MCID: DFN129
MIFTS: 25

Deafness, Autosomal Dominant 8/12 malady

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

Aliases & Classifications for Deafness, Autosomal Dominant 8/12

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

Name: Deafness, Autosomal Dominant 8/12 49 11
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 12 67
Deafness, Autosomal Dominant, 12 67
Deafness, Autosomal Dominant 12 24
 
Deafness Autosomal Dominant 8 67
Dfna12 67
Dfna8 67


Classifications:



External Ids:

OMIM49 601543
MedGen34 C1832187
MeSH36 D006319

Summaries for Deafness, Autosomal Dominant 8/12

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UniProtKB/Swiss-Prot:67 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 8/12, also known as non-syndromic sensorineural deafness autosomal dominant type 12, is related to dfna 8/12 nonsyndromic hearing loss and deafness and sensorineural hearing loss, and has symptoms including autosomal dominant inheritanceand sensorineural hearing impairment. An important gene associated with Deafness, Autosomal Dominant 8/12 is TECTA (Tectorin Alpha). Affiliated tissues include brain.

Description from OMIM:49 601543

Related Diseases for Deafness, Autosomal Dominant 8/12

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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 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 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 Recessive 103
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 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 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 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 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 Autosomal Dominant Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness Nonsyndromic Deafness
Otof-Related Deafness

Diseases related to Deafness, Autosomal Dominant 8/12 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1dfna 8/12 nonsyndromic hearing loss and deafness10.3
2sensorineural hearing loss10.1

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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Interventional clinical trials:

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

Genetic Tests for Deafness, Autosomal Dominant 8/12

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Genetic tests related to Deafness, Autosomal Dominant 8/12:

id Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 1224

Anatomical Context for Deafness, Autosomal Dominant 8/12

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MalaCards organs/tissues related to Deafness, Autosomal Dominant 8/12:

33
Brain

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:

67 (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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TECTANM_005422.2(TECTA): c.6155G> A (p.Cys2052Tyr)single nucleotide variantLikely pathogenicrs727503467GRCh37Chr 11, 121058696: 121058696
2TECTANM_005422.2(TECTA): c.5458C> T (p.Leu1820Phe)single nucleotide variantPathogenicrs281865415GRCh37Chr 11, 121037361: 121037361
3TECTANM_005422.2(TECTA): c.5609A> G (p.Tyr1870Cys)single nucleotide variantPathogenicrs121909058GRCh37Chr 11, 121038785: 121038785
4TECTANM_005422.2(TECTA): c.3169T> A (p.Cys1057Ser)single nucleotide variantPathogenicrs121909059GRCh37Chr 11, 121008357: 121008357
5TECTANM_005422.2(TECTA): c.4856G> C (p.Cys1619Ser)single nucleotide variantPathogenicrs121909060GRCh37Chr 11, 121031010: 121031010
6TECTANM_005422.2(TECTA): c.5509T> G (p.Cys1837Gly)single nucleotide variantPathogenicrs121909061GRCh37Chr 11, 121037412: 121037412
7TECTANM_005422.2(TECTA): c.6062G> A (p.Arg2021His)single nucleotide variantPathogenicrs121909062GRCh37Chr 11, 121058603: 121058603
8TECTANM_005422.2(TECTA): c.5668C> T (p.Arg1890Cys)single nucleotide variantPathogenicrs121909063GRCh37Chr 11, 121038844: 121038844
9TECTANM_005422.2(TECTA): c.5509T> C (p.Cys1837Arg)single nucleotide variantPathogenicrs121909061GRCh37Chr 11, 121037412: 121037412
10TECTATECTA, 5331G-Asingle nucleotide variantPathogenic

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

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

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Sources for Deafness, Autosomal Dominant 8/12

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet