DFNA13
MCID: DFN137
MIFTS: 35

Deafness, Autosomal Dominant 13 (DFNA13)

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

Aliases & Classifications for Deafness, Autosomal Dominant 13

MalaCards integrated aliases for Deafness, Autosomal Dominant 13:

Name: Deafness, Autosomal Dominant 13 57 29 13 6 73
Dfna13 57 12 75
Autosomal Dominant Nonsyndromic Deafness 13 12 15
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 13 75
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 13 75
Deafness, Autosomal Dominant, Type 13 40
Deafness, Autosomal Dominant, 13 75
Autosomal Dominant Deafness 13 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
allelic disorder to stickler syndrome 3
allelic disorder to osmed allelic disorder to weissenbacher-zweymuller syndrome


HPO:

32
deafness, autosomal dominant 13:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 601868
Disease Ontology 12 DOID:0110545
ICD10 33 H90.3
MedGen 42 C1866095
MeSH 44 D006319
SNOMED-CT via HPO 69 263681008 60700002
UMLS 73 C1866095

Summaries for Deafness, Autosomal Dominant 13

UniProtKB/Swiss-Prot : 75 Deafness, autosomal dominant, 13: 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 13, also known as dfna13, is related to nonsyndromic deafness and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. An important gene associated with Deafness, Autosomal Dominant 13 is COL11A2 (Collagen Type XI Alpha 2 Chain). Affiliated tissues include brain, and related phenotypes are sensorineural hearing impairment and hearing/vestibular/ear

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade of life with mid-frequency hearing loss and has material basis in mutation in the COL11A2 gene on chromosome 6p21.

Description from OMIM: 601868

Related Diseases for Deafness, Autosomal Dominant 13

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 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
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 105 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32 Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 86 Otof-Related Deafness

Diseases related to Deafness, Autosomal Dominant 13 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 nonsyndromic deafness 27.8 COCH COL11A2 EYA4 GJB2 GSDME MYO7A
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
3 deafness, autosomal dominant 44 10.2 CCDC50 COL11A2 EYA4
4 deafness, autosomal dominant 10 10.2 CCDC50 COL11A2 EYA4
5 deafness, autosomal recessive 98 10.2 TMPRSS3 TMPRSS4
6 auditory neuropathy spectrum disorder 10.2 MYO7A OTOF
7 deafness, autosomal dominant 11 10.2 GSDME MYO7A
8 deafness, autosomal recessive 24 10.1 TMPRSS3 TMPRSS4
9 deafness, autosomal recessive 8 10.1 STRC TMPRSS3 TMPRSS4
10 deafness, autosomal dominant 9 10.1 COCH GSDME STRC
11 retinitis pigmentosa-deafness syndrome 10.1 MYO7A USH2A
12 deafness, autosomal recessive 25 10.1 TMPRSS3 TMPRSS4
13 deafness, autosomal dominant 22 10.1 COCH MYO7A
14 deafness, autosomal dominant 12 10.1 CCDC50 COL11A2 GSDME OTOG OTOGL
15 usher syndrome, type id 10.1 MYO7A USH2A
16 deafness, autosomal recessive 21 10.0 GJB2 OTOG
17 deafness, autosomal dominant 17 10.0 GSDME MYO7A
18 deafness, autosomal recessive 59 10.0 GJB2 OTOF
19 auditory neuropathy, autosomal dominant, 1 10.0 GJB2 OTOF
20 deafness, autosomal recessive 9 10.0 GJB2 OTOF
21 deafness, autosomal recessive 3 10.0 GJB2 MYO7A
22 deafness, autosomal recessive 1a 10.0 GJB2 OTOF
23 deafness, autosomal dominant 31 9.9 MYLIP PHACTR1 POU5F1 SOX4
24 dfnb1 9.9 GJB2 MYO7A OTOF
25 deafness, autosomal recessive 2 9.9 GJB2 MYO7A OTOF
26 deafness, autosomal recessive 12 9.9 GJB2 MYO7A
27 deafness, autosomal dominant 36 9.8 GJB2 SLC26A4
28 deafness, autosomal recessive 6 9.8 GJB2 MYO7A USH2A
29 peripheral vertigo 9.8 COCH SLC26A4
30 hodgkin's lymphoma, nodular sclerosis 9.8 GJB2 SLC26A4 STRC
31 deafness, autosomal dominant 21 9.8 GSDME MYLIP PHACTR1 POU5F1 SOX4
32 deafness, autosomal recessive 26 9.8 GJB2 OTOF SLC26A4
33 usher syndrome 9.8 GJB2 MYO7A USH2A
34 vestibular disease 9.8 COCH GJB2 SLC26A4
35 deafness, autosomal recessive 23 9.8 GJB2 MYO7A SLC26A4
36 deafness, autosomal recessive 30 9.7 GJB2 MYO7A SLC26A4
37 deafness, autosomal recessive 85 9.7 MYO7A OTOF SLC26A4 TMPRSS3 TMPRSS4
38 deafness, autosomal recessive 83 9.7 MYO7A OTOF SLC26A4 TMPRSS3 TMPRSS4
39 autosomal recessive nonsyndromic deafness 3 9.6 GJB2 MYO7A OTOF SLC26A4
40 autosomal recessive nonsyndromic deafness 9.6 GJB2 OTOF OTOG SLC26A4 TMPRSS3
41 deafness, autosomal dominant 2a 9.6 COCH GJB2 TMPRSS3 TMPRSS4 WFS1
42 inner ear disease 9.4 COCH GJB2 MYO7A SLC26A4 WFS1
43 branchiootic syndrome 1 9.4 GJB2 MYO7A OTOF OTOG SLC26A4 USH2A
44 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.3 COCH GJB2 MYO7A OTOF SLC26A4 WFS1
45 auditory system disease 9.3 COCH EYA4 GJB2 MYO7A OTOF SLC26A4
46 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.3 COL11A2 GJB2 MYO7A OTOF OTOG OTOGL
47 non-syndromic genetic deafness 9.1 COCH GJB2 GSDME OTOF OTOG OTOGL
48 autosomal dominant nonsyndromic deafness 9.1 CCDC50 COCH COL11A2 EYA4 GJB2 GSDME
49 deafness, autosomal recessive 16 9.0 COCH COL11A2 GJB2 MYO7A OTOF SLC26A4
50 deafness, autosomal dominant 6 8.9 COCH COL11A2 GJB2 GSDME MYO7A OTOF

Graphical network of the top 20 diseases related to Deafness, Autosomal Dominant 13:



Diseases related to Deafness, Autosomal Dominant 13

Symptoms & Phenotypes for Deafness, Autosomal Dominant 13

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
congenital non-progressive, non-syndromic sensorineural hearing loss (greater mid frequency than low- or high-frequency loss)


Clinical features from OMIM:

601868

Human phenotypes related to Deafness, Autosomal Dominant 13:

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

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 13:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.73 COCH COL11A2 EYA4 GJB2 GSDME MYO7A
2 nervous system MP:0003631 9.36 GJB2 GSDME MYO7A OTOF OTOG POU5F1

Drugs & Therapeutics for Deafness, Autosomal Dominant 13

Search Clinical Trials , NIH Clinical Center for Deafness, Autosomal Dominant 13

Genetic Tests for Deafness, Autosomal Dominant 13

Genetic tests related to Deafness, Autosomal Dominant 13:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 13 29 COL11A2

Anatomical Context for Deafness, Autosomal Dominant 13

MalaCards organs/tissues related to Deafness, Autosomal Dominant 13:

41
Brain

Publications for Deafness, Autosomal Dominant 13

Articles related to Deafness, Autosomal Dominant 13:

# Title Authors Year
1
Audiological characteristics of some affected members of a Dutch DFNA13/COL11A2 family. ( 15562903 )
2004
2
The phenotype of DFNA13/COL11A2. ( 12408068 )
2002
3
A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p. ( 9382104 )
1997

Variations for Deafness, Autosomal Dominant 13

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 13:

75
# Symbol AA change Variation ID SNP ID
1 COL11A2 p.Gly808Glu VAR_010655 rs121912948
2 COL11A2 p.Arg1034Cys VAR_010656 rs121912947

ClinVar genetic disease variations for Deafness, Autosomal Dominant 13:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COL11A2 NM_080680.2(COL11A2): c.2423G> A (p.Gly808Glu) single nucleotide variant Pathogenic rs121912948 GRCh37 Chromosome 6, 33142311: 33142311
2 COL11A2 NM_080680.2(COL11A2): c.2423G> A (p.Gly808Glu) single nucleotide variant Pathogenic rs121912948 GRCh38 Chromosome 6, 33174534: 33174534
3 COL11A2 NM_080680.2(COL11A2): c.3100C> T (p.Arg1034Cys) single nucleotide variant Likely pathogenic rs121912947 GRCh37 Chromosome 6, 33139540: 33139540
4 COL11A2 NM_080680.2(COL11A2): c.3100C> T (p.Arg1034Cys) single nucleotide variant Likely pathogenic rs121912947 GRCh38 Chromosome 6, 33171763: 33171763
5 COL11A2 NM_080680.2(COL11A2): c.3932A> G (p.Asn1311Ser) single nucleotide variant Uncertain significance rs727504460 GRCh38 Chromosome 6, 33168547: 33168547
6 COL11A2 NM_080680.2(COL11A2): c.3932A> G (p.Asn1311Ser) single nucleotide variant Uncertain significance rs727504460 GRCh37 Chromosome 6, 33136324: 33136324
7 COL11A2 NM_080680.2(COL11A2): c.2921C> T (p.Ala974Val) single nucleotide variant Conflicting interpretations of pathogenicity rs376797260 GRCh38 Chromosome 6, 33172356: 33172356
8 COL11A2 NM_080680.2(COL11A2): c.2921C> T (p.Ala974Val) single nucleotide variant Conflicting interpretations of pathogenicity rs376797260 GRCh37 Chromosome 6, 33140133: 33140133
9 COL11A2 NM_001163771.1(COL11A2): c.688G> T (p.Gly230Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs141430703 GRCh37 Chromosome 6, 33154514: 33154514
10 COL11A2 NM_001163771.1(COL11A2): c.688G> T (p.Gly230Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs141430703 GRCh38 Chromosome 6, 33186737: 33186737

Expression for Deafness, Autosomal Dominant 13

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 13.

Pathways for Deafness, Autosomal Dominant 13

GO Terms for Deafness, Autosomal Dominant 13

Cellular components related to Deafness, Autosomal Dominant 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 8.92 MYO7A OTOG SLC26A4 USH2A

Biological processes related to Deafness, Autosomal Dominant 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.62 EYA4 MYO7A USH2A WFS1
2 sensory perception of sound GO:0007605 9.5 CCDC50 COCH COL11A2 EYA4 GJB2 GSDME
3 inner ear development GO:0048839 9.43 EYA4 GJB2 MYO7A
4 auditory receptor cell stereocilium organization GO:0060088 9.4 MYO7A STRC
5 sensory perception of light stimulus GO:0050953 9.37 MYO7A USH2A
6 L-arabinose metabolic process GO:0046373 9.16 OTOG OTOGL
7 inner ear receptor cell differentiation GO:0060113 9.13 GSDME MYO7A USH2A

Molecular functions related to Deafness, Autosomal Dominant 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 alpha-L-arabinofuranosidase activity GO:0046556 8.62 OTOG OTOGL

Sources for Deafness, Autosomal Dominant 13

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
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34 ICD10 via Orphanet
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69 SNOMED-CT via HPO
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