MCID: DFN353
MIFTS: 36

Deafness, Autosomal Dominant 12

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

Aliases & Classifications for Deafness, Autosomal Dominant 12

MalaCards integrated aliases for Deafness, Autosomal Dominant 12:

Name: Deafness, Autosomal Dominant 12 57 29 6 73
Dfna12 57 12 75 55
Dfna8 57 12 75 55
Autosomal Dominant Nonsyndromic Deafness 12 12 15
Deafness, Autosomal Dominant 8/12 57 13
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 12 75
Deafness, Autosomal Dominant 8; Dfna8 57
Deafness, Autosomal Dominant, Type 12 40
Deafness, Autosomal Dominant, 12 75
Deafness, Autosomal Dominant 8 57
Autosomal Dominant Deafness 12 12
Autosomal Dominant Deafness 8 12
Deafness Autosomal Dominant 8 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset may be prelingual or in childhood
hearing loss may be stable or progressive
allelic disorder to autosomal recessive deafness 21 (dfnb21, )


HPO:

32
deafness, autosomal dominant 12:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 601543
Disease Ontology 12 DOID:0110544
ICD10 33 H90.3
MedGen 42 C1832187
MeSH 44 D006319
SNOMED-CT via HPO 69 263681008 60700002
UMLS 73 C1832187

Summaries for Deafness, Autosomal Dominant 12

UniProtKB/Swiss-Prot : 75 Deafness, autosomal dominant, 12: 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 12, also known as dfna12, is related to deafness, autosomal recessive 18b and deafness, autosomal recessive 21. An important gene associated with Deafness, Autosomal Dominant 12 is TECTA (Tectorin Alpha). The drugs Cyclophosphamide and Epirubicin have been mentioned in the context of this disorder. Affiliated tissues include brain and breast, and related phenotypes are sensorineural hearing impairment and Decreased shRNA abundance (Z-score < -2)

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.

Description from OMIM: 601543

Related Diseases for Deafness, Autosomal Dominant 12

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 12 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 18b 10.0 OTOG TECTA
2 deafness, autosomal recessive 21 10.0 OTOG TECTA
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
4 deafness, autosomal dominant 44 9.7 CCDC50 COL11A2
5 deafness, autosomal dominant 10 9.6 CCDC50 COL11A2
6 deafness, autosomal dominant 6 9.0 COL11A2 GSDME
7 autosomal recessive non-syndromic sensorineural deafness type dfnb 8.7 COL11A2 OTOG OTOGL TECTA
8 autosomal dominant non-syndromic sensorineural deafness type dfna 8.5 CCDC50 COL11A2 GSDME TECTA
9 non-syndromic genetic deafness 8.5 GSDME OTOG OTOGL TECTA
10 nonsyndromic deafness 7.8 COL11A2 GSDME OTOG OTOGL TECTA
11 deafness, autosomal dominant 13 7.7 CCDC50 COL11A2 GSDME OTOG OTOGL
12 autosomal dominant nonsyndromic deafness 7.3 CCDC50 COL11A2 GSDME OTOG OTOGL TECTA

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



Diseases related to Deafness, Autosomal Dominant 12

Symptoms & Phenotypes for Deafness, Autosomal Dominant 12

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, sensorineural
affects mid- to high-frequencies
u-shaped audiogram


Clinical features from OMIM:

601543

Human phenotypes related to Deafness, Autosomal Dominant 12:

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

GenomeRNAi Phenotypes related to Deafness, Autosomal Dominant 12 according to GeneCards Suite gene sharing:

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.5 GSDME
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 9.5 GSDME
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.5 TECTA
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-171 9.5 TECTA
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.5 GSDME
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.5 GSDME
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.5 GSDME
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.5 TECTA
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 9.5 GSDME
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 9.5 GSDME
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.5 TECTA
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-62 9.5 GSDME
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.5 TECTA GSDME
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 9.5 GSDME

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 12:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.92 COL11A2 GSDME OTOG TECTA

Drugs & Therapeutics for Deafness, Autosomal Dominant 12

Drugs for Deafness, Autosomal Dominant 12 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Not Applicable 50-18-0, 6055-19-2 2907
2
Epirubicin Approved Not Applicable 56420-45-2 41867
3
Paclitaxel Approved, Vet_approved Not Applicable 33069-62-4 36314
4 Albumin-Bound Paclitaxel Not Applicable
5 Antimitotic Agents Not Applicable
6 Antineoplastic Agents, Phytogenic Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Paclitaxol Every 2 Week Versus Paclitaxol Every 1 Week in the Adjuvant Treatment of Breast Cancer Not yet recruiting NCT01848197 Not Applicable paclitaxel

Search NIH Clinical Center for Deafness, Autosomal Dominant 12

Genetic Tests for Deafness, Autosomal Dominant 12

Genetic tests related to Deafness, Autosomal Dominant 12:

# Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 12 29 TECTA

Anatomical Context for Deafness, Autosomal Dominant 12

MalaCards organs/tissues related to Deafness, Autosomal Dominant 12:

41
Brain, Breast

Publications for Deafness, Autosomal Dominant 12

Variations for Deafness, Autosomal Dominant 12

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 12:

75 (show all 29)
# Symbol AA change Variation ID SNP ID
1 TECTA p.Cys1057Ser VAR_018970 rs121909059
2 TECTA p.Cys1619Ser VAR_018971 rs121909060
3 TECTA p.Leu1820Phe VAR_018973 rs281865415
4 TECTA p.Gly1824Asp VAR_018974 rs267607107
5 TECTA p.Cys1837Gly VAR_018975 rs121909061
6 TECTA p.Tyr1870Cys VAR_018976 rs121909058
7 TECTA p.Arg2021His VAR_018977 rs121909062
8 TECTA p.Asp197Asn VAR_066076
9 TECTA p.Phe211Ser VAR_066077
10 TECTA p.Val317Glu VAR_066078
11 TECTA p.Ser362Cys VAR_066079 rs779123206
12 TECTA p.Asn465Lys VAR_066080
13 TECTA p.Thr562Met VAR_066081 rs779401654
14 TECTA p.Thr815Met VAR_066082 rs111759871
15 TECTA p.Asn886Ser VAR_066083 rs146175803
16 TECTA p.Cys1036Tyr VAR_066084 rs772606235
17 TECTA p.Ala1098Val VAR_066085 rs761524812
18 TECTA p.Asp1136His VAR_066086 rs147890616
19 TECTA p.Pro1248Leu VAR_066087 rs138768918
20 TECTA p.Cys1509Gly VAR_066088
21 TECTA p.Cys1517Arg VAR_066089
22 TECTA p.Pro1791Arg VAR_066090 rs754213928
23 TECTA p.Cys1837Arg VAR_066091 rs121909061
24 TECTA p.Thr1866Met VAR_066092 rs140236996
25 TECTA p.His1867Arg VAR_066093
26 TECTA p.Arg1890Cys VAR_066094 rs121909063
27 TECTA p.Cys1898Arg VAR_066095
28 TECTA p.Arg1947Cys VAR_066096
29 TECTA p.Ile2009Thr VAR_066097

ClinVar genetic disease variations for Deafness, Autosomal Dominant 12:

6
(show all 27)
# 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.5609A> G (p.Tyr1870Cys) single nucleotide variant Pathogenic rs121909058 GRCh38 Chromosome 11, 121168076: 121168076
3 TECTA NM_005422.2(TECTA): c.3169T> A (p.Cys1057Ser) single nucleotide variant Pathogenic rs121909059 GRCh37 Chromosome 11, 121008357: 121008357
4 TECTA NM_005422.2(TECTA): c.3169T> A (p.Cys1057Ser) single nucleotide variant Pathogenic rs121909059 GRCh38 Chromosome 11, 121137648: 121137648
5 TECTA NM_005422.2(TECTA): c.4856G> C (p.Cys1619Ser) single nucleotide variant Pathogenic rs121909060 GRCh37 Chromosome 11, 121031010: 121031010
6 TECTA NM_005422.2(TECTA): c.4856G> C (p.Cys1619Ser) single nucleotide variant Pathogenic rs121909060 GRCh38 Chromosome 11, 121160301: 121160301
7 TECTA NM_005422.2(TECTA): c.5509T> G (p.Cys1837Gly) single nucleotide variant Pathogenic rs121909061 GRCh37 Chromosome 11, 121037412: 121037412
8 TECTA NM_005422.2(TECTA): c.5509T> G (p.Cys1837Gly) single nucleotide variant Pathogenic rs121909061 GRCh38 Chromosome 11, 121166703: 121166703
9 TECTA NM_005422.2(TECTA): c.5668C> T (p.Arg1890Cys) single nucleotide variant Pathogenic rs121909063 GRCh37 Chromosome 11, 121038844: 121038844
10 TECTA NM_005422.2(TECTA): c.5668C> T (p.Arg1890Cys) single nucleotide variant Pathogenic rs121909063 GRCh38 Chromosome 11, 121168135: 121168135
11 TECTA NM_005422.2(TECTA): c.5509T> C (p.Cys1837Arg) single nucleotide variant Pathogenic rs121909061 GRCh37 Chromosome 11, 121037412: 121037412
12 TECTA NM_005422.2(TECTA): c.5509T> C (p.Cys1837Arg) single nucleotide variant Pathogenic rs121909061 GRCh38 Chromosome 11, 121166703: 121166703
13 TECTA TECTA, 5331G-A single nucleotide variant Pathogenic
14 TECTA NM_005422.2(TECTA): c.4384C> T (p.Arg1462Cys) single nucleotide variant Uncertain significance rs727503462 GRCh37 Chromosome 11, 121028628: 121028628
15 TECTA NM_005422.2(TECTA): c.4384C> T (p.Arg1462Cys) single nucleotide variant Uncertain significance rs727503462 GRCh38 Chromosome 11, 121157919: 121157919
16 TECTA NM_005422.2(TECTA): c.1685C> T (p.Thr562Met) single nucleotide variant Uncertain significance rs779401654 GRCh38 Chromosome 11, 121125783: 121125783
17 TECTA NM_005422.2(TECTA): c.1685C> T (p.Thr562Met) single nucleotide variant Uncertain significance rs779401654 GRCh37 Chromosome 11, 120996492: 120996492
18 TECTA NM_005422.2(TECTA): c.2887G> A (p.Ala963Thr) single nucleotide variant Pathogenic rs753896285 GRCh38 Chromosome 11, 121130157: 121130157
19 TECTA NM_005422.2(TECTA): c.2887G> A (p.Ala963Thr) single nucleotide variant Pathogenic rs753896285 GRCh37 Chromosome 11, 121000866: 121000866
20 TECTA NM_005422.2(TECTA): c.5597C> T (p.Thr1866Met) single nucleotide variant Conflicting interpretations of pathogenicity rs140236996 GRCh38 Chromosome 11, 121168064: 121168064
21 TECTA NM_005422.2(TECTA): c.5597C> T (p.Thr1866Met) single nucleotide variant Conflicting interpretations of pathogenicity rs140236996 GRCh37 Chromosome 11, 121038773: 121038773
22 TECTA NM_005422.2(TECTA): c.6017A> G (p.Asp2006Gly) single nucleotide variant Pathogenic rs878853224 GRCh38 Chromosome 11, 121187849: 121187849
23 TECTA NM_005422.2(TECTA): c.6017A> G (p.Asp2006Gly) single nucleotide variant Pathogenic rs878853224 GRCh37 Chromosome 11, 121058558: 121058558
24 TECTA NM_005422.2(TECTA): c.3854G> C (p.Cys1285Ser) single nucleotide variant Uncertain significance rs1060499597 GRCh37 Chromosome 11, 121016574: 121016574
25 TECTA NM_005422.2(TECTA): c.3854G> C (p.Cys1285Ser) single nucleotide variant Uncertain significance rs1060499597 GRCh38 Chromosome 11, 121145865: 121145865
26 TECTA NM_005422.2(TECTA): c.1893C> A (p.Cys631Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 120998579: 120998579
27 TECTA NM_005422.2(TECTA): c.1893C> A (p.Cys631Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 121127870: 121127870

Expression for Deafness, Autosomal Dominant 12

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

Pathways for Deafness, Autosomal Dominant 12

GO Terms for Deafness, Autosomal Dominant 12

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

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

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

# Name GO ID Score Top Affiliating Genes
1 adult locomotory behavior GO:0008344 9.16 OTOG OTOGL
2 sensory perception of sound GO:0007605 9.1 CCDC50 COL11A2 GSDME OTOG OTOGL TECTA
3 L-arabinose metabolic process GO:0046373 8.96 OTOG OTOGL

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

# 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 Deafness, Autosomal Dominant 12

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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