MCID: WLF004
MIFTS: 60

Wolfram Syndrome

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

Aliases & Classifications for Wolfram Syndrome

MalaCards integrated aliases for Wolfram Syndrome:

Name: Wolfram Syndrome 12 77 54 26 60 38 30 13 56 6 45 15 74
Diabetes Mellitus and Insipidus with Optic Atrophy and Deafness 12 30 6 41
Didmoad Syndrome 54 26 60
Didmoad 12 54 26
Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness 54 26
Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome 60
Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness 26
Didmoadud 26
Wfs 54

Characteristics:

Orphanet epidemiological data:

60
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

NIH Rare Diseases : 54 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). Other symptoms may include bladder and bowel dysfunction, problems with the parts of the inner ear and brain that help control balance and eye movements (vestibular deficits), temperature regulation problems, decreased balance, uncoordinated (ataxic) gait and olfactory deficits. Also, psychiatric symptoms such as anxiety and depression have also been noted in some cases. 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. However, some cases of  Wolfram syndrome type 1 have an autosomal dominant inheritance and are more severe. Diagnosis is suspected in cases of childhood-onset diabetes mellitus and optic atrophy, and this visual impairment is not due to the diabetes. Treatment is symptomatic and supportive.

MalaCards based summary : Wolfram Syndrome, also known as diabetes mellitus and insipidus with optic atrophy and deafness, is related to wolfram syndrome 2 and wolfram syndrome 1, and has symptoms including seizures, ataxia and tremor. 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 diabetes mellitus and sensorineural hearing impairment

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).

Genetics Home Reference : 26 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.

Wikipedia : 77 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 top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 wolfram syndrome 2 33.9 CISD2 TOMM40 WFS1
2 wolfram syndrome 1 33.4 ATF6 AVP HSPA5 TH WFS1
3 3-methylglutaconic aciduria, type iii 30.8 BAMBI CISD2 WFS1
4 diabetes insipidus 30.6 AVP CISD2 WFS1
5 wolfram syndrome, mitochondrial form 12.1
6 wolfram-like syndrome, autosomal dominant 11.9
7 waterhouse-friderichsen syndrome 11.2
8 mohr-tranebjaerg syndrome 11.1
9 diabetes and deafness, maternally inherited 11.1
10 diabetes mellitus 10.5
11 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
12 neuropathy 10.2
13 sensorineural hearing loss 10.2
14 optic nerve disease 10.2
15 adenoma 10.1
16 pituitary tumors 10.1
17 waardenburg syndrome, type 1 10.1 CISD2 WFS1
18 cataract 10.0
19 wfs1-related disorders 10.0
20 deafness, autosomal dominant 6 10.0 CISD2 WFS1
21 juvenile glaucoma 10.0
22 myopia 10.0
23 leber hereditary optic neuropathy 10.0
24 growth hormone deficiency 10.0
25 arteries, anomalies of 9.9
26 major affective disorder 1 9.9
27 rheumatoid arthritis 9.9
28 schizophrenia 9.9
29 alstrom syndrome 9.9
30 ichthyosis prematurity syndrome 9.9
31 major affective disorder 8 9.9
32 major affective disorder 7 9.9
33 major affective disorder 9 9.9
34 microvascular complications of diabetes 5 9.9
35 bardet-biedl syndrome 2 9.9
36 bardet-biedl syndrome 10 9.9
37 bardet-biedl syndrome 11 9.9
38 bardet-biedl syndrome 12 9.9
39 bipolar disorder 9.9
40 coronary artery anomaly 9.9
41 brachydactyly 9.9
42 glucose intolerance 9.9
43 hypogonadism 9.9
44 bardet-biedl syndrome 9.9
45 thrombophilia 9.9
46 mood disorder 9.9
47 hypogonadotropism 9.9
48 retinal degeneration 9.9
49 pulmonary embolism 9.9
50 bowenoid papulosis 9.9

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:

60 33 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diabetes mellitus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000819
2 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
3 optic atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000648
4 polydipsia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001959
5 diabetes insipidus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000873
6 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
7 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
8 ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0001251
9 dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0001260
10 feeding difficulties in infancy 60 33 frequent (33%) Frequent (79-30%) HP:0008872
11 nephropathy 60 33 frequent (33%) Frequent (79-30%) HP:0000112
12 recurrent urinary tract infections 60 33 frequent (33%) Frequent (79-30%) HP:0000010
13 dysuria 60 33 frequent (33%) Frequent (79-30%) HP:0100518
14 abnormality of mesentery morphology 33 frequent (33%) HP:0100016
15 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
16 constipation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002019
17 respiratory insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0002093
18 sleep disturbance 60 33 occasional (7.5%) Occasional (29-5%) HP:0002360
19 developmental regression 60 33 occasional (7.5%) Occasional (29-5%) HP:0002376
20 hallucinations 60 33 occasional (7.5%) Occasional (29-5%) HP:0000738
21 joint stiffness 60 33 occasional (7.5%) Occasional (29-5%) HP:0001387
22 malabsorption 60 33 occasional (7.5%) Occasional (29-5%) HP:0002024
23 delayed puberty 60 33 occasional (7.5%) Occasional (29-5%) HP:0000823
24 myopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003198
25 anemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001903
26 peripheral neuropathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0009830
27 cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001638
28 cerebral cortical atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0002120
29 ophthalmoplegia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000602
30 male hypogonadism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000026
31 glaucoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000501
32 dementia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000726
33 gastrointestinal hemorrhage 60 33 occasional (7.5%) Occasional (29-5%) HP:0002239
34 gastric ulcer 60 33 occasional (7.5%) Occasional (29-5%) HP:0002592
35 central apnea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002871
36 abnormal autonomic nervous system physiology 33 occasional (7.5%) HP:0012332
37 dysautonomia 60 Occasional (29-5%)
38 behavioral abnormality 60 Occasional (29-5%)
39 hypogonadism 60 Occasional (29-5%)
40 abnormality of the urinary system 60 Frequent (79-30%)
41 abnormality of the mesentery 60 Frequent (79-30%)

UMLS symptoms related to Wolfram Syndrome:


seizures, ataxia, tremor

MGI Mouse Phenotypes related to Wolfram Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 AVP BAMBI CISD2 DRD5 EFEMP1 PCSK2
2 growth/size/body region MP:0005378 10.02 ATF6 BAMBI CISD2 EFEMP1 HSPA5 RECK
3 cardiovascular system MP:0005385 10.01 CISD2 DRD5 EFEMP1 HSPA5 PCSK2 RECK
4 endocrine/exocrine gland MP:0005379 9.97 ATF6 CISD2 DRD5 EFEMP1 PCSK2 SCG5
5 mortality/aging MP:0010768 9.93 ATF6 AVP CISD2 DRD5 EFEMP1 HSPA5
6 integument MP:0010771 9.91 BAMBI CISD2 EFEMP1 HSPA5 PCSK2 RECK
7 normal MP:0002873 9.5 AVP BAMBI DRD5 EFEMP1 HSPA5 SMURF1
8 renal/urinary system MP:0005367 9.1 AVP CISD2 DRD5 EFEMP1 HSPA5 PCSK2

Drugs & Therapeutics for Wolfram Syndrome

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

(show all 41)
# 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
Metformin Approved Phase 2, Phase 3 657-24-9 14219 4091
4
Iron Approved, Experimental Phase 2, Phase 3 7439-89-6, 15438-31-0 27284 23925
5 Protective Agents Phase 2, Phase 3
6 Free Radical Scavengers Phase 2, Phase 3
7 Incretins Phase 2, Phase 3,Not Applicable
8 Iron Chelating Agents Phase 2, Phase 3
9 Sitagliptin Phosphate Phase 2, Phase 3
10 Anti-Infective Agents Phase 2, Phase 3
11 HIV Protease Inhibitors Phase 2, Phase 3
12 Antidotes Phase 2, Phase 3
13 Hormone Antagonists Phase 2, Phase 3,Not Applicable
14
protease inhibitors Phase 2, Phase 3
15 Hypoglycemic Agents Phase 2, Phase 3,Not Applicable
16 Chelating Agents Phase 2, Phase 3
17 Respiratory System Agents Phase 2, Phase 3
18 Hormones Phase 2, Phase 3,Not Applicable
19 Dipeptidyl-Peptidase IV Inhibitors Phase 2, Phase 3
20 Antioxidants Phase 2, Phase 3
21 N-monoacetylcystine Phase 2, Phase 3
22 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Not Applicable
23 Expectorants Phase 2, Phase 3
24 Antiviral Agents Phase 2, Phase 3
25
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
26
Dantrolene Approved, Investigational Phase 1, Phase 2 7261-97-4 6914273 2952
27 Anticonvulsants Phase 2
28 GABA Agents Phase 2
29 Central Nervous System Depressants Phase 2
30 Neurotransmitter Agents Phase 2
31 Tranquilizing Agents Phase 2
32 Psychotropic Drugs Phase 2
33 Antimanic Agents Phase 2
34 Neuromuscular Agents Phase 1, Phase 2
35 Peripheral Nervous System Agents Phase 1, Phase 2
36
Exenatide Approved, Investigational Not Applicable 141758-74-9 15991534
37 Anti-Obesity Agents Not Applicable
38 Glucagon-Like Peptide 1 Not Applicable
39 Insulin, Globin Zinc
40 insulin
41 Arginine Vasopressin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone and Incretin Based Therapy Unknown status NCT02882477 Phase 2, Phase 3 Deferiprone;Acetylcysteine;Sitagliptin and Metformin
2 Efficacy and Safety Trial of Sodium Valproate, in Paediatric and Adult Patients With Wolfram Syndrome Recruiting NCT03717909 Phase 2 Sodium Valproate 200Mg E/C Tablet;Sodium Valproate matched placebo
3 A Clinical Trial of Dantrolene Sodium in Pediatric and Adult Patients With Wolfram Syndrome Recruiting NCT02829268 Phase 1, Phase 2 dantrolene sodium
4 GLP Analogs for Diabetes in Wolfram Syndrome Patients Unknown status NCT01302327 Not Applicable Exenatide
5 Tracking Neurodegeneration in Early Wolfram Syndrome Completed NCT02455414
6 I-Tracking Neurodegeneration in Early Wolfram Syndrome Recruiting NCT03951298
7 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 30 WFS1
2 Wolfram Syndrome 30

Anatomical Context for Wolfram Syndrome

MalaCards organs/tissues related to Wolfram Syndrome:

42
Eye, Brain, Pituitary, Pancreas, Kidney, Testes, Hypothalamus

Publications for Wolfram Syndrome

Articles related to Wolfram Syndrome:

(show top 50) (show all 291)
# Title Authors Year
1
Evidence of retinal degeneration in Wolfram syndrome. ( 30507261 )
2019
2
Evidence for altered neurodevelopment and neurodegeneration in Wolfram syndrome using longitudinal morphometry. ( 30979932 )
2019
3
Ophthalmic, systemic, and genetic characteristics of patients with Wolfram syndrome. ( 30957632 )
2019
4
Juvenile Diabetes & Visual Impairment: Wolfram Syndrome. ( 30888424 )
2019
5
Optical coherence tomography-angiography in Wolfram syndrome: a mitochondrial etiology in disease pathophysiology. ( 30851792 )
2019
6
Optical coherence tomography and magnetic resonance imaging visual pathway evaluation in Wolfram syndrome. ( 30246501 )
2019
7
Ophthalmologic Manifestations of Wolfram Syndrome: Report of 14 Cases. ( 30056456 )
2019
8
Preventive treatment with liraglutide protects against development of glucose intolerance in a rat model of Wolfram syndrome. ( 29976929 )
2018
9
Genetic Testing for Wolfram Syndrome Mutations in a Sample of 71 Patients with Hereditary Optic Neuropathy and Negative Genetic Test Results for OPA1/OPA3/LHON. ( 29563951 )
2018
10
ER-mitochondria cross-talk is regulated by the Ca2+ sensor NCS1 and is impaired in Wolfram syndrome. ( 30352948 )
2018
11
A case of Wolfram syndrome with chronic renal failure. ( 30286575 )
2018
12
Correction: Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease. ( 30171196 )
2018
13
Activation of GLP-1 receptor signalling alleviates cellular stresses and improves beta cell function in a mouse model of Wolfram syndrome. ( 30054673 )
2018
14
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
15
Longitudinal hearing loss in Wolfram syndrome. ( 29945639 )
2018
16
Lower Urinary Tract Dysfunction and Associated Pons Volume in Patients with Wolfram Syndrome. ( 29883657 )
2018
17
Understanding activity participation among individuals with Wolfram Syndrome. ( 29861534 )
2018
18
Wolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential Therapies. ( 29850290 )
2018
19
Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease. ( 29774890 )
2018
20
Natural history and clinical characteristics of 50 patients with Wolfram syndrome. ( 29728875 )
2018
21
Visual pathway function and structure in Wolfram syndrome: patient age, variation and progression. ( 29657975 )
2018
22
A novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome: a case report. ( 29549887 )
2018
23
Wolfram syndrome: MAMs' connection? ( 29511163 )
2018
24
Clinical Characteristics of Wolfram Syndrome in Chinese Population and a Novel Frameshift Mutation in WFS1. ( 29483894 )
2018
25
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
26
Bladder dysfunction in Wolfram syndrome is highly prevalent and progresses to megacystis. ( 29277467 )
2018
27
Generation of Human-Induced Pluripotent Stem Cells from Wolfram Syndrome Type 2 Patients Bearing the c.103 + 1G>A CISD2 Mutation for Disease Modeling. ( 29239282 )
2018
28
Schizophrenia in Wolfram Syndrome (DIDMOAD Syndrome): A case report in support of the mitochondrial dysfunction hypothesis. ( 28986004 )
2018
29
A new mutation in a patient with Wolfram syndrome. ( 27452625 )
2018
30
Multiple fractures and impaired bone metabolism in Wolfram syndrome: a case report. ( 29263746 )
2017
31
Metabolomics of the Wolfram Syndrome 1 Gene (Wfs1) Deficient Mice. ( 29257731 )
2017
32
A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients. ( 29237418 )
2017
33
The effects of disease-related symptoms on daily function in Wolfram Syndrome. ( 29130034 )
2017
34
Previously unreported abnormalities in Wolfram Syndrome Type 2. ( 29073294 )
2017
35
Glutathione system in Wolfram syndrome 1‑deficient mice. ( 28901522 )
2017
36
Serum Metabolic Fingerprinting Identified Putatively Annotated Sphinganine Isomer as a Biomarker of Wolfram Syndrome. ( 28895401 )
2017
37
Wfs1- deficient rats develop primary symptoms of Wolfram syndrome: insulin-dependent diabetes, optic nerve atrophy and medullary degeneration. ( 28860598 )
2017
38
Retinal thickness as a marker of disease progression in longitudinal observation of patients with Wolfram syndrome. ( 28856555 )
2017
39
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions. ( 28475771 )
2017
40
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions. ( 28335035 )
2017
41
A novel heterozygous mutation of the WFS1 gene leading to constitutive endoplasmic reticulum stress is the cause of Wolfram syndrome. ( 28271591 )
2017
42
Clinical and Molecular Genetic Analysis in Three Children with Wolfram Syndrome: A Novel WFS1 Mutation (c.2534T>A). ( 27468121 )
2017
43
Bipolar Disorder Type 1 in a 17-Year-Old Girl with Wolfram Syndrome. ( 27045389 )
2016
44
Fatal Pulmonary Embolism Due to Inherited Thrombophilia Factors in a Child With Wolfram Syndrome. ( 27379531 )
2016
45
Wolfram Syndrome. Case report. ( 28132072 )
2016
46
A novel compound heterozygous mutation in an adolescent with insulin-dependent diabetes: The challenge of characterizing Wolfram syndrome. ( 27657458 )
2016
47
Identification of a novel WFS1 homozygous nonsense mutation in Jordanian children with Wolfram syndrome. ( 27617222 )
2016
48
GLP-1-RA Corrects Mitochondrial Labile Iron Accumulation and Improves β-Cell Function in Type 2 Wolfram Syndrome. ( 27459537 )
2016
49
Role of Mitochondrial Dynamics in Neuronal Development: Mechanism for Wolfram Syndrome. ( 27434582 )
2016
50
Identification of four novel mutations of the WFS1 gene in Iranian Wolfram syndrome pedigrees. ( 27412528 )
2016

Variations for Wolfram Syndrome

ClinVar genetic disease variations for Wolfram Syndrome:

6 (show top 50) (show all 87)
# 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.1672C> T (p.Arg558Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199946797 GRCh37 Chromosome 4, 6303194: 6303194
45 WFS1 NM_006005.3(WFS1): c.1672C> T (p.Arg558Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199946797 GRCh38 Chromosome 4, 6301467: 6301467
46 WFS1 NM_006005.3(WFS1): c.2263T> C (p.Cys755Arg) single nucleotide variant Likely pathogenic rs797045075 GRCh37 Chromosome 4, 6303785: 6303785
47 WFS1 NM_006005.3(WFS1): c.2263T> C (p.Cys755Arg) single nucleotide variant Likely pathogenic rs797045075 GRCh38 Chromosome 4, 6302058: 6302058
48 WFS1 NM_006005.3(WFS1): c.2648_2651delTCTT (p.Phe883Serfs) deletion Pathogenic/Likely pathogenic rs797045076 GRCh37 Chromosome 4, 6304170: 6304173
49 WFS1 NM_006005.3(WFS1): c.2648_2651delTCTT (p.Phe883Serfs) deletion Pathogenic/Likely pathogenic rs797045076 GRCh38 Chromosome 4, 6302443: 6302446
50 WFS1 NM_006005.3(WFS1): c.873C> G (p.Tyr291Ter) single nucleotide variant Pathogenic rs777580652 GRCh37 Chromosome 4, 6302395: 6302395

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:

38
# Name Kegg Source Accession
1 Protein processing in endoplasmic reticulum hsa04141

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

# Super pathways Score Top Affiliating Genes
1 11.79 AVP PCSK2 TH WFS1
2 11.55 ATF6 HSPA5 WFS1
3 11.41 ATF6 CISD1 CISD2 WFS1
4 10.72 ATF6 HSPA5

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 mitochondrion GO:0005739 9.8 CISD1 CISD2 HSPA5 SMURF1 TH TOMM40
2 dendrite GO:0030425 9.56 AVP PCSK2 TH WFS1
3 mitochondrial outer membrane GO:0005741 9.54 CISD1 CISD2 TOMM40
4 smooth endoplasmic reticulum GO:0005790 9.16 HSPA5 TH
5 integral component of endoplasmic reticulum membrane GO:0030176 9.13 ATF6 HSPA5 WFS1
6 secretory granule GO:0030141 8.8 AVP PCSK2 SCG5

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 response to cocaine GO:0042220 9.55 DRD5 HSPA5
2 response to nicotine GO:0035094 9.54 AVP TH
3 response to amphetamine GO:0001975 9.52 DRD5 TH
4 renal water homeostasis GO:0003091 9.51 AVP WFS1
5 peptide hormone processing GO:0016486 9.49 PCSK2 SCG5
6 multicellular organism aging GO:0010259 9.48 CISD2 TH
7 synaptic transmission, dopaminergic GO:0001963 9.46 DRD5 TH
8 ER overload response GO:0006983 9.43 HSPA5 WFS1
9 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.43 BAMBI HSPA5 SMURF1
10 positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress GO:1990440 9.4 ATF6 HSPA5
11 ATF6-mediated unfolded protein response GO:0036500 9.37 ATF6 HSPA5
12 cellular response to manganese ion GO:0071287 9.32 HSPA5 TH
13 visual perception GO:0007601 9.26 ATF6 EFEMP1 TH WFS1
14 mating behavior GO:0007617 9.16 DRD5 TH
15 endoplasmic reticulum unfolded protein response GO:0030968 8.8 ATF6 HSPA5 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 dopamine binding GO:0035240 8.62 DRD5 TH

Sources for Wolfram Syndrome

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
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