7
12 glaucoma, normal tension 9.7 TMCO1 SIX1 GAS7
13 open-angle glaucoma 9.6 TMCO1 SIX1 GAS7
14 deafness, autosomal dominant 53 9.6 STXBP6 SLC22A17 COCH
15 intraocular pressure quantitative trait locus 9.5 TMCO1 COCH
16 deafness, autosomal recessive 5 9.3 STXBP6 SLC22A17 NGRN COCH
17 glaucoma, primary open angle 8.7 TMCO1 SIX1 GAS7 FNDC3B COCH

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

Human phenotypes related to Deafness, Autosomal Dominant 23:

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

Symptoms via clinical synopsis from OMIM:

56
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

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:

40
Kidney

Publications for Deafness, Autosomal Dominant 23

Articles related to Deafness, Autosomal Dominant 23:

# Title Authors PMID Year
1
A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred. 6 56 61
10777717 2000
2
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. 56 6
15141091 2004
3
A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans. 61 6
21700001 2011
4
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 6
24651602 2014
5
Hereditary Hearing Loss and Deafness Overview 6
20301607 1999
6
A novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12. 61
15958501 2006
7
A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1-14q24.3 in large consanguineous kindred from Pakistan. 61
12529709 2003

Variations for Deafness, Autosomal Dominant 23

ClinVar genetic disease variations for Deafness, Autosomal Dominant 23:

6 (show all 50) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SIX1 NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys)SNV Pathogenic 8308 rs104894478 14:61115522-61115522 14:60648804-60648804
2 SIX1 NM_005982.4(SIX1):c.397_399del (p.Glu133del)deletion Pathogenic 8310 rs80356460 14:61115509-61115511 14:60648791-60648793
3 SIX1 NM_005982.4(SIX1):c.373G>A (p.Glu125Lys)SNV Pathogenic 208361 rs797044960 14:61115535-61115535 14:60648817-60648817
4 SIX1 NM_005982.4(SIX1):c.460A>T (p.Lys154Ter)SNV Likely pathogenic 417916 rs1060499595 14:61115448-61115448 14:60648730-60648730
5 SIX1 NM_005982.4(SIX1):c.746C>T (p.Pro249Leu)SNV Conflicting interpretations of pathogenicity 884094 14:61113110-61113110 14:60646392-60646392
6 SIX1 NM_005982.4(SIX1):c.330G>A (p.Arg110=)SNV Conflicting interpretations of pathogenicity 497460 rs73309461 14:61115578-61115578 14:60648860-60648860
7 SIX1 NM_005982.4(SIX1):c.679G>T (p.Asp227Tyr)SNV Conflicting interpretations of pathogenicity 633689 rs144481204 14:61113177-61113177 14:60646459-60646459
8 SIX1 NM_005982.4(SIX1):c.*755T>GSNV Uncertain significance 313452 rs868568764 14:61112246-61112246 14:60645528-60645528
9 SIX1 NM_005982.4(SIX1):c.*161C>ASNV Uncertain significance 313463 rs886050571 14:61112840-61112840 14:60646122-60646122
10 SIX1 NM_005982.4(SIX1):c.-161G>CSNV Uncertain significance 313471 rs886050573 14:61116068-61116068 14:60649350-60649350
11 SIX1 NM_005982.4(SIX1):c.-185T>CSNV Uncertain significance 313473 rs745791461 14:61116092-61116092 14:60649374-60649374
12 SIX1 NM_005982.4(SIX1):c.*736T>GSNV Uncertain significance 313453 rs768828257 14:61112265-61112265 14:60645547-60645547
13 SIX1 NM_005982.4(SIX1):c.681C>A (p.Asp227Glu)SNV Uncertain significance 884095 14:61113175-61113175 14:60646457-60646457
14 SIX1 NM_005982.4(SIX1):c.495C>T (p.Thr165=)SNV Uncertain significance 880804 14:61115413-61115413 14:60648695-60648695
15 SIX1 NM_005982.4(SIX1):c.191G>A (p.Arg64His)SNV Uncertain significance 444331 rs1051653507 14:61115717-61115717 14:60648999-60648999
16 SIX1 NM_005982.4(SIX1):c.644G>T (p.Ser215Ile)SNV Uncertain significance 466173 rs540778343 14:61113212-61113212 14:60646494-60646494
17 SIX1 NM_005982.4(SIX1):c.*1251A>GSNV Uncertain significance 882088 14:61111750-61111750 14:60645032-60645032
18 SIX1 NM_005982.4(SIX1):c.*1232T>CSNV Uncertain significance 882089 14:61111769-61111769 14:60645051-60645051
19 SIX1 NM_005982.4(SIX1):c.*1080A>TSNV Uncertain significance 882090 14:61111921-61111921 14:60645203-60645203
20 SIX1 NM_005982.4(SIX1):c.*858C>TSNV Uncertain significance 883235 14:61112143-61112143 14:60645425-60645425
21 SIX1 NM_005982.4(SIX1):c.*766T>ASNV Uncertain significance 884035 14:61112235-61112235 14:60645517-60645517
22 SIX1 NM_005982.4(SIX1):c.*688C>TSNV Uncertain significance 880739 14:61112313-61112313 14:60645595-60645595
23 SIX1 NM_005982.4(SIX1):c.*266C>ASNV Uncertain significance 883288 14:61112735-61112735 14:60646017-60646017
24 SIX1 NM_005982.4(SIX1):c.*249A>GSNV Uncertain significance 883289 14:61112752-61112752 14:60646034-60646034
25 SIX1 NM_005982.4(SIX1):c.*140C>TSNV Uncertain significance 883290 14:61112861-61112861 14:60646143-60646143
26 SIX1 NM_005982.4(SIX1):c.822C>T (p.Pro274=)SNV Uncertain significance 313464 rs368353344 14:61113034-61113034 14:60646316-60646316
27 SIX1 NM_005982.4(SIX1):c.-84C>GSNV Uncertain significance 313468 rs886050572 14:61115991-61115991 14:60649273-60649273
28 SIX1 NM_005982.4(SIX1):c.-213C>GSNV Uncertain significance 313474 rs771815597 14:61116120-61116120 14:60649402-60649402
29 SIX1 NM_005982.4(SIX1):c.*1001T>CSNV Uncertain significance 313447 rs886050568 14:61112000-61112000 14:60645282-60645282
30 SIX1 NM_005982.4(SIX1):c.*371A>GSNV Uncertain significance 313458 rs538935374 14:61112630-61112630 14:60645912-60645912
31 SIX1 NM_005982.4(SIX1):c.-213C>TSNV Uncertain significance 884151 14:61116120-61116120 14:60649402-60649402
32 SIX1 NM_005982.4(SIX1):c.*767A>TSNV Likely benign 313449 rs574976629 14:61112234-61112234 14:60645516-60645516
33 SIX1 NM_005982.4(SIX1):c.474C>T (p.Ala158=)SNV Likely benign 466172 rs199743522 14:61115434-61115434 14:60648716-60648716
34 SIX1 NM_005982.4(SIX1):c.705G>T (p.Gln235His)SNV Likely benign 689601 14:61113151-61113151 14:60646433-60646433
35 SIX1 NM_005982.4(SIX1):c.162G>A (p.Ala54=)SNV Benign/Likely benign 227075 rs150550985 14:61115746-61115746 14:60649028-60649028
36 SIX1 NM_005982.4(SIX1):c.-14G>TSNV Benign/Likely benign 313467 rs374228886 14:61115921-61115921 14:60649203-60649203
37 SIX1 NM_005982.4(SIX1):c.-137C>TSNV Benign/Likely benign 313470 rs139621918 14:61116044-61116044 14:60649326-60649326
38 SIX1 NM_005982.4(SIX1):c.-184A>CSNV Benign/Likely benign 313472 rs187402923 14:61116091-61116091 14:60649373-60649373
39 SIX1 NM_005982.4(SIX1):c.-24C>TSNV Benign/Likely benign 882199 14:61115931-61115931 14:60649213-60649213
40 SIX1 NM_005982.4(SIX1):c.*443A>GSNV Benign/Likely benign 313456 rs186530769 14:61112558-61112558 14:60645840-60645840
41 SIX1 NM_005982.4(SIX1):c.*1079T>ASNV Benign/Likely benign 313444 rs559116477 14:61111922-61111922 14:60645204-60645204
42 SIX1 NM_005982.4(SIX1):c.*1044G>TSNV Benign/Likely benign 313445 rs3742637 14:61111957-61111957 14:60645239-60645239
43 SIX1 NM_005982.4(SIX1):c.578A>T (p.Asn193Ile)SNV Benign/Likely benign 313465 rs142301715 14:61113278-61113278 14:60646560-60646560
44 SIX1 NM_005982.4(SIX1):c.180C>G (p.Arg60=)SNV Benign/Likely benign 313466 rs781519092 14:61115728-61115728 14:60649010-60649010
45 SIX1 NM_005982.4(SIX1):c.*334C>GSNV Benign 313459 rs10144415 14:61112667-61112667 14:60645949-60645949
46 SIX1 NM_005982.4(SIX1):c.*297T>GSNV Benign 313460 rs147081368 14:61112704-61112704 14:60645986-60645986
47 SIX1 NM_005982.4(SIX1):c.-121C>GSNV Benign 313469 rs375002099 14:61116028-61116028 14:60649310-60649310
48 SIX1 NM_005982.4(SIX1):c.*602G>CSNV Benign 313454 rs78909843 14:61112399-61112399 14:60645681-60645681
49 SIX1 NM_005982.4(SIX1):c.*1496C>TSNV Benign 313442 rs61993831 14:61111505-61111505 14:60644787-60644787
50 SIX1 NM_005982.4(SIX1):c.*404A>GSNV Benign 313457 rs76116881 14:61112597-61112597 14:60645879-60645879

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

Sources for Deafness, Autosomal Dominant 23

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10 dbSNP
11 DGIdb
17 EFO
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56 OMIM
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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