WFS
MCID: WLF004
MIFTS: 70

Wolfram Syndrome (WFS) malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Endocrine diseases, Fetal diseases categories
Download this MalaCard

Summaries for Wolfram Syndrome

About this section


Fully expand this MalaCard
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 based summary: Wolfram Syndrome, also known as didmoad syndrome, is related to wolfram syndrome 2 and waterhouse-friderichsen syndrome, and has symptoms including optic nerve anomaly/optic atrophy/anomaly of the papilla, hearing loss/hypoacusia/deafness and pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria. An important gene associated with Wolfram Syndrome is WFS1 (Wolfram syndrome 1 (wolframin)), and among its related pathways are PERK regulated gene expression and Protein processing in endoplasmic reticulum. The compounds methylphenidate and pramipexole have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and pituitary, and related mouse phenotypes are endocrine/exocrine gland and vision/eye.

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

Descriptions from OMIM:46 604928,222300,598500

Aliases & Classifications for Wolfram Syndrome

About this section
Sources:
42NIH Rare Diseases, 62UMLS, 8Disease Ontology, 9diseasecard, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 39NCIt, 57SNOMED-CT, 34MeSH, 26ICD10 via Orphanet, 63UMLS via Orphanet, 35MESH via Orphanet
See all sources

Wolfram Syndrome, Aliases & Descriptions:

Name: Wolfram Syndrome 8 9 42 20 22 21 46 10 44 48 62
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
 
Didmoadud 21 62
Wfs 42 62
Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness 21
Diabetes Insipidus - Diabetes Mellitus - Optic Atrophy - Deafness 48


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:10632
NCIt39 C35133
MeSH34 D014929
SNOMED-CT57 70694009
ICD10 via Orphanet26 E13.8
UMLS via Orphanet63 C0043207
MESH via Orphanet35 D014929

Related Diseases for Wolfram Syndrome

About this section

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



Diseases related to wolfram syndrome

Symptoms for Wolfram Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

222300

Clinical features from OMIM:

604928,222300,598500

Symptoms:

48 (show all 49)
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • hearing loss/hypoacusia/deafness
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • diabetes insipidus
  • diabetes mellitus
  • autosomal recessive inheritance
  • visual loss/blindness/amblyopia
  • nystagmus
  • renal disease/nephropathy
  • recurrent urinary infections
  • hypoglycemia
  • ataxia/incoordination/trouble of the equilibrium
  • seizures/epilepsy/absences/spasms/status epilepticus
  • elocution disorders/dysarthria/dysphonia
  • psychic/behavioural troubles
  • glaucoma
  • cataract/lens opacification
  • retinopathy
  • ophthalmoplegia/ophthalmoparesis/oculomotor palsy
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • epigastralgia/heartburn/gastric/duodenal ulcer/gastritis
  • malabsorption/chronic diarrhea/steatorrhea
  • constipation
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • apnea/sleep apnea
  • repeat respiratory infections
  • cardiomyopathy/hypertrophic/dilated
  • heart/cardiac failure
  • bladder and ureter anomalies
  • renal failure
  • hypothyroidy
  • late puberty/hypogonadism/hypogenitalism
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • dysautonomia/autonomous nervous sytem anomalies
  • peripheral neuropathy
  • sleep and vigilance disorders
  • obnubilation/coma/lethargia/desorientation
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • psychic/psychomotor regression/dementia/intellectual decline
  • delirium/hallucination
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • psychosis/schizophrenia/maniac disorder
  • myopathy
  • restricted joint mobility/joint stiffness/ankylosis
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • anaemia
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • early death/lethality

HPO human phenotypes related to Wolfram Syndrome:

(show all 68)
id Description Frequency HPO Source Accession
1 hearing impairment hallmark (90%) HP:0000365
2 optic atrophy hallmark (90%) HP:0000648
3 diabetes mellitus hallmark (90%) HP:0000819
4 diabetes insipidus hallmark (90%) HP:0000873
5 recurrent urinary tract infections typical (50%) HP:0000010
6 nephropathy typical (50%) HP:0000112
7 visual impairment typical (50%) HP:0000505
8 nystagmus typical (50%) HP:0000639
9 seizures typical (50%) HP:0001250
10 hypoglycemia typical (50%) HP:0001943
11 neurological speech impairment typical (50%) HP:0002167
12 incoordination typical (50%) HP:0002311
13 abnormality of the genital system occasional (7.5%) HP:0000078
14 renal insufficiency occasional (7.5%) HP:0000083
15 retinopathy occasional (7.5%) HP:0000488
16 glaucoma occasional (7.5%) HP:0000501
17 cataract occasional (7.5%) HP:0000518
18 ophthalmoparesis occasional (7.5%) HP:0000597
19 hallucinations occasional (7.5%) HP:0000738
20 hypothyroidism occasional (7.5%) HP:0000821
21 limitation of joint mobility occasional (7.5%) HP:0001376
22 congestive heart failure occasional (7.5%) HP:0001635
23 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
24 anemia occasional (7.5%) HP:0001903
25 constipation occasional (7.5%) HP:0002019
26 malabsorption occasional (7.5%) HP:0002024
27 respiratory insufficiency occasional (7.5%) HP:0002093
28 apnea occasional (7.5%) HP:0002104
29 cerebral cortical atrophy occasional (7.5%) HP:0002120
30 recurrent respiratory infections occasional (7.5%) HP:0002205
31 gastrointestinal hemorrhage occasional (7.5%) HP:0002239
32 abnormality of the autonomic nervous system occasional (7.5%) HP:0002270
33 sleep disturbance occasional (7.5%) HP:0002360
34 developmental regression occasional (7.5%) HP:0002376
35 myopathy occasional (7.5%) HP:0003198
36 abnormality of the gastric mucosa occasional (7.5%) HP:0004295
37 reduced consciousness/confusion occasional (7.5%) HP:0004372
38 feeding difficulties in infancy occasional (7.5%) HP:0008872
39 peripheral neuropathy occasional (7.5%) HP:0009830
40 cognitive impairment occasional (7.5%) HP:0100543
41 autosomal recessive inheritance HP:0000007
42 neurogenic bladder HP:0000011
43 testicular atrophy HP:0000029
44 hydroureter HP:0000072
45 hydronephrosis HP:0000126
46 sensorineural hearing impairment HP:0000407
47 ptosis HP:0000508
48 pigmentary retinopathy HP:0000580
49 nystagmus HP:0000639
50 optic atrophy HP:0000648
51 behavioral abnormality HP:0000708
52 diabetes mellitus HP:0000819
53 hypothyroidism HP:0000821
54 diabetes insipidus HP:0000873
55 intellectual disability HP:0001249
56 seizures HP:0001250
57 ataxia HP:0001251
58 dysarthria HP:0001260
59 tremor HP:0001337
60 growth delay HP:0001510
61 cardiomyopathy HP:0001638
62 thrombocytopenia HP:0001873
63 megaloblastic anemia HP:0001889
64 sideroblastic anemia HP:0001924
65 dysphagia HP:0002015
66 cerebral atrophy HP:0002059
67 stroke-like episodes HP:0002401
68 limited mobility of proximal interphalangeal joint HP:0006217

Drugs & Therapeutics for Wolfram Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for Wolfram Syndrome

Search NIH Clinical Center for Wolfram Syndrome

Genetic Tests for Wolfram Syndrome

About this section

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

About this section

MalaCards organs/tissues related to Wolfram Syndrome:

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

Animal Models for Wolfram Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Wolfram Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.4TH, CISD2, EFEMP1, WFS1, DRD5
2MP:00053918.3TH, CISD2, EFEMP1, DRD5
3MP:00053678.2HSPA5, CISD2, EFEMP1, DRD5
4MP:00107718.0TH, HSPA5, CISD2, EFEMP1, WFS1
5MP:00053787.9WFS1, EFEMP1, CISD2, HSPA5, TH
6MP:00053857.8TH, HSPA5, CISD2, EFEMP1, DRD5
7MP:00053767.4TH, ATF6, HSPA5, CISD2, EFEMP1, WFS1
8MP:00107687.1RARS2, WFS1, EFEMP1, CISD2, HSPA5, ATF6

Publications for Wolfram Syndrome

About this section

Articles related to Wolfram Syndrome:

(show top 50)    (show all 205)
idTitleAuthorsYear
1
A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2. (25056293)
2014
2
Audiologic and vestibular findings in Wolfram syndrome. (23698626)
2013
3
Vacuolar-type H+-ATPase V1A subunit is a molecular partner of Wolfram syndrome 1 (WFS1) protein, which regulates its expression and stability. (23035048)
2013
4
Expansion of the clinical ocular spectrum of Wolfram Syndrome in a family carrying a novel WFS1 gene deletion. (23373429)
2013
5
Molecular characterization of WFS1 in an Iranian family with Wolfram syndrome reveals a novel frameshift mutation associated with early symptoms. (23845777)
2013
6
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
7
Cataract as a phenotypic marker for a mutation in WFS1, the Wolfram syndrome gene. (21623591)
2012
8
Wolfram syndrome: new mutations, different phenotype. (22238590)
2012
9
A new structural rearrangement associated to Wolfram syndrome in a child with a partial phenotype. (22771918)
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
The mitochondrial ND1 m.3337G>A mutation associated to multiple mitochondrial DNA deletions in a patient with Wolfram syndrome and cardiomyopathy. (21723259)
2011
14
Wolfram syndrome 1 gene (WFS1) product localizes to secretory granules and determines granule acidification in pancreatic beta-cells. (21199859)
2011
15
Premature coronary artery disease in a patient with Wolfram syndrome. (21501987)
2011
16
A case of wolfram syndrome. (22737327)
2010
17
Congenital cataracts in two siblings with Wolfram syndrome. (21067485)
2010
18
Expression and localization of Wolfram syndrome 1 gene in the developing rat pancreas. (19916172)
2009
19
Identification of novel mutations of the WFS1 gene in Brazilian patients with Wolfram syndrome. (19042979)
2009
20
Wolfram syndrome 1 (Wfs1) gene expression in the normal mouse visual system. (18613120)
2008
21
Psychiatric symptoms in a patient with Wolfram syndrome caused by a combination of thalamic deficit and endocrinological pathologies. (19090413)
2008
22
Wolfram syndrome. Clinical and genetic study in two families]. (18194629)
2008
23
Distribution of Wfs1 protein in the central nervous system of the mouse and its relation to clinical symptoms of the Wolfram syndrome. (18551525)
2008
24
A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. (17846994)
2007
25
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
26
Wolfram syndrome: case report and review of the literature. (17914206)
2007
27
Bowel dysfunction in Wolfram syndrome. (16443921)
2006
28
Atrioventricular nodal reentrant tachycardia in two siblings with Wolfram syndrome. (16948749)
2006
29
Imaging characteristics of familial Wolfram syndrome. (15765170)
2005
30
Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified. (16151413)
2005
31
Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with Wolfram syndrome. (16005363)
2005
32
Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene. (15605410)
2005
33
Solitary pancreas transplantation in Wolfram syndrome. (14657707)
2003
34
Bleeding tendency in Wolfram syndrome: a newly identified feature with phenotype genotype correlation. (11317648)
2001
35
Homozygosity for a 4-bp deletion in a patient with Wolfram syndrome suggesting possible phenotype and genotype correlation. (11260218)
2001
36
Mutational analysis of the Wolfram syndrome gene in two families with chromosome 4p-linked bipolar affective disorder. (10893488)
2000
37
Partial Wolfram syndrome (DIDMOAD): two new patients in a family. Diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. (10480791)
1999
38
Role of early fundoscopy for diagnosis of Wolfram syndrome in type 1 diabetic patients. (10480790)
1999
39
Predisposition of Wolfram syndrome heterozygotes to psychiatric illness. (9491819)
1998
40
Psychiatric disorders in Wolfram syndrome heterozygotes. (9491807)
1998
41
Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion. (8651280)
1996
42
Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD). (8071960)
1994
43
Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4. (7987399)
1994
44
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300). (8383698)
1993
45
Successful pregnancy in two sisters with Wolfram syndrome. (8444596)
1993
46
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome). (7609443)
1993
47
A Chinese family with Wolfram syndrome presenting with rapidly progressing diabetic retinopathy and renal failure. (2221817)
1990
48
Primary hypogonadism in two siblings with Wolfram syndrome. (3677989)
1987
49
Optic atrophy in Wolfram syndrome. (3561950)
1986
50
Wolfram syndrome and HLA. (7366689)
1980

Variations for Wolfram Syndrome

About this section

UniProtKB/Swiss-Prot genetic disease variations for Wolfram Syndrome:

64 (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

Clinvar genetic disease variations for Wolfram Syndrome:

6 (show all 20)
id Gene Name Type Significance SNP ID Assembly Location
1WFS1NM_006005.3(WFS1): c.2119G> T (p.Val707Phe)single nucleotide variantPathogenicrs71524377GRCh37Chr 4, 6303641: 6303641
2WFS1WFS1, 8-BP DEL, NT2106deletionPathogenic
3WFS1NM_006005.3(WFS1): c.2051C> T (p.Ala684Val)single nucleotide variantPathogenicrs387906930GRCh37Chr 4, 6303573: 6303573
4WFS1WFS1, 3-BP DEL, VAL415DELdeletionPathogenic
5WFS1WFS1, 4-BP DEL, 1387CTCTdeletionPathogenic
6WFS1WFS1, 2-BP DEL, 2812TCdeletionPathogenic
7WFS1WFS1, 15-BP DEL, NT1685deletionPathogenic
8WFS1NM_006005.3(WFS1): c.2171C> T (p.Pro724Leu)single nucleotide variantPathogenicrs28937890GRCh37Chr 4, 6303693: 6303693
9WFS1NM_006005.3(WFS1): c.2084G> T (p.Gly695Val)single nucleotide variantPathogenicrs28937891GRCh37Chr 4, 6303606: 6303606
10WFS1NM_006005.3(WFS1): c.1944G> A (p.Trp648Ter)single nucleotide variantPathogenicrs104893879GRCh37Chr 4, 6303466: 6303466
11WFS1NM_006005.3(WFS1): c.1511C> T (p.Pro504Leu)single nucleotide variantPathogenicrs28937892GRCh37Chr 4, 6303033: 6303033
12WFS1WFS1, 7-BP INS, NT1610insertionPathogenic
13WFS1WFS1, 9-BP DEL, NT1380deletionPathogenic
14WFS1WFS1, 460, G-A, +1single nucleotide variantPathogenic
15WFS1NM_006005.3(WFS1): c.676C> T (p.Gln226Ter)single nucleotide variantPathogenicrs104893880GRCh37Chr 4, 6293688: 6293688
16WFS1NM_006005.3(WFS1): c.2455C> T (p.Gln819Ter)single nucleotide variantPathogenicrs104893881GRCh37Chr 4, 6303977: 6303977
17WFS1WFS1, 4-BP DEL, NT2648deletionPathogenic
18WFS1NM_006005.3(WFS1): c.409_424dup16 (p.Val142Glyfs)duplicationPathogenicGRCh37Chr 4, 6290807: 6290822
19WFS1WFS1, 16-BP DEL, NT1362deletionPathogenic
20NM_001008388.4(CISD2): c.109G> C (p.Glu37Gln)single nucleotide variantPathogenicrs63749888GRCh37Chr 4, 103806378: 103806378

Expression for genes affiliated with Wolfram Syndrome

About this section
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

About this section

Pathways related to Wolfram Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.0HSPA5, ATF6
28.7WFS1, HSPA5, ATF6
3
Show member pathways
8.7WFS1, HSPA5, ATF6
4
Show member pathways
8.3ATF6, HSPA5, TOMM40, WFS1

Compounds for genes affiliated with Wolfram Syndrome

About this section

Compounds related to Wolfram Syndrome according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1methylphenidate44 50 1111.8DRD5, TH
2pramipexole44 28 50 1112.7TH, DRD5
3apomorphine28 44 1111.7DRD5, TH
4quetiapine44 50 28 24 1113.7DRD5, TH
5levodopa44 1110.6DRD5, TH
6clozapine44 28 50 1112.5TH, DRD5
7catecholamine449.5DRD5, TH
8trolox449.4TH, HSPA5
9haloperidol44 50 28 2 1113.2DRD5, TH
10tunicamycin44 6110.1HSPA5, ATF6
11iron44 249.9TH, HSPA5, CISD2
12dithiothreitol448.9HSPA5, ATF6
13dopamine44 28 24 1111.8DRD5, HSPA5, TH
14thapsigargin44 619.8HSPA5, ATF6, TH

GO Terms for genes affiliated with Wolfram Syndrome

About this section

Cellular components related to Wolfram Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral component of endoplasmic reticulum membraneGO:0301769.3WFS1, HSPA5
2endoplasmic reticulum membraneGO:0057898.0WFS1, CISD2, HSPA5, ATF6

Biological processes related to Wolfram Syndrome according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1multicellular organismal agingGO:0102599.6CISD2, TH
2synaptic transmission, dopaminergicGO:0019639.6DRD5, TH
3ER overload responseGO:0069839.5HSPA5, WFS1
4response to amphetamineGO:0019759.4DRD5, TH
5positive regulation of protein ubiquitinationGO:0313989.3WFS1, HSPA5
6visual perceptionGO:0076019.1TH, EFEMP1, WFS1
7ER-associated ubiquitin-dependent protein catabolic processGO:0304339.0WFS1, HSPA5
8activation of signaling protein activity involved in unfolded protein responseGO:0069878.9WFS1, HSPA5, ATF6
9endoplasmic reticulum unfolded protein responseGO:0309688.9WFS1, HSPA5, ATF6
10cellular protein metabolic processGO:0442678.4ATF6, HSPA5, TOMM40, WFS1

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

idNameGO IDScoreTop Affiliating Genes
1dopamine bindingGO:0352409.5DRD5, TH

Products for genes affiliated with Wolfram Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Wolfram Syndrome

About this section
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet