MCID: WFS001
MIFTS: 6

Wfs1-Related Disorders

Aliases & Classifications for Wfs1-Related Disorders

MalaCards integrated aliases for Wfs1-Related Disorders:

Name: Wfs1-Related Disorders 24 29 6 40

Summaries for Wfs1-Related Disorders

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

GeneReviews: NBK4144

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-like syndrome, autosomal dominant 9.8 LOC107986257 WFS1
2 wolfram syndrome 9.7 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 29 WFS1

Anatomical Context for Wfs1-Related Disorders

Publications for Wfs1-Related Disorders

Articles related to Wfs1-Related Disorders:

# Title Authors Year
1
Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders. ( 24890733 )
2015
2
WFS1-Related Disorders ( 20301750 )
1993

Variations for Wfs1-Related Disorders

ClinVar genetic disease variations for Wfs1-Related Disorders:

6 (show all 36)
# 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.1297G> A (p.Ala433Thr) single nucleotide variant Uncertain significance rs138771366 GRCh37 Chromosome 4, 6302819: 6302819
18 WFS1 NM_006005.3(WFS1): c.1297G> A (p.Ala433Thr) single nucleotide variant Uncertain significance rs138771366 GRCh38 Chromosome 4, 6301092: 6301092
19 WFS1 NM_006005.3(WFS1): c.1957C> T (p.Arg653Cys) single nucleotide variant Uncertain significance rs201064551 GRCh38 Chromosome 4, 6301752: 6301752
20 WFS1 NM_006005.3(WFS1): c.1957C> T (p.Arg653Cys) single nucleotide variant Uncertain significance rs201064551 GRCh37 Chromosome 4, 6303479: 6303479
21 WFS1 NM_006005.3(WFS1): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic/Likely pathogenic rs71530923 GRCh37 Chromosome 4, 6279306: 6279306
22 WFS1 NM_006005.3(WFS1): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic/Likely pathogenic rs71530923 GRCh38 Chromosome 4, 6277579: 6277579
23 WFS1 NM_006005.3(WFS1): c.683G> A (p.Arg228His) single nucleotide variant Uncertain significance rs150771247 GRCh37 Chromosome 4, 6293695: 6293695
24 WFS1 NM_006005.3(WFS1): c.683G> A (p.Arg228His) single nucleotide variant Uncertain significance rs150771247 GRCh38 Chromosome 4, 6291968: 6291968
25 WFS1 NM_006005.3(WFS1): c.1672C> T (p.Arg558Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199946797 GRCh37 Chromosome 4, 6303194: 6303194
26 WFS1 NM_006005.3(WFS1): c.1672C> T (p.Arg558Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199946797 GRCh38 Chromosome 4, 6301467: 6301467
27 WFS1 NM_006005.3(WFS1): c.1235T> C (p.Val412Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs144951440 GRCh38 Chromosome 4, 6301030: 6301030
28 WFS1 NM_006005.3(WFS1): c.1235T> C (p.Val412Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs144951440 GRCh37 Chromosome 4, 6302757: 6302757
29 WFS1 NM_006005.3(WFS1): c.1846G> T (p.Ala616Ser) single nucleotide variant Uncertain significance rs553336498 GRCh37 Chromosome 4, 6303368: 6303368
30 WFS1 NM_006005.3(WFS1): c.1846G> T (p.Ala616Ser) single nucleotide variant Uncertain significance rs553336498 GRCh38 Chromosome 4, 6301641: 6301641
31 WFS1 NM_006005.3(WFS1): c.1060_1062delTTC (p.Phe354del) deletion Pathogenic rs876657735 GRCh38 Chromosome 4, 6300855: 6300857
32 WFS1 NM_006005.3(WFS1): c.1060_1062delTTC (p.Phe354del) deletion Pathogenic rs876657735 GRCh37 Chromosome 4, 6302582: 6302584
33 WFS1 NM_006005.3(WFS1): c.937C> T (p.His313Tyr) single nucleotide variant Likely pathogenic rs886044563 GRCh37 Chromosome 4, 6302459: 6302459
34 WFS1 NM_006005.3(WFS1): c.937C> T (p.His313Tyr) single nucleotide variant Likely pathogenic rs886044563 GRCh38 Chromosome 4, 6300732: 6300732
35 HERC2 NM_004667.5(HERC2): c.7617+4A> C single nucleotide variant not provided GRCh37 Chromosome 15, 28447255: 28447255
36 HERC2 NM_004667.5(HERC2): c.7617+4A> C single nucleotide variant not provided GRCh38 Chromosome 15, 28202109: 28202109

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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