DFNA13
MCID: DFN137
MIFTS: 31

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 56 29 13 6 71
Dfna13 56 12 73
Autosomal Dominant Nonsyndromic Deafness 13 12 15
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 13 73
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 13 73
Deafness, Autosomal Dominant, Type 13 39
Deafness, Autosomal Dominant, 13 73
Autosomal Dominant Deafness 13 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
deafness, autosomal dominant 13:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110545
OMIM 56 601868
OMIM Phenotypic Series 56 PS124900
MeSH 43 D006319
ICD10 32 H90.3
MedGen 41 C1866095
SNOMED-CT via HPO 68 263681008 60700002
UMLS 71 C1866095

Summaries for Deafness, Autosomal Dominant 13

UniProtKB/Swiss-Prot : 73 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 sensorineural hearing loss and autosomal dominant non-syndromic sensorineural deafness type dfna. 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.

More information from OMIM: 601868 PS124900

Related Diseases for Deafness, Autosomal Dominant 13

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
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 32
Autosomal Recessive Nonsyndromic Deafness 36 Otof-Related Deafness
Familial Deafness

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

(show all 43)
# Related Disease Score Top Affiliating Genes
1 sensorineural hearing loss 27.9 KCNQ4 GSDME EYA4 COL11A2 COCH CEACAM16
2 autosomal dominant non-syndromic sensorineural deafness type dfna 27.5 KCNQ4 GSDME EYA4 COL11A2 COCH CEACAM16
3 nonsyndromic deafness 26.9 OTOG KCNQ4 GSDME EYA4 COL11A2 COCH
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
5 branchiootic syndrome 1 10.2
6 deafness, autosomal dominant 31 10.2
7 deafness, autosomal dominant 51 10.1 GSDME CCDC50
8 deafness, autosomal dominant 3a 10.0 GSDME COCH
9 deafness, autosomal recessive 91 10.0 GSDME COCH
10 deafness, autosomal dominant 2b 10.0 KCNQ4 GSDME
11 chronic purulent otitis media 10.0 EYA4 COCH
12 deafness, autosomal dominant 17 9.9 GSDME COCH
13 deafness, autosomal dominant 21 9.9 GSDME EYA4 COL11A2
14 deafness, autosomal dominant 11 9.9 GSDME COCH
15 deafness, autosomal dominant 2a 9.8 KCNQ4 COCH
16 hereditary hearing loss and deafness 9.8 COL11A2 COCH CCDC50
17 deafness, autosomal recessive 1a 9.8 GSDME COCH
18 deafness, autosomal recessive 66 9.7 COL11A2 CEACAM16
19 peripheral vertigo 9.7 OTOG COCH
20 deafness, autosomal dominant 44 9.6 GSDME EYA4 COL11A2 CCDC50
21 deafness, autosomal dominant 10 9.6 GSDME EYA4 COL11A2 CCDC50
22 deafness, autosomal dominant 41 9.6 KCNQ4 GSDME COCH
23 deafness, autosomal recessive 21 9.6 OTOG CEACAM16
24 deafness, autosomal dominant 64 9.6 KCNQ4 CEACAM16
25 deafness, autosomal recessive 84b 9.5 OTOG COL11A2 CEACAM16
26 otospondylomegaepiphyseal dysplasia, autosomal dominant 9.5 OTOG COL11A2 CEACAM16
27 vestibular disease 9.5 OTOG KCNQ4 COCH
28 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.5 OTOG COL11A2 CEACAM16
29 deafness, autosomal dominant 18 9.4 KCNQ4 GSDME COL11A2 COCH
30 deafness, autosomal dominant 9 9.4 KCNQ4 GSDME COL11A2 COCH
31 deafness, autosomal dominant 6 9.4 KCNQ4 GSDME COL11A2 COCH
32 deafness, autosomal dominant 15 9.4 KCNQ4 GSDME COL11A2 COCH
33 inner ear disease 9.4 KCNQ4 COCH
34 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.4 KCNQ4 GSDME COL11A2 COCH
35 deafness, autosomal dominant 28 9.3 KCNQ4 GSDME EYA4 COCH
36 non-syndromic genetic deafness 9.3 KCNQ4 COCH CEACAM16
37 auditory system disease 9.1 KCNQ4 GSDME EYA4 COL11A2 COCH
38 deafness, autosomal dominant 25 9.0 KCNQ4 GSDME COCH CEACAM16
39 rare genetic deafness 8.9 OTOG KCNQ4 GSDME EYA4 COCH
40 deafness, autosomal recessive 53 8.9 OTOG EYA4 COL11A2 CEACAM16 CCDC50
41 deafness, autosomal dominant 4b 8.7 OTOG KCNQ4 EYA4 COL11A2 CEACAM16
42 autosomal dominant nonsyndromic deafness 7.8 OTOG KCNQ4 GSDME EYA4 COL11A2 COCH
43 deafness, autosomal dominant 12 7.8 OTOG KCNQ4 GSDME EYA4 COL11A2 COCH

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

Human phenotypes related to Deafness, Autosomal Dominant 13:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 13:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.17 CEACAM16 COCH COL11A2 EYA4 GSDME KCNQ4

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:

40
Brain

Publications for Deafness, Autosomal Dominant 13

Articles related to Deafness, Autosomal Dominant 13:

(show all 22)
# Title Authors PMID Year
1
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). 61 56 6
10581026 1999
2
A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p. 61 56
9382104 1997
3
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 6
24651602 2014
4
Hereditary Hearing Loss and Deafness Overview 6
20301607 1999
5
Nonsyndromic hearing impairment: unparalleled heterogeneity. 56
9106521 1997
6
Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness. 61
27142990 2016
7
Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment. 61
26331839 2016
8
Similar phenotypes caused by mutations in OTOG and OTOGL. 61
24378291 2014
9
Audiometric characteristics of two Dutch families with non-ocular Stickler syndrome (COL11A2). 61
22796475 2012
10
Audiometric characteristics of USH2a patients. 61
19129697 2009
11
Audiological evaluation of affected members from a Dutch DFNA8/12 (TECTA) family. 61
17136632 2007
12
Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus. 61
16033917 2005
13
Fine mapping of autosomal dominant nonsyndromic hearing impairment DFNA21 to chromosome 6p24.1-22.3. 61
16007628 2005
14
Audiological characteristics of some affected members of a Dutch DFNA13/COL11A2 family. 61
15562903 2004
15
A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3. 61
14729819 2004
16
Hereditary deafness and phenotyping in humans. 61
12324385 2002
17
The phenotype of DFNA13/COL11A2. 61
12408068 2002
18
Targeted disruption of Col11a2 produces a mild cartilage phenotype in transgenic mice: comparison with the human disorder otospondylomegaepiphyseal dysplasia (OSMED). 61
11668593 2001
19
A Dutch family with progressive autosomal dominant non-syndromic sensorineural hearing impairment linked to DFNA13. 61
11559344 2001
20
Autosomal dominant inherited hearing impairment caused by a missense mutation in COL11A2 (DFNA13). 61
11177008 2001
21
The phenotype of DFNA13/COL11A2: nonsyndromic autosomal dominant mid-frequency and high-frequency sensorineural hearing impairment. 61
10733181 2000
22
Non-syndromic autosomal dominant progressive non-specific mid-frequency sensorineural hearing impairment with childhood to late adolescence onset (DFNA21). 61
10764236 2000

Variations for Deafness, Autosomal Dominant 13

ClinVar genetic disease variations for Deafness, Autosomal Dominant 13:

6 (show all 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL11A2 NM_080679.2(COL11A2):c.2102G>A (p.Gly701Glu)SNV Pathogenic 17125 rs121912948 6:33142311-33142311 6:33174534-33174534
2 COL11A2 NM_080679.2(COL11A2):c.3814C>T (p.Arg1272Ter)SNV Likely pathogenic 17127 rs121912950 6:33135082-33135082 6:33167305-33167305
3 COL11A2 NM_080679.2(COL11A2):c.2779C>T (p.Arg927Cys)SNV Likely pathogenic 17124 rs121912947 6:33139540-33139540 6:33171763-33171763
4 COL11A2 NM_080679.2(COL11A2):c.3719C>A (p.Pro1240Gln)SNV Conflicting interpretations of pathogenicity 162981 rs142890313 6:33135285-33135285 6:33167508-33167508
5 COL11A2 NM_080679.2(COL11A2):c.2600C>T (p.Ala867Val)SNV Conflicting interpretations of pathogenicity 178927 rs376797260 6:33140133-33140133 6:33172356-33172356
6 COL11A2 NM_001163771.2(COL11A2):c.688G>T (p.Gly230Trp)SNV Conflicting interpretations of pathogenicity 225318 rs141430703 6:33154514-33154514 6:33186737-33186737
7 COL11A2 NM_080679.2(COL11A2):c.3611A>G (p.Asn1204Ser)SNV Uncertain significance 178812 rs727504460 6:33136324-33136324 6:33168547-33168547
8 COL11A2 NM_080679.2(COL11A2):c.798+1585G>ASNV Uncertain significance 198609 rs139116571 6:33152819-33152819 6:33185042-33185042
9 COL11A2 NM_080679.2(COL11A2):c.2968A>C (p.Thr990Pro)SNV Uncertain significance 391897 rs138045609 6:33139071-33139071 6:33171294-33171294
10 COL11A2 NM_001163771.2(COL11A2):c.865C>T (p.Pro289Ser)SNV Uncertain significance 424385 rs772701006 6:33154337-33154337 6:33186560-33186560
11 COL11A2 NM_080679.2(COL11A2):c.97G>A (p.Asp33Asn)SNV Uncertain significance 637964 6:33157232-33157232 6:33189455-33189455

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

73
# Symbol AA change Variation ID SNP ID
1 COL11A2 p.Gly808Glu VAR_010655 rs121912948
2 COL11A2 p.Arg1034Cys VAR_010656 rs121912947

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

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

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.23 OTOG KCNQ4 GSDME EYA4 COL11A2 COCH

Sources for Deafness, Autosomal Dominant 13

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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