WFS
MCID: WLF004
MIFTS: 71

Wolfram Syndrome (WFS) malady

Eye diseases, Endocrine diseases, Ear diseases categories

Summaries for Wolfram Syndrome

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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Genetics Home Reference:21 Wolfram syndrome is a condition that affects many of the body's systems. The hallmark features of Wolfram syndrome are high blood sugar levels resulting from a shortage of the hormone insulin (diabetes mellitus) and progressive vision loss due to degeneration of the nerves that carry information from the eyes to the brain (optic atrophy). People with Wolfram syndrome often also have pituitary gland dysfunction that results in the excretion of excessive amounts of urine (diabetes insipidus), hearing loss caused by changes in the inner ear (sensorineural deafness), urinary tract problems, reduced amounts of the sex hormone testosterone in males (hypogonadism), or neurological or psychiatric disorders.

MalaCards: Wolfram Syndrome, also known as didmoad syndrome, is related to diabetes mellitus and diabetes insipidus, and has symptoms including psychic/psychomotor regression/dementia/intellectual decline, intellectual deficit/mental/psychomotor retardation/learning disability and sleep and vigilance disorders. An important gene associated with Wolfram Syndrome is WFS1 (Wolfram syndrome 1 (wolframin)), and among its related pathways are Activation of Chaperone Genes by XBP1(S) and TGF-beta signaling pathway. The compounds pramipexole and tungsten have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and pituitary, and related mouse phenotypes are vision/eye and liver/biliary system.

Disease Ontology:8 A genetic 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).

NIH Rare Diseases:42 Wolfram syndrome, which is also known by the acronym didmoad, is characterized by diabetes insipidus (di); childhood-onset diabetes mellitus (dm); a gradual loss of vision caused by optic atrophy (oa); and deafness (d). other complications that affect the bladder and nervous system may also occur. mutations in two genes have been associated with wolfram syndrome. the majority of cases are associated with mutations in the wfs1 gene. mutations in the cisd2 gene have been identified in three consanguineous families of jordanian descent. the condition is inherited in an autosomal recessive manner. treatment is symptomatic and supportive. last updated: 9/8/2011

Wikipedia:63 Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and... more...

Description from OMIM:46 222300,604928,598500,614296

Aliases & Classifications for Wolfram Syndrome

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye diseases, Endocrine diseases, Ear diseases


Characteristics (Orphanet epidemiological data):

48
wolfram syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Childhood; Age of death: Adult


Aliases & Descriptions:

wolfram syndrome 8 9 42 20 22 21 46 10 44 48 60
didmoad syndrome 42 21 48
didmoad 8 42 21
diabetes mellitus and insipidus with optic atrophy and deafness 8 22
diabetes insipidus and mellitus with optic atrophy and deafness 42 21
diabetes insipidus, diabetes mellitus, optic atrophy, and deafness 21
diabetes insipidus - diabetes mellitus - optic atrophy - deafness 48
didmoadud 21
wfs 42


External Ids:

Disease Ontology8 DOID:10632
NCIt39 C35133
MeSH34 D014929
SNOMED-CT56 70694009
MESH via Orphanet35 D014929
ICD10 via Orphanet26 E10.7, H48.0
SNOMED-CT via Orphanet57 70694009
UMLS via Orphanet61 C0043207

Related Diseases for Wolfram Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Wolfram Syndrome:



Diseases related to wolfram syndrome

Clinical Features for Wolfram Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

222300,604928,598500,614296

Clinical synopsis from OMIM:

222300

Symptoms:

48 (show all 36)
  • psychic/psychomotor regression/dementia/intellectual decline
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • sleep and vigilance disorders
  • peripheral neuropathy
  • dysautonomia/autonomous nervous sytem anomalies
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • delirium/hallucination
  • psychosis/schizophrenia/maniac disorder
  • myopathy
  • restricted joint mobility/joint stiffness/ankylosis
  • anaemia
  • autosomal dominant inheritance
  • early death/lethality
  • nystagmus
  • late puberty/hypogonadism/hypogenitalism
  • cardiomyopathy/hypertrophic/dilated
  • recurrent urinary infections
  • renal disease/nephropathy
  • bladder and ureter anomalies
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • autosomal recessive inheritance
  • diabetes mellitus
  • diabetes insipidus
  • sensorineural deafness/hearing loss
  • ataxia/incoordination/trouble of the equilibrium
  • seizures/epilepsy/absences/spasms/status epilepticus
  • elocution disorders/dysarthria/dysphonia
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • constipation
  • malabsorption/chronic diarrhea/steatorrhea
  • epigastralgia/heartburn/gastric/duodenal ulcer/gastritis
  • ophthalmoplegia/ophthalmoparesis/oculomotor palsy
  • glaucoma
  • psychic/behavioural troubles
  • optic nerve anomaly/optic atrophy/anomaly of the papilla

Drugs & Therapeutics for Wolfram Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Wolfram Syndrome

Drug clinical trials:

Search ClinicalTrials for Wolfram Syndrome

Search NIH Clinical Center for Wolfram Syndrome

Search CenterWatch for Wolfram Syndrome

Genetic Tests for Wolfram Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Wolfram Syndrome:

id Genetic test Affiliating Genes
1 Wolfram Syndrome20 22 WFS1
2 Diabetes Mellitus and Insipidus with Optic Atrophy and Deafness22

Anatomical Context for Wolfram Syndrome

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32MalaCards
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MalaCards organs/tissues related to Wolfram Syndrome:

32
Eye, Brain, Pituitary, Lung, Pancreas, Kidney, Hypothalamus

Animal Models for Wolfram Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Wolfram Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.5OPA3, CISD2, EFEMP1, TH, SP3, DRD5
2MP:00053709.4SCG5, OPA3, ATF6, EFEMP1, RECK, TH
3MP:00107719.2SCG5, CISD2, WFS1, BAMBI, EFEMP1, RECK
4MP:00053909.2SMURF1, OPA3, CISD2, SYVN1, BAMBI, EFEMP1
5MP:00053859.0SCG5, DRD5, OPA3, CISD2, EFEMP1, RECK
6MP:00053788.7SCG5, OPA3, CISD2, WFS1, BAMBI, EFEMP1
7MP:00107688.5SCG5, OPA3, CISD2, ATF6, SYVN1, WFS1

Publications for Wolfram Syndrome

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50PubMed
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Articles related to Wolfram Syndrome:

(show top 50)    (show all 201)
idTitleAuthorsYear
1
Wolfram Syndrome protein, Miner1, regulates sulphydryl redox status, the unfolded protein response, and Ca2+ homeostasis. (23703906)
2013
2
Novel homozygous mutation in exon 5 of WFS1 gene in an Apulian family with mild phenotypic expression of Wolfram syndrome. (24117146)
2013
3
Clinical and molecular genetic analysis of a new mutation in children with Wolfram syndrome: a case report. (23338790)
2013
4
Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro). (21968327)
2012
5
Wolfram syndrome: new mutations, different phenotype. (22238590)
2012
6
A new structural rearrangement associated to Wolfram syndrome in a child with a partial phenotype. (22771918)
2012
7
Early brain vulnerability in Wolfram syndrome. (22792385)
2012
8
Wolfram syndrome 1 and adenylyl cyclase 8 interact at the plasma membrane to regulate insulin production and secretion. (22983116)
2012
9
Visual improvement with the use of idebenone in the treatment of Wolfram syndrome. (23196951)
2012
10
Wolfram Syndrome: a rare optic neuropathy in youth with type 1 diabetes. (21892113)
2011
11
Neurologic features and genotype-phenotype correlation in Wolfram syndrome. (21446023)
2011
12
Neuropathy in Wolfram syndrome. (20888932)
2011
13
Wolfram syndrome 1 gene (WFS1) product localizes to secretory granules and determines granule acidification in pancreatic beta-cells. (21199859)
2011
14
An Asian Indian woman with Wolfram syndrome on insulin pump: successful pregnancy and beyond. (21517693)
2011
15
Wolfram syndrome: a clinicopathologic correlation. (19449020)
2009
16
Crystal structure of Miner1: The redox-active 2Fe-2S protein causative in Wolfram Syndrome 2. (19580816)
2009
17
Wolfram Syndrome presenting with optic atrophy and diabetes mellitus: two case reports. (20062605)
2009
18
Wolfram syndrome (diabetes insipidus, diabetes, optic atrophy, and deafness): clinical and genetic study. (18566338)
2008
19
Hearing impairment in genotyped Wolfram syndrome patients. (18700423)
2008
20
Wolfram syndrome. (18697639)
2008
21
Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome. (17568405)
2007
22
Bowel dysfunction in Wolfram syndrome. (16443921)
2006
23
Wolfram syndrome: from definition to molecular bases]. (17160206)
2006
24
A new mutation in WFS1 gene (C.1522-1523delTA, Y508fsX421) may be responsible for early appearance of clinical features of Wolfram syndrome and suicidal behaviour. (17187023)
2006
25
Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with Wolfram syndrome. (16005363)
2005
26
Wolfram syndrome. How much could knowledge challenge the fate? A case report. (15990695)
2005
27
Solitary pancreas transplantation in Wolfram syndrome. (14657707)
2003
28
The WFS1 (Wolfram syndrome 1) is not a major susceptibility gene for the development of psychiatric disorders. (12605098)
2003
29
Wolfram syndrome. (12618560)
2003
30
Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees. (11161832)
2001
31
Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. (11709537)
2001
32
Kidney transplantation unraveling Wolfram syndrome: a case report. (11571467)
2001
33
Wolfram syndrome in a family with variable expression. (11811080)
2001
34
A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram Syndrome). (9771706)
1998
35
Optic atrophy in Wolfram (DIDMOAD) syndrome. (9537152)
1997
36
Wolfram syndrome. A report of four cases and review of the literature. (7850272)
1994
37
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome). (7609443)
1993
38
Wolfram syndrome: mitochondrial disorder. (8105296)
1993
39
Wolfram syndrome: evidence of a diffuse neurodegenerative disease by magnetic resonance imaging. (1603350)
1992
40
Psychiatric disorders in 36 families with Wolfram syndrome. (2035720)
1991
41
Juvenile onset diabetes mellitus, central diabetes insipidus and optic atrophy (Wolfram syndrome)--neurological findings and prognostic implications. (1857494)
1991
42
Psychiatric findings in Wolfram syndrome homozygotes. (1975860)
1990
43
Incomplete Wolfram syndrome: clinical and electrophysiologic study of two familial cases. (2721980)
1989
44
Vasopressin secretion in the DIDMOAD (Wolfram) syndrome. (2687931)
1989
45
Wolfram syndrome: a tribute to Don J. Wolfram, M.D. [corrected]. (2666507)
1989
46
Wolfram syndrome with limited joint mobility. (3429430)
1987
47
Wolfram syndrome: report of four new cases and a review of literature. (3461931)
1986
48
DIDMOAD (Wolfram) syndrome. (2871343)
1986
49
Wolfram syndrome and HLA. (7366689)
1980
50
Wolfram syndrome. (685898)
1978

Genetic Variations for Wolfram Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Wolfram Syndrome:

62 (show all 22)
id Symbol AA change Variation ID SNP ID
1WFS1p.Pro504LeuVAR_005842rs28937892
2WFS1p.Gly695ValVAR_005844rs28937891
3WFS1p.Pro724LeuVAR_005845rs28937890
4WFS1p.Glu169LysVAR_009109
5WFS1p.Pro292SerVAR_009110
6WFS1p.Ile296SerVAR_009111
7WFS1p.Gly437ArgVAR_009114
8WFS1p.Cys690ArgVAR_009116
9WFS1p.Trp700CysVAR_009117
10WFS1p.Gly736SerVAR_009118
11WFS1p.Pro885LeuVAR_009119
12WFS1p.Ala58ValVAR_011305
13WFS1p.Ala126ThrVAR_011306
14WFS1p.Ser443IleVAR_011308
15WFS1p.Gly780ArgVAR_011313
16WFS1p.Arg818CysVAR_011314rs35932623
17WFS1p.Ala133ThrVAR_014034
18WFS1p.Tyr669CysVAR_014038
19WFS1p.Tyr110AsnVAR_029499
20WFS1p.Arg457SerVAR_029502
21WFS1p.Arg629TrpVAR_029505rs71530910
22WFS1p.Arg558CysVAR_068343

Expression for genes affiliated with Wolfram Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Wolfram Syndrome

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Pathways for genes affiliated with Wolfram Syndrome

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53Reactome, 29KEGG, 55SinoBiological, 51QIAGEN, 4Cell Signaling Technology
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Compounds for genes affiliated with Wolfram Syndrome

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44Novoseek, 49PharmGKB, 28IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Wolfram Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1pramipexole44 49 28 1113.2TH, DRD5
2tungsten44 2411.0RECK, BAMBI, WFS1
3methylphenidate44 49 1111.9TH, DRD5
4catecholamine449.9SCG5, DRD5, TH

GO Terms for genes affiliated with Wolfram Syndrome

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16Gene Ontology
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Biological processes related to Wolfram Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1synaptic transmission, dopaminergicGO:00196310.1TH, DRD5
2activation of signaling protein activity involved in unfolded protein responseGO:00698710.1WFS1, SYVN1, ATF6
3embryonic camera-type eye morphogenesisGO:04859610.1SP3, TH
4visual perceptionGO:00760110.0TH, EFEMP1, WFS1, OPA3
5endoplasmic reticulum unfolded protein responseGO:03096810.0ATF6, SYVN1, WFS1
6multicellular organismal agingGO:0102599.9TH, CISD2

Molecular functions related to Wolfram Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
12 iron, 2 sulfur cluster bindingGO:05153710.2CISD2, CISD1
2dopamine bindingGO:0352409.9TH, DRD5

Products for genes affiliated with Wolfram Syndrome

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Sources for Wolfram Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet