WFS
MCID: WLF004
MIFTS: 61

Wolfram Syndrome (WFS)

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 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:



Summaries for Wolfram Syndrome

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 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 Iron and Metformin have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and pituitary, and related phenotypes are nystagmus and diabetes mellitus

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 : 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.

Wikipedia : 76 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 42)
# Related Disease Score Top Affiliating Genes
1 wolfram syndrome 2 33.9 WFS1 TOMM40 CISD2
2 wolfram syndrome 1 33.3 WFS1 TH SYVN1 HSPA5 AVP ATF6
3 wolfram-like syndrome, autosomal dominant 32.6 WFS1 LOC107986257
4 3-methylglutaconic aciduria, type iii 30.6 WFS1 CISD2 BAMBI
5 diabetes insipidus 30.5 WFS1 CISD2 AVP
6 wolfram syndrome, mitochondrial form 12.0
7 waterhouse-friderichsen syndrome 11.7
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 wfs1-related disorders 10.2 WFS1 LOC107986257
16 pituitary tumors 10.1
17 juvenile glaucoma 10.0
18 myopia 10.0
19 leber hereditary optic neuropathy 10.0
20 arteries, anomalies of 9.9
21 major affective disorder 1 9.9
22 schizophrenia 9.9
23 major affective disorder 8 9.9
24 major affective disorder 7 9.9
25 major affective disorder 9 9.9
26 microvascular complications of diabetes 5 9.9
27 bardet-biedl syndrome 2 9.9
28 bardet-biedl syndrome 10 9.9
29 bardet-biedl syndrome 11 9.9
30 bardet-biedl syndrome 12 9.9
31 bipolar disorder 9.9
32 cataract 9.9
33 coronary artery anomaly 9.9
34 brachydactyly 9.9
35 glucose intolerance 9.9
36 hypogonadism 9.9
37 bardet-biedl syndrome 9.9
38 thrombophilia 9.9
39 mood disorder 9.9
40 retinal degeneration 9.9
41 pulmonary embolism 9.9
42 organic mood syndrome 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:

59 32 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
2 diabetes mellitus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000819
3 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
4 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
5 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
6 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
7 constipation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002019
8 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
9 sleep disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0002360
10 developmental regression 59 32 occasional (7.5%) Occasional (29-5%) HP:0002376
11 hallucinations 59 32 occasional (7.5%) Occasional (29-5%) HP:0000738
12 joint stiffness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001387
13 malabsorption 59 32 occasional (7.5%) Occasional (29-5%) HP:0002024
14 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
15 optic atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000648
16 feeding difficulties in infancy 59 32 frequent (33%) Frequent (79-30%) HP:0008872
17 nephropathy 59 32 frequent (33%) Frequent (79-30%) HP:0000112
18 delayed puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000823
19 polydipsia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001959
20 myopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003198
21 anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001903
22 peripheral neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0009830
23 cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001638
24 cerebral cortical atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002120
25 male hypogonadism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000026
26 diabetes insipidus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000873
27 glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000501
28 dementia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000726
29 gastrointestinal hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0002239
30 recurrent urinary tract infections 59 32 frequent (33%) Frequent (79-30%) HP:0000010
31 ophthalmoplegia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000602
32 dysuria 59 32 frequent (33%) Frequent (79-30%) HP:0100518
33 gastric ulcer 59 32 occasional (7.5%) Occasional (29-5%) HP:0002592
34 central apnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002871
35 dysautonomia 59 Occasional (29-5%)
36 behavioral abnormality 59 Occasional (29-5%)
37 hypogonadism 59 Occasional (29-5%)
38 abnormality of the urinary system 59 Frequent (79-30%)
39 abnormality of the mesentery 59 Frequent (79-30%)
40 abnormal autonomic nervous system physiology 32 occasional (7.5%) HP:0012332
41 abnormality of mesentery morphology 32 frequent (33%) HP:0100016

UMLS symptoms related to Wolfram Syndrome:


seizures, ataxia, tremor

MGI Mouse Phenotypes related to Wolfram Syndrome:

46
# 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 9.97 ATF6 AVP CISD2 DRD5 EFEMP1 HSPA5
6 integument MP:0010771 9.91 BAMBI CISD2 EFEMP1 HSPA5 PCSK2 RECK
7 normal MP:0002873 9.56 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 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 2, Phase 3 7439-89-6 23925
2
Metformin Approved Phase 2, Phase 3 657-24-9 14219 4091
3
Acetylcysteine Approved, Investigational Phase 2, Phase 3 616-91-1 12035
4
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
5 Hormone Antagonists Phase 2, Phase 3,Not Applicable
6
protease inhibitors Phase 2, Phase 3
7 Hormones Phase 2, Phase 3,Not Applicable
8 HIV Protease Inhibitors Phase 2, Phase 3
9 Incretins Phase 2, Phase 3,Not Applicable
10 Protective Agents Phase 2, Phase 3
11 Antioxidants Phase 2, Phase 3
12 Anti-Infective Agents Phase 2, Phase 3
13 Expectorants Phase 2, Phase 3
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Not Applicable
15 N-monoacetylcystine Phase 2, Phase 3
16 Sitagliptin Phosphate Phase 2, Phase 3
17 Respiratory System Agents Phase 2, Phase 3
18 Free Radical Scavengers Phase 2, Phase 3
19 Hypoglycemic Agents Phase 2, Phase 3,Not Applicable
20 Dipeptidyl-Peptidase IV Inhibitors Phase 2, Phase 3
21 Iron Chelating Agents Phase 2, Phase 3
22 Antiviral Agents Phase 2, Phase 3
23 Antidotes Phase 2, Phase 3
24 Chelating 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 Psychotropic Drugs Phase 2
28 Tranquilizing Agents Phase 2
29 GABA Agents Phase 2
30 Antimanic Agents Phase 2
31 Neurotransmitter Agents Phase 2
32 Central Nervous System Depressants Phase 2
33 Anticonvulsants 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 Insulin, Globin Zinc
39 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

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 29 WFS1
2 Wolfram Syndrome 29

Anatomical Context for Wolfram Syndrome

MalaCards organs/tissues related to Wolfram Syndrome:

41
Eye, Brain, Pituitary, Pancreas, Kidney, Bone, Testes

Publications for Wolfram Syndrome

Articles related to Wolfram Syndrome:

(show top 50) (show all 284)
# 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
Evidence of retinal degeneration in Wolfram syndrome. ( 30507261 )
2018
16
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
17
Activation of GLP-1 receptor signalling alleviates cellular stresses and improves beta cell function in a mouse model of Wolfram syndrome. ( 30054673 )
2018
18
Ophthalmologic Manifestations of Wolfram Syndrome: Report of 14 Cases. ( 30056456 )
2018
19
Correction: Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease. ( 30171196 )
2018
20
Optical coherence tomography and magnetic resonance imaging visual pathway evaluation in Wolfram syndrome. ( 30246501 )
2018
21
A case of Wolfram syndrome with chronic renal failure. ( 30286575 )
2018
22
ER-mitochondria cross-talk is regulated by the Ca2+ sensor NCS1 and is impaired in Wolfram syndrome. ( 30352948 )
2018
23
Schizophrenia in Wolfram Syndrome (DIDMOAD Syndrome): A case report in support of the mitochondrial dysfunction hypothesis. ( 28986004 )
2017
24
Bladder dysfunction in Wolfram syndrome is highly prevalent and progresses to megacystis. ( 29277467 )
2017
25
Wfs1- deficient rats develop primary symptoms of Wolfram syndrome: insulin-dependent diabetes, optic nerve atrophy and medullary degeneration. ( 28860598 )
2017
26
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions. ( 28475771 )
2017
27
Retinal thickness as a marker of disease progression in longitudinal observation of patients with Wolfram syndrome. ( 28856555 )
2017
28
Previously unreported abnormalities in Wolfram Syndrome Type 2. ( 29073294 )
2017
29
The effects of disease-related symptoms on daily function in Wolfram Syndrome. ( 29130034 )
2017
30
Glutathione system in Wolfram syndrome 1a89deficient mice. ( 28901522 )
2017
31
A novel heterozygous mutation of the WFS1 gene leading to constitutive endoplasmic reticulum stress is the cause of Wolfram syndrome. ( 28271591 )
2017
32
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions. ( 28335035 )
2017
33
Metabolomics of the Wolfram Syndrome 1 Gene (Wfs1) Deficient Mice. ( 29257731 )
2017
34
Multiple fractures and impaired bone metabolism in Wolfram syndrome: a case report. ( 29263746 )
2017
35
SERUM METABOLIC FINGERPRINTING IDENTIFIED PUTATIVELY ANNOTATED SPHINGANINE ISOMER AS A BIOMARKER OF WOLFRAM SYNDROME. ( 28895401 )
2017
36
A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients. ( 29237418 )
2017
37
Exenatide Is an Effective Antihyperglycaemic Agent in a Mouse Model of Wolfram Syndrome 1. ( 27069934 )
2016
38
Wolfram Syndrome: Diagnosis, Management, and Treatment. ( 26742931 )
2016
39
Be aware of Wolfram syndrome when examining ataxic patients. ( 27314960 )
2016
40
A new mutation in a patient with Wolfram syndrome. ( 27452625 )
2016
41
Clinical and molecular genetic analysis in three children with Wolfram Syndrome: a novel WFS1 mutation (c.2534T&amp;gt;A). ( 27468121 )
2016
42
Identification of four novel mutations of the WFS1 gene in Iranian Wolfram syndrome pedigrees. ( 27412528 )
2016
43
Expression pattern of wolframin, the WFS1 (Wolfram syndrome-1 gene) product, in common marmoset (Callithrix jacchus) cochlea. ( 27341211 )
2016
44
Neuroimaging evidence of deficient axon myelination in Wolfram syndrome. ( 26888576 )
2016
45
A novel compound heterozygous mutation in an adolescent with insulin-dependent diabetes: The challenge of characterizing Wolfram syndrome. ( 27657458 )
2016
46
A novel nonsense mutation in the WFS1 gene causes the Wolfram syndrome. ( 26943604 )
2016
47
Wolfram Syndrome. Case report. ( 28132072 )
2016
48
Early-onset urological disorders due to Wolfram syndrome: A case of neonatal onset. ( 27212798 )
2016
49
Association of Wolfram syndrome with Fallot tetralogy in a girl. ( 27164349 )
2016
50
Identification of a novel WFS1 homozygous nonsense mutation in Jordanian children with Wolfram syndrome. ( 27617222 )
2016

Variations for Wolfram Syndrome

ClinVar genetic disease variations for Wolfram Syndrome:

6 (show top 50) (show all 61)
# Gene Variation Type Significance SNP ID Assembly Location
1 WFS1 NM_006005.3(WFS1): c.1060_1062delTTC (p.Phe354del) deletion Pathogenic rs876657735 GRCh38 Chromosome 4, 6300855: 6300857
2 WFS1 NM_006005.3(WFS1): c.1060_1062delTTC (p.Phe354del) deletion Pathogenic rs876657735 GRCh37 Chromosome 4, 6302582: 6302584
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 WFS1, 4-BP DEL, 1387CTCT deletion Pathogenic
6 WFS1 WFS1, 3-BP DEL, VAL415DEL deletion Pathogenic
7 WFS1 NM_006005.3(WFS1): c.2051C> T (p.Ala684Val) single nucleotide variant Pathogenic rs387906930 GRCh38 Chromosome 4, 6301846: 6301846
8 WFS1 NM_006005.3(WFS1): c.2051C> T (p.Ala684Val) single nucleotide variant Pathogenic rs387906930 GRCh37 Chromosome 4, 6303573: 6303573
9 WFS1 WFS1, 8-BP DEL, NT2106 deletion Pathogenic
10 WFS1 NM_006005.3(WFS1): c.2119G> T (p.Val707Phe) single nucleotide variant Pathogenic rs71524377 GRCh38 Chromosome 4, 6301914: 6301914
11 WFS1 NM_006005.3(WFS1): c.2119G> T (p.Val707Phe) single nucleotide variant Pathogenic rs71524377 GRCh37 Chromosome 4, 6303641: 6303641
12 WFS1 WFS1, 16-BP DEL, NT1362 deletion Pathogenic
13 WFS1 NM_006005.3(WFS1): c.409_424dup16 (p.Val142Glyfs) duplication Pathogenic rs587776598 GRCh38 Chromosome 4, 6289080: 6289095
14 WFS1 NM_006005.3(WFS1): c.409_424dup16 (p.Val142Glyfs) duplication Pathogenic rs587776598 GRCh37 Chromosome 4, 6290807: 6290822
15 WFS1 NM_006005.3(WFS1): c.2455C> T (p.Gln819Ter) single nucleotide variant Pathogenic rs104893881 GRCh38 Chromosome 4, 6302250: 6302250
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.676C> T (p.Gln226Ter) single nucleotide variant Pathogenic rs104893880 GRCh38 Chromosome 4, 6291961: 6291961
18 WFS1 NM_006005.3(WFS1): c.676C> T (p.Gln226Ter) single nucleotide variant Pathogenic rs104893880 GRCh37 Chromosome 4, 6293688: 6293688
19 WFS1 WFS1, 460, G-A, +1 single nucleotide variant Pathogenic
20 WFS1 WFS1, 9-BP DEL, NT1380 deletion Pathogenic
21 WFS1 WFS1, 7-BP INS, NT1610 insertion Pathogenic
22 WFS1 NM_006005.3(WFS1): c.1511C> T (p.Pro504Leu) single nucleotide variant Pathogenic rs28937892 GRCh38 Chromosome 4, 6301306: 6301306
23 WFS1 NM_006005.3(WFS1): c.1511C> T (p.Pro504Leu) single nucleotide variant Pathogenic rs28937892 GRCh37 Chromosome 4, 6303033: 6303033
24 WFS1 NM_006005.3(WFS1): c.1944G> A (p.Trp648Ter) single nucleotide variant Pathogenic rs104893879 GRCh38 Chromosome 4, 6301739: 6301739
25 WFS1 NM_006005.3(WFS1): c.1944G> A (p.Trp648Ter) single nucleotide variant Pathogenic rs104893879 GRCh37 Chromosome 4, 6303466: 6303466
26 WFS1 NM_006005.3(WFS1): c.2084G> T (p.Gly695Val) single nucleotide variant Pathogenic rs28937891 GRCh38 Chromosome 4, 6301879: 6301879
27 WFS1 NM_006005.3(WFS1): c.2084G> T (p.Gly695Val) single nucleotide variant Pathogenic rs28937891 GRCh37 Chromosome 4, 6303606: 6303606
28 WFS1 NM_006005.3(WFS1): c.2171C> T (p.Pro724Leu) single nucleotide variant Pathogenic rs28937890 GRCh38 Chromosome 4, 6301966: 6301966
29 WFS1 NM_006005.3(WFS1): c.2171C> T (p.Pro724Leu) single nucleotide variant Pathogenic rs28937890 GRCh37 Chromosome 4, 6303693: 6303693
30 WFS1 WFS1, 15-BP DEL, NT1685 deletion Pathogenic
31 WFS1 WFS1, 2-BP DEL, 2812TC deletion Pathogenic
32 WFS1 NM_006005.3(WFS1): c.2654C> T (p.Pro885Leu) single nucleotide variant Likely pathogenic rs372855769 GRCh37 Chromosome 4, 6304176: 6304176
33 WFS1 NM_006005.3(WFS1): c.2654C> T (p.Pro885Leu) single nucleotide variant Likely pathogenic rs372855769 GRCh38 Chromosome 4, 6302449: 6302449
34 WFS1 NM_001145853.1(WFS1): c.2191A> G (p.Met731Val) single nucleotide variant Uncertain significance rs144010362 GRCh37 Chromosome 4, 6303713: 6303713
35 WFS1 NM_001145853.1(WFS1): c.2191A> G (p.Met731Val) single nucleotide variant Uncertain significance rs144010362 GRCh38 Chromosome 4, 6301986: 6301986
36 WFS1 NM_001145853.1(WFS1): c.1079G> A (p.Cys360Tyr) single nucleotide variant Uncertain significance rs147157374 GRCh37 Chromosome 4, 6302601: 6302601
37 WFS1 NM_001145853.1(WFS1): c.1079G> A (p.Cys360Tyr) single nucleotide variant Uncertain significance rs147157374 GRCh38 Chromosome 4, 6300874: 6300874
38 WFS1 NM_006005.3(WFS1): c.2369C> A (p.Ser790Ter) single nucleotide variant Pathogenic rs369107336 GRCh38 Chromosome 4, 6302164: 6302164
39 WFS1 NM_006005.3(WFS1): c.2369C> A (p.Ser790Ter) single nucleotide variant Pathogenic rs369107336 GRCh37 Chromosome 4, 6303891: 6303891
40 WFS1 NM_006005.3(WFS1): c.1698_1703delCCTCTT (p.Leu567_Phe568del) deletion Likely pathogenic rs797046113 GRCh38 Chromosome 4, 6301493: 6301498
41 WFS1 NM_006005.3(WFS1): c.1698_1703delCCTCTT (p.Leu567_Phe568del) deletion Likely pathogenic rs797046113 GRCh37 Chromosome 4, 6303220: 6303225
42 WFS1 NM_006005.3(WFS1): c.1240_1242delTTC (p.Phe414del) deletion Likely pathogenic rs797046112 GRCh38 Chromosome 4, 6301035: 6301037
43 WFS1 NM_006005.3(WFS1): c.1240_1242delTTC (p.Phe414del) deletion Likely pathogenic rs797046112 GRCh37 Chromosome 4, 6302762: 6302764
44 WFS1 NM_006005.3(WFS1): c.873C> G (p.Tyr291Ter) single nucleotide variant Pathogenic rs777580652 GRCh38 Chromosome 4, 6300668: 6300668
45 WFS1 NM_006005.3(WFS1): c.873C> G (p.Tyr291Ter) single nucleotide variant Pathogenic rs777580652 GRCh37 Chromosome 4, 6302395: 6302395
46 WFS1 NM_006005.3(WFS1): c.2648_2651delTCTT (p.Phe883Serfs) deletion Pathogenic/Likely pathogenic rs797045076 GRCh38 Chromosome 4, 6302443: 6302446
47 WFS1 NM_006005.3(WFS1): c.2648_2651delTCTT (p.Phe883Serfs) deletion Pathogenic/Likely pathogenic rs797045076 GRCh37 Chromosome 4, 6304170: 6304173
48 WFS1 NM_006005.3(WFS1): c.2263T> C (p.Cys755Arg) single nucleotide variant Likely pathogenic rs797045075 GRCh38 Chromosome 4, 6302058: 6302058
49 WFS1 NM_006005.3(WFS1): c.2263T> C (p.Cys755Arg) single nucleotide variant Likely pathogenic rs797045075 GRCh37 Chromosome 4, 6303785: 6303785
50 WFS1 NM_006005.3(WFS1): c.1672C> T (p.Arg558Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199946797 GRCh38 Chromosome 4, 6301467: 6301467

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:

37
# 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 dendrite GO:0030425 9.56 AVP PCSK2 TH WFS1
2 mitochondrial outer membrane GO:0005741 9.5 CISD1 CISD2 TOMM40
3 secretory granule GO:0030141 9.33 AVP PCSK2 SCG5
4 smooth endoplasmic reticulum GO:0005790 9.13 HSPA5 SYVN1 TH
5 integral component of endoplasmic reticulum membrane GO:0030176 8.92 ATF6 HSPA5 SYVN1 WFS1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.61 BAMBI HSPA5 SMURF1
2 response to amphetamine GO:0001975 9.56 DRD5 TH
3 visual perception GO:0007601 9.56 ATF6 EFEMP1 TH WFS1
4 renal water homeostasis GO:0003091 9.55 AVP WFS1
5 peptide hormone processing GO:0016486 9.54 PCSK2 SCG5
6 multicellular organism aging GO:0010259 9.52 CISD2 TH
7 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.51 SYVN1 WFS1
8 synaptic transmission, dopaminergic GO:0001963 9.49 DRD5 TH
9 ER overload response GO:0006983 9.48 HSPA5 WFS1
10 positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress GO:1990440 9.46 ATF6 HSPA5
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 ubiquitin-dependent ERAD pathway GO:0030433 9.33 HSPA5 SYVN1 WFS1
14 mating behavior GO:0007617 9.32 DRD5 TH
15 IRE1-mediated unfolded protein response GO:0036498 9.13 HSPA5 SYVN1 WFS1
16 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 for Wolfram Syndrome

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
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