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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42NIH Rare Diseases, 8Disease Ontology, 9diseasecard, 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
Audiologic and vestibular findings in Wolfram syndrome. (23698626)
2013
2
Optic nerve histopathology in a case of Wolfram Syndrome: a mitochondrial pattern of axonal loss. (23748048)
2013
3
Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility. (22781099)
2013
4
A clinical case study of a Wolfram syndrome-affected family: pattern-reversal visual evoked potentials and electroretinography analysis. (22311385)
2012
5
Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease. (22226368)
2012
6
The E3 ligase Smurf1 regulates Wolfram syndrome protein stability at the endoplasmic reticulum. (21454619)
2011
7
A single base-pair deletion in the WFS1 gene causes Wolfram syndrome. (21823543)
2011
8
A case of wolfram syndrome. (22737327)
2010
9
Severe orthostatic dysregulation associated with Wolfram syndrome. (20490821)
2010
10
Wolfram syndrome 1 (Wfs1) mRNA expression in the normal mouse brain during postnatal development. (19428703)
2009
11
Mitochondrial abnormalities drive cell death in Wolfram syndrome 2. (19648948)
2009
12
Psychiatric symptoms in a patient with Wolfram syndrome caused by a combination of thalamic deficit and endocrinological pathologies. (19090413)
2008
13
Wolfram syndrome. Clinical and genetic study in two families]. (18194629)
2008
14
Distribution of Wfs1 protein in the central nervous system of the mouse and its relation to clinical symptoms of the Wolfram syndrome. (18551525)
2008
15
Gene symbol: WFS1. Disease: Wolfram syndrome. (18386376)
2008
16
Familial Wolfram syndrome due to compound heterozygosity for two novel WFS1 mutations. (18660851)
2008
17
Microvascular diabetes complications in Wolfram syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness [DIDMOAD]): an age- and duration-matched comparison with common type 1 diabetes. (17536072)
2007
18
Atrioventricular nodal reentrant tachycardia in two siblings with Wolfram syndrome. (16948749)
2006
19
Wolfram syndrome 1 (WFS1) protein expression in retinal ganglion cells and optic nerve glia of the cynomolgus monkey. (16928372)
2006
20
Wolfram syndrome-associated mutations lead to instability and proteasomal degradation of wolframin. (16806192)
2006
21
Pigmentary maculopathy in a patient with Wolfram syndrome. (16462870)
2006
22
Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified. (16151413)
2005
23
Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene. (15605410)
2005
24
Clinical picture, evolution and peculiar molecular findings in a very large pedigree with Wolfram syndrome. (16459465)
2005
25
Sex-related hearing impairment in Wolfram syndrome patients identified by inactivating WFS1 mutations. (14676474)
2004
26
Phenotype-genotype correlations in a series of wolfram syndrome families. (15277431)
2004
27
Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay. (12754709)
2003
28
Wolfram syndrome and suicide: Evidence for a role of WFS1 in suicidal and impulsive behavior. (12707947)
2003
29
Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product. (12913071)
2003
30
Positional cloning of the gene(WFS1) for Wolfram syndrome]. (11215108)
2000
31
Psychiatric disorders and mutations at the Wolfram syndrome locus. (10812037)
2000
32
Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1. (10521293)
1999
33
A case of Wolfram syndrome in triplets: Some newly recognized features. (17337952)
1999
34
Predisposition of Wolfram syndrome heterozygotes to psychiatric illness. (9491819)
1998
35
Psychiatric disorders in Wolfram syndrome heterozygotes. (9491807)
1998
36
The vasopressin precursor is not processed in the hypothalamus of Wolfram syndrome patients with diabetes insipidus: evidence for the involvement of PC2 and 7B2. (9814487)
1998
37
Evidence of an increased risk of hearing loss in heterozygous carriers in a Wolfram syndrome family. (9856492)
1998
38
Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity. (8808601)
1996
39
Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4. (7987399)
1994
40
DIDMOAD (Wolfram) syndrome. (8137102)
1994
41
Analysis of the contribution of the HLA system to the inheritance in the Wolfram syndrome. (8200299)
1994
42
Wolfram syndrome: a mitochondrial-mediated disorder? (8102726)
1993
43
Mutations in mitochondrial tRNA genes: non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegia. (1542564)
1992
44
A Chinese family with Wolfram syndrome presenting with rapidly progressing diabetic retinopathy and renal failure. (2221817)
1990
45
Primary hypogonadism in two siblings with Wolfram syndrome. (3677989)
1987
46
DIDMOAD syndrome (Wolfram syndrome) in four male siblings. (3144151)
1987
47
The syndrome of diabetes insipidus, diabetes mellitus, optic atrophy, deafness and other abnormalities (DIDMOAD, Wolfram syndrome). (3681183)
1987
48
Linkage between the genes for Wolfram syndrome and brachydactyly E. (3993691)
1985
49
A case of Wolfram syndrome: neurological features. (6299998)
1982
50
Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder, and other abnormalities (Wolfram syndrome). A review of 88 cases from the literature with personal observations on 3 new patients. (270276)
1977

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

Search GEO for disease gene expression data for Wolfram Syndrome.

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