MCID: DFN129
MIFTS: 12

Deafness, Autosomal Dominant 8/12 malady

Ear diseases category

Summaries for Deafness, Autosomal Dominant 8/12

About this section
Sources:
46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Deafness, Autosomal Dominant 8/12 An important gene associated with Deafness, Autosomal Dominant 8/12 is TECTA (tectorin alpha).

Description from OMIM:46 601543

Aliases & Classifications for Deafness, Autosomal Dominant 8/12

About this section
Sources:
46OMIM
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Ear diseases


Aliases & Descriptions:

deafness, autosomal dominant 8/12 46


Related Diseases for Deafness, Autosomal Dominant 8/12

About this section

Diseases in the Deafness, Autosomal Dominant 4b family:

Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Deafness, Autosomal Recessive 51 Deafness, Autosomal Recessive 55
Deafness, Autosomal Recessive 96 Deafness, Autosomal Recessive 36
Deafness, Autosomal Dominant 2b Deafness, Autosomal Dominant 2a
Deafness, Autosomal Recessive 32 Deafness, Autosomal Dominant 7
Deafness, Autosomal Dominant 49 Deafness, Autosomal Recessive 45
Deafness, Autosomal Recessive 9 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 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 Dominant 52 Deafness, Autosomal Recessive 26
Deafness, Autosomal Dominant 24 Deafness, Autosomal Recessive 49
Deafness, Autosomal Dominant 1 Deafness, Autosomal Dominant 15
Deafness, Autosomal Recessive 91 Deafness, Autosomal Dominant 21
Deafness, Autosomal Recessive 66 Deafness, Autosomal Dominant 13
Deafness, Autosomal Recessive 53 Deafness, Autosomal Dominant 31
Deafness, Autosomal Recessive 67 Deafness, Autosomal Dominant 22
Deafness, Autosomal Recessive 37 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 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 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 18b
Deafness, Autosomal Dominant 59 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 Dominant 48 Deafness, Autosomal Recessive 74
Deafness, Autosomal Recessive 84a 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 Recessive 48 Deafness, Autosomal Dominant 30
Deafness, Autosomal Recessive 86 Deafness, Autosomal Dominant 40
Deafness, Autosomal Recessive 22 Deafness, Autosomal Recessive 89
Deafness, Autosomal Recessive 85 Deafness, Autosomal Recessive 3
Deafness, Autosomal Dominant 20/26 Deafness, Autosomal Recessive 46
Deafness, Autosomal Recessive 77 Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 68 Deafness, Autosomal Recessive 81
Deafness, Autosomal Recessive 76 Deafness, Autosomal Dominant 4a
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

Clinical Features for Deafness, Autosomal Dominant 8/12

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

601543

Clinical synopsis from OMIM:

601543

Drugs & Therapeutics for Deafness, Autosomal Dominant 8/12

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Deafness, Autosomal Dominant 8/12

Drug clinical trials:

Search ClinicalTrials for Deafness, Autosomal Dominant 8/12

Search NIH Clinical Center for Deafness, Autosomal Dominant 8/12

Search CenterWatch for Deafness, Autosomal Dominant 8/12

Genetic Tests for Deafness, Autosomal Dominant 8/12

About this section

Anatomical Context for Deafness, Autosomal Dominant 8/12

About this section

Animal Models for Deafness, Autosomal Dominant 8/12 or affiliated genes

About this section

Publications for Deafness, Autosomal Dominant 8/12

About this section

Genetic Variations for Deafness, Autosomal Dominant 8/12

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Deafness, Autosomal Dominant 8/12:

62 (show all 29)
id Symbol AA change Variation ID SNP ID
1TECTAp.Cys1057SerVAR_018970
2TECTAp.Cys1619SerVAR_018971rs28939691
3TECTAp.Leu1820PheVAR_018973
4TECTAp.Gly1824AspVAR_018974
5TECTAp.Cys1837GlyVAR_018975
6TECTAp.Tyr1870CysVAR_018976rs28939690
7TECTAp.Arg2021HisVAR_018977
8TECTAp.Asp197AsnVAR_066076
9TECTAp.Phe211SerVAR_066077
10TECTAp.Val317GluVAR_066078
11TECTAp.Ser362CysVAR_066079
12TECTAp.Asn465LysVAR_066080
13TECTAp.Thr562MetVAR_066081
14TECTAp.Thr815MetVAR_066082
15TECTAp.Asn886SerVAR_066083
16TECTAp.Cys1036TyrVAR_066084
17TECTAp.Ala1098ValVAR_066085
18TECTAp.Asp1136HisVAR_066086rs147890616
19TECTAp.Pro1248LeuVAR_066087rs138768918
20TECTAp.Cys1509GlyVAR_066088
21TECTAp.Cys1517ArgVAR_066089
22TECTAp.Pro1791ArgVAR_066090
23TECTAp.Cys1837ArgVAR_066091
24TECTAp.Thr1866MetVAR_066092
25TECTAp.His1867ArgVAR_066093
26TECTAp.Arg1890CysVAR_066094
27TECTAp.Cys1898ArgVAR_066095
28TECTAp.Arg1947CysVAR_066096
29TECTAp.Ile2009ThrVAR_066097

Expression for genes affiliated with Deafness, Autosomal Dominant 8/12

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Deafness, Autosomal Dominant 8/12

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 8/12.

Pathways for genes affiliated with Deafness, Autosomal Dominant 8/12

About this section

Compounds for genes affiliated with Deafness, Autosomal Dominant 8/12

About this section

GO Terms for genes affiliated with Deafness, Autosomal Dominant 8/12

About this section

Products for genes affiliated with Deafness, Autosomal Dominant 8/12

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Deafness, Autosomal Dominant 8/12

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet