WFS
MCID: WLF004
MIFTS: 61

Wolfram Syndrome (WFS) malady

Eye, Endocrine, Ear categories

Summaries for Wolfram Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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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 insipidus and wolfram syndrome 2, and has symptoms including autosomal recessive inheritance, cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy and seizures/epilepsy/absences/spasms/status epilepticus. 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 brain, kidney and pancreas, 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:43 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:64 Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and... more...

Description from OMIM:47 222300,604928,598500,614296

Aliases & Classifications for Wolfram Syndrome

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 57SNOMED-CT, 40NCIt, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
wolfram syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Childhood; Age of death: Adult


Aliases & Descriptions:

wolfram syndrome 8 9 43 20 22 21 47 10 45 49 61
didmoad syndrome 43 21 49
didmoad 8 43 21
diabetes mellitus and insipidus with optic atrophy and deafness 8 22
diabetes insipidus and mellitus with optic atrophy and deafness 43 21
diabetes insipidus, diabetes mellitus, optic atrophy, and deafness 21
diabetes insipidus - diabetes mellitus - optic atrophy - deafness 49
didmoadud 21
wfs 43


External Ids:

Disease Ontology8 DOID:10632
NCIt40 C35133
MeSH35 D014929
SNOMED-CT57 70694009
MESH via Orphanet36 D014929
ICD10 via Orphanet26 E10.7, H48.0
SNOMED-CT via Orphanet58 70694009
UMLS via Orphanet62 C0043207

Related Diseases for Wolfram Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to wolfram syndrome

Clinical Features for Wolfram Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

222300,604928,598500,614296

Clinical synopsis from OMIM:

222300

Symptoms:

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

Drugs & Therapeutics for Wolfram Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Wolfram Syndrome:

33
Brain, Kidney, Pancreas, Hypothalamus, Pancreatic islet, Pituitary

Animal Models for Wolfram Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Wolfram Syndrome

Sources:
51PubMed
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Articles related to Wolfram Syndrome:

(show top 50)    (show all 202)
idTitleAuthorsYear
1
EURO-WABB: an EU rare diseases registry for Wolfram syndrome, AlstrAPm syndrome and Bardet-Biedl syndrome. (23981649)
2013
2
Expansion of the clinical ocular spectrum of Wolfram Syndrome in a family carrying a novel WFS1 gene deletion. (23373429)
2013
3
Phenotypic characteristics of early Wolfram syndrome. (23981289)
2013
4
Early presentation of gait impairment in Wolfram Syndrome. (23217193)
2012
5
Balance impairment in individuals with Wolfram syndrome. (22771154)
2012
6
Neurologic features and genotype-phenotype correlation in Wolfram syndrome. (21446023)
2011
7
Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype. (21602428)
2011
8
Endocrine and metabolic aspects of the Wolfram syndrome. (21725703)
2011
9
Wolfram syndrome: important implications for pediatricians and pediatric endocrinologists. (20015125)
2010
10
Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells. (20160352)
2010
11
Identification and characterization of wolframin, the product of the wolfram syndrome gene (WFS1), as a novel calmodulin-binding protein. (19292454)
2009
12
A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. (17846994)
2007
13
The characterisation of the human Wolfram syndrome gene promoter demonstrating regulation by Sp1 and Sp3 transcription factors. (16965966)
2006
14
A novel mutation of WFS1 gene in a Japanese man of Wolfram syndrome with positive diabetes-related antibodies. (16442662)
2006
15
Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with Wolfram syndrome. (16005363)
2005
16
Heterogeneous mutations of Wolfram syndrome I gene responsible for low frequency nonsyndromic hearing loss]. (16408729)
2005
17
Optic atrophy as a sign of wolfram syndrome. (15785992)
2005
18
Two families with nonsyndromic low-frequency hearing loss harbor novel mutations in Wolfram syndrome gene 1. (15912360)
2005
19
Wolfram syndrome. (14725994)
2004
20
Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population. (15070927)
2004
21
Mutations in the Wolfram syndrome type 1 gene (WFS1) define a clinical entity of dominant low-frequency sensorineural hearing loss. (12707187)
2003
22
Molecular characterization of WFS1 in patients with Wolfram syndrome. (12707373)
2003
23
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease. (12955714)
2003
24
Wolfram syndrome: identification of a phenotypic and genotypic variant from Jordan. (12116178)
2002
25
Is there a relationship between Wolfram syndrome carrier status and suicide? (11920861)
2002
26
Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees. (11161832)
2001
27
Wolfram syndrome: a clinical and molecular genetic analysis. (11694551)
2001
28
Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1. (11709538)
2001
29
WFS1/wolframin mutations, Wolfram syndrome, and associated diseases. (11317350)
2001
30
Mutational analysis of the Wolfram syndrome gene in two families with chromosome 4p-linked bipolar affective disorder. (10893488)
2000
31
The mitochondrial genome in Wolfram syndrome. (10928858)
2000
32
Partial Wolfram syndrome (DIDMOAD): two new patients in a family. Diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. (10480791)
1999
33
Role of early fundoscopy for diagnosis of Wolfram syndrome in type 1 diabetic patients. (10480790)
1999
34
Urological manifestations of the Wolfram syndrome: observations in 14 patients. (9915470)
1999
35
Evidence of widespread axonal pathology in Wolfram syndrome. (10483789)
1999
36
MRI of Wolfram syndrome (DIDMOAD). (10552021)
1999
37
Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes. (9027481)
1997
38
Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion. (8651280)
1996
39
Wolfram syndrome: hereditary diabetes mellitus with brainstem and optic atrophy. (8602754)
1996
40
A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome. (8601620)
1996
41
Various clinical aspects of DIDMOAD (Wolfram) syndrome. (7502361)
1995
42
DIDMOAD or Wolfram syndrome. A mitochondrial-mediated disorder. (7497876)
1995
43
Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD). (8071960)
1994
44
Four cases of Wolfram syndrome: ophthalmologic findings and complications. (7894760)
1994
45
Successful pregnancy in two sisters with Wolfram syndrome. (8444596)
1993
46
Wolfram syndrome: mitochondrial disorder. (8105295)
1993
47
Organic mood syndrome in two siblings with Wolfram syndrome. (1521132)
1992
48
Association of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. The Wolfram or DIDMOAD syndrome. (4051539)
1985
49
Wolfram syndrome and HLA. (7366689)
1980
50
Wolfram syndrome not HLA linked. (503176)
1979

Genetic Variations for Wolfram Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Wolfram Syndrome:

63 (show all 22)
id Symbol AA change Variation 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

Sources:
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

Sources:
54Reactome, 56SinoBiological, 30KEGG, 52QIAGEN, 4Cell Signaling Technology
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Compounds for genes affiliated with Wolfram Syndrome

Sources:
45Novoseek, 50PharmGKB, 29IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Wolfram Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1pramipexole45 50 29 1113.2TH, DRD5
2tungsten45 2411.0RECK, BAMBI, WFS1
3methylphenidate45 50 1111.9TH, DRD5
4catecholamine459.9SCG5, DRD5, TH

GO Terms for genes affiliated with Wolfram Syndrome

Sources:
16Gene Ontology
See all sources

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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet