MCID: WFS001
MIFTS: 8

Wfs1-Related Disorders

Aliases & Classifications for Wfs1-Related Disorders

MalaCards integrated aliases for Wfs1-Related Disorders:

Name: Wfs1-Related Disorders 25 30 6 41

Summaries for Wfs1-Related Disorders

MalaCards based summary : Wfs1-Related Disorders is related to wolfram syndrome 1 and wolfram-like syndrome, autosomal dominant. An important gene associated with Wfs1-Related Disorders is WFS1 (Wolframin ER Transmembrane Glycoprotein).

GeneReviews:

Related Diseases for Wfs1-Related Disorders

Diseases related to Wfs1-Related Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 wolfram syndrome 1 10.1
2 wolfram-like syndrome, autosomal dominant 9.6 LOC107986257 WFS1
3 wolfram syndrome 9.5 LOC107986257 WFS1

Symptoms & Phenotypes for Wfs1-Related Disorders

Drugs & Therapeutics for Wfs1-Related Disorders

Search Clinical Trials , NIH Clinical Center for Wfs1-Related Disorders

Genetic Tests for Wfs1-Related Disorders

Genetic tests related to Wfs1-Related Disorders:

# Genetic test Affiliating Genes
1 Wfs1-Related Disorders 30 WFS1

Anatomical Context for Wfs1-Related Disorders

Publications for Wfs1-Related Disorders

Articles related to Wfs1-Related Disorders:

(show all 11)
# Title Authors Year
1
Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders. ( 24890733 )
2015
2
Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1. ( 18688868 )
2008
3
Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in the WFS1 gene. ( 18544103 )
2008
4
Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese. ( 17492394 )
2007
5
Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene. ( 16648378 )
2006
6
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations. ( 12073007 )
2002
7
Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family. ( 12181639 )
2002
8
Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. ( 11709537 )
2001
9
Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1. ( 11709538 )
2001
10
Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. ( 9817917 )
1998
11
A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3. ( 8595423 )
1995

Variations for Wfs1-Related Disorders

ClinVar genetic disease variations for Wfs1-Related Disorders:

6 (show top 50) (show all 60)
# Gene Variation Type Significance SNP ID Assembly Location
1 WFS1 NM_006005.3(WFS1): c.2146G> A (p.Ala716Thr) single nucleotide variant Pathogenic/Likely pathogenic rs28937893 GRCh37 Chromosome 4, 6303668: 6303668
2 WFS1 NM_006005.3(WFS1): c.2146G> A (p.Ala716Thr) single nucleotide variant Pathogenic/Likely pathogenic rs28937893 GRCh38 Chromosome 4, 6301941: 6301941
3 WFS1 NM_006005.3(WFS1): c.2486T> C (p.Leu829Pro) single nucleotide variant Likely pathogenic rs104893883 GRCh37 Chromosome 4, 6304008: 6304008
4 WFS1 NM_006005.3(WFS1): c.2486T> C (p.Leu829Pro) single nucleotide variant Likely pathogenic rs104893883 GRCh38 Chromosome 4, 6302281: 6302281
5 WFS1 NM_006005.3(WFS1): c.2096C> T (p.Thr699Met) single nucleotide variant Uncertain significance rs28937894 GRCh37 Chromosome 4, 6303618: 6303618
6 WFS1 NM_006005.3(WFS1): c.2096C> T (p.Thr699Met) single nucleotide variant Uncertain significance rs28937894 GRCh38 Chromosome 4, 6301891: 6301891
7 WFS1 NM_006005.3(WFS1): c.2492G> A (p.Gly831Asp) single nucleotide variant Uncertain significance rs28937895 GRCh37 Chromosome 4, 6304014: 6304014
8 WFS1 NM_006005.3(WFS1): c.2492G> A (p.Gly831Asp) single nucleotide variant Uncertain significance rs28937895 GRCh38 Chromosome 4, 6302287: 6302287
9 WFS1 NM_006005.3(WFS1): c.1901A> C (p.Lys634Thr) single nucleotide variant Pathogenic rs104893882 GRCh37 Chromosome 4, 6303423: 6303423
10 WFS1 NM_006005.3(WFS1): c.1901A> C (p.Lys634Thr) single nucleotide variant Pathogenic rs104893882 GRCh38 Chromosome 4, 6301696: 6301696
11 WFS1 NM_006005.3(WFS1): c.2590G> A (p.Glu864Lys) single nucleotide variant Pathogenic/Likely pathogenic rs74315205 GRCh37 Chromosome 4, 6304112: 6304112
12 WFS1 NM_006005.3(WFS1): c.2590G> A (p.Glu864Lys) single nucleotide variant Pathogenic/Likely pathogenic rs74315205 GRCh38 Chromosome 4, 6302385: 6302385
13 WFS1 NM_006005.3(WFS1): c.2576G> A (p.Arg859Gln) single nucleotide variant Uncertain significance rs121912618 GRCh37 Chromosome 4, 6304098: 6304098
14 WFS1 NM_006005.3(WFS1): c.2576G> A (p.Arg859Gln) single nucleotide variant Uncertain significance rs121912618 GRCh38 Chromosome 4, 6302371: 6302371
15 WFS1 NM_006005.3(WFS1): c.482G> A (p.Arg161Gln) single nucleotide variant Benign/Likely benign rs115346085 GRCh37 Chromosome 4, 6292945: 6292945
16 WFS1 NM_006005.3(WFS1): c.482G> A (p.Arg161Gln) single nucleotide variant Benign/Likely benign rs115346085 GRCh38 Chromosome 4, 6291218: 6291218
17 WFS1 NM_006005.3(WFS1): c.716A> G (p.Lys239Arg) single nucleotide variant Uncertain significance rs727503747 GRCh37 Chromosome 4, 6296771: 6296771
18 WFS1 NM_006005.3(WFS1): c.716A> G (p.Lys239Arg) single nucleotide variant Uncertain significance rs727503747 GRCh38 Chromosome 4, 6295044: 6295044
19 WFS1 NM_006005.3(WFS1): c.1297G> A (p.Ala433Thr) single nucleotide variant Uncertain significance rs138771366 GRCh37 Chromosome 4, 6302819: 6302819
20 WFS1 NM_006005.3(WFS1): c.1297G> A (p.Ala433Thr) single nucleotide variant Uncertain significance rs138771366 GRCh38 Chromosome 4, 6301092: 6301092
21 WFS1 NM_006005.3(WFS1): c.1957C> T (p.Arg653Cys) single nucleotide variant Uncertain significance rs201064551 GRCh38 Chromosome 4, 6301752: 6301752
22 WFS1 NM_006005.3(WFS1): c.1957C> T (p.Arg653Cys) single nucleotide variant Uncertain significance rs201064551 GRCh37 Chromosome 4, 6303479: 6303479
23 WFS1 NM_006005.3(WFS1): c.1396G> A (p.Gly466Ser) single nucleotide variant Uncertain significance rs727503750 GRCh37 Chromosome 4, 6302918: 6302918
24 WFS1 NM_006005.3(WFS1): c.1396G> A (p.Gly466Ser) single nucleotide variant Uncertain significance rs727503750 GRCh38 Chromosome 4, 6301191: 6301191
25 WFS1 NM_006005.3(WFS1): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic/Likely pathogenic rs71530923 GRCh37 Chromosome 4, 6279306: 6279306
26 WFS1 NM_006005.3(WFS1): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic/Likely pathogenic rs71530923 GRCh38 Chromosome 4, 6277579: 6277579
27 WFS1 NM_006005.3(WFS1): c.683G> A (p.Arg228His) single nucleotide variant Uncertain significance rs150771247 GRCh37 Chromosome 4, 6293695: 6293695
28 WFS1 NM_006005.3(WFS1): c.683G> A (p.Arg228His) single nucleotide variant Uncertain significance rs150771247 GRCh38 Chromosome 4, 6291968: 6291968
29 WFS1 NM_006005.3(WFS1): c.2029G> A (p.Ala677Thr) single nucleotide variant Uncertain significance rs757027394 GRCh37 Chromosome 4, 6303551: 6303551
30 WFS1 NM_006005.3(WFS1): c.2029G> A (p.Ala677Thr) single nucleotide variant Uncertain significance rs757027394 GRCh38 Chromosome 4, 6301824: 6301824
31 WFS1 NM_006005.3(WFS1): c.1672C> T (p.Arg558Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199946797 GRCh37 Chromosome 4, 6303194: 6303194
32 WFS1 NM_006005.3(WFS1): c.1672C> T (p.Arg558Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199946797 GRCh38 Chromosome 4, 6301467: 6301467
33 WFS1 NM_006005.3(WFS1): c.728C> T (p.Ala243Val) single nucleotide variant Uncertain significance rs147147660 GRCh38 Chromosome 4, 6295056: 6295056
34 WFS1 NM_006005.3(WFS1): c.728C> T (p.Ala243Val) single nucleotide variant Uncertain significance rs147147660 GRCh37 Chromosome 4, 6296783: 6296783
35 WFS1 NM_006005.3(WFS1): c.817G> A (p.Glu273Lys) single nucleotide variant Uncertain significance rs142428158 GRCh37 Chromosome 4, 6296872: 6296872
36 WFS1 NM_006005.3(WFS1): c.817G> A (p.Glu273Lys) single nucleotide variant Uncertain significance rs142428158 GRCh38 Chromosome 4, 6295145: 6295145
37 WFS1 NM_006005.3(WFS1): c.1167T> G (p.Asp389Glu) single nucleotide variant Uncertain significance rs201282601 GRCh38 Chromosome 4, 6300962: 6300962
38 WFS1 NM_006005.3(WFS1): c.1167T> G (p.Asp389Glu) single nucleotide variant Uncertain significance rs201282601 GRCh37 Chromosome 4, 6302689: 6302689
39 WFS1 NM_006005.3(WFS1): c.1235T> C (p.Val412Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs144951440 GRCh38 Chromosome 4, 6301030: 6301030
40 WFS1 NM_006005.3(WFS1): c.1235T> C (p.Val412Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs144951440 GRCh37 Chromosome 4, 6302757: 6302757
41 WFS1 NM_006005.3(WFS1): c.1371G> T (p.Arg457Ser) single nucleotide variant Uncertain significance rs113446173 GRCh37 Chromosome 4, 6302893: 6302893
42 WFS1 NM_006005.3(WFS1): c.1371G> T (p.Arg457Ser) single nucleotide variant Uncertain significance rs113446173 GRCh38 Chromosome 4, 6301166: 6301166
43 WFS1 NM_006005.3(WFS1): c.1538A> C (p.Tyr513Ser) single nucleotide variant Uncertain significance rs544933961 GRCh38 Chromosome 4, 6301333: 6301333
44 WFS1 NM_006005.3(WFS1): c.1538A> C (p.Tyr513Ser) single nucleotide variant Uncertain significance rs544933961 GRCh37 Chromosome 4, 6303060: 6303060
45 WFS1 NM_006005.3(WFS1): c.1633G> A (p.Val545Met) single nucleotide variant Uncertain significance rs201993978 GRCh37 Chromosome 4, 6303155: 6303155
46 WFS1 NM_006005.3(WFS1): c.1633G> A (p.Val545Met) single nucleotide variant Uncertain significance rs201993978 GRCh38 Chromosome 4, 6301428: 6301428
47 WFS1 NM_006005.3(WFS1): c.1846G> T (p.Ala616Ser) single nucleotide variant Uncertain significance rs553336498 GRCh37 Chromosome 4, 6303368: 6303368
48 WFS1 NM_006005.3(WFS1): c.1846G> T (p.Ala616Ser) single nucleotide variant Uncertain significance rs553336498 GRCh38 Chromosome 4, 6301641: 6301641
49 WFS1 NM_006005.3(WFS1): c.535G> A (p.Ala179Thr) single nucleotide variant Uncertain significance rs776685250 GRCh37 Chromosome 4, 6292998: 6292998
50 WFS1 NM_006005.3(WFS1): c.535G> A (p.Ala179Thr) single nucleotide variant Uncertain significance rs776685250 GRCh38 Chromosome 4, 6291271: 6291271

Expression for Wfs1-Related Disorders

Search GEO for disease gene expression data for Wfs1-Related Disorders.

Pathways for Wfs1-Related Disorders

GO Terms for Wfs1-Related Disorders

Sources for Wfs1-Related Disorders

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17 EFO
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