MCID: WFS001
MIFTS: 19

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 syndrome and wolfram syndrome 1. An important gene associated with Wfs1-Related Disorders is WFS1 (Wolframin ER Transmembrane Glycoprotein). Affiliated tissues include brain.

GeneReviews: NBK4144

Related Diseases for Wfs1-Related Disorders

Graphical network of the top 20 diseases related to Wfs1-Related Disorders:



Diseases related to Wfs1-Related Disorders

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

MalaCards organs/tissues related to Wfs1-Related Disorders:

41
Brain

Publications for Wfs1-Related Disorders

Articles related to Wfs1-Related Disorders:

(show top 50) (show all 70)
# Title Authors PMID Year
1
Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans. 4
23531866 2013
2
Distribution of Wfs1 protein in the central nervous system of the mouse and its relation to clinical symptoms of the Wolfram syndrome. 4
18551525 2008
3
Hearing impairment in genotyped Wolfram syndrome patients. 4
18700423 2008
4
A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings. 4
18518985 2008
5
Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in the WFS1 gene. 4
18544103 2008
6
Candidate gene studies reveal that the WFS1 gene joins the expanding list of novel type 2 diabetes genes. 4
18197395 2008
7
Replication of the association between variants in WFS1 and risk of type 2 diabetes in European populations. 4
18040659 2008
8
Sodium-potassium ATPase 1 subunit is a molecular partner of Wolframin, an endoplasmic reticulum protein involved in ER stress. 4
17947299 2008
9
Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome. 4
17637805 2007
10
Differential diagnosis of type 1 diabetes: which genetic syndromes need to be considered? 4
17727381 2007
11
A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. 4
17846994 2007
12
Microvascular diabetes complications in Wolfram syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness [DIDMOAD]): an age- and duration-matched comparison with common type 1 diabetes. 4
17536072 2007
13
Common variants in WFS1 confer risk of type 2 diabetes. 4
17603484 2007
14
Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome. 4
17568405 2007
15
Wolfram syndrome presenting marked brain MR imaging abnormalities with few neurologic abnormalities. 4
17297000 2007
16
Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese. 4
17492394 2007
17
A new mutation in WFS1 gene (C.1522-1523delTA, Y508fsX421) may be responsible for early appearance of clinical features of Wolfram syndrome and suicidal behaviour. 4
17187023 2006
18
Wolfram syndrome 1 (WFS1) protein expression in retinal ganglion cells and optic nerve glia of the cynomolgus monkey. 4
16928372 2006
19
Wolfram syndrome-associated mutations lead to instability and proteasomal degradation of wolframin. 4
16806192 2006
20
Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene. 4
16648378 2006
21
Wolfram/DIDMOAD syndrome, a heterogenic and molecularly complex neurodegenerative disease. 4
16639390 2006
22
Phenotypic characterization of a DFNA6 family showing progressive low-frequency sensorineural hearing impairment. 4
16043233 2006
23
Pigmentary maculopathy in a patient with Wolfram syndrome. 4
16462870 2006
24
Bowel dysfunction in Wolfram syndrome. 4
16443921 2006
25
Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified. 4
16151413 2005
26
OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. 4
16240368 2005
27
A mutation in Wolfram syndrome type 1 gene in a Japanese family with autosomal dominant low-frequency sensorineural hearing loss. 4
16353398 2005
28
The prevalence of coeliac disease in adult Danish patients with type 1 diabetes with and without nephropathy. 4
15918021 2005
29
Cranial magnetic resonance imaging of Wolfram (DIDMOAD) syndrome. 4
15845065 2005
30
Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene. 4
15605410 2005
31
DFNA54, a third locus for low-frequency hearing loss. 4
15490091 2004
32
Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1. 4
15531309 2004
33
Neurodegenerative disorders associated with diabetes mellitus. 4
15175861 2004
34
Phenotype-genotype correlations in a series of wolfram syndrome families. 4
15277431 2004
35
Modifier controls severity of a novel dominant low-frequency MyosinVIIA (MYO7A) auditory mutation. 4
15121790 2004
36
Sex-related hearing impairment in Wolfram syndrome patients identified by inactivating WFS1 mutations. 4
14676474 2004
37
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease. 4
12955714 2003
38
Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product. 4
12913071 2003
39
Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay. 4
12754709 2003
40
Molecular characterization of WFS1 in patients with Wolfram syndrome. 4
12707373 2003
41
Wolfram syndrome and suicide: Evidence for a role of WFS1 in suicidal and impulsive behavior. 4
12707947 2003
42
Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1). 4
12707188 2003
43
The WFS1 (Wolfram syndrome 1) is not a major susceptibility gene for the development of psychiatric disorders. 4
12605098 2003
44
Wolfram (DIDMOAD) syndrome: a multidisciplinary clinical study in nine Turkish patients and review of the literature. 4
12650300 2003
45
Complete Wolfram's syndrome and successful pregnancy. 4
12381487 2002
46
WFS1 mutations in Spanish patients with diabetes mellitus and deafness. 4
12107816 2002
47
Occurrence of celiac disease after onset of type 1 diabetes: a 6-year prospective longitudinal study. 4
11986443 2002
48
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations. 4
12073007 2002
49
Is there a relationship between Wolfram syndrome carrier status and suicide? 4
11920861 2002
50
Association studies of genetic variation in the WFS1 gene and type 2 diabetes in U.K. populations. 4
11916957 2002

Variations for Wfs1-Related Disorders

ClinVar genetic disease variations for Wfs1-Related Disorders:

6 (show all 28)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 WFS1 NM_006005.3(WFS1): c.1901A> C (p.Lys634Thr) single nucleotide variant Pathogenic rs104893882 4:6303423-6303423 4:6301696-6301696
2 WFS1 NM_006005.3(WFS1): c.2590G> A (p.Glu864Lys) single nucleotide variant Pathogenic/Likely pathogenic rs74315205 4:6304112-6304112 4:6302385-6302385
3 WFS1 NM_006005.3(WFS1): c.2146G> A (p.Ala716Thr) single nucleotide variant Pathogenic/Likely pathogenic rs28937893 4:6303668-6303668 4:6301941-6301941
4 WFS1 NM_006005.3(WFS1): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic/Likely pathogenic rs71530923 4:6279306-6279306 4:6277579-6277579
5 WFS1 NM_006005.3(WFS1): c.2486T> C (p.Leu829Pro) single nucleotide variant Likely pathogenic rs104893883 4:6304008-6304008 4:6302281-6302281
6 WFS1 NM_006005.3(WFS1): c.1235T> C (p.Val412Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs144951440 4:6302757-6302757 4:6301030-6301030
7 WFS1 NM_006005.3(WFS1): c.1371G> T (p.Arg457Ser) single nucleotide variant Uncertain significance rs113446173 4:6302893-6302893 4:6301166-6301166
8 WFS1 NM_006005.3(WFS1): c.1538A> C (p.Tyr513Ser) single nucleotide variant Uncertain significance rs544933961 4:6303060-6303060 4:6301333-6301333
9 WFS1 NM_006005.3(WFS1): c.1633G> A (p.Val545Met) single nucleotide variant Uncertain significance rs201993978 4:6303155-6303155 4:6301428-6301428
10 WFS1 NM_006005.3(WFS1): c.1846G> T (p.Ala616Ser) single nucleotide variant Uncertain significance rs553336498 4:6303368-6303368 4:6301641-6301641
11 WFS1 NM_006005.3(WFS1): c.535G> A (p.Ala179Thr) single nucleotide variant Uncertain significance rs776685250 4:6292998-6292998 4:6291271-6291271
12 WFS1 NM_006005.3(WFS1): c.1079G> A (p.Cys360Tyr) single nucleotide variant Uncertain significance rs147157374 4:6302601-6302601 4:6300874-6300874
13 WFS1 NM_006005.3(WFS1): c.1724C> G (p.Ala575Gly) single nucleotide variant Uncertain significance rs71524360 4:6303246-6303246 4:6301519-6301519
14 WFS1 NM_006005.3(WFS1): c.1124G> A (p.Arg375His) single nucleotide variant Uncertain significance rs142671083 4:6302646-6302646 4:6300919-6300919
15 WFS1 NM_006005.3(WFS1): c.2096C> T (p.Thr699Met) single nucleotide variant Uncertain significance rs28937894 4:6303618-6303618 4:6301891-6301891
16 WFS1 NM_006005.3(WFS1): c.2492G> A (p.Gly831Asp) single nucleotide variant Uncertain significance rs28937895 4:6304014-6304014 4:6302287-6302287
17 WFS1 NM_006005.3(WFS1): c.2576G> A (p.Arg859Gln) single nucleotide variant Uncertain significance rs121912618 4:6304098-6304098 4:6302371-6302371
18 WFS1 NM_006005.3(WFS1): c.683G> A (p.Arg228His) single nucleotide variant Uncertain significance rs150771247 4:6293695-6293695 4:6291968-6291968
19 WFS1 NM_006005.3(WFS1): c.2029G> A (p.Ala677Thr) single nucleotide variant Uncertain significance rs757027394 4:6303551-6303551 4:6301824-6301824
20 WFS1 NM_006005.3(WFS1): c.728C> T (p.Ala243Val) single nucleotide variant Uncertain significance rs147147660 4:6296783-6296783 4:6295056-6295056
21 WFS1 NM_006005.3(WFS1): c.817G> A (p.Glu273Lys) single nucleotide variant Uncertain significance rs142428158 4:6296872-6296872 4:6295145-6295145
22 WFS1 NM_006005.3(WFS1): c.1167T> G (p.Asp389Glu) single nucleotide variant Uncertain significance rs201282601 4:6302689-6302689 4:6300962-6300962
23 WFS1 NM_006005.3(WFS1): c.716A> G (p.Lys239Arg) single nucleotide variant Uncertain significance rs727503747 4:6296771-6296771 4:6295044-6295044
24 WFS1 NM_006005.3(WFS1): c.1297G> A (p.Ala433Thr) single nucleotide variant Uncertain significance rs138771366 4:6302819-6302819 4:6301092-6301092
25 WFS1 NM_006005.3(WFS1): c.1957C> T (p.Arg653Cys) single nucleotide variant Uncertain significance rs201064551 4:6303479-6303479 4:6301752-6301752
26 WFS1 NM_006005.3(WFS1): c.1396G> A (p.Gly466Ser) single nucleotide variant Uncertain significance rs727503750 4:6302918-6302918 4:6301191-6301191
27 WFS1 NM_006005.3(WFS1): c.482G> A (p.Arg161Gln) single nucleotide variant Benign/Likely benign rs115346085 4:6292945-6292945 4:6291218-6291218
28 HERC2 NM_004667.5(HERC2): c.7617+4A> C single nucleotide variant not provided 15:28447255-28447255 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

Molecular functions related to Wfs1-Related Disorders according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ubiquitin protein ligase binding GO:0031625 8.62 WFS1 HERC2

Sources for Wfs1-Related Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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