MCID: DFN129
MIFTS: 25

Deafness, Autosomal Dominant 8/12 malady

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

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 52 12
Dfna12 11 70 50
Dfna8 11 70 50
Deafness, Autosomal Dominant, 12 70 27
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 12 70
 
Autosomal Dominant Nonsyndromic Deafness 12 11
Deafness, Autosomal Dominant 12 68
Autosomal Dominant Deafness 12 11
Autosomal Dominant Deafness 8 11
Deafness Autosomal Dominant 8 70

Characteristics:

HPO:

64
deafness, autosomal dominant 8/12:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 601543
Disease Ontology11 DOID:0110544
ICD1030 H90.3
MedGen37 C1832187
MeSH39 D006319

Summaries for Deafness, Autosomal Dominant 8/12

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UniProtKB/Swiss-Prot:70 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 dfna12, is related to dfna 8/12 nonsyndromic hearing loss and deafness, and has symptoms including sensorineural hearing impairment An important gene associated with Deafness, Autosomal Dominant 8/12 is TECTA (Tectorin Alpha). Affiliated tissues include brain.

Disease Ontology:11 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:52 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 Nonsyndromic Deafness
Autosomal Dominant Nonsyndromic Deafness Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 105 Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 47 Autosomal Recessive Nonsyndromic Deafness 97
Autosomal Dominant Nonsyndromic Deafness 66 Autosomal Dominant Nonsyndromic Deafness 68
Autosomal Dominant Nonsyndromic Deafness 69 Autosomal Dominant Nonsyndromic Deafness 70
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 deafness10.8

Symptoms & Phenotypes for Deafness, Autosomal Dominant 8/12

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Symptoms by clinical synopsis from OMIM:

601543

Clinical features from OMIM:

601543

Human phenotypes related to Deafness, Autosomal Dominant 8/12:

 64
id Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment64 HP:0000407

Drugs & Therapeutics for Deafness, Autosomal Dominant 8/12

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search 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 1227

Anatomical Context for Deafness, Autosomal Dominant 8/12

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

36
Brain

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:

70 (show all 29)
id Symbol AA change Variation ID SNP ID
1TECTAp.Cys1057SerVAR_018970rs121909059
2TECTAp.Cys1619SerVAR_018971rs28939691
3TECTAp.Leu1820PheVAR_018973rs281865415
4TECTAp.Gly1824AspVAR_018974rs267607107
5TECTAp.Cys1837GlyVAR_018975rs121909061
6TECTAp.Tyr1870CysVAR_018976rs28939690
7TECTAp.Arg2021HisVAR_018977rs121909062
8TECTAp.Asp197AsnVAR_066076
9TECTAp.Phe211SerVAR_066077
10TECTAp.Val317GluVAR_066078
11TECTAp.Ser362CysVAR_066079rs779123206
12TECTAp.Asn465LysVAR_066080
13TECTAp.Thr562MetVAR_066081rs779401654
14TECTAp.Thr815MetVAR_066082rs111759871
15TECTAp.Asn886SerVAR_066083rs146175803
16TECTAp.Cys1036TyrVAR_066084rs772606235
17TECTAp.Ala1098ValVAR_066085rs761524812
18TECTAp.Asp1136HisVAR_066086rs147890616
19TECTAp.Pro1248LeuVAR_066087rs138768918
20TECTAp.Cys1509GlyVAR_066088
21TECTAp.Cys1517ArgVAR_066089
22TECTAp.Pro1791ArgVAR_066090rs754213928
23TECTAp.Cys1837ArgVAR_066091rs121909061
24TECTAp.Thr1866MetVAR_066092rs140236996
25TECTAp.His1867ArgVAR_066093
26TECTAp.Arg1890CysVAR_066094rs121909063
27TECTAp.Cys1898ArgVAR_066095
28TECTAp.Arg1947CysVAR_066096
29TECTAp.Ile2009ThrVAR_066097

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

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1TECTANM_005422.2(TECTA): c.6017A> G (p.Asp2006Gly)SNVPathogenicrs878853224GRCh38Chr 11, 121187849: 121187849
2TECTANM_005422.2(TECTA): c.5597C> T (p.Thr1866Met)SNVPathogenicrs140236996GRCh38Chr 11, 121168064: 121168064
3TECTANM_005422.2(TECTA): c.2887G> A (p.Ala963Thr)SNVPathogenicrs753896285GRCh38Chr 11, 121130157: 121130157
4TECTANM_005422.2(TECTA): c.5609A> G (p.Tyr1870Cys)SNVPathogenicrs121909058GRCh37Chr 11, 121038785: 121038785
5TECTANM_005422.2(TECTA): c.3169T> A (p.Cys1057Ser)SNVPathogenicrs121909059GRCh37Chr 11, 121008357: 121008357
6TECTANM_005422.2(TECTA): c.4856G> C (p.Cys1619Ser)SNVPathogenicrs121909060GRCh37Chr 11, 121031010: 121031010
7TECTANM_005422.2(TECTA): c.5509T> G (p.Cys1837Gly)SNVPathogenicrs121909061GRCh37Chr 11, 121037412: 121037412
8TECTANM_005422.2(TECTA): c.6062G> A (p.Arg2021His)SNVPathogenicrs121909062GRCh37Chr 11, 121058603: 121058603
9TECTANM_005422.2(TECTA): c.5668C> T (p.Arg1890Cys)SNVPathogenicrs121909063GRCh37Chr 11, 121038844: 121038844
10TECTANM_005422.2(TECTA): c.5509T> C (p.Cys1837Arg)SNVPathogenicrs121909061GRCh37Chr 11, 121037412: 121037412
11TECTATECTA, 5331G-ASNVPathogenicChr na, -1: -1

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet