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WFS
MCID: WLF004
MIFTS: 60

Wolfram Syndrome (WFS)

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

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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:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Eye diseases Ear diseases Endocrine diseases Neuronal diseases Blood diseases
See all MalaCards categories (disease lists)
Orphanet: 60  
Rare eye diseases
Rare otorhinolaryngological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


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Summaries for Wolfram Syndrome

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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 Metformin 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...

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Related Diseases for Wolfram Syndrome

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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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 wolfram syndrome 2 33.9 CISD2 TOMM40 WFS1
2 wolfram syndrome 1 33.1 ATF6 AVP HSPA5 SYVN1 TH WFS1
3 wolfram-like syndrome, autosomal dominant 32.8 LOC107986257 WFS1
4 3-methylglutaconic aciduria, type iii 30.8 BAMBI CISD2 WFS1
5 diabetes insipidus 30.6 AVP CISD2 WFS1
6 wolfram syndrome, mitochondrial form 12.1
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 wfs1-related disorders 10.3 LOC107986257 WFS1
13 neuropathy 10.2
14 sensorineural hearing loss 10.2
15 optic nerve disease 10.2
16 waardenburg syndrome, type 1 10.1 CISD2 WFS1
17 adenoma 10.1
18 pituitary tumors 10.1
19 deafness, autosomal dominant 6 10.0 CISD2 WFS1
20 juvenile glaucoma 10.0
21 myopia 10.0
22 leber hereditary optic neuropathy 10.0
23 growth hormone deficiency 10.0
24 arteries, anomalies of 9.9
25 schizophrenia 9.9
26 major affective disorder 4 9.9
27 major affective disorder 8 9.9
28 major affective disorder 7 9.9
29 major affective disorder 9 9.9
30 microvascular complications of diabetes 5 9.9
31 bardet-biedl syndrome 2 9.9
32 bardet-biedl syndrome 10 9.9
33 bardet-biedl syndrome 11 9.9
34 bardet-biedl syndrome 12 9.9
35 bipolar disorder 9.9
36 cataract 9.9
37 coronary artery anomaly 9.9
38 brachydactyly 9.9
39 glucose intolerance 9.9
40 hypogonadism 9.9
41 bardet-biedl syndrome 9.9
42 thrombophilia 9.9
43 mood disorder 9.9
44 retinal degeneration 9.9
45 pulmonary embolism 9.9
46 organic mood syndrome 9.9

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



Diseases related to Wolfram Syndrome
Sources

Symptoms & Phenotypes for Wolfram Syndrome

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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 10.02 AVP BAMBI CISD2 EFEMP1 PCSK2 SCG5
2 growth/size/body region MP:0005378 9.96 ATF6 BAMBI CISD2 EFEMP1 HSPA5 RECK
3 endocrine/exocrine gland MP:0005379 9.87 ATF6 CISD2 EFEMP1 PCSK2 SCG5 TH
4 integument MP:0010771 9.81 BAMBI CISD2 EFEMP1 HSPA5 PCSK2 RECK
5 mortality/aging MP:0010768 9.73 ATF6 AVP CISD2 EFEMP1 HSPA5 PCSK2
6 normal MP:0002873 9.17 AVP BAMBI EFEMP1 HSPA5 SMURF1 SYVN1
Sources

Drugs & Therapeutics for Wolfram Syndrome

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

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 2, Phase 3 616-91-1 12035
2
Metformin Approved Phase 2, Phase 3 657-24-9 14219 4091
3
Iron Approved, Experimental Phase 2, Phase 3 7439-89-6, 15438-31-0 23925 27284
4
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
5 Antioxidants Phase 2, Phase 3
6 Hypoglycemic Agents Phase 2, Phase 3,Not Applicable
7 Iron Chelating Agents Phase 2, Phase 3
8 Expectorants Phase 2, Phase 3
9 N-monoacetylcystine Phase 2, Phase 3
10 Antidotes Phase 2, Phase 3
11 Antiviral Agents Phase 2, Phase 3
12 HIV Protease Inhibitors Phase 2, Phase 3
13 Free Radical Scavengers Phase 2, Phase 3
14 Hormones Phase 2, Phase 3,Not Applicable
15
protease inhibitors Phase 2, Phase 3
16 Anti-Infective Agents Phase 2, Phase 3
17 Chelating Agents Phase 2, Phase 3
18 Incretins Phase 2, Phase 3,Not Applicable
19 Hormone Antagonists Phase 2, Phase 3,Not Applicable
20 Sitagliptin Phosphate Phase 2, Phase 3
21 Dipeptidyl-Peptidase IV Inhibitors Phase 2, Phase 3
22 Respiratory System Agents Phase 2, Phase 3
23 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Not Applicable
24 Protective 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 2952 6914273
27 Tranquilizing Agents Phase 2
28 Anticonvulsants Phase 2
29 GABA Agents Phase 2
30 Neurotransmitter Agents Phase 2
31 Psychotropic Drugs Phase 2
32 Antimanic Agents Phase 2
33 Central Nervous System Depressants Phase 2
34 Peripheral Nervous System Agents Phase 1, Phase 2
35 Neuromuscular Agents Phase 1, Phase 2
36
Exenatide Approved, Investigational Not Applicable 141758-74-9 15991534
37 Glucagon-Like Peptide 1 Not Applicable
38 Anti-Obesity Agents Not Applicable
39 Insulin, Globin Zinc
40 insulin

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 Wolfram Syndrome International Registry and Clinical Study Recruiting NCT02841553

Search NIH Clinical Center for Wolfram Syndrome

Cochrane evidence based reviews: wolfram syndrome

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Genetic Tests for Wolfram Syndrome

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Genetic tests related to Wolfram Syndrome:

# Genetic test Affiliating Genes
1 Diabetes Mellitus and Insipidus with Optic Atrophy and Deafness 30
2 Wolfram Syndrome 30
Sources

Anatomical Context for Wolfram Syndrome

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MalaCards organs/tissues related to Wolfram Syndrome:

42
Eye, Brain, Pituitary, Pancreas, Kidney, Bone, Testes
Sources

Publications for Wolfram Syndrome

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Articles related to Wolfram Syndrome:

(show top 50) (show all 286)
# Title Authors Year
1
Optical coherence tomography-angiography in Wolfram syndrome: a mitochondrial etiology in disease pathophysiology. ( 30851792 )
2019
2
Juvenile Diabetes & Visual Impairment: Wolfram Syndrome. ( 30888424 )
2019
3
Wolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential Therapies. ( 29850290 )
2018
4
Genetic Testing for Wolfram Syndrome Mutations in a Sample of 71 Patients with Hereditary Optic Neuropathy and Negative Genetic Test Results for <i>OPA1/OPA3/LHON</i>. ( 29563951 )
2018
5
Understanding activity participation among individuals with Wolfram Syndrome. ( 29861534 )
2018
6
Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease. ( 29774890 )
2018
7
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
8
Longitudinal hearing loss in Wolfram syndrome. ( 29945639 )
2018
9
Preventive treatment with liraglutide protects against development of glucose intolerance in a rat model of Wolfram syndrome. ( 29976929 )
2018
10
Generation of Human-Induced Pluripotent Stem Cells from Wolfram Syndrome Type 2 Patients Bearing the c.103a88+a881G&amp;gt;A CISD2 Mutation for Disease Modeling. ( 29239282 )
2018
11
A novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome: a case report. ( 29549887 )
2018
12
Natural history and clinical characteristics of 50 patients with Wolfram syndrome. ( 29728875 )
2018
13
Clinical Characteristics of Wolfram Syndrome in Chinese Population and a Novel Frameshift Mutation in <i>WFS1</i>. ( 29483894 )
2018
14
Visual pathway function and structure in Wolfram syndrome: patient age, variation and progression. ( 29657975 )
2018
15
Lower Urinary Tract Dysfunction and Associated Pons Volume in Wolfram Syndrome. ( 29883657 )
2018
16
Wolfram syndrome: MAMs' connection? ( 29511163 )
2018
17
Evidence of retinal degeneration in Wolfram syndrome. ( 30507261 )
2018
18
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
19
Activation of GLP-1 receptor signalling alleviates cellular stresses and improves beta cell function in a mouse model of Wolfram syndrome. ( 30054673 )
2018
20
Ophthalmologic Manifestations of Wolfram Syndrome: Report of 14 Cases. ( 30056456 )
2018
21
Correction: Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease. ( 30171196 )
2018
22
Optical coherence tomography and magnetic resonance imaging visual pathway evaluation in Wolfram syndrome. ( 30246501 )
2018
23
A case of Wolfram syndrome with chronic renal failure. ( 30286575 )
2018
24
ER-mitochondria cross-talk is regulated by the Ca2+ sensor NCS1 and is impaired in Wolfram syndrome. ( 30352948 )
2018
25
Schizophrenia in Wolfram Syndrome (DIDMOAD Syndrome): A case report in support of the mitochondrial dysfunction hypothesis. ( 28986004 )
2017
26
Bladder dysfunction in Wolfram syndrome is highly prevalent and progresses to megacystis. ( 29277467 )
2017
27
Wfs1- deficient rats develop primary symptoms of Wolfram syndrome: insulin-dependent diabetes, optic nerve atrophy and medullary degeneration. ( 28860598 )
2017
28
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions. ( 28475771 )
2017
29
Retinal thickness as a marker of disease progression in longitudinal observation of patients with Wolfram syndrome. ( 28856555 )
2017
30
Previously unreported abnormalities in Wolfram Syndrome Type 2. ( 29073294 )
2017
31
The effects of disease-related symptoms on daily function in Wolfram Syndrome. ( 29130034 )
2017
32
Glutathione system in Wolfram syndrome 1a89deficient mice. ( 28901522 )
2017
33
A novel heterozygous mutation of the WFS1 gene leading to constitutive endoplasmic reticulum stress is the cause of Wolfram syndrome. ( 28271591 )
2017
34
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions. ( 28335035 )
2017
35
Metabolomics of the Wolfram Syndrome 1 Gene (Wfs1) Deficient Mice. ( 29257731 )
2017
36
Multiple fractures and impaired bone metabolism in Wolfram syndrome: a case report. ( 29263746 )
2017
37
SERUM METABOLIC FINGERPRINTING IDENTIFIED PUTATIVELY ANNOTATED SPHINGANINE ISOMER AS A BIOMARKER OF WOLFRAM SYNDROME. ( 28895401 )
2017
38
A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients. ( 29237418 )
2017
39
Exenatide Is an Effective Antihyperglycaemic Agent in a Mouse Model of Wolfram Syndrome 1. ( 27069934 )
2016
40
Wolfram Syndrome: Diagnosis, Management, and Treatment. ( 26742931 )
2016
41
Be aware of Wolfram syndrome when examining ataxic patients. ( 27314960 )
2016
42
A new mutation in a patient with Wolfram syndrome. ( 27452625 )
2016
43
Clinical and molecular genetic analysis in three children with Wolfram Syndrome: a novel WFS1 mutation (c.2534T&amp;gt;A). ( 27468121 )
2016
44
Identification of four novel mutations of the WFS1 gene in Iranian Wolfram syndrome pedigrees. ( 27412528 )
2016
45
Expression pattern of wolframin, the WFS1 (Wolfram syndrome-1 gene) product, in common marmoset (Callithrix jacchus) cochlea. ( 27341211 )
2016
46
Neuroimaging evidence of deficient axon myelination in Wolfram syndrome. ( 26888576 )
2016
47
A novel compound heterozygous mutation in an adolescent with insulin-dependent diabetes: The challenge of characterizing Wolfram syndrome. ( 27657458 )
2016
48
A novel nonsense mutation in the WFS1 gene causes the Wolfram syndrome. ( 26943604 )
2016
49
Wolfram Syndrome. Case report. ( 28132072 )
2016
50
Early-onset urological disorders due to Wolfram syndrome: A case of neonatal onset. ( 27212798 )
2016
Sources

Variations for Wolfram Syndrome

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ClinVar genetic disease variations for Wolfram Syndrome:

6 (show top 50) (show all 63)
# 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 HERC2 NM_004667.5(HERC2): c.7617+4A> C single nucleotide variant not provided GRCh37 Chromosome 15, 28447255: 28447255
4 HERC2 NM_004667.5(HERC2): c.7617+4A> C single nucleotide variant not provided GRCh38 Chromosome 15, 28202109: 28202109
5 WFS1 NM_006005.3: c.439delC deletion Pathogenic GRCh38 Chromosome 4, 6289110: 6289110
6 WFS1 NM_006005.3: c.439delC deletion Pathogenic GRCh37 Chromosome 4, 6290837: 6290837
7 WFS1 NM_006005.3(WFS1): c.568_570AAG[3] (p.Lys193del) deletion Likely pathogenic GRCh38 Chromosome 4, 6291304: 6291306
8 WFS1 NM_006005.3(WFS1): c.568_570AAG[3] (p.Lys193del) deletion Likely pathogenic GRCh37 Chromosome 4, 6293040: 6293042
9 WFS1 NM_006005.3(WFS1): c.2654C> T (p.Pro885Leu) single nucleotide variant Likely pathogenic rs372855769 GRCh37 Chromosome 4, 6304176: 6304176
10 WFS1 NM_006005.3(WFS1): c.2654C> T (p.Pro885Leu) single nucleotide variant Likely pathogenic rs372855769 GRCh38 Chromosome 4, 6302449: 6302449
11 WFS1 NM_001145853.1(WFS1): c.2191A> G (p.Met731Val) single nucleotide variant Uncertain significance rs144010362 GRCh37 Chromosome 4, 6303713: 6303713
12 WFS1 NM_001145853.1(WFS1): c.2191A> G (p.Met731Val) single nucleotide variant Uncertain significance rs144010362 GRCh38 Chromosome 4, 6301986: 6301986
13 WFS1 NM_001145853.1(WFS1): c.1079G> A (p.Cys360Tyr) single nucleotide variant Uncertain significance rs147157374 GRCh37 Chromosome 4, 6302601: 6302601
14 WFS1 NM_001145853.1(WFS1): c.1079G> A (p.Cys360Tyr) single nucleotide variant Uncertain significance rs147157374 GRCh38 Chromosome 4, 6300874: 6300874
15 WFS1 NM_006005.3(WFS1): c.2209G> A (p.Glu737Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs147834269 GRCh38 Chromosome 4, 6302004: 6302004
16 WFS1 NM_006005.3(WFS1): c.2209G> A (p.Glu737Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs147834269 GRCh37 Chromosome 4, 6303731: 6303731
17 WFS1 NM_006005.3(WFS1): c.482G> A (p.Arg161Gln) single nucleotide variant Benign/Likely benign rs115346085 GRCh38 Chromosome 4, 6291218: 6291218
18 WFS1 NM_006005.3(WFS1): c.482G> A (p.Arg161Gln) single nucleotide variant Benign/Likely benign rs115346085 GRCh37 Chromosome 4, 6292945: 6292945
19 WFS1 WFS1, 4-BP DEL, 1387CTCT deletion Pathogenic
20 WFS1 WFS1, 3-BP DEL, VAL415DEL deletion Pathogenic
21 WFS1 NM_006005.3(WFS1): c.2051C> T (p.Ala684Val) single nucleotide variant Pathogenic rs387906930 GRCh38 Chromosome 4, 6301846: 6301846
22 WFS1 NM_006005.3(WFS1): c.2051C> T (p.Ala684Val) single nucleotide variant Pathogenic rs387906930 GRCh37 Chromosome 4, 6303573: 6303573
23 WFS1 NM_006005.3(WFS1): c.2119G> T (p.Val707Phe) single nucleotide variant Pathogenic rs71524377 GRCh38 Chromosome 4, 6301914: 6301914
24 WFS1 NM_006005.3(WFS1): c.2119G> T (p.Val707Phe) single nucleotide variant Pathogenic rs71524377 GRCh37 Chromosome 4, 6303641: 6303641
25 WFS1 WFS1, 8-BP DEL, NT2106 deletion Pathogenic
26 WFS1 WFS1, 16-BP DEL, NT1362 deletion Pathogenic
27 WFS1 NM_006005.3(WFS1): c.409_424dup (p.Val142Glyfs) duplication Pathogenic rs1362648752 GRCh38 Chromosome 4, 6289080: 6289095
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.2455C> T (p.Gln819Ter) single nucleotide variant Pathogenic rs104893881 GRCh38 Chromosome 4, 6302250: 6302250
30 WFS1 NM_006005.3(WFS1): c.2455C> T (p.Gln819Ter) single nucleotide variant Pathogenic rs104893881 GRCh37 Chromosome 4, 6303977: 6303977
31 WFS1 NM_006005.3(WFS1): c.676C> T (p.Gln226Ter) single nucleotide variant Pathogenic rs104893880 GRCh38 Chromosome 4, 6291961: 6291961
32 WFS1 NM_006005.3(WFS1): c.676C> T (p.Gln226Ter) single nucleotide variant Pathogenic rs104893880 GRCh37 Chromosome 4, 6293688: 6293688
33 WFS1 WFS1, 460, G-A, +1 single nucleotide variant Pathogenic
34 WFS1 WFS1, 9-BP DEL, NT1380 deletion Pathogenic
35 WFS1 WFS1, 7-BP INS, NT1610 insertion Pathogenic
36 WFS1 NM_006005.3(WFS1): c.1511C> T (p.Pro504Leu) single nucleotide variant Pathogenic rs28937892 GRCh38 Chromosome 4, 6301306: 6301306
37 WFS1 NM_006005.3(WFS1): c.1511C> T (p.Pro504Leu) single nucleotide variant Pathogenic rs28937892 GRCh37 Chromosome 4, 6303033: 6303033
38 WFS1 NM_006005.3(WFS1): c.1944G> A (p.Trp648Ter) single nucleotide variant Pathogenic rs104893879 GRCh38 Chromosome 4, 6301739: 6301739
39 WFS1 NM_006005.3(WFS1): c.1944G> A (p.Trp648Ter) single nucleotide variant Pathogenic rs104893879 GRCh37 Chromosome 4, 6303466: 6303466
40 WFS1 NM_006005.3(WFS1): c.2084G> T (p.Gly695Val) single nucleotide variant Pathogenic rs28937891 GRCh38 Chromosome 4, 6301879: 6301879
41 WFS1 NM_006005.3(WFS1): c.2084G> T (p.Gly695Val) single nucleotide variant Pathogenic rs28937891 GRCh37 Chromosome 4, 6303606: 6303606
42 WFS1 NM_006005.3(WFS1): c.2171C> T (p.Pro724Leu) single nucleotide variant Uncertain significance rs28937890 GRCh38 Chromosome 4, 6301966: 6301966
43 WFS1 NM_006005.3(WFS1): c.2171C> T (p.Pro724Leu) single nucleotide variant Uncertain significance rs28937890 GRCh37 Chromosome 4, 6303693: 6303693
44 WFS1 WFS1, 15-BP DEL, NT1685 deletion Pathogenic
45 WFS1 WFS1, 2-BP DEL, 2812TC deletion Pathogenic
46 WFS1 NM_006005.3(WFS1): c.2369C> A (p.Ser790Ter) single nucleotide variant Pathogenic rs369107336 GRCh38 Chromosome 4, 6302164: 6302164
47 WFS1 NM_006005.3(WFS1): c.2369C> A (p.Ser790Ter) single nucleotide variant Pathogenic rs369107336 GRCh37 Chromosome 4, 6303891: 6303891
48 WFS1 NM_006005.3(WFS1): c.1698_1703del (p.Leu567_Phe568del) deletion Likely pathogenic rs797046113 GRCh38 Chromosome 4, 6301493: 6301498
49 WFS1 NM_006005.3(WFS1): c.1698_1703del (p.Leu567_Phe568del) deletion Likely pathogenic rs797046113 GRCh37 Chromosome 4, 6303220: 6303225
50 WFS1 NM_006005.3(WFS1): c.1240_1242del (p.Phe414del) deletion Likely pathogenic rs797046112 GRCh38 Chromosome 4, 6301035: 6301037
Sources

Expression for Wolfram Syndrome

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

Pathways for Wolfram Syndrome

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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
Neuroscience 4
12.09 AVP PCSK2 TH WFS1
2
Glucose / Energy Metabolism 4
11.95 ATF6 CISD1 CISD2 WFS1
3
Unfolded Protein Response (UPR) 67
Show member pathways
 11.62 ATF6 HSPA5 SYVN1 WFS1
4
Protein processing in endoplasmic reticulum 38
11.14 ATF6 HSPA5 SYVN1 WFS1
5
Photodynamic therapy-induced unfolded protein response 1
10.78 ATF6 HSPA5
Sources

GO Terms for Wolfram Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.8 ATF6 CISD2 HSPA5 SYVN1 WFS1
2 mitochondrion GO:0005739 9.8 CISD1 CISD2 HSPA5 SMURF1 TH TOMM40
3 dendrite GO:0030425 9.56 AVP PCSK2 TH WFS1
4 mitochondrial outer membrane GO:0005741 9.54 CISD1 CISD2 TOMM40
5 secretory granule GO:0030141 9.33 AVP PCSK2 SCG5
6 smooth endoplasmic reticulum GO:0005790 9.13 HSPA5 SYVN1 TH
7 integral component of endoplasmic reticulum membrane GO:0030176 8.92 ATF6 HSPA5 SYVN1 WFS1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 response to nicotine GO:0035094 9.54 AVP TH
2 renal water homeostasis GO:0003091 9.52 AVP WFS1
3 peptide hormone processing GO:0016486 9.51 PCSK2 SCG5
4 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.5 BAMBI HSPA5 SMURF1
5 multicellular organism aging GO:0010259 9.49 CISD2 TH
6 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.48 SYVN1 WFS1
7 ER overload response GO:0006983 9.46 HSPA5 WFS1
8 visual perception GO:0007601 9.46 ATF6 EFEMP1 TH WFS1
9 positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress GO:1990440 9.43 ATF6 HSPA5
10 ubiquitin-dependent ERAD pathway GO:0030433 9.43 HSPA5 SYVN1 WFS1
11 ATF6-mediated unfolded protein response GO:0036500 9.4 ATF6 HSPA5
12 cellular response to manganese ion GO:0071287 9.37 HSPA5 TH
13 IRE1-mediated unfolded protein response GO:0036498 9.13 HSPA5 SYVN1 WFS1
14 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

Sources for Wolfram Syndrome

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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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