MCID: WLF004
MIFTS: 62

Wolfram Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Endocrine diseases, Fetal diseases categories

Aliases & Classifications for Wolfram Syndrome

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 42NCIt, 59SNOMED-CT, 66UMLS via Orphanet, 37MESH via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Wolfram Syndrome:

Name: Wolfram Syndrome 49 10 11 45 22 23 47 12 51 24 65 36
Didmoad Syndrome 45 22 23 51
Didmoad 10 45 23 67
Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness 45 23
Diabetes Mellitus and Insipidus with Optic Atrophy and Deafness 10 24
Wfs 45 67
 
Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness Syndrome 67
Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness 23
Diabetes Insipidus - Diabetes Mellitus - Optic Atrophy - Deafness 51
Wolfram Syndrome 1 67
Didmoadud 23
Wfs1 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
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


External Ids:

OMIM49 222300
Disease Ontology10 DOID:10632
NCIt42 C35133
MeSH36 D014929
SNOMED-CT59 70694009
Orphanet51 3463
UMLS via Orphanet66 C0043207
MESH via Orphanet37 D014929
MedGen34 C0043207

Summaries for Wolfram Syndrome

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OMIM:49 Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes... (222300) more...

MalaCards based summary: Wolfram Syndrome, also known as didmoad syndrome, is related to wolfram syndrome 2 and deafness, autosomal dominant 6/14/38, and has symptoms including hearing impairment, optic atrophy and diabetes mellitus. An important gene associated with Wolfram Syndrome is WFS1 (Wolfram Syndrome 1 (Wolframin)), and among its related pathways are Biogenic Amine Synthesis and Dopamine metabolism. Affiliated tissues include eye, brain and pituitary, and related mouse phenotypes are endocrine/exocrine gland and renal/urinary system.

Disease Ontology:10 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).

Genetics Home Reference:23 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.

NIH Rare Diseases:45 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). 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. treatment is symptomatic and supportive. last updated: 12/8/2014

UniProtKB/Swiss-Prot:67 Wolfram syndrome 1: A rare disorder characterized by juvenile-onset insulin-dependent diabetes mellitus with optic atrophy. Other manifestations include diabetes insipidus, sensorineural deafness, dementia, psychiatric illnesses.

Related Diseases for Wolfram Syndrome

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Diseases in the Wolfram Syndrome family:

Wolfram-Like Syndrome, Autosomal Dominant Wolfram Syndrome 2
Wolfram Syndrome-Like Disease

Diseases related to Wolfram Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 100)
idRelated DiseaseScoreTop Affiliating Genes
1wolfram syndrome 231.2CISD2, TOMM40, WFS1
2deafness, autosomal dominant 6/14/3810.7
3autosomal dominant non-syndromic sensorineural deafness type dfna10.7
4diabetes insipidus10.5
5sensorineural hearing loss10.4
6neuropathy10.3
7wolfram syndrome-like disease10.3
8nuclear cataract10.3
9immunodeficiency 1010.2
10acquired immunodeficiency syndrome10.2
11human immunodeficiency virus infectious disease10.2
12ipex syndrome10.2
13adult syndrome10.2
14optic atrophy 110.2
15optic atrophy plus syndrome10.2
16multiple system atrophy10.2
17diabetes mellitus, ketosis-prone10.2
18diabetes mellitus, insulin-dependent, 210.2
19diabetes mellitus, insulin-dependent10.2
203-methylglutaconic aciduria, type iii10.2
21diabetes insipidus, neurohypophyseal10.2
22cataract10.2
23foster-kennedy syndrome10.2
24primary optic atrophy10.2
25spiradenoma10.2
26auditory system disease10.2
27congenital nervous system abnormality10.2
28cranial nerve disease10.2
29eye disease10.2
30glucose metabolism disease10.2
31optic nerve disease10.2
32pituitary gland disease10.2
33retinitis10.2
34urinary system disease10.2
35hearing disorders and deafness10.2
36neurologic diseases10.2
37deafness and hereditary hearing loss10.2
38mitochondrial disorders10.2
39optic atrophy 1 and deafness10.2
40optic atrophy 210.2
41hearing loss/deafness10.2
42diabetes and hearing loss10.2
43cataract 4110.2
44non-syndromic congenital cataract10.2
45upper gum cancer10.2CISD2, WFS1
46retinitis pigmentosa 4610.1AVP, WFS1
47juvenile glaucoma10.1
48leber hereditary optic neuropathy10.1
49myopia10.1
50nutritional deficiency disease10.1

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



Diseases related to wolfram syndrome

Symptoms for Wolfram Syndrome

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Symptoms by clinical synopsis from OMIM:

222300

Clinical features from OMIM:

222300

Symptoms:

 51 (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

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Drugs for Wolfram Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Exenatideapproved, investigational257141758-74-915991534
Synonyms:
141732-76-5
141758-74-9
286014-72-0
335149-21-8
AC 2993
AC 2993 LAR
AC 2993A
AC-2993
AC002993
AC2993
AC2993a
Bydureon
Byetta
 
C074031
CHEBI:490990
CHEMBL414357
Ex4 peptide
Exenatide
Exenatide Synthetic
Exenatide synthetic
Exendin 4
Exendin 4 (Heloderma suspectum)
Exendin-4
Extendin-4
LY2148568
Synthetic exendin-4
UNII-9P1872D4OL
2Insulin, Globin Zinc4069
3insulin4069
4Glucagon-Like Peptide 1652

Interventional clinical trials:

idNameStatusNCT IDPhase
1Tracking Neurodegeneration in Early Wolfram SyndromeRecruitingNCT02455414
2European Home Mechanical Ventilation RegistryRecruitingNCT02315339
3GLP Analogs for Diabetes in Wolfram Syndrome PatientsNot yet recruitingNCT01302327
4Adaptive Behavior Assessment of Men With 49, XXXXY, Klinefelter SyndromeWithdrawnNCT00347464

Search NIH Clinical Center for Wolfram Syndrome


Cochrane evidence based reviews: Wolfram Syndrome

Genetic Tests for Wolfram Syndrome

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Genetic tests related to Wolfram Syndrome:

id Genetic test Affiliating Genes
1 Wolfram Syndrome22 24 WFS1
2 Diabetes Mellitus and Insipidus with Optic Atrophy and Deafness24

Anatomical Context for Wolfram Syndrome

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MalaCards organs/tissues related to Wolfram Syndrome:

33
Eye, Brain, Pituitary, Heart, Lung, Pancreas, Kidney

Animal Models for Wolfram Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Wolfram Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.7CISD2, DRD5, EFEMP1, PCSK2, TH, WFS1
2MP:00053678.6AVP, CISD2, COMT, DRD5, EFEMP1, HSPA5
3MP:00107717.7BAMBI, CISD2, EFEMP1, HSPA5, PCSK2, RECK
4MP:00053857.6CISD2, COMT, DRD5, EFEMP1, HSPA5, PCSK2
5MP:00053767.2ATF6, AVP, CISD2, COMT, EFEMP1, HSPA5
6MP:00107687.1ATF6, AVP, CISD2, EFEMP1, HSPA5, PCSK2

Publications for Wolfram Syndrome

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Articles related to Wolfram Syndrome:

(show top 50)    (show all 220)
idTitleAuthorsYear
1
RETRACTION: Wolfram syndrome 1 and adenylyl cyclase 8 interact at the plasma membrane to regulate insulin production and secretion. (25679031)
2015
2
A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2. (25056293)
2014
3
Central nervous system PET-CT imaging reveals regional impairments in pediatric patients with Wolfram syndrome. (25542043)
2014
4
EURO-WABB: an EU rare diseases registry for Wolfram syndrome, AlstrAPm syndrome and Bardet-Biedl syndrome. (23981649)
2013
5
Audiologic and vestibular findings in Wolfram syndrome. (23698626)
2013
6
Vacuolar-type H+-ATPase V1A subunit is a molecular partner of Wolfram syndrome 1 (WFS1) protein, which regulates its expression and stability. (23035048)
2013
7
Expansion of the clinical ocular spectrum of Wolfram Syndrome in a family carrying a novel WFS1 gene deletion. (23373429)
2013
8
Molecular characterization of WFS1 in an Iranian family with Wolfram syndrome reveals a novel frameshift mutation associated with early symptoms. (23845777)
2013
9
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
10
Cataract as a phenotypic marker for a mutation in WFS1, the Wolfram syndrome gene. (21623591)
2012
11
Wolfram syndrome: new mutations, different phenotype. (22238590)
2012
12
A new structural rearrangement associated to Wolfram syndrome in a child with a partial phenotype. (22771918)
2012
13
Wolfram Syndrome: a rare optic neuropathy in youth with type 1 diabetes. (21892113)
2011
14
Neurologic features and genotype-phenotype correlation in Wolfram syndrome. (21446023)
2011
15
Neuropathy in Wolfram syndrome. (20888932)
2011
16
The mitochondrial ND1 m.3337G>A mutation associated to multiple mitochondrial DNA deletions in a patient with Wolfram syndrome and cardiomyopathy. (21723259)
2011
17
Wolfram syndrome 1 gene (WFS1) product localizes to secretory granules and determines granule acidification in pancreatic beta-cells. (21199859)
2011
18
A case of wolfram syndrome. (22737327)
2010
19
Expression and localization of Wolfram syndrome 1 gene in the developing rat pancreas. (19916172)
2009
20
Identification of novel mutations of the WFS1 gene in Brazilian patients with Wolfram syndrome. (19042979)
2009
21
Wolfram syndrome 1 (Wfs1) gene expression in the normal mouse visual system. (18613120)
2008
22
Psychiatric symptoms in a patient with Wolfram syndrome caused by a combination of thalamic deficit and endocrinological pathologies. (19090413)
2008
23
Wolfram syndrome. Clinical and genetic study in two families]. (18194629)
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

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

67 (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:

5 (show all 26)
id Gene Variation Type Significance SNP ID Assembly Location
1NM_001008388.4(CISD2): c.(104_304)-84_318+724deldeletionPathogenicGRCh38Chr 4, 102885132: 102887186
2WFS1NM_006005.3(WFS1): c.124C> T (p.Arg42Ter)single nucleotide variantPathogenicrs71530923GRCh37Chr 4, 6279306: 6279306
3WFS1NM_006005.3(WFS1): c.1672C> T (p.Arg558Cys)single nucleotide variantLikely pathogenicrs199946797GRCh37Chr 4, 6303194: 6303194
4WFS1NM_006005.3(WFS1): c.2263T> C (p.Cys755Arg)single nucleotide variantLikely pathogenicrs797045075GRCh37Chr 4, 6303785: 6303785
5WFS1NM_006005.3(WFS1): c.2648_2651delTCTT (p.Phe883Serfs)deletionPathogenicrs797045076GRCh37Chr 4, 6304169: 6304173
6WFS1NM_006005.3(WFS1): c.2119G> T (p.Val707Phe)single nucleotide variantPathogenicrs71524377GRCh37Chr 4, 6303641: 6303641
7WFS1WFS1, 8-BP DEL, NT2106deletionPathogenic
8WFS1NM_006005.3(WFS1): c.2051C> T (p.Ala684Val)single nucleotide variantPathogenicrs387906930GRCh37Chr 4, 6303573: 6303573
9WFS1WFS1, 3-BP DEL, VAL415DELdeletionPathogenic
10WFS1WFS1, 4-BP DEL, 1387CTCTdeletionPathogenic
11WFS1WFS1, 2-BP DEL, 2812TCdeletionPathogenic
12WFS1WFS1, 15-BP DEL, NT1685deletionPathogenic
13WFS1NM_006005.3(WFS1): c.2171C> T (p.Pro724Leu)single nucleotide variantPathogenicrs28937890GRCh37Chr 4, 6303693: 6303693
14WFS1NM_006005.3(WFS1): c.2084G> T (p.Gly695Val)single nucleotide variantPathogenicrs28937891GRCh37Chr 4, 6303606: 6303606
15WFS1NM_006005.3(WFS1): c.1944G> A (p.Trp648Ter)single nucleotide variantPathogenicrs104893879GRCh37Chr 4, 6303466: 6303466
16WFS1NM_006005.3(WFS1): c.1511C> T (p.Pro504Leu)single nucleotide variantPathogenicrs28937892GRCh37Chr 4, 6303033: 6303033
17WFS1WFS1, 7-BP INS, NT1610insertionPathogenic
18WFS1WFS1, 9-BP DEL, NT1380deletionPathogenic
19WFS1WFS1, 460, G-A, +1single nucleotide variantPathogenic
20WFS1NM_006005.3(WFS1): c.676C> T (p.Gln226Ter)single nucleotide variantPathogenicrs104893880GRCh37Chr 4, 6293688: 6293688
21WFS1NM_006005.3(WFS1): c.2455C> T (p.Gln819Ter)single nucleotide variantPathogenicrs104893881GRCh37Chr 4, 6303977: 6303977
22WFS1WFS1, 4-BP DEL, NT2648deletionPathogenic
23WFS1NM_006005.3(WFS1): c.409_424dup16 (p.Val142Glyfs)duplicationPathogenicrs587776598GRCh37Chr 4, 6290807: 6290822
24WFS1NM_006005.3(WFS1): c.2146G> A (p.Ala716Thr)single nucleotide variantLikely pathogenic, Pathogenicrs28937893GRCh37Chr 4, 6303668: 6303668
25WFS1WFS1, 16-BP DEL, NT1362deletionPathogenic
26NM_001008388.4(CISD2): c.109G> C (p.Glu37Gln)single nucleotide variantPathogenicrs63749888GRCh37Chr 4, 103806378: 103806378

Expression for genes affiliated with Wolfram Syndrome

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Search GEO for disease gene expression data for Wolfram Syndrome.

Pathways for genes affiliated with Wolfram Syndrome

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GO Terms for genes affiliated with Wolfram Syndrome

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Cellular components related to Wolfram Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1smooth endoplasmic reticulumGO:00057909.3HSPA5, SYVN1, TH
2dendriteGO:00304259.0AVP, COMT, PCSK2, TH, WFS1
3integral component of endoplasmic reticulum membraneGO:00301769.0ATF6, HSPA5, SYVN1, WFS1
4endoplasmic reticulum membraneGO:00057898.8ATF6, CISD2, HSPA5, SYVN1, WFS1
5endoplasmic reticulumGO:00057838.5ATF6, CISD2, HSPA5, SYVN1, WFS1

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1renal water homeostasisGO:000309110.5AVP, WFS1
2ER overload responseGO:000698310.5HSPA5, WFS1
3ATF6-mediated unfolded protein responseGO:003650010.4ATF6, HSPA5
4positive regulation of adenylate cyclase activityGO:004576210.4DRD5, WFS1
5positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stressGO:199044010.3ATF6, HSPA5
6mating behaviorGO:000761710.3DRD5, TH
7negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathwayGO:190223610.3SYVN1, WFS1
8multicellular organismal agingGO:00102599.8CISD2, TH
9neurotransmitter biosynthetic processGO:00421369.8COMT, TH
10synaptic transmission, dopaminergicGO:00019639.7DRD5, TH
11IRE1-mediated unfolded protein responseGO:00364989.7HSPA5, SYVN1, WFS1
12response to amphetamineGO:00019759.6DRD5, TH
13ER-associated ubiquitin-dependent protein catabolic processGO:00304339.6HSPA5, SYVN1, WFS1
14response to organic cyclic compoundGO:00140709.5AVP, COMT, TH
15visual perceptionGO:00076019.5EFEMP1, TH, WFS1
16endoplasmic reticulum unfolded protein responseGO:00309689.3ATF6, HSPA5, SYVN1, WFS1
17learningGO:00076128.8COMT, DRD5, TH
18cellular protein metabolic processGO:00442678.5ATF6, HSPA5, PCSK2, SYVN1, TOMM40, WFS1

Molecular functions related to Wolfram Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1dopamine bindingGO:00352409.7DRD5, TH

Sources for Wolfram Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet