MCID: DFN193
MIFTS: 13

Deafness, Autosomal Dominant 6/14/38 malady

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

Summaries for Deafness, Autosomal Dominant 6/14/38

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Looking for an antibody for researching deafness, autosomal dominant 6/14/38?

WFS1 antibody
OMIM:46 Low frequency sensorineural hearing loss is an unusual type of hearing loss in which frequencies of 2,000 Hz and below...600965 more...

MalaCards based summary: Deafness, Autosomal Dominant 6/14/38 and has symptoms including autosomal dominant inheritance, progressive sensorineural hearing impairment and low-frequency sensorineural hearing impairment. An important gene associated with Deafness, Autosomal Dominant 6/14/38 is WFS1 (Wolfram syndrome 1 (wolframin)).

Aliases & Classifications for Deafness, Autosomal Dominant 6/14/38

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Deafness, Autosomal Dominant 6/14/38, Aliases & Descriptions:

Name: Deafness, Autosomal Dominant 6/14/38 46


Classifications:



Related Diseases for Deafness, Autosomal Dominant 6/14/38

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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 6/14/38

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Symptoms by clinical synopsis from OMIM:

600965

Clinical features from OMIM:

600965

HPO human phenotypes related to Deafness, Autosomal Dominant 6/14/38:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 progressive sensorineural hearing impairment HP:0000408
3 low-frequency sensorineural hearing impairment HP:0008573

Drugs & Therapeutics for Deafness, Autosomal Dominant 6/14/38

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Drug clinical trials:

Search ClinicalTrials for Deafness, Autosomal Dominant 6/14/38

Search NIH Clinical Center for Deafness, Autosomal Dominant 6/14/38

Genetic Tests for Deafness, Autosomal Dominant 6/14/38

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Anatomical Context for Deafness, Autosomal Dominant 6/14/38

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Animal Models for Deafness, Autosomal Dominant 6/14/38 or affiliated genes

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Publications for Deafness, Autosomal Dominant 6/14/38

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Variations for Deafness, Autosomal Dominant 6/14/38

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UniProtKB/Swiss-Prot genetic disease variations for Deafness, Autosomal Dominant 6/14/38:

63
id Symbol AA change Variation ID SNP ID
1WFS1p.Lys634ThrVAR_032963
2WFS1p.Thr699MetVAR_032964rs28937894
3WFS1p.Ala716ThrVAR_032965rs28937893
4WFS1p.Val779MetVAR_032966rs141328044
5WFS1p.Leu829ProVAR_032967
6WFS1p.Gly831AspVAR_032968rs28937895
7WFS1p.Arg859GlnVAR_068347

Clinvar genetic disease variations for Deafness, Autosomal Dominant 6/14/38:

7
id Gene Name Type Significance SNP ID Assembly Location
1WFS1NM_006005.3(WFS1): c.2146G> A (p.Ala716Thr)single nucleotide variantPathogenicrs28937893GRCh37Chr 4, 6303668: 6303668
2WFS1NM_006005.3(WFS1): c.2486T> C (p.Leu829Pro)single nucleotide variantPathogenicrs104893883GRCh37Chr 4, 6304008: 6304008
3WFS1NM_006005.3(WFS1): c.2096C> T (p.Thr699Met)single nucleotide variantPathogenicrs28937894GRCh37Chr 4, 6303618: 6303618
4WFS1NM_006005.3(WFS1): c.2492G> A (p.Gly831Asp)single nucleotide variantPathogenicrs28937895GRCh37Chr 4, 6304014: 6304014
5WFS1NM_006005.3(WFS1): c.1901A> C (p.Lys634Thr)single nucleotide variantPathogenicrs104893882GRCh37Chr 4, 6303423: 6303423
6WFS1NM_006005.3(WFS1): c.2590G> A (p.Glu864Lys)single nucleotide variantPathogenicrs74315205GRCh37Chr 4, 6304112: 6304112
7WFS1NM_006005.3(WFS1): c.2576G> A (p.Arg859Gln)single nucleotide variantPathogenicrs121912618GRCh37Chr 4, 6304098: 6304098

Expression for genes affiliated with Deafness, Autosomal Dominant 6/14/38

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Expression patterns in normal tissues for genes affiliated with Deafness, Autosomal Dominant 6/14/38

Search GEO for disease gene expression data for Deafness, Autosomal Dominant 6/14/38.

Pathways for genes affiliated with Deafness, Autosomal Dominant 6/14/38

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Compounds for genes affiliated with Deafness, Autosomal Dominant 6/14/38

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GO Terms for genes affiliated with Deafness, Autosomal Dominant 6/14/38

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Products for genes affiliated with Deafness, Autosomal Dominant 6/14/38

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

Sources for Deafness, Autosomal Dominant 6/14/38

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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