MCID: DFN137
MIFTS: 35

Deafness, Autosomal Dominant 13

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

Aliases & Classifications for Deafness, Autosomal Dominant 13

MalaCards integrated aliases for Deafness, Autosomal Dominant 13:

Name: Deafness, Autosomal Dominant 13 54 29 13 69
Autosomal Dominant Nonsyndromic Deafness 13 12 14
Dfna13 12 71
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 13 71
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 13 71
Deafness, Autosomal Dominant, 13 71
Autosomal Dominant Deafness 13 12

Characteristics:

OMIM:

54
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 54 601868
Disease Ontology 12 DOID:0110545
ICD10 33 H90.3
MedGen 40 C1866095
MeSH 42 D006319
SNOMED-CT via HPO 65 263681008 60700002

Summaries for Deafness, Autosomal Dominant 13

UniProtKB/Swiss-Prot : 71 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 autosomal dominant nonsyndromic deafness 13, is related to dfna13 nonsyndromic hearing loss and deafness and celiac disease 11, and has symptoms including sensorineural hearing impairment 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 hearing/vestibular/ear and nervous system

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 Recessive 96 Deafness, Autosomal Recessive 36
Deafness, Autosomal Dominant 2b Deafness, Autosomal Recessive
Deafness, Autosomal Dominant 2a Deafness, Autosomal Recessive 108
Deafness, Autosomal Recessive 32 Deafness, Autosomal Recessive 105
Deafness, Autosomal Dominant 7 Deafness, Autosomal Dominant 49
Deafness, Autosomal Recessive 45 Deafness, Autosomal Recessive 9
Deafness, Autosomal Dominant 58 Deafness, Autosomal Recessive 70
Deafness, Autosomal Dominant 43 Deafness, Autosomal Recessive 88
Deafness, Autosomal Dominant 16 Deafness, Autosomal Recessive 27
Deafness, Autosomal Recessive 59 Deafness, Autosomal Recessive 6
Deafness, Autosomal Dominant 70 Deafness, Autosomal Recessive 42
Deafness, Autosomal Dominant 18 Deafness, Autosomal Dominant 44
Deafness, Autosomal Dominant 6/14/38 Deafness, Autosomal Recessive 25
Deafness, Autosomal Dominant 27 Deafness, Autosomal Recessive 55
Deafness, Autosomal Recessive 26 Deafness, Autosomal Dominant 24
Deafness, Autosomal Recessive 49 Deafness, Autosomal Dominant 1
Deafness, Autosomal Dominant 54 Deafness, Autosomal Dominant 15
Deafness, Autosomal Dominant 52 Deafness, Autosomal Recessive 101
Deafness, Autosomal Recessive 91 Deafness, Autosomal Dominant 21
Deafness, Autosomal Recessive 104 Deafness, Autosomal Recessive 66
Deafness, Autosomal Dominant 13 Deafness, Autosomal Recessive 53
Deafness, Autosomal Dominant 31 Deafness, Autosomal Recessive 67
Deafness, Autosomal Dominant 72 Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 22 Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 66 Deafness, Autosomal Dominant 10
Deafness, Autosomal Recessive 38 Deafness, Autosomal Dominant 5
Deafness, Autosomal Recessive 44 Deafness, Autosomal Recessive 39
Deafness, Autosomal Recessive 61 Deafness, Autosomal Recessive 14
Deafness, Autosomal Recessive 17 Deafness, Autosomal Recessive 97
Deafness, Autosomal Dominant 50 Deafness, Autosomal Recessive 13
Deafness, Autosomal Recessive 71 Deafness, Autosomal Dominant 28
Deafness, Autosomal Recessive 83 Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 7 Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 51 Deafness, Autosomal Recessive 31
Deafness, Autosomal Dominant 56 Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 33 Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive 12 Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 18a Deafness Autosomal Recessive 106
Deafness, Autosomal Recessive 18b Deafness, Autosomal Dominant 59
Deafness, Autosomal Recessive 51 Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 63 Deafness, Autosomal Recessive 2
Deafness, Autosomal Dominant 11 Deafness, Autosomal Dominant 8/12
Deafness, Autosomal Recessive 21 Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 20 Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 102 Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 74 Deafness, Autosomal Recessive 84a
Deafness, Autosomal Dominant 73 Deafness, Autosomal Recessive 84b
Deafness, Autosomal Dominant 25 Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 41 Deafness, Autosomal Recessive 1a
Deafness, Autosomal Dominant 3a Deafness, Autosomal Dominant 3b
Deafness, Autosomal Recessive 1b Deafness, Autosomal Dominant 33
Deafness, Autosomal Dominant 53 Deafness, Autosomal Recessive 5
Deafness, Autosomal Dominant 9 Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 35 Deafness, Autosomal Recessive 16
Deafness, Autosomal Dominant 71 Deafness, Autosomal Recessive 48
Deafness, Autosomal Dominant 68 Deafness, Autosomal Dominant 30
Deafness , Autosomal Recessive 86 Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 40 Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 89 Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 3 Deafness, Autosomal Recessive 107
Deafness, Autosomal Dominant 20/26 Deafness, Autosomal Recessive 46
Deafness, Autosomal Recessive 77 Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 76
Deafness, Autosomal Dominant 4b Deafness, Autosomal Dominant 4a
Deafness, Autosomal Dominant 67 Deafness, Autosomal Recessive 65
Deafness, Autosomal Recessive 29 Deafness, Autosomal Recessive 8/10
Deafness, Autosomal Recessive 98 Deafness, Autosomal Dominant 17
Deafness, Autosomal Recessive 40 Deafness, Autosomal Recessive 28
Nonsyndromic Deafness Autosomal Dominant Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 47 Autosomal Recessive Nonsyndromic Deafness 8
Autosomal Dominant Nonsyndromic Deafness 12 Autosomal Dominant Nonsyndromic Deafness 20
Autosomal Dominant Nonsyndromic Deafness 6 Autosomal Dominant Nonsyndromic Deafness 69
Otof-Related Deafness

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

(show all 48)
id Related Disease Score Top Affiliating Genes
1 dfna13 nonsyndromic hearing loss and deafness 11.8
2 celiac disease 11 10.6 CCDC50 COL11A2 EYA4
3 cat eye syndrome 10.6 TMPRSS3 TMPRSS4
4 cardiomyopathy, dilated, 1j 10.6 CCDC50 COL11A2 EYA4
5 tooth agenesis, selective, 3 10.6 COCH STRC
6 autosomal dominant nonsyndromic deafness 20 10.5 STRC TMPRSS3 TMPRSS4
7 atrial fibrillation, familial, 14 10.4 TMPRSS3 TMPRSS4
8 deafness, autosomal recessive 23 10.3 COCH MYO7A
9 anal canal carcinoma 10.3 GJB2 OTOG
10 autosomal dominant nonsyndromic deafness 6 10.3 CCDC50 COL11A2 EYA4 OTOG OTOGL
11 pigmented nodular adrenocortical disease, primary, 2 10.2 GJB2 OTOF
12 developmental dysplasia of the hip 1 10.2 GJB2 OTOF
13 deafness, autosomal recessive 12 10.2 MYO7A USH2A
14 deafness, autosomal recessive 9 10.1 GJB2 OTOF
15 deafness, autosomal recessive 37 10.1 COCH MYO7A
16 birk-landau-perez syndrome 10.0 TMPRSS3 TMPRSS4
17 macrothrombocytopenia and progressive sensorineural deafness 10.0 GSDME MYO7A
18 diabetes persistent mullerian ducts 9.9 GJB2 MYO7A OTOF
19 fascioliasis 9.9 GJB2 SLC26A4
20 deafness, autosomal dominant 11 9.9 GJB2 MYO7A OTOF
21 cataract 26, multiple types 9.9 GJB2 SLC26A4
22 orofacial cleft 9.8 GJB2 OTOF OTOG TMPRSS3
23 robinow syndrome, autosomal dominant 1 9.8 GJB2 MYO7A USH2A
24 leber congenital amaurosis 14 9.8 GJB2 OTOF SLC26A4
25 x-linked nonsyndromic deafness 9.7 COCH COL11A2 EYA4 MYO7A WFS1
26 hyperphenylalaninemia, mild, non-bh4-deficient 9.7 GJB2 MYO7A SLC26A4
27 viral laryngitis 9.7 COCH GJB2 SLC26A4
28 severe combined immunodeficiency, athabascan type 9.7 GJB2 MYO7A SLC26A4
29 dyslexia 2 9.6 MYLIP PHACTR1 POU5F1 SOX4
30 bifid nose with or without anorectal and renal anomalies 9.5 MYO7A OTOF SLC26A4 TMPRSS3 TMPRSS4
31 ectodermal dysplasia 6, hair/nail type 9.5 MYO7A OTOF SLC26A4 TMPRSS3 TMPRSS4
32 lymphoplasmacytic lymphoma 9.5 MYO7A SLC26A4 USH2A WFS1
33 brugada syndrome 9.5 GJB2 MYO7A USH2A
34 autosomal recessive nonsyndromic deafness 8 9.4 GJB2 MYO7A OTOF SLC26A4
35 deafness, autosomal dominant 2a 9.3 COCH GJB2 TMPRSS3 TMPRSS4 WFS1
36 pituitary adenoma 9.3 GJB2 MYO7A SLC26A4 WFS1
37 keratosis palmoplantaris striata ii 9.1 GSDME MYLIP PHACTR1 POU5F1 SOX4
38 mixed lacrimal gland cancer 9.0 COCH GJB2 MYO7A SLC26A4 WFS1
39 dihydrolipoamide dehydrogenase deficiency 8.7 COCH GJB2 MYO7A OTOF SLC26A4 WFS1
40 narcissistic personality disorder 8.7 COCH GJB2 MYO7A OTOF SLC26A4 STRC
41 discrete papular lichen myxedematosus 8.4 COL11A2 GJB2 MYO7A OTOF OTOG OTOGL
42 nonsyndromic hydrocephalus, ccdc88c-related 8.4 COCH GJB2 GSDME OTOF OTOGL STRC
43 nodular lichen myxedematosus 8.4 CCDC50 COCH COL11A2 EYA4 GJB2 GSDME
44 microcephaly and chorioretinopathy, autosomal recessive, 3 7.7 COCH COL11A2 GJB2 MYO7A OTOF SLC26A4
45 endometritis 7.5 COCH EYA4 GJB2 GSDME MYO7A OTOF
46 congenital muscular dystrophy due to lmna mutation 7.2 COCH COL11A2 GJB2 GSDME MYO7A OTOF
47 autosomal recessive nonsyndromic deafness 6.2 COCH COL11A2 EYA4 GJB2 GSDME MYO7A
48 deafness, autosomal recessive 53 4.3 CCDC50 COCH COL11A2 EYA4 GJB2 GSDME

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:

54

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

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 13:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.7 OTOG SLC26A4 STRC TMPRSS3 USH2A COCH
2 nervous system MP:0003631 9.32 GJB2 MYO7A OTOF OTOG POU5F1 SLC26A4

Drugs & Therapeutics for Deafness, Autosomal Dominant 13

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Deafness, Autosomal Dominant 13

Genetic Tests for Deafness, Autosomal Dominant 13

Genetic tests related to Deafness, Autosomal Dominant 13:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 13 29

Anatomical Context for Deafness, Autosomal Dominant 13

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

39
Brain

Publications for Deafness, Autosomal Dominant 13

Variations for Deafness, Autosomal Dominant 13

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

71
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 COL11A2 NM_080680.2(COL11A2): c.3100C> T (p.Arg1034Cys) single nucleotide variant Pathogenic rs121912947 GRCh37 Chromosome 6, 33139540: 33139540
2 COL11A2 NM_080680.2(COL11A2): c.2423G> A (p.Gly808Glu) single nucleotide variant Pathogenic rs121912948 GRCh37 Chromosome 6, 33142311: 33142311

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:

id 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:

id 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 9.47 CCDC50 COCH COL11A2 EYA4 GJB2 MYO7A
3 actomyosin structure organization GO:0031032 9.43 MYLIP PHACTR1
4 inner ear development GO:0048839 9.43 EYA4 GJB2 MYO7A
5 sensory perception of light stimulus GO:0050953 9.4 MYO7A USH2A
6 auditory receptor cell stereocilium organization GO:0060088 9.37 MYO7A STRC
7 L-arabinose metabolic process GO:0046373 9.16 OTOG OTOGL
8 inner ear receptor cell differentiation GO:0060113 8.96 MYO7A USH2A

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

id 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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