MCID: DFN129
MIFTS: 13

Deafness, Autosomal Dominant 8/12 malady

Genetic diseases, Ear diseases, Rare diseases, Fetal diseases, Neuronal diseases, Cardiovascular diseases categories

Summaries for Deafness, Autosomal Dominant 8/12

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MalaCards based summary: Deafness, Autosomal Dominant 8/12 and has symptoms including autosomal dominant inheritanceand sensorineural hearing impairment. 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

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Deafness, Autosomal Dominant 8/12, Aliases & Descriptions:

Name: Deafness, Autosomal Dominant 8/12 46


Classifications:



Related Diseases for Deafness, Autosomal Dominant 8/12

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Diseases in the Deafness, Autosomal Dominant 3b family:

Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Nonsyndromic Deafness Otof-Related Deafness
Deafness, Autosomal Recessive 51 Deafness, Autosomal Recessive 55
Familial Deafness 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 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 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 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 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 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 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 Recessive 102
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 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 65 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 4b
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
Susceptibility to Deafness Due to Cisplatin Treatment

Symptoms for Deafness, Autosomal Dominant 8/12

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Symptoms by clinical synopsis from OMIM:

601543

Clinical features from OMIM:

601543

HPO human phenotypes related to Deafness, Autosomal Dominant 8/12:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 sensorineural hearing impairment HP:0000407

Drugs & Therapeutics for Deafness, Autosomal Dominant 8/12

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Drug clinical trials:

Search ClinicalTrials for Deafness, Autosomal Dominant 8/12

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

Genetic Tests for Deafness, Autosomal Dominant 8/12

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Anatomical Context for Deafness, Autosomal Dominant 8/12

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

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Publications for Deafness, Autosomal Dominant 8/12

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Variations for Deafness, Autosomal Dominant 8/12

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UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 8/12:

63 (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

Clinvar genetic disease variations for Deafness, Autosomal Dominant 8/12:

7
id Gene Name Type Significance SNP ID Assembly Location
1TECTANM_005422.2(TECTA): c.5458C> T (p.Leu1820Phe)single nucleotide variantPathogenicrs281865415GRCh37Chr 11, 121037361: 121037361
2TECTANM_005422.2(TECTA): c.5609A> G (p.Tyr1870Cys)single nucleotide variantPathogenicrs121909058GRCh37Chr 11, 121038785: 121038785
3TECTANM_005422.2(TECTA): c.3169T> A (p.Cys1057Ser)single nucleotide variantPathogenicrs121909059GRCh37Chr 11, 121008357: 121008357
4TECTANM_005422.2(TECTA): c.4856G> C (p.Cys1619Ser)single nucleotide variantPathogenicrs121909060GRCh37Chr 11, 121031010: 121031010
5TECTANM_005422.2(TECTA): c.5509T> G (p.Cys1837Gly)single nucleotide variantPathogenicrs121909061GRCh37Chr 11, 121037412: 121037412
6TECTANM_005422.2(TECTA): c.6062G> A (p.Arg2021His)single nucleotide variantPathogenicrs121909062GRCh37Chr 11, 121058603: 121058603
7TECTANM_005422.2(TECTA): c.5668C> T (p.Arg1890Cys)single nucleotide variantPathogenicrs121909063GRCh37Chr 11, 121038844: 121038844
8TECTANM_005422.2(TECTA): c.5509T> C (p.Cys1837Arg)single nucleotide variantPathogenicrs121909061GRCh37Chr 11, 121037412: 121037412
9TECTATECTA, 5331G-Asingle nucleotide variantPathogenic

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

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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

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

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

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Deafness, Autosomal Dominant 8/12

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet