MCID: WLF004
MIFTS: 61

Wolfram Syndrome

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

Aliases & Classifications for Wolfram Syndrome

MalaCards integrated aliases for Wolfram Syndrome:

Name: Wolfram Syndrome 12 72 49 24 55 36 28 13 51 41 14 69
Didmoad Syndrome 49 24 55
Didmoad 12 49 24
Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness 49 24
Diabetes Mellitus and Insipidus with Optic Atrophy and Deafness 12 28
Wfs 12 49
Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome 55
Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness 24
Didmoadud 24

Characteristics:

Orphanet epidemiological data:

55
wolfram syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (United Kingdom),1-9/1000000 (India),1-9/1000000 (Worldwide),1-9/100000,1-9/1000000 (Japan),1-9/1000000 (Europe); Age of onset: Adolescent,Adult,Childhood; Age of death: adult;

Classifications:



Summaries for Wolfram Syndrome

Genetics Home Reference : 24 Wolfram syndrome is a condition that affects many of the body's systems. The hallmark features of Wolfram syndrome are high blood sugar levels resulting from a shortage of the hormone insulin (diabetes mellitus) and progressive vision loss due to degeneration of the nerves that carry information from the eyes to the brain (optic atrophy). People with Wolfram syndrome often also have pituitary gland dysfunction that results in the excretion of excessive amounts of urine (diabetes insipidus), hearing loss caused by changes in the inner ear (sensorineural deafness), urinary tract problems, reduced amounts of the sex hormone testosterone in males (hypogonadism), or neurological or psychiatric disorders.

MalaCards based summary : Wolfram Syndrome, also known as didmoad syndrome, is related to wolfram syndrome 2 and wolfram syndrome 1, and has symptoms including recurrent urinary tract infections, male hypogonadism and nephropathy. An important gene associated with Wolfram Syndrome is WFS1 (Wolframin ER Transmembrane Glycoprotein), and among its related pathways/superpathways are Protein processing in endoplasmic reticulum and Neuroscience. The drugs Acetylcysteine and Deferiprone have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and pituitary, and related phenotypes are behavior/neurological and cardiovascular system

NIH Rare Diseases : 49 Wolfram syndrome, which is also known by the acronym DIDMOAD, is an inherited condition characterized by diabetes insipidus (DI), childhood-onset diabetes mellitus (DM), a gradual loss of vision caused by optic atrophy (OA), and deafness (D). There are two types of Wolfram syndrome (type 1 and type 2) which are primarily differentiated by their genetic cause. Type 1 is caused by changes (mutations) in the WFS1 gene, while type 2 is caused by mutations in the CISD2 gene. Both forms are inherited in an autosomal recessive manner. Treatment is symptomatic and supportive. Last updated: 12/8/2014

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 gene encoding wolframin (WFS1).

Wikipedia : 72 Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and... more...

Related Diseases for Wolfram Syndrome

Diseases in the Wolfram Syndrome family:

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

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

(show all 48)
# Related Disease Score Top Affiliating Genes
1 wolfram syndrome 2 33.6 CISD2 TOMM40 WFS1
2 wolfram syndrome 1 32.5 ATF6 AVP COMT HSPA5 SYVN1 WFS1
3 diabetes insipidus 30.3 AVP CISD2 WFS1
4 diabetes insipidus, neurohypophyseal 29.8 AVP WFS1
5 wolfram syndrome, mitochondrial form 11.9
6 waterhouse-friderichsen syndrome 11.6
7 wolfram-like syndrome, autosomal dominant 11.5
8 mohr-tranebjaerg syndrome 10.9
9 diabetes and deafness, maternally inherited 10.9
10 diabetes mellitus 10.3
11 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
12 branchiootic syndrome 1 10.1
13 neuropathy 10.1
14 3-methylglutaconic aciduria, type iii 10.0 BAMBI CISD2 WFS1
15 sensorineural hearing loss 10.0
16 retinitis 9.9
17 neuronitis 9.9
18 aging 9.9
19 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.9
20 cataract 9.9
21 mitochondrial disorders 9.9
22 arteries, anomalies of 9.7
23 blood group, i system 9.7
24 major affective disorder 1 9.7
25 schizophrenia 9.7
26 major affective disorder 2 9.7
27 major affective disorder 4 9.7
28 major affective disorder 5 9.7
29 major affective disorder 6 9.7
30 major affective disorder 8 9.7
31 major affective disorder 7 9.7
32 major affective disorder 9 9.7
33 microvascular complications of diabetes 5 9.7
34 bardet-biedl syndrome 2 9.7
35 bardet-biedl syndrome 10 9.7
36 bardet-biedl syndrome 11 9.7
37 bardet-biedl syndrome 12 9.7
38 bipolar disorder 9.7
39 coronary artery anomaly 9.7
40 brachydactyly 9.7
41 hypogonadism 9.7
42 bardet-biedl syndrome 9.7
43 thrombophilia 9.7
44 mood disorder 9.7
45 pancreatitis 9.7
46 mitochondrial metabolism disease 9.7
47 pulmonary embolism 9.7
48 organic mood syndrome 9.7

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



Diseases related to Wolfram Syndrome

Symptoms & Phenotypes for Wolfram Syndrome

Human phenotypes related to Wolfram Syndrome:

55 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent urinary tract infections 55 31 frequent (33%) Frequent (79-30%) HP:0000010
2 male hypogonadism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000026
3 nephropathy 55 31 frequent (33%) Frequent (79-30%) HP:0000112
4 sensorineural hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000407
5 glaucoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000501
6 ophthalmoplegia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000602
7 nystagmus 55 31 frequent (33%) Frequent (79-30%) HP:0000639
8 optic atrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0000648
9 dementia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000726
10 hallucinations 55 31 occasional (7.5%) Occasional (29-5%) HP:0000738
11 diabetes mellitus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000819
12 delayed puberty 55 31 occasional (7.5%) Occasional (29-5%) HP:0000823
13 diabetes insipidus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000873
14 intellectual disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001249
15 seizures 55 31 frequent (33%) Frequent (79-30%) HP:0001250
16 ataxia 55 31 frequent (33%) Frequent (79-30%) HP:0001251
17 dysarthria 55 31 frequent (33%) Frequent (79-30%) HP:0001260
18 joint stiffness 55 31 occasional (7.5%) Occasional (29-5%) HP:0001387
19 cardiomyopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0001638
20 anemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001903
21 polydipsia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001959
22 constipation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002019
23 malabsorption 55 31 occasional (7.5%) Occasional (29-5%) HP:0002024
24 respiratory insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0002093
25 cerebral cortical atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0002120
26 gastrointestinal hemorrhage 55 31 occasional (7.5%) Occasional (29-5%) HP:0002239
27 sleep disturbance 55 31 occasional (7.5%) Occasional (29-5%) HP:0002360
28 developmental regression 55 31 occasional (7.5%) Occasional (29-5%) HP:0002376
29 dysautonomia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002459
30 gastric ulcer 55 31 occasional (7.5%) Occasional (29-5%) HP:0002592
31 central apnea 55 31 occasional (7.5%) Occasional (29-5%) HP:0002871
32 myopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0003198
33 feeding difficulties in infancy 55 31 frequent (33%) Frequent (79-30%) HP:0008872
34 peripheral neuropathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0009830
35 dysuria 55 31 frequent (33%) Frequent (79-30%) HP:0100518
36 abnormality of the urinary system 55 Frequent (79-30%)
37 hypogonadism 55 Occasional (29-5%)
38 behavioral abnormality 55 Occasional (29-5%)
39 abnormality of the mesentery 55 Frequent (79-30%)
40 abnormality of mesentery morphology 31 frequent (33%) HP:0100016

UMLS symptoms related to Wolfram Syndrome:


tremor, seizures, ataxia

MGI Mouse Phenotypes related to Wolfram Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 COMT DRD5 EFEMP1 PCSK2 SCG5 SMURF1
2 cardiovascular system MP:0005385 9.97 CISD2 COMT DRD5 EFEMP1 HSPA5 PCSK2
3 mortality/aging MP:0010768 9.93 AVP CISD2 DRD5 EFEMP1 HSPA5 PCSK2
4 endocrine/exocrine gland MP:0005379 9.92 ATF6 CISD2 COMT DRD5 EFEMP1 PCSK2
5 integument MP:0010771 9.86 BAMBI CISD2 EFEMP1 HSPA5 PCSK2 RECK
6 normal MP:0002873 9.5 EFEMP1 HSPA5 SMURF1 SYVN1 AVP BAMBI
7 renal/urinary system MP:0005367 9.17 AVP CISD2 COMT DRD5 EFEMP1 HSPA5

Drugs & Therapeutics for Wolfram Syndrome

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

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 2, Phase 3 616-91-1 12035
2
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
3
Iron Approved Phase 2, Phase 3 7439-89-6 23925
4
Metformin Approved Phase 2, Phase 3 657-24-9 4091 14219
5 Hormone Antagonists Phase 2, Phase 3
6 Hormones Phase 2, Phase 3
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
8 Hypoglycemic Agents Phase 2, Phase 3
9 Incretins Phase 2, Phase 3
10 Antidotes Phase 2, Phase 3
11 Anti-Infective Agents Phase 2, Phase 3
12 Antioxidants Phase 2, Phase 3
13 Antiviral Agents Phase 2, Phase 3
14 Chelating Agents Phase 2, Phase 3
15 Dipeptidyl-Peptidase IV Inhibitors Phase 2, Phase 3
16 Expectorants Phase 2, Phase 3
17 HIV Protease Inhibitors Phase 2, Phase 3
18 Iron Chelating Agents Phase 2, Phase 3
19 N-monoacetylcystine Phase 2, Phase 3
20
protease inhibitors Phase 2, Phase 3
21 Protective Agents Phase 2, Phase 3
22 Respiratory System Agents Phase 2, Phase 3
23 Sitagliptin Phosphate Phase 2, Phase 3
24
Dantrolene Approved, Investigational Phase 1, Phase 2 7261-97-4 6914273 2952
25 Neuromuscular Agents Phase 1, Phase 2
26 Peripheral Nervous System Agents Phase 1, Phase 2
27
Exenatide Approved, Investigational 141758-74-9 15991534
28 Glucagon-Like Peptide 1
29 insulin
30 Insulin, Globin Zinc

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone and Incretin Based Therapy Not yet recruiting NCT02882477 Phase 2, Phase 3 Deferiprone;Acetylcysteine;Sitagliptin and Metformin
2 A Clinical Trial of Dantrolene Sodium in Pediatric and Adult Patients With Wolfram Syndrome Recruiting NCT02829268 Phase 1, Phase 2 dantrolene sodium
3 GLP Analogs for Diabetes in Wolfram Syndrome Patients Unknown status NCT01302327 Exenatide
4 Tracking Neurodegeneration in Early Wolfram Syndrome Recruiting NCT02455414
5 Wolfram Syndrome International Registry and Clinical Study Recruiting NCT02841553

Search NIH Clinical Center for Wolfram Syndrome

Cochrane evidence based reviews: wolfram syndrome

Genetic Tests for Wolfram Syndrome

Genetic tests related to Wolfram Syndrome:

# Genetic test Affiliating Genes
1 Diabetes Mellitus and Insipidus with Optic Atrophy and Deafness 28 WFS1
2 Wolfram Syndrome 28

Anatomical Context for Wolfram Syndrome

MalaCards organs/tissues related to Wolfram Syndrome:

38
Eye, Brain, Pituitary, Pancreas, Hypothalamus, Kidney, Bone

Publications for Wolfram Syndrome

Articles related to Wolfram Syndrome:

(show top 50) (show all 257)
# Title Authors Year
1
Generation of Human-Induced Pluripotent Stem Cells from Wolfram Syndrome Type 2 Patients Bearing the c.103a88+a881G>A CISD2 Mutation for Disease Modeling. ( 29239282 )
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
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions. ( 28475771 )
2017
4
A novel heterozygous mutation of the WFS1 gene leading to constitutive endoplasmic reticulum stress is the cause of Wolfram syndrome. ( 28271591 )
2017
5
Multiple fractures and impaired bone metabolism in Wolfram syndrome: a case report. ( 29263746 )
2017
6
Retinal thickness as a marker of disease progression in longitudinal observation of patients with Wolfram syndrome. ( 28856555 )
2017
7
The effects of disease-related symptoms on daily function in Wolfram Syndrome. ( 29130034 )
2017
8
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions. ( 28335035 )
2017
9
Wfs1- deficient rats develop primary symptoms of Wolfram syndrome: insulin-dependent diabetes, optic nerve atrophy and medullary degeneration. ( 28860598 )
2017
10
A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients. ( 29237418 )
2017
11
Glutathione system in Wolfram syndrome 1a89deficient mice. ( 28901522 )
2017
12
Metabolomics of the Wolfram Syndrome 1 Gene (Wfs1) Deficient Mice. ( 29257731 )
2017
13
Bladder dysfunction in Wolfram syndrome is highly prevalent and progresses to megacystis. ( 29277467 )
2017
14
Previously unreported abnormalities in Wolfram Syndrome Type 2. ( 29073294 )
2017
15
Schizophrenia in Wolfram Syndrome (DIDMOAD Syndrome): A case report in support of the mitochondrial dysfunction hypothesis. ( 28986004 )
2017
16
SERUM METABOLIC FINGERPRINTING IDENTIFIED PUTATIVELY ANNOTATED SPHINGANINE ISOMER AS A BIOMARKER OF WOLFRAM SYNDROME. ( 28895401 )
2017
17
Identification of four novel mutations of the WFS1 gene in Iranian Wolfram syndrome pedigrees. ( 27412528 )
2016
18
Early-onset urological disorders due to Wolfram syndrome: A case of neonatal onset. ( 27212798 )
2016
19
Association of Wolfram syndrome with Fallot tetralogy in a girl. ( 27164349 )
2016
20
Wolfram Syndrome. Case report. ( 28132072 )
2016
21
Be aware of Wolfram syndrome when examining ataxic patients. ( 27314960 )
2016
22
GLP-1-RA corrects mitochondrial labile iron accumulation and improves I^-cell function in type 2 Wolfram syndrome. ( 27459537 )
2016
23
Wolfram Syndrome: Diagnosis, Management, and Treatment. ( 26742931 )
2016
24
A novel compound heterozygous mutation in an adolescent with insulin-dependent diabetes: The challenge of characterizing Wolfram syndrome. ( 27657458 )
2016
25
Role of Mitochondrial Dynamics in Neuronal Development: Mechanism for Wolfram Syndrome. ( 27434582 )
2016
26
Identification of a novel WFS1 homozygous nonsense mutation in Jordanian children with Wolfram syndrome. ( 27617222 )
2016
27
A new mutation in a patient with Wolfram syndrome. ( 27452625 )
2016
28
Bipolar Disorder Type 1 in a 17-Year-Old Girl with Wolfram Syndrome. ( 27045389 )
2016
29
Exenatide Is an Effective Antihyperglycaemic Agent in a Mouse Model of Wolfram Syndrome 1. ( 27069934 )
2016
30
A novel nonsense mutation in the WFS1 gene causes the Wolfram syndrome. ( 26943604 )
2016
31
Fatal Pulmonary Embolism Due to Inherited Thrombophilia Factors in a Child With Wolfram Syndrome. ( 27379531 )
2016
32
Clinical and molecular genetic analysis in three children with Wolfram Syndrome: a novel WFS1 mutation (c.2534T>A). ( 27468121 )
2016
33
c.376G>A mutation in WFS1 gene causes Wolfram syndrome without deafness. ( 26773575 )
2016
34
Clinical utility gene card for: Wolfram syndrome. ( 27222289 )
2016
35
Neuroimaging evidence of deficient axon myelination in Wolfram syndrome. ( 26888576 )
2016
36
[Wolfram syndrome: clinical features, molecular genetics of WFS1 gene]. ( 25764693 )
2015
37
Clinical variability in hereditary optic neuropathies: Two novel mutations in two patients with dominant optic atrophy and Wolfram syndrome. ( 26586986 )
2015
38
Selective cognitive and psychiatric manifestations in Wolfram Syndrome. ( 26025012 )
2015
39
Early-onset central diabetes insipidus is associated with de novo arginine vasopressin-neurophysin II or Wolfram syndrome 1 gene mutations. ( 25740874 )
2015
40
RETRACTION: Wolfram syndrome 1 and adenylyl cyclase 8 interact at the plasma membrane to regulate insulin production and secretion. ( 25679031 )
2015
41
Retinal thinning as a marker of disease progression in patients with Wolfram syndrome. ( 25715420 )
2015
42
Maternal uniparental disomy of chromosomeA 4 and homozygous novel mutation in the WFS1 gene in a paediatric patient with Wolfram syndrome. ( 26169481 )
2015
43
Association of optic atrophy and type 1 diabetes: clinical hallmarks for the diagnosis of Wolfram syndrome. ( 26017216 )
2015
44
Identification of unsuspected Wolfram syndrome cases through clinical assessment and WFS1 gene screening in type 1 diabetes mellitus patients. ( 25895475 )
2015
45
Glycemic variability in patients with Wolfram syndrome is lower than in type 1 diabetes. ( 25916214 )
2015
46
Deletion of the Wolfram syndrome-related gene Wfs1 results in increased sensitivity to ethanol in female mice. ( 25725334 )
2015
47
A Challenging Form of Non-autoimmune Insulin-Dependent Diabetes in a Wolfram Syndrome Patient with a Novel Sequence Variant. ( 26819810 )
2015
48
Wolfram syndrome 2: a novel CISD2 mutation identified in Italian siblings. ( 25371195 )
2014
49
Management of bladder dysfunction in Wolfram syndrome with Mitrofanoff appendicovesicostomy: long-term follow-up. ( 25783330 )
2014
50
Phenotypical and genotypical expression of Wolfram syndrome in 12 patients from a Sicilian district where this syndrome might not be so infrequent as generally expected. ( 24497219 )
2014

Variations for Wolfram Syndrome

ClinVar genetic disease variations for Wolfram Syndrome:

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 WFS1 NM_006005.3(WFS1): c.2119G> T (p.Val707Phe) single nucleotide variant Pathogenic rs71524377 GRCh37 Chromosome 4, 6303641: 6303641
2 WFS1 WFS1, 8-BP DEL, NT2106 deletion Pathogenic
3 WFS1 NM_006005.3(WFS1): c.2051C> T (p.Ala684Val) single nucleotide variant Pathogenic rs387906930 GRCh37 Chromosome 4, 6303573: 6303573
4 WFS1 WFS1, 3-BP DEL, VAL415DEL deletion Pathogenic
5 WFS1 WFS1, 4-BP DEL, 1387CTCT deletion Pathogenic
6 WFS1 NM_006005.3(WFS1): c.1441_1447dupCTGAAGG (p.Val483Alafs) duplication Pathogenic rs727503745 GRCh37 Chromosome 4, 6302963: 6302969
7 WFS1 NM_006005.3(WFS1): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic/Likely pathogenic rs71530923 GRCh37 Chromosome 4, 6279306: 6279306
8 WFS1 WFS1, 2-BP DEL, 2812TC deletion Pathogenic
9 WFS1 WFS1, 15-BP DEL, NT1685 deletion Pathogenic
10 WFS1 NM_006005.3(WFS1): c.2171C> T (p.Pro724Leu) single nucleotide variant Pathogenic rs28937890 GRCh37 Chromosome 4, 6303693: 6303693
11 WFS1 NM_006005.3(WFS1): c.2084G> T (p.Gly695Val) single nucleotide variant Pathogenic rs28937891 GRCh37 Chromosome 4, 6303606: 6303606
12 WFS1 NM_006005.3(WFS1): c.1944G> A (p.Trp648Ter) single nucleotide variant Pathogenic rs104893879 GRCh37 Chromosome 4, 6303466: 6303466
13 WFS1 NM_006005.3(WFS1): c.1511C> T (p.Pro504Leu) single nucleotide variant Pathogenic rs28937892 GRCh37 Chromosome 4, 6303033: 6303033
14 WFS1 WFS1, 7-BP INS, NT1610 insertion Pathogenic
15 WFS1 WFS1, 9-BP DEL, NT1380 deletion Pathogenic
16 WFS1 WFS1, 460, G-A, +1 single nucleotide variant Pathogenic
17 WFS1 NM_006005.3(WFS1): c.676C> T (p.Gln226Ter) single nucleotide variant Pathogenic rs104893880 GRCh37 Chromosome 4, 6293688: 6293688
18 WFS1 NM_006005.3(WFS1): c.2455C> T (p.Gln819Ter) single nucleotide variant Pathogenic rs104893881 GRCh37 Chromosome 4, 6303977: 6303977
19 WFS1 NM_006005.3(WFS1): c.409_424dup16 (p.Val142Glyfs) duplication Pathogenic rs587776598 GRCh37 Chromosome 4, 6290807: 6290822
20 WFS1 NM_006005.3(WFS1): c.2146G> A (p.Ala716Thr) single nucleotide variant Pathogenic/Likely pathogenic rs28937893 GRCh37 Chromosome 4, 6303668: 6303668
21 WFS1 WFS1, 16-BP DEL, NT1362 deletion Pathogenic
22 WFS1 NM_006005.3(WFS1): c.2263T> C (p.Cys755Arg) single nucleotide variant Likely pathogenic rs797045075 GRCh37 Chromosome 4, 6303785: 6303785
23 WFS1 NM_006005.3(WFS1): c.2648_2651delTCTT (p.Phe883Serfs) deletion Pathogenic/Likely pathogenic rs797045076 GRCh37 Chromosome 4, 6304170: 6304173
24 WFS1 NM_006005.3(WFS1): c.873C> G (p.Tyr291Ter) single nucleotide variant Pathogenic rs777580652 GRCh38 Chromosome 4, 6300668: 6300668
25 WFS1 NM_006005.3(WFS1): c.2369C> A (p.Ser790Ter) single nucleotide variant Pathogenic rs369107336 GRCh38 Chromosome 4, 6302164: 6302164
26 WFS1 NM_006005.3(WFS1): c.1060_1062delTTC (p.Phe354del) deletion Pathogenic rs876657735 GRCh37 Chromosome 4, 6302582: 6302584

Expression for Wolfram Syndrome

Search GEO for disease gene expression data for Wolfram Syndrome.

Pathways for Wolfram Syndrome

Pathways related to Wolfram Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Protein processing in endoplasmic reticulum hsa04141

GO Terms for Wolfram Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.85 ATF6 CISD2 HLA-DRB1 HSPA5 SYVN1 WFS1
2 mitochondrial outer membrane GO:0005741 9.5 CISD1 CISD2 TOMM40
3 endoplasmic reticulum membrane GO:0005789 9.43 ATF6 CISD2 HLA-DRB1 HSPA5 SYVN1 WFS1
4 smooth endoplasmic reticulum GO:0005790 9.26 HSPA5 SYVN1
5 integral component of endoplasmic reticulum membrane GO:0030176 8.92 ATF6 HSPA5 SYVN1 WFS1
6 membrane GO:0016020 10 ATF6 BAMBI CISD1 CISD2 COMT DRD5

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 renal water homeostasis GO:0003091 9.49 AVP WFS1
2 peptide hormone processing GO:0016486 9.48 PCSK2 SCG5
3 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.46 SYVN1 WFS1
4 positive regulation of adenylate cyclase activity GO:0045762 9.43 DRD5 WFS1
5 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.43 BAMBI HSPA5 SMURF1
6 ER overload response GO:0006983 9.4 HSPA5 WFS1
7 positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress GO:1990440 9.37 ATF6 HSPA5
8 ubiquitin-dependent ERAD pathway GO:0030433 9.33 HSPA5 SYVN1 WFS1
9 ATF6-mediated unfolded protein response GO:0036500 9.32 ATF6 HSPA5
10 IRE1-mediated unfolded protein response GO:0036498 9.13 HSPA5 SYVN1 WFS1
11 endoplasmic reticulum unfolded protein response GO:0030968 8.92 ATF6 HSPA5 SYVN1 WFS1

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

# Name GO ID Score Top Affiliating Genes
1 2 iron, 2 sulfur cluster binding GO:0051537 8.96 CISD1 CISD2
2 unfolded protein binding GO:0051082 8.8 HSPA5 SCG5 SYVN1

Sources for Wolfram Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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