MCID: DFN137
MIFTS: 33

Deafness, Autosomal Dominant 13

Categories: Genetic diseases, Ear diseases, Neuronal diseases, Fetal diseases, Blood diseases, Rare diseases, Cardiovascular 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 deafness, autosomal dominant 44 and deafness, autosomal dominant 10. 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 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 13 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 44 10.7 CCDC50 COL11A2 EYA4
2 deafness, autosomal dominant 10 10.6 CCDC50 COL11A2 EYA4
3 deafness, autosomal recessive 98 10.6 TMPRSS3 TMPRSS4
4 auditory neuropathy spectrum disorder 10.5 MYO7A OTOF
5 deafness, autosomal dominant 11 10.5 GSDME MYO7A
6 deafness, autosomal recessive 24 10.5 TMPRSS3 TMPRSS4
7 deafness, autosomal dominant 9 10.4 COCH GSDME STRC
8 deafness, autosomal recessive 8 10.4 STRC TMPRSS3 TMPRSS4
9 deafness, autosomal recessive 25 10.3 TMPRSS3 TMPRSS4
10 deafness, autosomal dominant 22 10.3 COCH MYO7A
11 deafness, autosomal dominant 12 10.2 CCDC50 COL11A2 GSDME OTOG OTOGL
12 usher syndrome, type id 10.2 MYO7A USH2A
13 deafness, autosomal recessive 21 10.1 GJB2 OTOG
14 deafness, autosomal dominant 17 10.1 GSDME MYO7A
15 deafness, autosomal recessive 59 10.0 GJB2 OTOF
16 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
17 auditory neuropathy, autosomal dominant, 1 10.0 GJB2 OTOF
18 yemenite deaf-blind hypopigmentation syndrome 10.0 MYO7A USH2A
19 deafness, autosomal recessive 9 10.0 GJB2 OTOF
20 deafness, autosomal recessive 3 9.9 GJB2 MYO7A
21 deafness, autosomal recessive 1a 9.9 GJB2 OTOF
22 deafness, autosomal dominant 31 9.7 MYLIP PHACTR1 POU5F1 SOX4
23 deafness, autosomal recessive 12 9.7 GJB2 MYO7A
24 dfnb1 9.6 GJB2 MYO7A OTOF
25 deafness, autosomal recessive 2 9.6 GJB2 MYO7A OTOF
26 deafness, autosomal dominant 36 9.5 GJB2 SLC26A4
27 deafness, autosomal dominant 21 9.4 GSDME MYLIP PHACTR1 POU5F1 SOX4
28 peripheral vertigo 9.4 COCH SLC26A4
29 hodgkin's lymphoma, nodular sclerosis 9.4 GJB2 SLC26A4 STRC
30 deafness, autosomal recessive 6 9.4 GJB2 MYO7A USH2A
31 deafness, autosomal recessive 26 9.3 GJB2 OTOF SLC26A4
32 vestibular disease 9.3 COCH GJB2 SLC26A4
33 deafness, autosomal recessive 23 9.2 GJB2 MYO7A SLC26A4
34 deafness, autosomal recessive 30 9.2 GJB2 MYO7A SLC26A4
35 deafness, autosomal recessive 85 9.2 MYO7A OTOF SLC26A4 TMPRSS3 TMPRSS4
36 deafness, autosomal recessive 83 9.2 MYO7A OTOF SLC26A4 TMPRSS3 TMPRSS4
37 usher syndrome 9.2 GJB2 MYO7A USH2A
38 autosomal genetic disease 9.1 MYO7A SLC26A4 USH2A WFS1
39 autosomal recessive nonsyndromic deafness 3 8.9 GJB2 MYO7A OTOF SLC26A4
40 autosomal recessive nonsyndromic deafness 8.8 GJB2 OTOF OTOG SLC26A4 TMPRSS3
41 deafness, autosomal dominant 2a 8.7 COCH GJB2 TMPRSS3 TMPRSS4 WFS1
42 inner ear disease 8.2 COCH GJB2 MYO7A SLC26A4 WFS1
43 trehalase deficiency 8.2 EYA4 GJB2 MYO7A TMPRSS3 USH2A WFS1
44 autosomal dominant non-syndromic sensorineural deafness type dfna 8.0 CCDC50 COCH COL11A2 EYA4 GJB2 GSDME
45 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 7.9 COCH GJB2 MYO7A OTOF SLC26A4 WFS1
46 autosomal recessive non-syndromic sensorineural deafness type dfnb 7.6 COL11A2 GJB2 MYO7A OTOF OTOG OTOGL
47 auditory system disease 7.5 COCH GJB2 MYO7A OTOF SLC26A4 STRC
48 non-syndromic genetic deafness 7.2 COCH GJB2 GSDME OTOF OTOG OTOGL
49 autosomal dominant nonsyndromic deafness 7.2 CCDC50 COCH COL11A2 EYA4 GJB2 GSDME
50 deafness, autosomal recessive 16 6.7 COCH COL11A2 GJB2 MYO7A OTOF SLC26A4

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 COL11A2 EYA4 GJB2 GSDME MYO7A OTOF
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

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.3100C> T (p.Arg1034Cys) single nucleotide variant Likely pathogenic rs121912947 GRCh37 Chromosome 6, 33139540: 33139540
2 COL11A2 NM_080680.2(COL11A2): c.3100C> T (p.Arg1034Cys) single nucleotide variant Likely pathogenic rs121912947 GRCh38 Chromosome 6, 33171763: 33171763
3 COL11A2 NM_080680.2(COL11A2): c.2423G> A (p.Gly808Glu) single nucleotide variant Pathogenic rs121912948 GRCh37 Chromosome 6, 33142311: 33142311
4 COL11A2 NM_080680.2(COL11A2): c.2423G> A (p.Gly808Glu) single nucleotide variant Pathogenic rs121912948 GRCh38 Chromosome 6, 33174534: 33174534
5 COL11A2 NM_080680.2(COL11A2): c.3932A> G (p.Asn1311Ser) single nucleotide variant Uncertain significance rs727504460 GRCh37 Chromosome 6, 33136324: 33136324
6 COL11A2 NM_080680.2(COL11A2): c.3932A> G (p.Asn1311Ser) single nucleotide variant Uncertain significance rs727504460 GRCh38 Chromosome 6, 33168547: 33168547
7 COL11A2 NM_001163771.1(COL11A2): c.688G> T (p.Gly230Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs141430703 GRCh37 Chromosome 6, 33154514: 33154514
8 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 actomyosin structure organization GO:0031032 9.43 MYLIP PHACTR1
4 inner ear development GO:0048839 9.43 EYA4 GJB2 MYO7A
5 auditory receptor cell stereocilium organization GO:0060088 9.4 MYO7A STRC
6 sensory perception of light stimulus GO:0050953 9.37 MYO7A USH2A
7 L-arabinose metabolic process GO:0046373 9.16 OTOG OTOGL
8 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
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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