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MCID: WLF004
MIFTS: 61

Wolfram Syndrome

Categories: Rare diseases, Eye diseases, Ear diseases, Endocrine diseases, Fetal diseases, Genetic 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 76 53 25 59 37 29 13 55 6 44 15 73
Diabetes Mellitus and Insipidus with Optic Atrophy and Deafness 12 29 6 40
Didmoad Syndrome 53 25 59
Didmoad 12 53 25
Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness 53 25
Wfs 12 53
Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome 59
Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness 25
Didmoadud 25

Characteristics:

Orphanet epidemiological data:

59
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
See all MalaCards categories (disease lists)
Orphanet: 59  
Rare eye diseases
Rare otorhinolaryngological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Wolfram Syndrome

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NIH Rare Diseases : 53 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 ataxia, seizures 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 Glucose / Energy Metabolism. 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 recurrent urinary tract infections and male hypogonadism

Genetics Home Reference : 25 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.

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

Sources

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 47)
# Related Disease Score Top Affiliating Genes
1 wolfram syndrome 2 33.6 CISD2 TOMM40 WFS1
2 wolfram syndrome 1 31.4 ATF6 AVP COMT HSPA5 SYVN1 TH
3 3-methylglutaconic aciduria, type iii 30.8 BAMBI CISD2 WFS1
4 diabetes insipidus 30.6 AVP CISD2 WFS1
5 bipolar disorder 28.5 COMT DRD5 TH WFS1
6 wolfram syndrome, mitochondrial form 11.9
7 waterhouse-friderichsen syndrome 11.6
8 wolfram-like syndrome, autosomal dominant 11.5
9 mohr-tranebjaerg syndrome 10.9
10 diabetes and deafness, maternally inherited 10.9
11 diabetes mellitus 10.3
12 diabetes insipidus, neurohypophyseal 10.3 AVP WFS1
13 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
14 neuropathy 10.1
15 optic nerve disease 10.1
16 sensorineural hearing loss 10.0
17 aging 9.9
18 retinitis 9.9
19 neuronitis 9.9
20 mitochondrial disorders 9.9
21 cataract 9.9
22 arteries, anomalies of 9.7
23 schizophrenia 9.7
24 major affective disorder 2 9.7
25 major affective disorder 4 9.7
26 major affective disorder 5 9.7
27 major affective disorder 6 9.7
28 major affective disorder 8 9.7
29 major affective disorder 7 9.7
30 major affective disorder 9 9.7
31 microvascular complications of diabetes 5 9.7
32 bardet-biedl syndrome 2 9.7
33 bardet-biedl syndrome 10 9.7
34 bardet-biedl syndrome 11 9.7
35 bardet-biedl syndrome 12 9.7
36 coronary artery anomaly 9.7
37 brachydactyly 9.7
38 glucose intolerance 9.7
39 hypogonadism 9.7
40 bardet-biedl syndrome 9.7
41 thrombophilia 9.7
42 mood disorder 9.7
43 pancreatitis 9.7
44 mitochondrial metabolism disease 9.7
45 pulmonary embolism 9.7
46 organic mood syndrome 9.7
47 dystonia 1, torsion, autosomal dominant 9.6 COMT TH

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:

59 32 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent urinary tract infections 59 32 frequent (33%) Frequent (79-30%) HP:0000010
2 male hypogonadism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000026
3 nephropathy 59 32 frequent (33%) Frequent (79-30%) HP:0000112
4 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
5 glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000501
6 ophthalmoplegia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000602
7 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
8 optic atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000648
9 dementia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000726
10 hallucinations 59 32 occasional (7.5%) Occasional (29-5%) HP:0000738
11 diabetes mellitus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000819
12 delayed puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000823
13 diabetes insipidus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000873
14 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
15 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
16 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
17 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
18 joint stiffness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001387
19 cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001638
20 anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001903
21 polydipsia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001959
22 constipation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002019
23 malabsorption 59 32 occasional (7.5%) Occasional (29-5%) HP:0002024
24 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
25 cerebral cortical atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002120
26 gastrointestinal hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0002239
27 sleep disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0002360
28 developmental regression 59 32 occasional (7.5%) Occasional (29-5%) HP:0002376
29 dysautonomia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002459
30 gastric ulcer 59 32 occasional (7.5%) Occasional (29-5%) HP:0002592
31 central apnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002871
32 myopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003198
33 feeding difficulties in infancy 59 32 frequent (33%) Frequent (79-30%) HP:0008872
34 peripheral neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0009830
35 dysuria 59 32 frequent (33%) Frequent (79-30%) HP:0100518
36 abnormality of the urinary system 59 Frequent (79-30%)
37 hypogonadism 59 Occasional (29-5%)
38 behavioral abnormality 59 Occasional (29-5%)
39 abnormality of the mesentery 59 Frequent (79-30%)
40 abnormality of mesentery morphology 32 frequent (33%) HP:0100016

UMLS symptoms related to Wolfram Syndrome:


ataxia, seizures, tremor

MGI Mouse Phenotypes related to Wolfram Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.2 DRD5 EFEMP1 PCSK2 SCG5 SMURF1 TH
2 cardiovascular system MP:0005385 10.09 RECK CISD2 COMT DRD5 EFEMP1 HSPA5
3 growth/size/body region MP:0005378 10.07 ATF6 BAMBI CISD2 EFEMP1 HSPA5 RECK
4 mortality/aging MP:0010768 10.07 ATF6 AVP CISD2 DRD5 EFEMP1 HSPA5
5 endocrine/exocrine gland MP:0005379 10.06 ATF6 CISD2 COMT DRD5 EFEMP1 PCSK2
6 integument MP:0010771 9.97 BAMBI CISD2 EFEMP1 HSPA5 PCSK2 RECK
7 nervous system MP:0003631 9.81 SMURF1 TH AVP CISD2 COMT DRD5
8 normal MP:0002873 9.56 AVP BAMBI DRD5 EFEMP1 HSPA5 SMURF1
9 renal/urinary system MP:0005367 9.17 AVP CISD2 COMT DRD5 EFEMP1 HSPA5
Sources

Drugs & Therapeutics for Wolfram Syndrome

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

(show all 32)
# 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 14219 4091
5 Hormone Antagonists Phase 2, Phase 3,Not Applicable
6 Hormones Phase 2, Phase 3,Not Applicable
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Not Applicable
8 Hypoglycemic Agents Phase 2, Phase 3,Not Applicable
9 Incretins Phase 2, Phase 3,Not Applicable
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 2952 6914273
25 Neuromuscular Agents Phase 1, Phase 2
26 Peripheral Nervous System Agents Phase 1, Phase 2
27
Exenatide Approved, Investigational Not Applicable 141758-74-9 15991534
28
Coal tar Approved 8007-45-2
29 Glucagon-Like Peptide 1 Not Applicable
30 glucagon
31 insulin
32 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 Not Applicable Exenatide
4 Predicting Response to Incretin Based Agents in Type 2 Diabetes Completed NCT01503112
5 Wolfram Syndrome International Registry and Clinical Study Recruiting NCT02841553
6 Tracking Neurodegeneration in Early Wolfram Syndrome Active, not recruiting NCT02455414

Search NIH Clinical Center for Wolfram Syndrome

Cochrane evidence based reviews: wolfram syndrome

Sources

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 29 WFS1
2 Wolfram Syndrome 29
Sources

Anatomical Context for Wolfram Syndrome

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MalaCards organs/tissues related to Wolfram Syndrome:

41
Eye, Brain, Pituitary, Pancreas, Bone, Pons, Hypothalamus
Sources

Publications for Wolfram Syndrome

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Articles related to Wolfram Syndrome:

(show top 50) (show all 273)
# Title Authors Year
1
Wolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential Therapies. ( 29850290 )
2018
2
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
3
Understanding activity participation among individuals with Wolfram Syndrome. ( 29861534 )
2018
4
Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease. ( 29774890 )
2018
5
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
6
Longitudinal hearing loss in Wolfram syndrome. ( 29945639 )
2018
7
Preventive treatment with liraglutide protects against development of glucose intolerance in a rat model of Wolfram syndrome. ( 29976929 )
2018
8
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
9
A novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome: a case report. ( 29549887 )
2018
10
Natural history and clinical characteristics of 50 patients with Wolfram syndrome. ( 29728875 )
2018
11
Clinical Characteristics of Wolfram Syndrome in Chinese Population and a Novel Frameshift Mutation in <i>WFS1</i>. ( 29483894 )
2018
12
Visual pathway function and structure in Wolfram syndrome: patient age, variation and progression. ( 29657975 )
2018
13
Lower Urinary Tract Dysfunction and Associated Pons Volume in Wolfram Syndrome. ( 29883657 )
2018
14
Wolfram syndrome: MAMs' connection? ( 29511163 )
2018
15
Schizophrenia in Wolfram Syndrome (DIDMOAD Syndrome): A case report in support of the mitochondrial dysfunction hypothesis. ( 28986004 )
2017
16
Bladder dysfunction in Wolfram syndrome is highly prevalent and progresses to megacystis. ( 29277467 )
2017
17
Wfs1- deficient rats develop primary symptoms of Wolfram syndrome: insulin-dependent diabetes, optic nerve atrophy and medullary degeneration. ( 28860598 )
2017
18
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions. ( 28475771 )
2017
19
Retinal thickness as a marker of disease progression in longitudinal observation of patients with Wolfram syndrome. ( 28856555 )
2017
20
Previously unreported abnormalities in Wolfram Syndrome Type 2. ( 29073294 )
2017
21
The effects of disease-related symptoms on daily function in Wolfram Syndrome. ( 29130034 )
2017
22
Glutathione system in Wolfram syndrome 1a89deficient mice. ( 28901522 )
2017
23
A novel heterozygous mutation of the WFS1 gene leading to constitutive endoplasmic reticulum stress is the cause of Wolfram syndrome. ( 28271591 )
2017
24
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions. ( 28335035 )
2017
25
Metabolomics of the Wolfram Syndrome 1 Gene (Wfs1) Deficient Mice. ( 29257731 )
2017
26
Multiple fractures and impaired bone metabolism in Wolfram syndrome: a case report. ( 29263746 )
2017
27
SERUM METABOLIC FINGERPRINTING IDENTIFIED PUTATIVELY ANNOTATED SPHINGANINE ISOMER AS A BIOMARKER OF WOLFRAM SYNDROME. ( 28895401 )
2017
28
A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients. ( 29237418 )
2017
29
Exenatide Is an Effective Antihyperglycaemic Agent in a Mouse Model of Wolfram Syndrome 1. ( 27069934 )
2016
30
Wolfram Syndrome: Diagnosis, Management, and Treatment. ( 26742931 )
2016
31
Be aware of Wolfram syndrome when examining ataxic patients. ( 27314960 )
2016
32
A new mutation in a patient with Wolfram syndrome. ( 27452625 )
2016
33
Clinical and molecular genetic analysis in three children with Wolfram Syndrome: a novel WFS1 mutation (c.2534T&amp;gt;A). ( 27468121 )
2016
34
Identification of four novel mutations of the WFS1 gene in Iranian Wolfram syndrome pedigrees. ( 27412528 )
2016
35
Neuroimaging evidence of deficient axon myelination in Wolfram syndrome. ( 26888576 )
2016
36
A novel compound heterozygous mutation in an adolescent with insulin-dependent diabetes: The challenge of characterizing Wolfram syndrome. ( 27657458 )
2016
37
A novel nonsense mutation in the WFS1 gene causes the Wolfram syndrome. ( 26943604 )
2016
38
Wolfram Syndrome. Case report. ( 28132072 )
2016
39
Early-onset urological disorders due to Wolfram syndrome: A case of neonatal onset. ( 27212798 )
2016
40
Association of Wolfram syndrome with Fallot tetralogy in a girl. ( 27164349 )
2016
41
Identification of a novel WFS1 homozygous nonsense mutation in Jordanian children with Wolfram syndrome. ( 27617222 )
2016
42
Fatal Pulmonary Embolism Due to Inherited Thrombophilia Factors in a Child With Wolfram Syndrome. ( 27379531 )
2016
43
c.376G&amp;gt;A mutation in WFS1 gene causes Wolfram syndrome without deafness. ( 26773575 )
2016
44
Role of Mitochondrial Dynamics in Neuronal Development: Mechanism for Wolfram Syndrome. ( 27434582 )
2016
45
GLP-1-RA corrects mitochondrial labile iron accumulation and improves I^-cell function in type 2 Wolfram syndrome. ( 27459537 )
2016
46
Bipolar Disorder Type 1 in a 17-Year-Old Girl with Wolfram Syndrome. ( 27045389 )
2016
47
Clinical utility gene card for: Wolfram syndrome. ( 27222289 )
2016
48
Identification of unsuspected Wolfram syndrome cases through clinical assessment and WFS1 gene screening in type 1 diabetes mellitus patients. ( 25895475 )
2015
49
Retinal thinning as a marker of disease progression in patients with Wolfram syndrome. ( 25715420 )
2015
50
Early-onset central diabetes insipidus is associated with de novo arginine vasopressin-neurophysin II or Wolfram syndrome 1 gene mutations. ( 25740874 )
2015
Sources

Variations for Wolfram Syndrome

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ClinVar genetic disease variations for Wolfram Syndrome:

6
(show top 50) (show all 56)
# 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 Pathogenic rs28937890 GRCh37 Chromosome 4, 6303693: 6303693
4 WFS1 NM_006005.3(WFS1): c.2171C> T (p.Pro724Leu) single nucleotide variant Pathogenic 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_424dup16 (p.Val142Glyfs) duplication Pathogenic rs587776598 GRCh37 Chromosome 4, 6290807: 6290822
19 WFS1 NM_006005.3(WFS1): c.409_424dup16 (p.Val142Glyfs) duplication Pathogenic rs587776598 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.1957C> T (p.Arg653Cys) single nucleotide variant Uncertain significance rs201064551 GRCh37 Chromosome 4, 6303479: 6303479
29 WFS1 NM_006005.3(WFS1): c.1957C> T (p.Arg653Cys) single nucleotide variant Uncertain significance rs201064551 GRCh38 Chromosome 4, 6301752: 6301752
30 WFS1 NM_006005.3(WFS1): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic/Likely pathogenic rs71530923 GRCh37 Chromosome 4, 6279306: 6279306
31 WFS1 NM_006005.3(WFS1): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic/Likely pathogenic rs71530923 GRCh38 Chromosome 4, 6277579: 6277579
32 WFS1 NM_006005.3(WFS1): c.683G> A (p.Arg228His) single nucleotide variant Uncertain significance rs150771247 GRCh37 Chromosome 4, 6293695: 6293695
33 WFS1 NM_006005.3(WFS1): c.683G> A (p.Arg228His) single nucleotide variant Uncertain significance rs150771247 GRCh38 Chromosome 4, 6291968: 6291968
34 WFS1 NM_006005.3(WFS1): c.1672C> T (p.Arg558Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199946797 GRCh37 Chromosome 4, 6303194: 6303194
35 WFS1 NM_006005.3(WFS1): c.1672C> T (p.Arg558Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199946797 GRCh38 Chromosome 4, 6301467: 6301467
36 WFS1 NM_006005.3(WFS1): c.2263T> C (p.Cys755Arg) single nucleotide variant Likely pathogenic rs797045075 GRCh37 Chromosome 4, 6303785: 6303785
37 WFS1 NM_006005.3(WFS1): c.2263T> C (p.Cys755Arg) single nucleotide variant Likely pathogenic rs797045075 GRCh38 Chromosome 4, 6302058: 6302058
38 WFS1 NM_006005.3(WFS1): c.2648_2651delTCTT (p.Phe883Serfs) deletion Pathogenic/Likely pathogenic rs797045076 GRCh37 Chromosome 4, 6304170: 6304173
39 WFS1 NM_006005.3(WFS1): c.2648_2651delTCTT (p.Phe883Serfs) deletion Pathogenic/Likely pathogenic rs797045076 GRCh38 Chromosome 4, 6302443: 6302446
40 WFS1 NM_006005.3(WFS1): c.873C> G (p.Tyr291Ter) single nucleotide variant Pathogenic rs777580652 GRCh37 Chromosome 4, 6302395: 6302395
41 WFS1 NM_006005.3(WFS1): c.873C> G (p.Tyr291Ter) single nucleotide variant Pathogenic rs777580652 GRCh38 Chromosome 4, 6300668: 6300668
42 WFS1 NM_006005.3(WFS1): c.1240_1242delTTC (p.Phe414del) deletion Likely pathogenic rs797046112 GRCh37 Chromosome 4, 6302762: 6302764
43 WFS1 NM_006005.3(WFS1): c.1240_1242delTTC (p.Phe414del) deletion Likely pathogenic rs797046112 GRCh38 Chromosome 4, 6301035: 6301037
44 WFS1 NM_006005.3(WFS1): c.1698_1703delCCTCTT (p.Leu567_Phe568del) deletion Likely pathogenic rs797046113 GRCh37 Chromosome 4, 6303220: 6303225
45 WFS1 NM_006005.3(WFS1): c.1698_1703delCCTCTT (p.Leu567_Phe568del) deletion Likely pathogenic rs797046113 GRCh38 Chromosome 4, 6301493: 6301498
46 WFS1 NM_006005.3(WFS1): c.2369C> A (p.Ser790Ter) single nucleotide variant Pathogenic rs369107336 GRCh37 Chromosome 4, 6303891: 6303891
47 WFS1 NM_006005.3(WFS1): c.2369C> A (p.Ser790Ter) single nucleotide variant Pathogenic rs369107336 GRCh38 Chromosome 4, 6302164: 6302164
48 WFS1 NM_006005.3(WFS1): c.1060_1062delTTC (p.Phe354del) deletion Pathogenic rs876657735 GRCh38 Chromosome 4, 6300855: 6300857
49 WFS1 NM_006005.3(WFS1): c.1060_1062delTTC (p.Phe354del) deletion Pathogenic rs876657735 GRCh37 Chromosome 4, 6302582: 6302584
50 WFS1 NM_001145853.1(WFS1): c.1079G> A (p.Cys360Tyr) single nucleotide variant Uncertain significance rs147157374 GRCh38 Chromosome 4, 6300874: 6300874
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:

37
# 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
Glucose / Energy Metabolism 4
12.11 ATF6 CISD1 CISD2 WFS1
2
Unfolded Protein Response (UPR) 66
Show member pathways
 11.82 ATF6 HSPA5 SYVN1 WFS1
3
Neuroscience 4
11.56 AVP COMT PCSK2 TH WFS1
4
Protein processing in endoplasmic reticulum 37
11.47 ATF6 HSPA5 SYVN1 WFS1
5
Photodynamic therapy-induced unfolded protein response 1
10.87 ATF6 HSPA5
6
Biogenic Amine Synthesis 1
Show member pathways
 10.71 COMT TH
7
Dopamine metabolism 1
10.4 COMT TH
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 mitochondrion GO:0005739 9.87 CISD1 CISD2 COMT HSPA5 SMURF1 TH
2 mitochondrial outer membrane GO:0005741 9.58 CISD1 CISD2 TOMM40
3 dendrite GO:0030425 9.55 AVP COMT PCSK2 TH WFS1
4 secretory granule GO:0030141 9.43 AVP PCSK2 SCG5
5 smooth endoplasmic reticulum GO:0005790 9.13 HSPA5 SYVN1 TH
6 integral component of endoplasmic reticulum membrane GO:0030176 8.92 ATF6 HSPA5 SYVN1 WFS1
7 membrane GO:0016020 10.18 ATF6 BAMBI CISD1 CISD2 COMT DRD5

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 response to organic cyclic compound GO:0014070 9.72 AVP COMT TH
2 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.61 BAMBI HSPA5 SMURF1
3 renal water homeostasis GO:0003091 9.58 AVP WFS1
4 response to amphetamine GO:0001975 9.57 DRD5 TH
5 peptide hormone processing GO:0016486 9.56 PCSK2 SCG5
6 visual perception GO:0007601 9.56 ATF6 EFEMP1 TH WFS1
7 synaptic transmission, dopaminergic GO:0001963 9.54 DRD5 TH
8 learning GO:0007612 9.54 COMT DRD5 TH
9 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.52 SYVN1 WFS1
10 multicellular organism aging GO:0010259 9.51 CISD2 TH
11 ubiquitin-dependent ERAD pathway GO:0030433 9.5 HSPA5 SYVN1 WFS1
12 positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress GO:1990440 9.49 ATF6 HSPA5
13 ER overload response GO:0006983 9.48 HSPA5 WFS1
14 ATF6-mediated unfolded protein response GO:0036500 9.46 ATF6 HSPA5
15 mating behavior GO:0007617 9.4 DRD5 TH
16 IRE1-mediated unfolded protein response GO:0036498 9.33 HSPA5 SYVN1 WFS1
17 cellular response to manganese ion GO:0071287 8.96 HSPA5 TH
18 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 9.16 CISD1 CISD2
2 unfolded protein binding GO:0051082 9.13 HSPA5 SCG5 SYVN1
3 dopamine binding GO:0035240 8.62 DRD5 TH
Sources

Sources for Wolfram Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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