DFNA12
MCID: DFN129
MIFTS: 25

Deafness, Autosomal Dominant 8/12 (DFNA12) malady

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

Aliases & Classifications for Deafness, Autosomal Dominant 8/12

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

Name: Deafness, Autosomal Dominant 8/12 54 13
Deafness, Autosomal Dominant, 12 66 29
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 12 66
Deafness, Autosomal Dominant 12 69
Deafness Autosomal Dominant 8 66
Dfna12 66
Dfna8 66

Characteristics:

HPO:

32
deafness, autosomal dominant 8/12:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 601543
MedGen 40 C1832187
MeSH 42 D006319

Summaries for Deafness, Autosomal Dominant 8/12

UniProtKB/Swiss-Prot : 66 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 deafness, autosomal dominant, 12, is related to autosomal dominant nonsyndromic deafness 12 and 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.

Description from OMIM: 601543

Related Diseases for Deafness, Autosomal Dominant 8/12

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 8
Autosomal Recessive Nonsyndromic Deafness 97 Autosomal Dominant Nonsyndromic Deafness 12
Autosomal Dominant Nonsyndromic Deafness 20 Autosomal Dominant Nonsyndromic Deafness 6
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:

id Related Disease Score Top Affiliating Genes
1 autosomal dominant nonsyndromic deafness 12 10.9
2 dfna 8/12 nonsyndromic hearing loss and deafness 10.9

Symptoms & Phenotypes for Deafness, Autosomal Dominant 8/12

Symptoms by clinical synopsis from OMIM:

601543

Clinical features from OMIM:

601543

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

32
id Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407

Drugs & Therapeutics for Deafness, Autosomal Dominant 8/12

Interventional clinical trials:


id Name Status NCT ID Phase
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

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

Genetic Tests for Deafness, Autosomal Dominant 8/12

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

id Genetic test Affiliating Genes
1 Deafness, Autosomal Dominant 12 29

Anatomical Context for Deafness, Autosomal Dominant 8/12

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

39
Brain

Publications for Deafness, Autosomal Dominant 8/12

Variations for Deafness, Autosomal Dominant 8/12

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

66 (show all 29)
id Symbol AA change Variation ID SNP ID
1 TECTA p.Cys1057Ser VAR_018970 rs121909059
2 TECTA p.Cys1619Ser VAR_018971 rs28939691
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 rs28939690
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
29 TECTA p.Ile2009Thr VAR_066097

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TECTA NM_005422.2(TECTA): c.5609A> G (p.Tyr1870Cys) single nucleotide variant Pathogenic rs121909058 GRCh37 Chromosome 11, 121038785: 121038785
2 TECTA NM_005422.2(TECTA): c.3169T> A (p.Cys1057Ser) single nucleotide variant Pathogenic rs121909059 GRCh37 Chromosome 11, 121008357: 121008357
3 TECTA NM_005422.2(TECTA): c.4856G> C (p.Cys1619Ser) single nucleotide variant Pathogenic rs121909060 GRCh37 Chromosome 11, 121031010: 121031010
4 TECTA NM_005422.2(TECTA): c.5509T> G (p.Cys1837Gly) single nucleotide variant Pathogenic rs121909061 GRCh37 Chromosome 11, 121037412: 121037412
5 TECTA NM_005422.2(TECTA): c.6062G> A (p.Arg2021His) single nucleotide variant Pathogenic rs121909062 GRCh37 Chromosome 11, 121058603: 121058603
6 TECTA NM_005422.2(TECTA): c.5668C> T (p.Arg1890Cys) single nucleotide variant Pathogenic rs121909063 GRCh37 Chromosome 11, 121038844: 121038844
7 TECTA NM_005422.2(TECTA): c.5509T> C (p.Cys1837Arg) single nucleotide variant Pathogenic rs121909061 GRCh37 Chromosome 11, 121037412: 121037412
8 TECTA TECTA, 5331G-A single nucleotide variant Pathogenic
9 TECTA NM_005422.2(TECTA): c.2887G> A (p.Ala963Thr) single nucleotide variant Pathogenic rs753896285 GRCh38 Chromosome 11, 121130157: 121130157
10 TECTA NM_005422.2(TECTA): c.6017A> G (p.Asp2006Gly) single nucleotide variant Pathogenic rs878853224 GRCh38 Chromosome 11, 121187849: 121187849

Expression for Deafness, Autosomal Dominant 8/12

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

Pathways for Deafness, Autosomal Dominant 8/12

GO Terms for Deafness, Autosomal Dominant 8/12

Sources for Deafness, Autosomal Dominant 8/12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
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34 ICD10 via Orphanet
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42 MeSH
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48 NDF-RT
51 NINDS
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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