WFS1
MCID: WLF013
MIFTS: 55

Wolfram Syndrome 1 (WFS1)

Categories: Blood diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Wolfram Syndrome 1

MalaCards integrated aliases for Wolfram Syndrome 1:

Name: Wolfram Syndrome 1 58 12 76 15
Wfs1 58 12 76
Didmoad 58 76
Wfs 58 76
Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness; Didmoad 58
Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness Syndrome 76
Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness 58
Wolfram Syndrome 74

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
wolfram syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Wolfram Syndrome 1

OMIM : 58 Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus, optic atrophy, diabetes insipidus, and deafness (DIDMOAD). Additional clinical features may include renal abnormalities, ataxia, dementia or mental retardation, and diverse psychiatric illnesses. The minimal diagnostic criteria for Wolfram syndrome are optic atrophy and diabetes mellitus of juvenile onset. Hearing impairment in Wolfram syndrome is typically progressive and mainly affects the higher frequencies, but a small fraction of affected individuals have congenital deafness (summary by Rendtorff et al., 2011). Autosomal dominant mutations in the WFS1 gene have been found to cause low-frequency nonsyndromic deafness (600965) as well as a Wolfram syndrome-like phenotype (614296) in which affected individuals have hearing impairment with diabetes mellitus and/or optic atrophy. (222300)

MalaCards based summary : Wolfram Syndrome 1, also known as wfs1, is related to diabetes insipidus and mood disorder, and has symptoms including seizures, ataxia and tremor. An important gene associated with Wolfram Syndrome 1 is WFS1 (Wolframin ER Transmembrane Glycoprotein), and among its related pathways/superpathways are Neuroscience and Unfolded Protein Response (UPR). The drugs Coal tar and Glucagon have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and pancreas, and related phenotypes are ptosis and nystagmus

Disease Ontology : 12 An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the WFS1 gene on chromosome 4p16.1.

UniProtKB/Swiss-Prot : 76 Wolfram syndrome 1: A rare disorder characterized by juvenile-onset insulin-dependent diabetes mellitus with optic atrophy. Other manifestations include diabetes insipidus, sensorineural deafness, dementia, psychiatric illnesses.

Related Diseases for Wolfram Syndrome 1

Diseases in the Wolfram Syndrome family:

Wolfram Syndrome 1 Wolfram Syndrome 2
Wolfram-Like Syndrome, Autosomal Dominant

Diseases related to Wolfram Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 diabetes insipidus 29.8 AVP WFS1
2 mood disorder 29.4 COMT TH
3 wolfram syndrome 28.9 ATF6 AVP COMT HSPA5 SYVN1 WFS1
4 wolfram-like syndrome, autosomal dominant 12.1
5 cataract 41 12.0
6 deafness, autosomal dominant 6 12.0
7 wolfram syndrome, mitochondrial form 11.7
8 diabetes mellitus 11.7
9 diabetes mellitus, noninsulin-dependent 11.6
10 cataract 11.5
11 3-methylglutaconic aciduria, type iii 11.5
12 wolf-hirschhorn syndrome 11.4
13 bipolar disorder 11.4
14 optic nerve disease 11.4
15 chromosome 4p deletion 11.4
16 maternal uniparental disomy of chromosome 4 11.4
17 non-syndromic genetic deafness 11.4
18 insulinoma 11.2
19 waterhouse-friderichsen syndrome 11.2
20 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 11.1
21 asperger syndrome 11.1
22 deafness, autosomal dominant 1 11.0
23 diabetes insipidus, neurohypophyseal 11.0
24 waardenburg syndrome, type 1 11.0
25 diabetes mellitus, insulin-dependent 11.0
26 deafness, autosomal dominant 2a 11.0
27 deafness, autosomal recessive 12 11.0
28 deafness, autosomal dominant 13 11.0
29 deafness, autosomal recessive 16 11.0
30 deafness, autosomal dominant 54 11.0
31 nonsyndromic deafness 11.0
32 autosomal dominant nonsyndromic deafness 11.0
33 hydronephrosis 11.0
34 cranial nerve disease 11.0
35 monogenic diabetes 11.0
36 cleft palate, isolated 10.9
37 duane retraction syndrome 1 10.9
38 laryngomalacia 10.9
39 dandy-walker syndrome 10.9
40 marden-walker syndrome 10.9
41 night blindness, congenital stationary, type 1a 10.9
42 diaphragmatic eventration 10.9
43 diaphragm disease 10.9
44 inner ear disease 10.9
45 peripheral nervous system disease 10.9
46 early-onset nuclear cataract 10.9
47 adenoma 10.1
48 pituitary tumors 10.1
49 schizophrenia 10.0
50 juvenile glaucoma 10.0

Graphical network of the top 20 diseases related to Wolfram Syndrome 1:



Diseases related to Wolfram Syndrome 1

Symptoms & Phenotypes for Wolfram Syndrome 1

Human phenotypes related to Wolfram Syndrome 1:

33 (show all 27)
# Description HPO Frequency HPO Source Accession
1 ptosis 33 HP:0000508
2 nystagmus 33 HP:0000639
3 diabetes mellitus 33 HP:0000819
4 hypothyroidism 33 HP:0000821
5 intellectual disability 33 HP:0001249
6 seizures 33 HP:0001250
7 ataxia 33 HP:0001251
8 dysarthria 33 HP:0001260
9 tremor 33 HP:0001337
10 dysphagia 33 HP:0002015
11 behavioral abnormality 33 HP:0000708
12 sensorineural hearing impairment 33 HP:0000407
13 optic atrophy 33 HP:0000648
14 growth delay 33 HP:0001510
15 cardiomyopathy 33 HP:0001638
16 thrombocytopenia 33 HP:0001873
17 stroke-like episode 33 HP:0002401
18 testicular atrophy 33 HP:0000029
19 diabetes insipidus 33 HP:0000873
20 hydronephrosis 33 HP:0000126
21 hydroureter 33 HP:0000072
22 cerebral atrophy 33 HP:0002059
23 neurogenic bladder 33 HP:0000011
24 pigmentary retinopathy 33 HP:0000580
25 megaloblastic anemia 33 HP:0001889
26 sideroblastic anemia 33 HP:0001924
27 limited mobility of proximal interphalangeal joint 33 HP:0006217

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
brain atrophy
seizures
ataxia
dysarthria
tremor
more
Endocrine Features:
diabetes mellitus
hypothyroidism
diabetes insipidus

Genitourinary Internal Genitalia Male:
testicular atrophy

Genitourinary Ureters:
hydroureter

Growth Other:
growth retardation

Skeletal Hands:
limited mobility of proximal interphalangeal joint

Head And Neck Eyes:
ptosis
nystagmus
optic atrophy
pigmentary retinopathy

Cardiovascular Heart:
cardiomyopathy

Genitourinary Kidneys:
hydronephrosis

Genitourinary Bladder:
neurogenic bladder

Head And Neck Ears:
hearing loss, sensorineural

Clinical features from OMIM:

222300

UMLS symptoms related to Wolfram Syndrome 1:


seizures, ataxia, tremor

MGI Mouse Phenotypes related to Wolfram Syndrome 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.43 ATF6 AVP COMT HSPA5 TH WFS1
2 mortality/aging MP:0010768 9.1 ATF6 AVP HSPA5 SYVN1 TH WFS1

Drugs & Therapeutics for Wolfram Syndrome 1

Drugs for Wolfram Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Coal tar Approved 8007-45-2
2
Glucagon Approved 16941-32-5
3 Insulin, Globin Zinc
4 insulin
5 Hypoglycemic Agents
6 Hormones
7 Hormone Antagonists
8 Incretins
9 Hormones, Hormone Substitutes, and Hormone Antagonists
10 Glucagon-Like Peptide 1
11 Arginine Vasopressin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Tracking Neurodegeneration in Early Wolfram Syndrome Completed NCT02455414
2 Predicting Response to Incretin Based Agents in Type 2 Diabetes Completed NCT01503112
3 I-Tracking Neurodegeneration in Early Wolfram Syndrome Recruiting NCT03951298
4 Wolfram Syndrome International Registry and Clinical Study Recruiting NCT02841553

Search NIH Clinical Center for Wolfram Syndrome 1

Genetic Tests for Wolfram Syndrome 1

Anatomical Context for Wolfram Syndrome 1

MalaCards organs/tissues related to Wolfram Syndrome 1:

42
Brain, Testes, Pancreas, Thyroid, Hypothalamus, Retina, Pancreatic Islet

Publications for Wolfram Syndrome 1

Articles related to Wolfram Syndrome 1:

(show top 50) (show all 180)
# Title Authors Year
1
Muscarinic Agonist Ameliorates Insulin Secretion in Wfs1-Deficient Mice. ( 30266217 )
2019
2
Further Investigation of the Role of ACYP2 and WFS1 Pharmacogenomic Variants in the Development of Cisplatin-Induced Ototoxicity in Testicular Cancer Patients. ( 29358504 )
2018
3
Knockdown of wfs1, a fly homolog of Wolfram syndrome 1, in the nervous system increases susceptibility to age- and stress-induced neuronal dysfunction and degeneration in Drosophila. ( 29357349 )
2018
4
Clinical Characteristics of Wolfram Syndrome in Chinese Population and a Novel Frameshift Mutation in WFS1. ( 29483894 )
2018
5
A novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome: a case report. ( 29549887 )
2018
6
Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease. ( 29774890 )
2018
7
Identification of a missense variant in the WFS1 gene that causes a mild form of Wolfram syndrome and is associated with risk for type 2 diabetes in Ashkenazi Jewish individuals. ( 30014265 )
2018
8
Correction: Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease. ( 30171196 )
2018
9
Mild stress induces brain region-specific alterations of selective ER stress markers' mRNA expression in Wfs1-deficient mice. ( 28963041 )
2018
10
Hippocampus and Hypothalamus RNA-sequencing of WFS1-deficient Mice. ( 29406269 )
2018
11
Whole exome sequencing identifies a pathogenic mutation in WFS1 in two large Chinese families with autosomal dominant all-frequency hearing loss and prenatal counseling. ( 29447883 )
2018
12
WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis. ( 29529044 )
2018
13
Altered expression of WFS1 and NOTCH2 genes associated with diabetic nephropathy in T2DM patients. ( 29626590 )
2018
14
Increased Mitochondrial Protein Levels and Bioenergetics in the Musculus Rectus Femoris of Wfs1-Deficient Mice. ( 30584460 )
2018
15
Association of CpG-SNP and 3'UTR-SNP of WFS1 with the Risk of Type 2 Diabetes Mellitus in an Iranian Population. ( 29988211 )
2017
16
WFS1 and GJB2 mutations in patients with bilateral low-frequency sensorineural hearing loss. ( 28271504 )
2017
17
Clinical and Molecular Genetic Analysis in Three Children with Wolfram Syndrome: A Novel WFS1 Mutation (c.2534T>A). ( 27468121 )
2017
18
A novel heterozygous mutation of the WFS1 gene leading to constitutive endoplasmic reticulum stress is the cause of Wolfram syndrome. ( 28271591 )
2017
19
Wfs1- deficient rats develop primary symptoms of Wolfram syndrome: insulin-dependent diabetes, optic nerve atrophy and medullary degeneration. ( 28860598 )
2017
20
Glutathione system in Wolfram syndrome 1‑deficient mice. ( 28901522 )
2017
21
Metabolomics of the Wolfram Syndrome 1 Gene (Wfs1) Deficient Mice. ( 29257731 )
2017
22
Variants in WFS1 and Other Mendelian Deafness Genes Are Associated with Cisplatin-Associated Ototoxicity. ( 28039263 )
2017
23
Wfs1 is expressed in dopaminoceptive regions of the amniote brain and modulates levels of D1-like receptors. ( 28267787 )
2017
24
Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts. ( 28468959 )
2017
25
Exome sequencing identifies a novel missense mutation of WFS1 as the cause of non-syndromic low-frequency hearing loss in a Chinese family. ( 28802351 )
2017
26
A nonsynonymous mutation in the WFS1 gene in a Finnish family with age-related hearing impairment. ( 28974383 )
2017
27
Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report. ( 29258540 )
2017
28
c.376G>A mutation in WFS1 gene causes Wolfram syndrome without deafness. ( 26773575 )
2016
29
A novel nonsense mutation in the WFS1 gene causes the Wolfram syndrome. ( 26943604 )
2016
30
Exenatide Is an Effective Antihyperglycaemic Agent in a Mouse Model of Wolfram Syndrome 1. ( 27069934 )
2016
31
Expression pattern of wolframin, the WFS1 (Wolfram syndrome-1 gene) product, in common marmoset (Callithrix jacchus) cochlea. ( 27341211 )
2016
32
Identification of four novel mutations of the WFS1 gene in Iranian Wolfram syndrome pedigrees. ( 27412528 )
2016
33
Identification of a novel WFS1 homozygous nonsense mutation in Jordanian children with Wolfram syndrome. ( 27617222 )
2016
34
Analysis of metabolic effects of menthol on WFS1-deficient mice. ( 26733243 )
2016
35
Lamination of the Outer Plexiform Layer in Optic Atrophy Caused by Dominant WFS1 Mutations. ( 26875006 )
2016
36
RNA-sequencing of WFS1-deficient pancreatic islets. ( 27053292 )
2016
37
Variability in the effect of antidepressants upon Wfs1-deficient mice is dependent on the drugs' mechanism of actions. ( 27080063 )
2016
38
A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report. ( 27217304 )
2016
39
Multicapillary gel electrophoresis based analysis of genetic variants in the WFS1 gene. ( 27377286 )
2016
40
WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity. ( 27395765 )
2016
41
Early-onset central diabetes insipidus is associated with de novo arginine vasopressin-neurophysin II or Wolfram syndrome 1 gene mutations. ( 25740874 )
2015
42
Sarco(endo)plasmic reticulum ATPase is a molecular partner of Wolfram syndrome 1 protein, which negatively regulates its expression. ( 25274773 )
2015
43
RETRACTION: Wolfram syndrome 1 and adenylyl cyclase 8 interact at the plasma membrane to regulate insulin production and secretion. ( 25679031 )
2015
44
Deletion of the Wolfram syndrome-related gene Wfs1 results in increased sensitivity to ethanol in female mice. ( 25725334 )
2015
45
Identification of unsuspected Wolfram syndrome cases through clinical assessment and WFS1 gene screening in type 1 diabetes mellitus patients. ( 25895475 )
2015
46
Maternal uniparental disomy of chromosome 4 and homozygous novel mutation in the WFS1 gene in a paediatric patient with Wolfram syndrome. ( 26169481 )
2015
47
Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders. ( 24890733 )
2015
48
Wfs1-deficient animals have brain-region-specific changes of Na+, K+-ATPase activity and mRNA expression of α1 and β1 subunits. ( 25385034 )
2015
49
ATF6β regulates the Wfs1 gene and has a cell survival role in the ER stress response in pancreatic β-cells. ( 25447309 )
2015
50
Prohormone convertase 2 activity is increased in the hippocampus of Wfs1 knockout mice. ( 26379490 )
2015

Variations for Wolfram Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Wolfram Syndrome 1:

76 (show all 22)
# Symbol AA change Variation ID SNP ID
1 WFS1 p.Pro504Leu VAR_005842 rs28937892
2 WFS1 p.Gly695Val VAR_005844 rs28937891
3 WFS1 p.Pro724Leu VAR_005845 rs28937890
4 WFS1 p.Glu169Lys VAR_009109 rs148953711
5 WFS1 p.Pro292Ser VAR_009110 rs746923441
6 WFS1 p.Ile296Ser VAR_009111
7 WFS1 p.Gly437Arg VAR_009114 rs147974629
8 WFS1 p.Cys690Arg VAR_009116 rs754373473
9 WFS1 p.Trp700Cys VAR_009117
10 WFS1 p.Gly736Ser VAR_009118 rs71532864
11 WFS1 p.Pro885Leu VAR_009119 rs372855769
12 WFS1 p.Ala58Val VAR_011305 rs369671890
13 WFS1 p.Ala126Thr VAR_011306 rs145639028
14 WFS1 p.Ser443Ile VAR_011308
15 WFS1 p.Gly780Arg VAR_011313
16 WFS1 p.Arg818Cys VAR_011314 rs35932623
17 WFS1 p.Ala133Thr VAR_014034 rs372249044
18 WFS1 p.Tyr669Cys VAR_014038 rs140299920
19 WFS1 p.Tyr110Asn VAR_029499
20 WFS1 p.Arg457Ser VAR_029502 rs113446173
21 WFS1 p.Arg629Trp VAR_029505 rs71530910
22 WFS1 p.Arg558Cys VAR_068343 rs199946797

ClinVar genetic disease variations for Wolfram Syndrome 1:

6 (show top 50) (show all 75)
# Gene Variation Type Significance SNP ID Assembly Location
1 WFS1 WFS1, 2-BP DEL, 2812TC deletion Pathogenic
2 WFS1 WFS1, 15-BP DEL, NT1685 deletion Pathogenic
3 WFS1 NM_006005.3(WFS1): c.2171C> T (p.Pro724Leu) single nucleotide variant Uncertain significance rs28937890 GRCh37 Chromosome 4, 6303693: 6303693
4 WFS1 NM_006005.3(WFS1): c.2171C> T (p.Pro724Leu) single nucleotide variant Uncertain significance rs28937890 GRCh38 Chromosome 4, 6301966: 6301966
5 WFS1 NM_006005.3(WFS1): c.2084G> T (p.Gly695Val) single nucleotide variant Pathogenic rs28937891 GRCh37 Chromosome 4, 6303606: 6303606
6 WFS1 NM_006005.3(WFS1): c.2084G> T (p.Gly695Val) single nucleotide variant Pathogenic rs28937891 GRCh38 Chromosome 4, 6301879: 6301879
7 WFS1 NM_006005.3(WFS1): c.1944G> A (p.Trp648Ter) single nucleotide variant Pathogenic rs104893879 GRCh37 Chromosome 4, 6303466: 6303466
8 WFS1 NM_006005.3(WFS1): c.1944G> A (p.Trp648Ter) single nucleotide variant Pathogenic rs104893879 GRCh38 Chromosome 4, 6301739: 6301739
9 WFS1 NM_006005.3(WFS1): c.1511C> T (p.Pro504Leu) single nucleotide variant Pathogenic rs28937892 GRCh37 Chromosome 4, 6303033: 6303033
10 WFS1 NM_006005.3(WFS1): c.1511C> T (p.Pro504Leu) single nucleotide variant Pathogenic rs28937892 GRCh38 Chromosome 4, 6301306: 6301306
11 WFS1 WFS1, 7-BP INS, NT1610 insertion Pathogenic
12 WFS1 WFS1, 9-BP DEL, NT1380 deletion Pathogenic
13 WFS1 WFS1, 460, G-A, +1 single nucleotide variant Pathogenic
14 WFS1 NM_006005.3(WFS1): c.676C> T (p.Gln226Ter) single nucleotide variant Pathogenic rs104893880 GRCh37 Chromosome 4, 6293688: 6293688
15 WFS1 NM_006005.3(WFS1): c.676C> T (p.Gln226Ter) single nucleotide variant Pathogenic rs104893880 GRCh38 Chromosome 4, 6291961: 6291961
16 WFS1 NM_006005.3(WFS1): c.2455C> T (p.Gln819Ter) single nucleotide variant Pathogenic rs104893881 GRCh37 Chromosome 4, 6303977: 6303977
17 WFS1 NM_006005.3(WFS1): c.2455C> T (p.Gln819Ter) single nucleotide variant Pathogenic rs104893881 GRCh38 Chromosome 4, 6302250: 6302250
18 WFS1 NM_006005.3(WFS1): c.409_424dup (p.Val142Glyfs) duplication Pathogenic rs1362648752 GRCh37 Chromosome 4, 6290807: 6290822
19 WFS1 NM_006005.3(WFS1): c.409_424dup (p.Val142Glyfs) duplication Pathogenic rs1362648752 GRCh38 Chromosome 4, 6289080: 6289095
20 WFS1 WFS1, 16-BP DEL, NT1362 deletion Pathogenic
21 WFS1 NM_006005.3(WFS1): c.2119G> T (p.Val707Phe) single nucleotide variant Pathogenic rs71524377 GRCh37 Chromosome 4, 6303641: 6303641
22 WFS1 NM_006005.3(WFS1): c.2119G> T (p.Val707Phe) single nucleotide variant Pathogenic rs71524377 GRCh38 Chromosome 4, 6301914: 6301914
23 WFS1 WFS1, 8-BP DEL, NT2106 deletion Pathogenic
24 WFS1 NM_006005.3(WFS1): c.2051C> T (p.Ala684Val) single nucleotide variant Pathogenic rs387906930 GRCh37 Chromosome 4, 6303573: 6303573
25 WFS1 NM_006005.3(WFS1): c.2051C> T (p.Ala684Val) single nucleotide variant Pathogenic rs387906930 GRCh38 Chromosome 4, 6301846: 6301846
26 WFS1 WFS1, 3-BP DEL, VAL415DEL deletion Pathogenic
27 WFS1 WFS1, 4-BP DEL, 1387CTCT deletion Pathogenic
28 WFS1 NM_006005.3(WFS1): c.482G> A (p.Arg161Gln) single nucleotide variant Benign/Likely benign rs115346085 GRCh37 Chromosome 4, 6292945: 6292945
29 WFS1 NM_006005.3(WFS1): c.482G> A (p.Arg161Gln) single nucleotide variant Benign/Likely benign rs115346085 GRCh38 Chromosome 4, 6291218: 6291218
30 WFS1 NM_006005.3(WFS1): c.2209G> A (p.Glu737Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs147834269 GRCh37 Chromosome 4, 6303731: 6303731
31 WFS1 NM_006005.3(WFS1): c.2209G> A (p.Glu737Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs147834269 GRCh38 Chromosome 4, 6302004: 6302004
32 WFS1 NM_006005.3(WFS1): c.716A> G (p.Lys239Arg) single nucleotide variant Uncertain significance rs727503747 GRCh37 Chromosome 4, 6296771: 6296771
33 WFS1 NM_006005.3(WFS1): c.716A> G (p.Lys239Arg) single nucleotide variant Uncertain significance rs727503747 GRCh38 Chromosome 4, 6295044: 6295044
34 WFS1 NM_006005.3(WFS1): c.1957C> T (p.Arg653Cys) single nucleotide variant Uncertain significance rs201064551 GRCh38 Chromosome 4, 6301752: 6301752
35 WFS1 NM_006005.3(WFS1): c.1957C> T (p.Arg653Cys) single nucleotide variant Uncertain significance rs201064551 GRCh37 Chromosome 4, 6303479: 6303479
36 WFS1 NM_006005.3(WFS1): c.1396G> A (p.Gly466Ser) single nucleotide variant Uncertain significance rs727503750 GRCh37 Chromosome 4, 6302918: 6302918
37 WFS1 NM_006005.3(WFS1): c.1396G> A (p.Gly466Ser) single nucleotide variant Uncertain significance rs727503750 GRCh38 Chromosome 4, 6301191: 6301191
38 WFS1 NM_006005.3(WFS1): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic/Likely pathogenic rs71530923 GRCh37 Chromosome 4, 6279306: 6279306
39 WFS1 NM_006005.3(WFS1): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic/Likely pathogenic rs71530923 GRCh38 Chromosome 4, 6277579: 6277579
40 WFS1 NM_006005.3(WFS1): c.683G> A (p.Arg228His) single nucleotide variant Uncertain significance rs150771247 GRCh37 Chromosome 4, 6293695: 6293695
41 WFS1 NM_006005.3(WFS1): c.683G> A (p.Arg228His) single nucleotide variant Uncertain significance rs150771247 GRCh38 Chromosome 4, 6291968: 6291968
42 WFS1 NM_006005.3(WFS1): c.2029G> A (p.Ala677Thr) single nucleotide variant Uncertain significance rs757027394 GRCh37 Chromosome 4, 6303551: 6303551
43 WFS1 NM_006005.3(WFS1): c.2029G> A (p.Ala677Thr) single nucleotide variant Uncertain significance rs757027394 GRCh38 Chromosome 4, 6301824: 6301824
44 WFS1 NM_006005.3(WFS1): c.2263T> C (p.Cys755Arg) single nucleotide variant Likely pathogenic rs797045075 GRCh37 Chromosome 4, 6303785: 6303785
45 WFS1 NM_006005.3(WFS1): c.2263T> C (p.Cys755Arg) single nucleotide variant Likely pathogenic rs797045075 GRCh38 Chromosome 4, 6302058: 6302058
46 WFS1 NM_006005.3(WFS1): c.2648_2651delTCTT (p.Phe883Serfs) deletion Pathogenic/Likely pathogenic rs797045076 GRCh37 Chromosome 4, 6304170: 6304173
47 WFS1 NM_006005.3(WFS1): c.2648_2651delTCTT (p.Phe883Serfs) deletion Pathogenic/Likely pathogenic rs797045076 GRCh38 Chromosome 4, 6302443: 6302446
48 WFS1 NM_006005.3(WFS1): c.728C> T (p.Ala243Val) single nucleotide variant Uncertain significance rs147147660 GRCh38 Chromosome 4, 6295056: 6295056
49 WFS1 NM_006005.3(WFS1): c.728C> T (p.Ala243Val) single nucleotide variant Uncertain significance rs147147660 GRCh37 Chromosome 4, 6296783: 6296783
50 WFS1 NM_006005.3(WFS1): c.817G> A (p.Glu273Lys) single nucleotide variant Uncertain significance rs142428158 GRCh37 Chromosome 4, 6296872: 6296872

Expression for Wolfram Syndrome 1

Search GEO for disease gene expression data for Wolfram Syndrome 1.

Pathways for Wolfram Syndrome 1

GO Terms for Wolfram Syndrome 1

Cellular components related to Wolfram Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.62 ATF6 HSPA5 SYVN1 WFS1
2 endoplasmic reticulum membrane GO:0005789 9.56 ATF6 HSPA5 SYVN1 WFS1
3 dendrite GO:0030425 9.46 AVP COMT TH WFS1
4 smooth endoplasmic reticulum GO:0005790 9.13 HSPA5 SYVN1 TH
5 integral component of endoplasmic reticulum membrane GO:0030176 8.92 ATF6 HSPA5 SYVN1 WFS1

Biological processes related to Wolfram Syndrome 1 according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.65 ATF6 TH WFS1
2 response to organic cyclic compound GO:0014070 9.61 AVP COMT TH
3 response to ethanol GO:0045471 9.59 AVP TH
4 locomotory behavior GO:0007626 9.58 AVP TH
5 response to endoplasmic reticulum stress GO:0034976 9.58 HSPA5 WFS1
6 response to unfolded protein GO:0006986 9.57 ATF6 HSPA5
7 cellular response to drug GO:0035690 9.56 HSPA5 TH
8 positive regulation of protein ubiquitination GO:0031398 9.55 HSPA5 WFS1
9 learning GO:0007612 9.54 COMT TH
10 social behavior GO:0035176 9.52 AVP TH
11 response to nicotine GO:0035094 9.51 AVP TH
12 renal water homeostasis GO:0003091 9.49 AVP WFS1
13 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.46 SYVN1 WFS1
14 ER overload response GO:0006983 9.4 HSPA5 WFS1
15 positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress GO:1990440 9.37 ATF6 HSPA5
16 ubiquitin-dependent ERAD pathway GO:0030433 9.33 HSPA5 SYVN1 WFS1
17 ATF6-mediated unfolded protein response GO:0036500 9.32 ATF6 HSPA5
18 cellular response to manganese ion GO:0071287 9.26 HSPA5 TH
19 IRE1-mediated unfolded protein response GO:0036498 9.13 HSPA5 SYVN1 WFS1
20 endoplasmic reticulum unfolded protein response GO:0030968 8.92 ATF6 HSPA5 SYVN1 WFS1

Molecular functions related to Wolfram Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chaperone binding GO:0051087 9.16 HSPA5 SYVN1
2 ATPase binding GO:0051117 8.96 SYVN1 WFS1
3 ubiquitin protein ligase binding GO:0031625 8.8 ATF6 HSPA5 WFS1

Sources for Wolfram Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
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47 MGI
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55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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