DFNA12
MCID: DFN353
MIFTS: 38

Deafness, Autosomal Dominant 12 (DFNA12)

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

Aliases & Classifications for Deafness, Autosomal Dominant 12

MalaCards integrated aliases for Deafness, Autosomal Dominant 12:

Name: Deafness, Autosomal Dominant 12 57 29 6 70
Dfna12 57 12 72 54
Dfna8 57 12 72 54
Autosomal Dominant Nonsyndromic Deafness 12 12 15
Deafness, Autosomal Dominant 8/12 57 13
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 12 72
Deafness, Autosomal Dominant 8; Dfna8 57
Deafness, Autosomal Dominant, Type 12 39
Deafness, Autosomal Dominant, 12 72
Deafness, Autosomal Dominant 8 57
Autosomal Dominant Deafness 12 12
Autosomal Dominant Deafness 8 12
Deafness Autosomal Dominant 8 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
deafness, autosomal dominant 12:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110544
OMIM® 57 601543
OMIM Phenotypic Series 57 PS124900
MeSH 44 D006319
ICD10 32 H90.3
MedGen 41 C1832187
SNOMED-CT via HPO 68 263681008 60700002
UMLS 70 C1832187

Summaries for Deafness, Autosomal Dominant 12

UniProtKB/Swiss-Prot : 72 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 branchiootic syndrome 1 and deafness, autosomal dominant 11. An important gene associated with Deafness, Autosomal Dominant 12 is TECTA (Tectorin Alpha), and among its related pathways/superpathways is Post-translational modification- synthesis of GPI-anchored proteins. Related phenotypes are sensorineural hearing impairment and hearing/vestibular/ear

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.

More information from OMIM: 601543 PS124900

Related Diseases for Deafness, Autosomal Dominant 12

Diseases in the Rare Deafness family:

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 Deafness, Autosomal Dominant 75
Deafness, Autosomal Dominant 76 Deafness, Autosomal Dominant 77
Deafness, Autosomal Dominant 78 Deafness, Autosomal Dominant 79
Deafness, Autosomal Recessive 116 Deafness, Autosomal Recessive 117
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
Autosomal Dominant Nonsyndromic Deafness 78 Autosomal Dominant Nonsyndromic Deafness 79
Autosomal Recessive Nonsyndromic Deafness 116 Autosomal Dominant Nonsyndromic Deafness 74
Autosomal Dominant Nonsyndromic Deafness 75 Autosomal Dominant Nonsyndromic Deafness 76
Autosomal Dominant Nonsyndromic Deafness 77 Nonsyndromic Deafness
Otof-Related Deafness Familial Deafness

Diseases related to Deafness, Autosomal Dominant 12 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 1 30.1 TECTA TBCEL-TECTA OTOG
2 deafness, autosomal dominant 11 29.9 POU4F3 GSDME COL11A2
3 deafness, autosomal dominant 13 29.1 ZAN TECTA KCNQ4 GSDME EYA4 COL11A2
4 nonsyndromic hearing loss 28.6 TECTA TBCEL-TECTA POU4F3 KCNQ4 GJB3 EYA4
5 autosomal dominant non-syndromic sensorineural deafness type dfna 28.0 TECTA TBCEL-TECTA STRC POU4F3 KCNQ4 GSDME
6 deafness, autosomal recessive 21 27.9 ZAN TECTB TECTA TBCEL-TECTA OTOGL OTOG
7 rare genetic deafness 27.5 TECTA TBCEL-TECTA STRC OTOGL OTOG OTOA
8 sensorineural hearing loss 26.6 TECTB TECTA TBCEL-TECTA STRC POU4F3 OTOGL
9 deafness, autosomal dominant 31 10.3 ZAN TECTA
10 deafness, autosomal dominant 49 10.3 ZAN TECTA
11 deafness, autosomal recessive 113 10.2 TECTB CEACAM16
12 deafness, autosomal dominant 43 10.2 POU4F3 CCDC50
13 nonsyndromic deafness 10.1 OTOG KCNQ4 COL11A2
14 stickler syndrome 10.1 TECTB TECTA COL11A2
15 deafness, autosomal dominant 64 10.1 KCNQ4 CEACAM16
16 deafness, autosomal dominant 50 10.1 POU4F3 CCDC50
17 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
18 benign paroxysmal positional nystagmus 10.0 TECTA OTOGL OTOG
19 y-linked deafness 10.0 STRC GSDME
20 deafness, autosomal dominant 36 10.0 KCNQ4 GSDME
21 deafness, autosomal dominant 3a 10.0 GSDME GJB3
22 deafness, autosomal dominant 41 10.0 POU4F3 KCNQ4 GSDME
23 deafness, autosomal dominant 20 10.0 POU4F3 KCNQ4 GSDME
24 deafness, autosomal dominant 28 10.0 KCNQ4 GSDME EYA4
25 non-syndromic genetic deafness 10.0 TECTA TBCEL-TECTA KCNQ4 CEACAM16
26 deafness, autosomal dominant 24 10.0 POU4F3 GJB3 CCDC50
27 autosomal recessive nonsyndromic deafness 10.0 TECTA STRC OTOG
28 peripheral vertigo 9.9 OTOG KCNQ4
29 deafness, autosomal recessive 61 9.9 TECTA OTOA
30 otospondylomegaepiphyseal dysplasia, autosomal dominant 9.9 TECTB TECTA OTOG COL11A2 CEACAM16
31 deafness, autosomal recessive 2 9.9
32 x-linked nonsyndromic deafness 9.9 POU4F3 GJB3
33 deafness, autosomal recessive 28 9.9 TECTA OTOA
34 deafness, autosomal dominant 18 9.9 POU4F3 KCNQ4 GSDME CCDC50
35 deafness, autosomal dominant 25 9.9 POU4F3 KCNQ4 CEACAM16 CCDC50
36 usher syndrome, type id 9.9 TECTB TECTA STRC OTOG
37 deafness, autosomal dominant 21 9.9 ZAN TECTA GSDME EYA4 COL11A2
38 y-linked monogenic disease 9.8 STRC KCNQ4 GSDME
39 meniere disease 9.8 OTOG KCNQ4
40 deafness, autosomal dominant 4b 9.8 TECTB TECTA OTOGL OTOG CEACAM16
41 deafness, autosomal recessive 1b 9.8 STRC GJB3 CEACAM16
42 deafness, autosomal dominant 6 9.8 TECTA POU4F3 KCNQ4 GSDME COL11A2
43 deafness, autosomal dominant 2b 9.8 POU4F3 KCNQ4 GJB3 CCDC50
44 deafness, autosomal dominant 2a 9.7 POU4F3 KCNQ4 GJB3 CCDC50
45 deafness, x-linked 2 9.7 STRC POU4F3 GJB3
46 deafness, autosomal recessive 18b 9.7 TECTA STRC OTOGL OTOG
47 deafness, autosomal dominant 15 9.7 POU4F3 KCNQ4 GSDME COL11A2 CCDC50
48 deafness, autosomal recessive 39 9.7 STRC OTOA
49 deafness, autosomal dominant 3b 9.7 OTOA GJB3 CEACAM16
50 deafness, autosomal recessive 91 9.7 OTOA GSDME GJB3

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

Human phenotypes related to Deafness, Autosomal Dominant 12:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Ears:
hearing loss, sensorineural
affects mid- to high-frequencies
u-shaped audiogram

Clinical features from OMIM®:

601543 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Deafness, Autosomal Dominant 12:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.44 CEACAM16 COL11A2 EYA4 GJB3 GSDME KCNQ4

Drugs & Therapeutics for Deafness, Autosomal Dominant 12

Search Clinical Trials , 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

Publications for Deafness, Autosomal Dominant 12

Articles related to Deafness, Autosomal Dominant 12:

(show all 27)
# Title Authors PMID Year
1
Alpha-tectorin involvement in hearing disabilities: one gene--two phenotypes. 57 6 54 61
10987647 1999
2
Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment. 61 57 6 54
9590290 1998
3
A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation. 57 6 54
16718611 2006
4
Audioprofiling identifies TECTA and GJB2-related deafness segregating in a single extended pedigree. 57 6
17661817 2007
5
A cysteine substitution in the zona pellucida domain of alpha-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family. 57 6
11333869 2001
6
Mutation in the zonadhesin-like domain of alpha-tectorin associated with autosomal dominant non-syndromic hearing loss. 6 61 54
10196713 1999
7
DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss. 6 61
21520338 2011
8
Two novel missense mutations in the TECTA gene in Korean families with autosomal dominant nonsyndromic hearing loss. 6 61
20947814 2010
9
Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer. 6 54
18575463 2008
10
An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. 54 57
9949200 1999
11
Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family. 61 57
9718342 1998
12
A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24. 57 61
9150164 1997
13
TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion. 6
22718023 2012
14
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families. 6
21917145 2011
15
Association of clinical features with mutation of TECTA in a family with autosomal dominant hearing loss. 6
12162770 2002
16
Nonsyndromic hearing impairment: unparalleled heterogeneity. 57
9106521 1997
17
A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations. 54 61
15319541 2004
18
Mapping of the alpha-tectorin gene (TECTA) to mouse chromosome 9 and human chromosome 11: a candidate for human autosomal dominant nonsyndromic deafness. 61 54
9503015 1998
19
Autosomal-dominant, prelingual, nonprogressive sensorineural hearing loss: localization of the gene (DFNA8) to chromosome 11q by linkage in an Austrian family. 61 54
9763681 1998
20
Aberrant transcript produced by a splice donor site deletion in the TECTA gene is associated with autosomal dominant deafness in a Brazilian family. 61
22995349 2012
21
Flat threshold and mid-frequency hearing impairment in a Dutch DFNA8/12 family with a novel mutation in TECTA. Some evidence for protection of the inner ear. 54
19005249 2009
22
Characterization of a spontaneous, recessive, missense mutation arising in the Tecta gene. 54
18452040 2008
23
Audiological evaluation of affected members from a Dutch DFNA8/12 (TECTA) family. 54
17136632 2007
24
[An analysis of a large hereditary postlingually deaf families and detecting mutation of the deafness genes]. 61
15510726 2002
25
Clinical presentation of DFNA8-DFNA12. 61
12408064 2002
26
Audiometric characterization of a family with digenic autosomal, dominant, progressive sensorineural hearing loss. 61
10779186 2000
27
A new autosomal-dominant locus (DFNA12) is responsible for a nonsyndromic, midfrequency, prelingual and nonprogressive sensorineural hearing loss. 61
9831143 1998

Variations for Deafness, Autosomal Dominant 12

ClinVar genetic disease variations for Deafness, Autosomal Dominant 12:

6 (show top 50) (show all 180)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.5609A>G (p.Tyr1870Cys) SNV Pathogenic 7014 rs121909058 GRCh37: 11:121038785-121038785
GRCh38: 11:121168076-121168076
2 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.3169T>A (p.Cys1057Ser) SNV Pathogenic 7016 rs121909059 GRCh37: 11:121008357-121008357
GRCh38: 11:121137648-121137648
3 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.4856G>C (p.Cys1619Ser) SNV Pathogenic 7017 rs121909060 GRCh37: 11:121031010-121031010
GRCh38: 11:121160301-121160301
4 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.5509T>G (p.Cys1837Gly) SNV Pathogenic 7020 rs121909061 GRCh37: 11:121037412-121037412
GRCh38: 11:121166703-121166703
5 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.5509T>C (p.Cys1837Arg) SNV Pathogenic 7023 rs121909061 GRCh37: 11:121037412-121037412
GRCh38: 11:121166703-121166703
6 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.6017A>G (p.Asp2006Gly) SNV Pathogenic 236033 rs878853224 GRCh37: 11:121058558-121058558
GRCh38: 11:121187849-121187849
7 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.2887G>A (p.Ala963Thr) SNV Pathogenic 236059 rs753896285 GRCh37: 11:121000866-121000866
GRCh38: 11:121130157-121130157
8 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.5331G>A (p.Leu1777=) SNV Pathogenic 7024 rs1591462832 GRCh37: 11:121036040-121036040
GRCh38: 11:121165331-121165331
9 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.6062G>A (p.Arg2021His) SNV Pathogenic 7021 rs121909062 GRCh37: 11:121058603-121058603
GRCh38: 11:121187894-121187894
10 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.5668C>T (p.Arg1890Cys) SNV Pathogenic 7022 rs121909063 GRCh37: 11:121038844-121038844
GRCh38: 11:121168135-121168135
11 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.2139C>A (p.Cys713Ter) SNV Pathogenic 505476 rs768295360 GRCh37: 11:120998825-120998825
GRCh38: 11:121128116-121128116
12 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.5597C>T (p.Thr1866Met) SNV Pathogenic 236058 rs140236996 GRCh37: 11:121038773-121038773
GRCh38: 11:121168064-121168064
13 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.5458C>T (p.Leu1820Phe) SNV Pathogenic 7013 rs281865415 GRCh37: 11:121037361-121037361
GRCh38: 11:121166652-121166652
14 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.5977C>T (p.Arg1993Ter) SNV Pathogenic 228404 rs760574657 GRCh37: 11:121039612-121039612
GRCh38: 11:121168903-121168903
15 TBCEL-TECTA , TECTA NM_005422.4(TECTA):c.5622_5623del (p.Trp1875fs) Microsatellite Pathogenic 1034176 GRCh37: 11:121038796-121038797
GRCh38: 11:121168087-121168088
16 TBCEL-TECTA , TECTA NM_005422.4(TECTA):c.5510G>A (p.Cys1837Tyr) SNV Likely pathogenic 1027366 GRCh37: 11:121037413-121037413
GRCh38: 11:121166704-121166704
17 TBCEL-TECTA , TECTA NM_005422.4(TECTA):c.6061C>T (p.Arg2021Cys) SNV Likely pathogenic 930525 GRCh37: 11:121058602-121058602
GRCh38: 11:121187893-121187893
18 TBCEL-TECTA , TECTA NM_005422.4(TECTA):c.5539T>C (p.Ser1847Pro) SNV Likely pathogenic 869465 GRCh37: 11:121037442-121037442
GRCh38: 11:121166733-121166733
19 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.4384C>T (p.Arg1462Cys) SNV Uncertain significance 165364 rs727503462 GRCh37: 11:121028628-121028628
GRCh38: 11:121157919-121157919
20 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.2077G>A (p.Gly693Arg) SNV Uncertain significance 229293 rs200502160 GRCh37: 11:120998763-120998763
GRCh38: 11:121128054-121128054
21 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.915C>T (p.Cys305=) SNV Uncertain significance 178531 rs367974065 GRCh37: 11:120989139-120989139
GRCh38: 11:121118430-121118430
22 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.4481T>C (p.Val1494Ala) SNV Uncertain significance 180103 rs200544452 GRCh37: 11:121028725-121028725
GRCh38: 11:121158016-121158016
23 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.4441A>G (p.Ser1481Gly) SNV Uncertain significance 303026 rs201946991 GRCh37: 11:121028685-121028685
GRCh38: 11:121157976-121157976
24 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.2827C>A (p.Leu943Met) SNV Uncertain significance 165358 rs139158022 GRCh37: 11:121000806-121000806
GRCh38: 11:121130097-121130097
25 TBCEL-TECTA , TECTA NM_005422.4(TECTA):c.552C>T (p.Tyr184=) SNV Uncertain significance 877514 GRCh37: 11:120983846-120983846
GRCh38: 11:121113137-121113137
26 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.2657A>G (p.Asn886Ser) SNV Uncertain significance 229296 rs146175803 GRCh37: 11:121000636-121000636
GRCh38: 11:121129927-121129927
27 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.4813G>A (p.Val1605Ile) SNV Uncertain significance 228000 rs201952240 GRCh37: 11:121030967-121030967
GRCh38: 11:121160258-121160258
28 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.3317G>A (p.Gly1106Asp) SNV Uncertain significance 229298 rs144844263 GRCh37: 11:121008505-121008505
GRCh38: 11:121137796-121137796
29 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.1685C>T (p.Thr562Met) SNV Uncertain significance 225485 rs779401654 GRCh37: 11:120996492-120996492
GRCh38: 11:121125783-121125783
30 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.3406G>C (p.Asp1136His) SNV Uncertain significance 165360 rs147890616 GRCh37: 11:121008594-121008594
GRCh38: 11:121137885-121137885
31 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.3406G>C (p.Asp1136His) SNV Uncertain significance 165360 rs147890616 GRCh37: 11:121008594-121008594
GRCh38: 11:121137885-121137885
32 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.2088C>T (p.Cys696=) SNV Uncertain significance 502103 rs368288093 GRCh37: 11:120998774-120998774
GRCh38: 11:121128065-121128065
33 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.2184C>T (p.Ser728=) SNV Uncertain significance 227990 rs148638616 GRCh37: 11:120998870-120998870
GRCh38: 11:121128161-121128161
34 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.3619G>A (p.Val1207Met) SNV Uncertain significance 229299 rs746231346 GRCh37: 11:121016339-121016339
GRCh38: 11:121145630-121145630
35 TBCEL-TECTA , TECTA NM_005422.4(TECTA):c.850C>T (p.Arg284Cys) SNV Uncertain significance 879126 GRCh37: 11:120989074-120989074
GRCh38: 11:121118365-121118365
36 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.1502C>T (p.Ser501Phe) SNV Uncertain significance 178535 rs148426950 GRCh37: 11:120996309-120996309
GRCh38: 11:121125600-121125600
37 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.2945T>C (p.Leu982Pro) SNV Uncertain significance 45324 rs141616288 GRCh37: 11:121008133-121008133
GRCh38: 11:121137424-121137424
38 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.3743C>T (p.Pro1248Leu) SNV Uncertain significance 403527 rs138768918 GRCh37: 11:121016463-121016463
GRCh38: 11:121145754-121145754
39 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.5808C>T (p.Leu1936=) SNV Uncertain significance 228002 rs377039794 GRCh37: 11:121039443-121039443
GRCh38: 11:121168734-121168734
40 TBCEL-TECTA , TECTA NM_005422.4(TECTA):c.4932C>A (p.Ser1644Arg) SNV Uncertain significance 932015 GRCh37: 11:121031086-121031086
GRCh38: 11:121160377-121160377
41 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.3769G>A (p.Gly1257Ser) SNV Uncertain significance 178822 rs727504469 GRCh37: 11:121016489-121016489
GRCh38: 11:121145780-121145780
42 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.4085G>A (p.Trp1362Ter) SNV Uncertain significance 498538 rs199638531 GRCh37: 11:121016805-121016805
GRCh38: 11:121146096-121146096
43 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.5836T>C (p.Tyr1946His) SNV Uncertain significance 165370 rs144343770 GRCh37: 11:121039471-121039471
GRCh38: 11:121168762-121168762
44 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.4317A>C (p.Leu1439=) SNV Uncertain significance 742069 rs146742726 GRCh37: 11:121028561-121028561
GRCh38: 11:121157852-121157852
45 TBCEL-TECTA , TECTA NM_005422.4(TECTA):c.4901T>C (p.Val1634Ala) SNV Uncertain significance 877779 GRCh37: 11:121031055-121031055
GRCh38: 11:121160346-121160346
46 TBCEL-TECTA , TECTA NM_005422.4(TECTA):c.3126G>A (p.Gly1042=) SNV Uncertain significance 880464 GRCh37: 11:121008314-121008314
GRCh38: 11:121137605-121137605
47 TBCEL-TECTA , TECTA NM_005422.4(TECTA):c.1796G>C (p.Ser599Thr) SNV Uncertain significance 869464 GRCh37: 11:120998482-120998482
GRCh38: 11:121127773-121127773
48 TBCEL-TECTA , TECTA NM_005422.4(TECTA):c.1498G>A (p.Asp500Asn) SNV Uncertain significance 879177 GRCh37: 11:120996305-120996305
GRCh38: 11:121125596-121125596
49 TBCEL-TECTA , TECTA NM_005422.4(TECTA):c.2327A>T (p.Gln776Leu) SNV Uncertain significance 879227 GRCh37: 11:120999013-120999013
GRCh38: 11:121128304-121128304
50 TBCEL-TECTA , TECTA NM_005422.4(TECTA):c.2889C>A (p.Ala963=) SNV Uncertain significance 879283 GRCh37: 11:121000868-121000868
GRCh38: 11:121130159-121130159

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

72 (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 rs142859879
29 TECTA p.Ile2009Thr VAR_066097

Expression for Deafness, Autosomal Dominant 12

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

Pathways for Deafness, Autosomal Dominant 12

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.79 TECTB TECTA OTOA

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 9.56 TECTB TECTA OTOGL OTOG OTOA NID1
2 anchored component of membrane GO:0031225 9.43 TECTB TECTA OTOA
3 stereocilium tip GO:0032426 9.16 STRC CEACAM16
4 extracellular matrix GO:0031012 9.1 ZAN TECTA OTOGL OTOG NID1 COL11A2

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

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.4 TECTA STRC POU4F3 OTOGL OTOG OTOA
2 cell-matrix adhesion GO:0007160 9.35 TECTA TBCEL-TECTA STRC OTOA NID1
3 inner ear receptor cell differentiation GO:0060113 9.26 POU4F3 GSDME
4 L-arabinose metabolic process GO:0046373 9.16 OTOGL OTOG

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 9.26 TECTB TECTA NID1 COL11A2
2 alpha-L-arabinofuranosidase activity GO:0046556 8.62 OTOGL OTOG

Sources for Deafness, Autosomal Dominant 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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