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WFS1
MCID: WLF013
MIFTS: 54

Wolfram Syndrome 1 (WFS1)

Categories: Blood diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Wolfram Syndrome 1

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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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Eye diseases Neuronal diseases Blood diseases Ear diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 34


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Summaries for Wolfram Syndrome 1

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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 wolfram syndrome, 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, pancreas and thyroid, 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.

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Related Diseases for Wolfram Syndrome 1

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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 29.9 AVP WFS1
2 wolfram syndrome 29.2 ATF6 AVP COMT HSPA5 SYVN1 WFS1
3 mood disorder 29.1 COMT TH
4 wolfram-like syndrome, autosomal dominant 12.1
5 deafness, autosomal dominant 6 11.8
6 cataract 41 11.8
7 wolfram syndrome, mitochondrial form 11.6
8 diabetes mellitus 11.6
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 non-syndromic genetic deafness 11.3
17 insulinoma 11.2
18 wfs1-related disorders 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 maternal uniparental disomy of chromosome 4 11.0
37 cleft palate, isolated 10.9
38 duane retraction syndrome 1 10.9
39 laryngomalacia 10.9
40 dandy-walker syndrome 10.9
41 marden-walker syndrome 10.9
42 night blindness, congenital stationary, type 1a 10.9
43 diaphragmatic eventration 10.9
44 diaphragm 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
Sources

Symptoms & Phenotypes for Wolfram Syndrome 1

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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
Sources

Drugs & Therapeutics for Wolfram Syndrome 1

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

(show all 10)
# 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 Hormone Antagonists
6 Hormones, Hormone Substitutes, and Hormone Antagonists
7 Hypoglycemic Agents
8 Hormones
9 Glucagon-Like Peptide 1
10 Incretins

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 Wolfram Syndrome International Registry and Clinical Study Recruiting NCT02841553

Search NIH Clinical Center for Wolfram Syndrome 1

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Genetic Tests for Wolfram Syndrome 1

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Anatomical Context for Wolfram Syndrome 1

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MalaCards organs/tissues related to Wolfram Syndrome 1:

42
Brain, Pancreas, Thyroid, Hypothalamus, Pancreatic Islet
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Publications for Wolfram Syndrome 1

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Articles related to Wolfram Syndrome 1:

(show top 50) (show all 58)
# Title Authors Year
1
Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease. ( 29774890 )
2018
2
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
3
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
4
Correction: Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease. ( 30171196 )
2018
5
Mild stress induces brain region-specific alterations of selective ER stress markers' mRNA expression in Wfs1-deficient mice. ( 28963041 )
2018
6
Hippocampus and Hypothalamus RNA-sequencing of WFS1-deficient Mice. ( 29406269 )
2018
7
WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis. ( 29529044 )
2018
8
Altered expression of WFS1 and NOTCH2 genes associated with diabetic nephropathy in T2DM patients. ( 29626590 )
2018
9
Muscarinic Agonist Ameliorates Insulin Secretion in Wfs1-Deficient Mice. ( 30266217 )
2018
10
Increased Mitochondrial Protein Levels and Bioenergetics in the Musculus Rectus Femoris of Wfs1-Deficient Mice. ( 30584460 )
2018
11
Metabolomics of the Wolfram Syndrome 1 Gene (Wfs1) Deficient Mice. ( 29257731 )
2017
12
Association of CpG-SNP and 3'UTR-SNP of WFS1 with the Risk of Type 2 Diabetes Mellitus in an Iranian Population. ( 29988211 )
2017
13
Wfs1 is expressed in dopaminoceptive regions of the amniote brain and modulates levels of D1-like receptors. ( 28267787 )
2017
14
A nonsynonymous mutation in the WFS1 gene in a Finnish family with age-related hearing impairment. ( 28974383 )
2017
15
Exenatide Is an Effective Antihyperglycaemic Agent in a Mouse Model of Wolfram Syndrome 1. ( 27069934 )
2016
16
Expression pattern of wolframin, the WFS1 (Wolfram syndrome-1 gene) product, in common marmoset (Callithrix jacchus) cochlea. ( 27341211 )
2016
17
RNA-sequencing of WFS1-deficient pancreatic islets. ( 27053292 )
2016
18
Variability in the effect of antidepressants upon Wfs1-deficient mice is dependent on the drugs' mechanism of actions. ( 27080063 )
2016
19
A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report. ( 27217304 )
2016
20
Early-onset central diabetes insipidus is associated with de novo arginine vasopressin-neurophysin II or Wolfram syndrome 1 gene mutations. ( 25740874 )
2015
21
RETRACTION: Wolfram syndrome 1 and adenylyl cyclase 8 interact at the plasma membrane to regulate insulin production and secretion. ( 25679031 )
2015
22
ATF6β regulates the Wfs1 gene and has a cell survival role in the ER stress response in pancreatic β-cells. ( 25447309 )
2015
23
Prohormone convertase 2 activity is increased in the hippocampus of Wfs1 knockout mice. ( 26379490 )
2015
24
Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1. ( 26435059 )
2015
25
Sarco(endo)plasmic reticulum ATPase is a molecular partner of Wolfram syndrome 1 protein, which negatively regulates its expression. ( 25274773 )
2014
26
Initiation and developmental dynamics of Wfs1 expression in the context of neural differentiation and ER stress in mouse forebrain. ( 24694561 )
2014
27
Energy metabolism and thyroid function of mice with deleted wolframin (Wfs1) gene. ( 24710642 )
2014
28
Impairment of visual function and retinal ER stress activation in Wfs1-deficient mice. ( 24823368 )
2014
29
Autosomal dominant diabetes arising from a Wolfram syndrome 1 mutation. ( 23903355 )
2013
30
Vacuolar-type H+-ATPase V1A subunit is a molecular partner of Wolfram syndrome 1 (WFS1) protein, which regulates its expression and stability. ( 23035048 )
2013
31
Silencing of the WFS1 gene in HEK cells induces pathways related to neurodegeneration and mitochondrial damage. ( 23321269 )
2013
32
Wfs1-deficient mice display altered function of serotonergic system and increased behavioral response to antidepressants. ( 23914152 )
2013
33
Wolfram syndrome 1 and Wolfram syndrome 2. ( 22790102 )
2012
34
Wolfram syndrome 1 and adenylyl cyclase 8 interact at the plasma membrane to regulate insulin production and secretion. ( 22983116 )
2012
35
Circadian rhythms and food anticipatory behavior in Wfs1-deficient mice. ( 22800759 )
2012
36
Wolfram syndrome 1 gene (WFS1) product localizes to secretory granules and determines granule acidification in pancreatic beta-cells. ( 21199859 )
2011
37
Impaired striatal dopamine output of homozygous Wfs1 mutant mice in response to [K+] challenge. ( 20972658 )
2011
38
Sex differences in the development of diabetes in mice with deleted wolframin (Wfs1) gene. ( 21031341 )
2011
39
Hypothalamic gene expression profile indicates a reduction in G protein signaling in the Wfs1 mutant mice. ( 22028430 )
2011
40
Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells. ( 20160352 )
2010
41
Relation of exploratory behaviour to plasma corticosterone and Wfs1 gene expression in Wistar rats. ( 19346280 )
2010
42
Expression and localization of Wolfram syndrome 1 gene in the developing rat pancreas. ( 19916172 )
2009
43
Wolfram syndrome 1 (Wfs1) mRNA expression in the normal mouse brain during postnatal development. ( 19428703 )
2009
44
WFS1 gene as a putative biomarker for development of post-traumatic syndrome in an animal model. ( 17968352 )
2009
45
Wfs1-deficient mice display impaired behavioural adaptation in stressful environment. ( 19041897 )
2009
46
Increased insulin demand promotes while pioglitazone prevents pancreatic beta cell apoptosis in Wfs1 knockout mice. ( 19190890 )
2009
47
Wfs1 gene deletion causes growth retardation in mice and interferes with the growth hormone pathway. ( 19293327 )
2009
48
Relation between increased anxiety and reduced expression of alpha1 and alpha2 subunits of GABA(A) receptors in Wfs1-deficient mice. ( 19477223 )
2009
49
Wolfram syndrome 1 (Wfs1) gene expression in the normal mouse visual system. ( 18613120 )
2008
50
Cat odor exposure induces distinct changes in the exploratory behavior and Wfs1 gene expression in C57Bl/6 and 129Sv mice. ( 17884289 )
2007
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Variations for Wolfram Syndrome 1

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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 51)
# Gene Variation Type Significance SNP ID Assembly Location
1 WFS1 NM_006005.3(WFS1): c.1957C> T (p.Arg653Cys) single nucleotide variant Uncertain significance rs201064551 GRCh37 Chromosome 4, 6303479: 6303479
2 WFS1 NM_006005.3(WFS1): c.1957C> T (p.Arg653Cys) single nucleotide variant Uncertain significance rs201064551 GRCh38 Chromosome 4, 6301752: 6301752
3 WFS1 NM_006005.3(WFS1): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic/Likely pathogenic rs71530923 GRCh37 Chromosome 4, 6279306: 6279306
4 WFS1 NM_006005.3(WFS1): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic/Likely pathogenic rs71530923 GRCh38 Chromosome 4, 6277579: 6277579
5 WFS1 NM_006005.3(WFS1): c.683G> A (p.Arg228His) single nucleotide variant Uncertain significance rs150771247 GRCh37 Chromosome 4, 6293695: 6293695
6 WFS1 NM_006005.3(WFS1): c.683G> A (p.Arg228His) single nucleotide variant Uncertain significance rs150771247 GRCh38 Chromosome 4, 6291968: 6291968
7 WFS1 NM_006005.3(WFS1): c.2263T> C (p.Cys755Arg) single nucleotide variant Likely pathogenic rs797045075 GRCh37 Chromosome 4, 6303785: 6303785
8 WFS1 NM_006005.3(WFS1): c.2263T> C (p.Cys755Arg) single nucleotide variant Likely pathogenic rs797045075 GRCh38 Chromosome 4, 6302058: 6302058
9 WFS1 NM_006005.3(WFS1): c.2648_2651delTCTT (p.Phe883Serfs) deletion Pathogenic/Likely pathogenic rs797045076 GRCh37 Chromosome 4, 6304170: 6304173
10 WFS1 NM_006005.3(WFS1): c.2648_2651delTCTT (p.Phe883Serfs) deletion Pathogenic/Likely pathogenic rs797045076 GRCh38 Chromosome 4, 6302443: 6302446
11 WFS1 WFS1, 2-BP DEL, 2812TC deletion Pathogenic
12 WFS1 WFS1, 15-BP DEL, NT1685 deletion Pathogenic
13 WFS1 NM_006005.3(WFS1): c.2171C> T (p.Pro724Leu) single nucleotide variant Uncertain significance rs28937890 GRCh37 Chromosome 4, 6303693: 6303693
14 WFS1 NM_006005.3(WFS1): c.2171C> T (p.Pro724Leu) single nucleotide variant Uncertain significance rs28937890 GRCh38 Chromosome 4, 6301966: 6301966
15 WFS1 NM_006005.3(WFS1): c.2084G> T (p.Gly695Val) single nucleotide variant Pathogenic rs28937891 GRCh37 Chromosome 4, 6303606: 6303606
16 WFS1 NM_006005.3(WFS1): c.2084G> T (p.Gly695Val) single nucleotide variant Pathogenic rs28937891 GRCh38 Chromosome 4, 6301879: 6301879
17 WFS1 NM_006005.3(WFS1): c.1944G> A (p.Trp648Ter) single nucleotide variant Pathogenic rs104893879 GRCh37 Chromosome 4, 6303466: 6303466
18 WFS1 NM_006005.3(WFS1): c.1944G> A (p.Trp648Ter) single nucleotide variant Pathogenic rs104893879 GRCh38 Chromosome 4, 6301739: 6301739
19 WFS1 NM_006005.3(WFS1): c.1511C> T (p.Pro504Leu) single nucleotide variant Pathogenic rs28937892 GRCh37 Chromosome 4, 6303033: 6303033
20 WFS1 NM_006005.3(WFS1): c.1511C> T (p.Pro504Leu) single nucleotide variant Pathogenic rs28937892 GRCh38 Chromosome 4, 6301306: 6301306
21 WFS1 WFS1, 7-BP INS, NT1610 insertion Pathogenic
22 WFS1 WFS1, 9-BP DEL, NT1380 deletion Pathogenic
23 WFS1 WFS1, 460, G-A, +1 single nucleotide variant Pathogenic
24 WFS1 NM_006005.3(WFS1): c.676C> T (p.Gln226Ter) single nucleotide variant Pathogenic rs104893880 GRCh37 Chromosome 4, 6293688: 6293688
25 WFS1 NM_006005.3(WFS1): c.676C> T (p.Gln226Ter) single nucleotide variant Pathogenic rs104893880 GRCh38 Chromosome 4, 6291961: 6291961
26 WFS1 NM_006005.3(WFS1): c.2455C> T (p.Gln819Ter) single nucleotide variant Pathogenic rs104893881 GRCh37 Chromosome 4, 6303977: 6303977
27 WFS1 NM_006005.3(WFS1): c.2455C> T (p.Gln819Ter) single nucleotide variant Pathogenic rs104893881 GRCh38 Chromosome 4, 6302250: 6302250
28 WFS1 NM_006005.3(WFS1): c.409_424dup (p.Val142Glyfs) duplication Pathogenic rs1362648752 GRCh37 Chromosome 4, 6290807: 6290822
29 WFS1 NM_006005.3(WFS1): c.409_424dup (p.Val142Glyfs) duplication Pathogenic rs1362648752 GRCh38 Chromosome 4, 6289080: 6289095
30 WFS1 WFS1, 16-BP DEL, NT1362 deletion Pathogenic
31 WFS1 WFS1, 8-BP DEL, NT2106 deletion Pathogenic
32 WFS1 NM_006005.3(WFS1): c.2119G> T (p.Val707Phe) single nucleotide variant Pathogenic rs71524377 GRCh37 Chromosome 4, 6303641: 6303641
33 WFS1 NM_006005.3(WFS1): c.2119G> T (p.Val707Phe) single nucleotide variant Pathogenic rs71524377 GRCh38 Chromosome 4, 6301914: 6301914
34 WFS1 NM_006005.3(WFS1): c.2051C> T (p.Ala684Val) single nucleotide variant Pathogenic rs387906930 GRCh37 Chromosome 4, 6303573: 6303573
35 WFS1 NM_006005.3(WFS1): c.2051C> T (p.Ala684Val) single nucleotide variant Pathogenic rs387906930 GRCh38 Chromosome 4, 6301846: 6301846
36 WFS1 WFS1, 3-BP DEL, VAL415DEL deletion Pathogenic
37 WFS1 WFS1, 4-BP DEL, 1387CTCT deletion Pathogenic
38 WFS1 NM_006005.3(WFS1): c.482G> A (p.Arg161Gln) single nucleotide variant Benign/Likely benign rs115346085 GRCh37 Chromosome 4, 6292945: 6292945
39 WFS1 NM_006005.3(WFS1): c.482G> A (p.Arg161Gln) single nucleotide variant Benign/Likely benign rs115346085 GRCh38 Chromosome 4, 6291218: 6291218
40 WFS1 NM_006005.3(WFS1): c.2209G> A (p.Glu737Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs147834269 GRCh37 Chromosome 4, 6303731: 6303731
41 WFS1 NM_006005.3(WFS1): c.2209G> A (p.Glu737Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs147834269 GRCh38 Chromosome 4, 6302004: 6302004
42 WFS1 NM_001145853.1(WFS1): c.1079G> A (p.Cys360Tyr) single nucleotide variant Uncertain significance rs147157374 GRCh38 Chromosome 4, 6300874: 6300874
43 WFS1 NM_001145853.1(WFS1): c.1079G> A (p.Cys360Tyr) single nucleotide variant Uncertain significance rs147157374 GRCh37 Chromosome 4, 6302601: 6302601
44 WFS1 NM_001145853.1(WFS1): c.2191A> G (p.Met731Val) single nucleotide variant Uncertain significance rs144010362 GRCh38 Chromosome 4, 6301986: 6301986
45 WFS1 NM_001145853.1(WFS1): c.2191A> G (p.Met731Val) single nucleotide variant Uncertain significance rs144010362 GRCh37 Chromosome 4, 6303713: 6303713
46 HERC2 NM_004667.5(HERC2): c.7617+4A> C single nucleotide variant not provided GRCh37 Chromosome 15, 28447255: 28447255
47 HERC2 NM_004667.5(HERC2): c.7617+4A> C single nucleotide variant not provided GRCh38 Chromosome 15, 28202109: 28202109
48 WFS1 NM_006005.3: c.439delC deletion Pathogenic GRCh38 Chromosome 4, 6289110: 6289110
49 WFS1 NM_006005.3: c.439delC deletion Pathogenic GRCh37 Chromosome 4, 6290837: 6290837
50 WFS1 NM_006005.3(WFS1): c.568_570AAG[3] (p.Lys193del) deletion Likely pathogenic GRCh37 Chromosome 4, 6293040: 6293042
Sources

Expression for Wolfram Syndrome 1

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

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Pathways related to Wolfram Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Neuroscience 4
11.99 AVP COMT TH WFS1
2
Unfolded Protein Response (UPR) 67
Show member pathways
 11.62 ATF6 HSPA5 SYVN1 WFS1
3
Tyrosine metabolism 38
Show member pathways
 11.31 COMT TH
4
PERK regulates gene expression 67
Show member pathways
 11.16 ATF6 HSPA5
5
Protein processing in endoplasmic reticulum 38
11.14 ATF6 HSPA5 SYVN1 WFS1
6
Photodynamic therapy-induced unfolded protein response 1
10.83 ATF6 HSPA5
7
Biogenic Amine Synthesis 1
Show member pathways
 10.66 COMT TH
8
Dopamine metabolism 1
10.4 COMT TH
Sources

GO Terms for Wolfram Syndrome 1

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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

Sources for Wolfram Syndrome 1

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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
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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