MCID: ATS340
MIFTS: 22

Autosomal Dominant Nonsyndromic Deafness 12

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

Aliases & Classifications for Autosomal Dominant Nonsyndromic Deafness 12

MalaCards integrated aliases for Autosomal Dominant Nonsyndromic Deafness 12:

Name: Autosomal Dominant Nonsyndromic Deafness 12 12 14
Dfna12 12 52
Dfna8 12 52
Deafness, Autosomal Dominant 12 69
Autosomal Dominant Deafness 12 12
Autosomal Dominant Deafness 8 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110544
ICD10 33 H90.3

Summaries for Autosomal Dominant Nonsyndromic Deafness 12

Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and mid-frequency hearing loss and has material basis in mutation in the TECTA gene on chromosome 11q23.

MalaCards based summary : Autosomal Dominant Nonsyndromic Deafness 12, also known as dfna12, is related to deafness, autosomal dominant 8/12 and dfna 8/12 nonsyndromic hearing loss and deafness. An important gene associated with Autosomal Dominant Nonsyndromic Deafness 12 is TECTA (Tectorin Alpha). Related phenotype is hearing/vestibular/ear.

Related Diseases for Autosomal Dominant Nonsyndromic Deafness 12

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 Autosomal Dominant Nonsyndromic Deafness 12 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
id Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 8/12 10.8
2 dfna 8/12 nonsyndromic hearing loss and deafness 10.8
3 deafness, autosomal dominant 59 9.9 OTOG TECTA
4 nonsyndromic hydrocephalus, ccdc88c-related 9.8 OTOGL TECTA
5 anal canal carcinoma 9.7 OTOG TECTA
6 x-linked nonsyndromic deafness 9.5 COL11A2 EYA4 TECTA
7 celiac disease 11 9.1 CCDC50 COL11A2 EYA4
8 discrete papular lichen myxedematosus 9.0 COL11A2 OTOG OTOGL TECTA
9 cardiomyopathy, dilated, 1j 9.0 CCDC50 COL11A2 EYA4
10 nodular lichen myxedematosus 8.8 CCDC50 COL11A2 EYA4 TECTA
11 autosomal recessive nonsyndromic deafness 8.5 COL11A2 EYA4 OTOG OTOGL TECTA
12 deafness, autosomal recessive 53 8.1 CCDC50 COL11A2 EYA4 OTOG OTOGL
13 autosomal dominant nonsyndromic deafness 6 7.7 CCDC50 COL11A2 EYA4 OTOG OTOGL TECTA

Graphical network of the top 20 diseases related to Autosomal Dominant Nonsyndromic Deafness 12:



Diseases related to Autosomal Dominant Nonsyndromic Deafness 12

Symptoms & Phenotypes for Autosomal Dominant Nonsyndromic Deafness 12

MGI Mouse Phenotypes related to Autosomal Dominant Nonsyndromic Deafness 12:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.92 COL11A2 EYA4 OTOG TECTA

Drugs & Therapeutics for Autosomal Dominant Nonsyndromic Deafness 12

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Nonsyndromic Deafness 12

Genetic Tests for Autosomal Dominant Nonsyndromic Deafness 12

Anatomical Context for Autosomal Dominant Nonsyndromic Deafness 12

Publications for Autosomal Dominant Nonsyndromic Deafness 12

Variations for Autosomal Dominant Nonsyndromic Deafness 12

ClinVar genetic disease variations for Autosomal Dominant Nonsyndromic Deafness 12:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TECTA NM_005422.2(TECTA): c.5609A> G (p.Tyr1870Cys) single nucleotide variant Pathogenic rs121909058 GRCh37 Chromosome 11, 121038785: 121038785
2 TECTA NM_005422.2(TECTA): c.3169T> A (p.Cys1057Ser) single nucleotide variant Pathogenic rs121909059 GRCh37 Chromosome 11, 121008357: 121008357
3 TECTA NM_005422.2(TECTA): c.4856G> C (p.Cys1619Ser) single nucleotide variant Pathogenic rs121909060 GRCh37 Chromosome 11, 121031010: 121031010
4 TECTA NM_005422.2(TECTA): c.5509T> G (p.Cys1837Gly) single nucleotide variant Pathogenic rs121909061 GRCh37 Chromosome 11, 121037412: 121037412
5 TECTA NM_005422.2(TECTA): c.6062G> A (p.Arg2021His) single nucleotide variant Pathogenic rs121909062 GRCh37 Chromosome 11, 121058603: 121058603
6 TECTA NM_005422.2(TECTA): c.5668C> T (p.Arg1890Cys) single nucleotide variant Pathogenic rs121909063 GRCh37 Chromosome 11, 121038844: 121038844
7 TECTA NM_005422.2(TECTA): c.5509T> C (p.Cys1837Arg) single nucleotide variant Pathogenic rs121909061 GRCh37 Chromosome 11, 121037412: 121037412
8 TECTA TECTA, 5331G-A single nucleotide variant Pathogenic
9 TECTA NM_005422.2(TECTA): c.2887G> A (p.Ala963Thr) single nucleotide variant Pathogenic rs753896285 GRCh38 Chromosome 11, 121130157: 121130157
10 TECTA NM_005422.2(TECTA): c.6017A> G (p.Asp2006Gly) single nucleotide variant Pathogenic rs878853224 GRCh38 Chromosome 11, 121187849: 121187849

Expression for Autosomal Dominant Nonsyndromic Deafness 12

Search GEO for disease gene expression data for Autosomal Dominant Nonsyndromic Deafness 12.

Pathways for Autosomal Dominant Nonsyndromic Deafness 12

GO Terms for Autosomal Dominant Nonsyndromic Deafness 12

Cellular components related to Autosomal Dominant Nonsyndromic Deafness 12 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 8.92 COL11A2 OTOG OTOGL TECTA

Biological processes related to Autosomal Dominant Nonsyndromic Deafness 12 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.1 CCDC50 COL11A2 EYA4 OTOG OTOGL TECTA
2 L-arabinose metabolic process GO:0046373 8.96 OTOG OTOGL

Molecular functions related to Autosomal Dominant Nonsyndromic Deafness 12 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.96 COL11A2 TECTA
2 alpha-L-arabinofuranosidase activity GO:0046556 8.62 OTOG OTOGL

Sources for Autosomal Dominant Nonsyndromic Deafness 12

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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