WFS1
MCID: WLF004
MIFTS: 61

Wolfram Syndrome (WFS1) malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Wolfram Syndrome

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Aliases & Descriptions for Wolfram Syndrome:

Name: Wolfram Syndrome 52 11 48 24 25 54 27 12 50 39 13 68
Didmoad 11 48 24 25 70
Wolfram Syndrome 1 11 70 13
Didmoad Syndrome 48 25 54
Wfs 11 48 70
Diabetes Mellitus and Insipidus with Optic Atrophy and Deafness 11 27
 
Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness 48 25
Wfs1 11 70
Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness Syndrome 70
Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome 54
Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness 25
Didmoadud 25

Characteristics:

Orphanet epidemiological data:

54
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

HPO:

64
wolfram syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 222300
Disease Ontology11 DOID:0110629, DOID:10632
ICD1030 E13.8
MeSH39 D014929
NCIt45 C35133
SNOMED-CT62 70694009
Orphanet54 ORPHA3463
UMLS via Orphanet69 C0043207
MESH via Orphanet40 D014929
MedGen37 C0043207

Summaries for Wolfram Syndrome

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OMIM:52 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, is related to wolfram-like syndrome, autosomal dominant and wolfram syndrome 2, and has symptoms including ataxia, ataxia and seizures. An important gene associated with Wolfram Syndrome is WFS1 (Wolframin ER Transmembrane Glycoprotein), and among its related pathways are Photodynamic therapy-induced unfolded protein response and Protein processing in endoplasmic reticulum. Affiliated tissues include eye, brain and pituitary, and related mouse phenotypes are endocrine/exocrine gland and renal/urinary system.

Disease Ontology:11 An autosomal recessive 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:25 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:48 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:70 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.

Wikipedia:71 Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and... more...

Related Diseases for Wolfram Syndrome

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



Diseases related to wolfram syndrome

Symptoms & Phenotypes for Wolfram Syndrome

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Symptoms by clinical synopsis from OMIM:

222300

Clinical features from OMIM:

222300

Human phenotypes related to Wolfram Syndrome:

 54 64 (show all 56)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent urinary tract infections64 54 Frequent (79-30%) HP:0000010
2 male hypogonadism64 54 Occasional (29-5%) HP:0000026
3 abnormality of the urinary system54 Frequent (79-30%)
4 nephropathy64 54 Frequent (79-30%) HP:0000112
5 hypogonadism54 Occasional (29-5%)
6 sensorineural hearing impairment64 54 Very frequent (99-80%) HP:0000407
7 glaucoma64 54 Occasional (29-5%) HP:0000501
8 ophthalmoplegia64 54 Occasional (29-5%) HP:0000602
9 nystagmus64 54 Frequent (79-30%) HP:0000639
10 optic atrophy64 54 Very frequent (99-80%) HP:0000648
11 behavioral abnormality64 54 Occasional (29-5%) HP:0000708
12 dementia64 54 Occasional (29-5%) HP:0000726
13 hallucinations64 54 Occasional (29-5%) HP:0000738
14 diabetes mellitus64 54 Very frequent (99-80%) HP:0000819
15 delayed puberty64 54 Occasional (29-5%) HP:0000823
16 diabetes insipidus64 54 Very frequent (99-80%) HP:0000873
17 intellectual disability64 54 Occasional (29-5%) HP:0001249
18 seizures64 54 Frequent (79-30%) HP:0001250
19 ataxia64 54 Frequent (79-30%) HP:0001251
20 dysarthria64 54 Frequent (79-30%) HP:0001260
21 joint stiffness64 54 Occasional (29-5%) HP:0001387
22 cardiomyopathy64 54 Occasional (29-5%) HP:0001638
23 anemia64 54 Occasional (29-5%) HP:0001903
24 polydipsia64 54 Very frequent (99-80%) HP:0001959
25 constipation64 54 Occasional (29-5%) HP:0002019
26 malabsorption64 54 Occasional (29-5%) HP:0002024
27 respiratory insufficiency64 54 Occasional (29-5%) HP:0002093
28 cerebral cortical atrophy64 54 Occasional (29-5%) HP:0002120
29 gastrointestinal hemorrhage64 54 Occasional (29-5%) HP:0002239
30 sleep disturbance64 54 Occasional (29-5%) HP:0002360
31 developmental regression64 54 Occasional (29-5%) HP:0002376
32 dysautonomia64 54 Occasional (29-5%) HP:0002459
33 gastric ulcer64 54 Occasional (29-5%) HP:0002592
34 central apnea64 54 Occasional (29-5%) HP:0002871
35 myopathy64 54 Occasional (29-5%) HP:0003198
36 feeding difficulties in infancy64 54 Frequent (79-30%) HP:0008872
37 peripheral neuropathy64 54 Occasional (29-5%) HP:0009830
38 abnormality of the mesentery54 Frequent (79-30%)
39 dysuria64 54 Frequent (79-30%) HP:0100518
40 neurogenic bladder64 HP:0000011
41 testicular atrophy64 HP:0000029
42 hydroureter64 HP:0000072
43 hydronephrosis64 HP:0000126
44 ptosis64 HP:0000508
45 pigmentary retinopathy64 HP:0000580
46 hypothyroidism64 HP:0000821
47 tremor64 HP:0001337
48 growth delay64 HP:0001510
49 thrombocytopenia64 HP:0001873
50 megaloblastic anemia64 HP:0001889
51 sideroblastic anemia64 HP:0001924
52 dysphagia64 HP:0002015
53 cerebral atrophy64 HP:0002059
54 stroke-like episodes64 HP:0002401
55 limited mobility of proximal interphalangeal joint64 HP:0006217
56 abnormality of mesentery morphology64 HP:0100016

UMLS symptoms related to Wolfram Syndrome:


ataxia, seizures, tremor

MGI Mouse Phenotypes related to Wolfram Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.8ATF6, CISD2, COMT, DRD5, EFEMP1, PCSK2
2MP:00053678.6AVP, CISD2, COMT, DRD5, EFEMP1, HSPA5
3MP:00053858.6CISD2, COMT, DRD5, EFEMP1, HSPA5, PCSK2
4MP:00107718.2ADCY8, BAMBI, CISD2, EFEMP1, HSPA5, PCSK2
5MP:00053787.3ADCY8, ATF6, BAMBI, CISD2, EFEMP1, HSPA5
6MP:00053867.3ADCY8, AVP, BAMBI, CISD2, COMT, DRD5
7MP:00107687.2ATF6, AVP, CISD2, DRD5, EFEMP1, HSPA5

Drugs & Therapeutics for Wolfram Syndrome

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

(show all 30)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DeferiproneapprovedPhase 2, Phase 35730652-11-02972
Synonyms:
1,2-Dimethyl-3-hydroxypyrid-4-one
3-Hydroxy-1,2-dimethyl-4(1H)-pyridone
APO-066
CP-20
DN-180-01-AF
Deferipron
 
Deferiprona
Deferiproni
Deferipronum
Deferypron
Dimethylhydroxypyridone
Défériprone
Ferriprox
PL-1
2
IronapprovedPhase 2, Phase 311657439-89-623925
Synonyms:
02583_FLUKA
12310_ALDRICH
12310_RIEDEL
129048-51-7
14067-02-8
161135-39-3
190454-13-8
195161-83-2
199281-22-6
209309_ALDRICH
209309_SIAL
255637_ALDRICH
266213_ALDRICH
266256_ALDRICH
267945_ALDRICH
267953_ALDRICH
26Fe
338141_ALDRICH
356808_ALDRICH
356824_ALDRICH
356832_ALDRICH
39344-71-3
3ZhP
413054_ALDRICH
443783-52-6
44890_ALDRICH
44890_FLUKA
675141-17-0
70884-35-4
73135-38-3
7439-89-6
8011-79-8
8053-60-9
AC1L2N38
ATW 230
ATW 432
Ancor B
Ancor en 80/150
Armco iron
Atomel 28
Atomel 300M200
Atomel 500M
Atomel 95
Atomiron 44MR
Atomiron 5M
Atomiron AFP 25
Atomiron AFP 5
C00023
C3518_SIAL
C3518_SIGMA
CCRIS 1580
CHEBI:18248
CID23925
Carbonyl iron
Copy Powder CS 105-175
D007501
DB01592
DSP 1000
DSP 128B
DSP 135
DSP 135C
DSP 138
Diseases (animal), iron overload
Diseases, iron overload
EF 1000
EF 250
EFV 200/300
EFV 250
EFV 250/400
EINECS 231-096-4
 
Ed-In-Sol
Eisen
Electrolytic iron
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feronate
Ferretts
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
Ferrum metallicum
GS 6
HF 2 (element)
HL (iron)
HQ (metal)
HS (iron)
HS 4849
HSDB 604
Hemocyte
Hierro
Hoeganaes ATW 230
Hoeganaes EH
IRMM524A_FLUKA
IRMM524B_FLUKA
IRON
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron powder
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, carbonyl
Iron, electrolytic
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
Iron, reduced
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Reduced iron
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Vitedyn-Slo
Yieronia
fer
ferrous iron
hierro
3
Acetylcysteineapproved, investigationalPhase 2, Phase 3330616-91-112035
Synonyms:
(2R)-2-acetylamino-3-sulfanylpropanoic acid
(R)-2-acetylamino-3-mercaptopropanoic acid
(R)-mercapturic acid
2-Acetylamino-3-mercapto-propionate
2-Acetylamino-3-mercapto-propionic acid
ACC
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
Fluimucil
Flumucetin
Fluprowit
 
L-Acetylcysteine
L-acetylcysteine
L-α-acetamido-β-mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetyl-L-(+)-cysteine
N-acetyl-L-cysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
4
MetforminapprovedPhase 2, Phase 31803657-24-914219, 4091
Synonyms:
1,1-Dimethyl biguanide
1,1-Dimethylbiguanide
3-(diaminomethylidene)-1,1-dimethylguanidine
657-24-9
AC1L1HE4
AKOS000121065
Apo-Metformin
BIDD:GT0697
BPBio1_000009
BRD-K79602928-003-04-1
BSPBio_000007
BSPBio_002314
C07151
C4H11N5
CAS-1115-70-4
CCRIS 9321
CHEBI:6801
CHEMBL1431
CID4091
D04966
DB00331
DMGG
Diabetosan
Diabex
Dimethylbiguanid
Dimethylbiguanide
Dimethylbiguanidine
Dimethyldiguanide
Dimethylguanylguanidine
EINECS 211-517-8
Fluamine
Flumamine
Fortamet
Gen-Metformin
Glifage
Gliguanid
Glucophage
Glucophage XR
Glumetza
Glycon
HMS2089D19
HSCI1_000295
Haurymelin
Haurymellin
Islotin
KBio2_002310
KBio2_004878
KBio2_007446
KBio3_002790
KBioGR_002310
 
KBioSS_002312
LA-6023
LS-43899
Melbin
Metformin
Metformin (USAN/INN)
Metformin HCL
Metformin [USAN:INN:BAN]
Metformina
Metformina [DCIT]
Metformina [Spanish]
Metformine
Metformine [INN-French]
Metformine pamoate
Metforminum
Metforminum [INN-Latin]
Metiguanide
MolPort-002-929-560
MolPort-004-288-389
MolPort-005-767-418
Mylan-Metformin
N,N-Dimethylbiguanide
N,N-Dimethyldiguanide
N,N-Dimethylimidodicarbonimidic diamide
N,N-dimethylimidodicarbonimidic diamide
N1,N1-Dimethylbiguanide
NCGC00016564-01
NCGC00016564-02
NCGC00016564-03
NNDG
Novo-Metformin
Nu-Metformin
PMS-Metformin
Prestwick0_000004
Prestwick1_000004
Prestwick2_000004
Prestwick3_000004
Ran-Metformin
Ratio-Metformin
Riomet
S2483_Selleck
SPBio_001928
STK011633
Sandoz Metformin
Siofor
T5895664
Teva-Metformin
UNII-9100L32L2N
ZINC12859773
cMAP_000016
metformin
metformin hydrochloride
5HormonesPhase 2, Phase 314415
6Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 2, Phase 313168
7Hypoglycemic AgentsPhase 2, Phase 35896
8Hormone AntagonistsPhase 2, Phase 313180
9IncretinsPhase 2, Phase 31579
10N-monoacetylcystinePhase 2, Phase 3330
11AntidotesPhase 2, Phase 31071
12HIV Protease InhibitorsPhase 2, Phase 35470
13Protective AgentsPhase 2, Phase 37443
14Sitagliptin PhosphatePhase 2, Phase 3423
15Respiratory System AgentsPhase 2, Phase 34997
16Iron Chelating AgentsPhase 2, Phase 3226
17
protease inhibitorsPhase 2, Phase 35471
Synonyms:
 
protease inhibitors
18Dipeptidyl-Peptidase IV InhibitorsPhase 2, Phase 3862
19ExpectorantsPhase 2, Phase 3404
20Chelating AgentsPhase 2, Phase 31423
21Antiviral AgentsPhase 2, Phase 39967
22AntioxidantsPhase 2, Phase 33050
23Anti-Infective AgentsPhase 2, Phase 322062
24
DantroleneapprovedPhase 1, Phase 257261-97-42952, 6914273
Synonyms:
1-(((5-(4-Nitrophenyl)-2-furanyl)methylene)amino)-2,4-imidazolidinedione
1-((5-(p-Nitrophenyl)furfurylidene)amino)hydantoin
1-({(1E)-[5-(4-nitrophenyl)furan-2-yl]methylidene}amino)imidazolidine-2,4-dione
1-({[5-(4-nitrophenyl)furan-2-yl]methylidene}amino)imidazolidine-2,4-dione
1-[(E)-[5-(4-nitrophenyl)furan-2-yl]methylideneamino]imidazolidine-2,4-dione
7261-97-4
AC1OC9NE
BCBcMAP01_000067
BIDD:GT0187
BPBio1_000246
BRD-K81272440-001-02-6
BRD-K81272440-236-05-1
BRN 0705189
BSPBio_000222
BSPBio_001305
BSPBio_003074
C06939
C14H10N4O5
CHEBI:4317
CHEMBL1201288
CID6914273
D02347
DANTROLENE SODIUM
DB01219
Dantamacrin
Dantrium
Dantrium Intravenous
 
Dantrolene
Dantrolene (USAN/INN)
Dantrolene [USAN:BAN:INN]
Dantroleno
Dantroleno [INN-Spanish]
Dantrolenum
Dantrolenum [INN-Latin]
EINECS 230-684-8
F-368
HMS1361B07
HMS1791B07
HMS1989B07
HSDB 3050
IDI1_000898
IDI1_033775
LS-76264
Lopac0_000424
MolPort-006-389-324
NCGC00163132-01
NCGC00163402-01
NCGC00163402-02
Prestwick2_000291
Prestwick3_000291
Spectrum5_001752
UNII-F64QU97QCR
ZINC26894874
dantrolene
nchembio.368-comp3
25Peripheral Nervous System AgentsPhase 1, Phase 223689
26Neuromuscular AgentsPhase 1, Phase 21180
27
Exenatideapproved, investigational296141758-74-915991534
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
28Glucagon-Like Peptide 1715
29Insulin, Globin Zinc4645
30insulin4646

Interventional clinical trials:

idNameStatusNCT IDPhase
1Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone and Incretin Based TherapyNot yet recruitingNCT02882477Phase 2, Phase 3
2A Clinical Trial of Dantrolene Sodium in Pediatric and Adult Patients With Wolfram SyndromeRecruitingNCT02829268Phase 1, Phase 2
3GLP Analogs for Diabetes in Wolfram Syndrome PatientsUnknown statusNCT01302327
4Tracking Neurodegeneration in Early Wolfram SyndromeRecruitingNCT02455414
5Wolfram Syndrome International Registry and Clinical StudyRecruitingNCT02841553
6Registry Study on Patient Characteristics, Biological Disease Profile and Clinical Outcome in Acute Myeloid Leukemia and Related Neoplasms, and Higher Risk Myelodysplastic Syndrome - The Biology and Outcome (BiO)-ProjectRecruitingNCT01252485
7European Home Mechanical Ventilation RegistryTerminatedNCT02315339
8Adaptive 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 Diabetes Mellitus and Insipidus with Optic Atrophy and Deafness27
2 Wolfram Syndrome27 24 WFS1

Anatomical Context for Wolfram Syndrome

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MalaCards organs/tissues related to Wolfram Syndrome:

36
Eye, Brain, Pituitary, Pancreas, Kidney, Hypothalamus

Publications for Wolfram Syndrome

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Articles related to Wolfram Syndrome:

(show top 50)    (show all 245)
idTitleAuthorsYear
1
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions. (28475771)
2017
2
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions. (28335035)
2017
3
A novel heterozygous mutation of the WFS1 gene leading to constitutive endoplasmic reticulum stress is the cause of Wolfram syndrome. (28271591)
2017
4
Early-onset urological disorders due to Wolfram syndrome: A case of neonatal onset. (27212798)
2016
5
Wolfram Syndrome. Case report. (28132072)
2016
6
Be aware of Wolfram syndrome when examining ataxic patients. (27314960)
2016
7
Role of Mitochondrial Dynamics in Neuronal Development: Mechanism for Wolfram Syndrome. (27434582)
2016
8
Bipolar Disorder Type 1 in a 17-Year-Old Girl with Wolfram Syndrome. (27045389)
2016
9
Association of Wolfram syndrome with Fallot tetralogy in a girl. (27164349)
2016
10
Fatal Pulmonary Embolism Due to Inherited Thrombophilia Factors in a Child With Wolfram Syndrome. (27379531)
2016
11
Neuroimaging evidence of deficient axon myelination in Wolfram syndrome. (26888576)
2016
12
Clinical and molecular genetic analysis in three children with Wolfram Syndrome: a novel WFS1 mutation (c.2534T>A). (27468121)
2016
13
Identification of four novel mutations of the WFS1 gene in Iranian Wolfram syndrome pedigrees. (27412528)
2016
14
A novel nonsense mutation in the WFS1 gene causes the Wolfram syndrome. (26943604)
2016
15
Exenatide Is an Effective Antihyperglycaemic Agent in a Mouse Model of Wolfram Syndrome 1. (27069934)
2016
16
A new mutation in a patient with Wolfram syndrome. (27452625)
2016
17
Wolfram Syndrome: Diagnosis, Management, and Treatment. (26742931)
2016
18
Identification of a novel WFS1 homozygous nonsense mutation in Jordanian children with Wolfram syndrome. (27617222)
2016
19
c.376G>A mutation in WFS1 gene causes Wolfram syndrome without deafness. (26773575)
2016
20
GLP-1-RA corrects mitochondrial labile iron accumulation and improves I^-cell function in type 2 Wolfram syndrome. (27459537)
2016
21
Clinical utility gene card for: Wolfram syndrome. (27222289)
2016
22
A novel compound heterozygous mutation in an adolescent with insulin-dependent diabetes: The challenge of characterizing Wolfram syndrome. (27657458)
2016
23
Identification of unsuspected Wolfram syndrome cases through clinical assessment and WFS1 gene screening in type 1 diabetes mellitus patients. (25895475)
2015
24
Wolfram syndrome: clinical features, molecular genetics of WFS1 gene]. (25764693)
2015
25
RETRACTION: Wolfram syndrome 1 and adenylyl cyclase 8 interact at the plasma membrane to regulate insulin production and secretion. (25679031)
2015
26
Deletion of the Wolfram syndrome-related gene Wfs1 results in increased sensitivity to ethanol in female mice. (25725334)
2015
27
Selective cognitive and psychiatric manifestations in Wolfram Syndrome. (26025012)
2015
28
Clinical variability in hereditary optic neuropathies: Two novel mutations in two patients with dominant optic atrophy and Wolfram syndrome. (26586986)
2015
29
A Challenging Form of Non-autoimmune Insulin-Dependent Diabetes in a Wolfram Syndrome Patient with a Novel Sequence Variant. (26819810)
2015
30
Glycemic variability in patients with Wolfram syndrome is lower than in type 1 diabetes. (25916214)
2015
31
Early-onset central diabetes insipidus is associated with de novo arginine vasopressin-neurophysin II or Wolfram syndrome 1 gene mutations. (25740874)
2015
32
Association of optic atrophy and type 1 diabetes: clinical hallmarks for the diagnosis of Wolfram syndrome. (26017216)
2015
33
Maternal uniparental disomy of chromosomeA 4 and homozygous novel mutation in the WFS1 gene in a paediatric patient with Wolfram syndrome. (26169481)
2015
34
Retinal thinning as a marker of disease progression in patients with Wolfram syndrome. (25715420)
2015
35
Three cases of Wolfram syndrome with different clinical aspects. (25210753)
2014
36
A calcium-dependent protease as a potential therapeutic target for Wolfram syndrome. (25422446)
2014
37
Significant expressivity of Wolfram syndrome: phenotypic assessment of two known and one novel mutation in the WFS1 gene in three Iranian families. (25173644)
2014
38
False diagnosis of type 1 diabetes mellitus and its complications in Wolfram syndrome - is it the reason for the low number of reported cases of this abnormality? (25301491)
2014
39
Central nervous system PET-CT imaging reveals regional impairments in pediatric patients with Wolfram syndrome. (25542043)
2014
40
Wolfram syndrome iPS cells: the first human cell model of endoplasmic reticulum disease. (24556864)
2014
41
Sarco(endo)plasmic reticulum ATPase is a molecular partner of Wolfram syndrome 1 protein, which negatively regulates its expression. (25274773)
2014
42
Wolfram syndrome 2: a novel CISD2 mutation identified in Italian siblings. (25371195)
2014
43
A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2. (25056293)
2014
44
Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features. (25211237)
2014
45
Delayed recognition of Wolfram syndrome frequently misdiagnosed as type 1 diabetes with early chronic complications. (24464595)
2014
46
Management of bladder dysfunction in Wolfram syndrome with Mitrofanoff appendicovesicostomy: long-term follow-up. (25783330)
2014
47
Phenotypical and genotypical expression of Wolfram syndrome in 12 patients from a Sicilian district where this syndrome might not be so infrequent as generally expected. (24497219)
2014
48
Ophthalmologic correlates of disease severity in children and adolescents with Wolfram syndrome. (25439303)
2014
49
The prevalence of Wolfram syndrome in a paediatric population with diabetes. (25185852)
2014
50
Molecular characterization of WFS1 in an Iranian family with Wolfram syndrome reveals a novel frameshift mutation associated with early symptoms. (23845777)
2013

Variations for Wolfram Syndrome

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

70 (show all 22)
id Symbol AA change Variation ID SNP ID
1WFS1p.Pro504LeuVAR_005842rs28937892
2WFS1p.Gly695ValVAR_005844rs28937891
3WFS1p.Pro724LeuVAR_005845rs28937890
4WFS1p.Glu169LysVAR_009109rs148953711
5WFS1p.Pro292SerVAR_009110rs746923441
6WFS1p.Ile296SerVAR_009111
7WFS1p.Gly437ArgVAR_009114rs147974629
8WFS1p.Cys690ArgVAR_009116rs754373473
9WFS1p.Trp700CysVAR_009117
10WFS1p.Gly736SerVAR_009118rs71532864
11WFS1p.Pro885LeuVAR_009119rs372855769
12WFS1p.Ala58ValVAR_011305rs369671890
13WFS1p.Ala126ThrVAR_011306rs145639028
14WFS1p.Ser443IleVAR_011308
15WFS1p.Gly780ArgVAR_011313
16WFS1p.Arg818CysVAR_011314rs35932623
17WFS1p.Ala133ThrVAR_014034rs372249044
18WFS1p.Tyr669CysVAR_014038
19WFS1p.Tyr110AsnVAR_029499
20WFS1p.Arg457SerVAR_029502rs113446173
21WFS1p.Arg629TrpVAR_029505rs71530910
22WFS1p.Arg558CysVAR_068343rs199946797

Clinvar genetic disease variations for Wolfram Syndrome:

5 (show all 24)
id Gene Variation Type Significance SNP ID Assembly Location
1WFS1NM_ 006005.3(WFS1): c.1441_ 1447dupCTGAAGG (p.Val483Alafs)duplicationPathogenicrs727503745GRCh37Chr 4, 6302963: 6302969
2WFS1NM_ 006005.3(WFS1): c.124C> T (p.Arg42Ter)SNVPathogenicrs71530923GRCh37Chr 4, 6279306: 6279306
3WFS1NM_ 006005.3(WFS1): c.2263T> C (p.Cys755Arg)SNVLikely pathogenicrs797045075GRCh37Chr 4, 6303785: 6303785
4WFS1NM_ 006005.3(WFS1): c.2648_ 2651delTCTT (p.Phe883Serfs)deletionPathogenicrs797045076GRCh37Chr 4, 6304170: 6304173
5WFS1NM_ 006005.3(WFS1): c.1060_ 1062delTTC (p.Phe354del)deletionPathogenicrs876657735GRCh38Chr 4, 6300855: 6300857
6WFS1NM_ 006005.3(WFS1): c.2119G> T (p.Val707Phe)SNVPathogenicrs71524377GRCh37Chr 4, 6303641: 6303641
7WFS1WFS1, 8-BP DEL, NT2106deletionPathogenic
8WFS1NM_ 006005.3(WFS1): c.2051C> T (p.Ala684Val)SNVPathogenicrs387906930GRCh37Chr 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)SNVPathogenicrs28937890GRCh37Chr 4, 6303693: 6303693
14WFS1NM_ 006005.3(WFS1): c.2084G> T (p.Gly695Val)SNVPathogenicrs28937891GRCh37Chr 4, 6303606: 6303606
15WFS1NM_ 006005.3(WFS1): c.1944G> A (p.Trp648Ter)SNVPathogenicrs104893879GRCh37Chr 4, 6303466: 6303466
16WFS1NM_ 006005.3(WFS1): c.1511C> T (p.Pro504Leu)SNVPathogenicrs28937892GRCh37Chr 4, 6303033: 6303033
17WFS1WFS1, 7-BP INS, NT1610insertionPathogenic
18WFS1WFS1, 9-BP DEL, NT1380deletionPathogenic
19WFS1WFS1, 460, G-A, +1SNVPathogenic
20WFS1NM_ 006005.3(WFS1): c.676C> T (p.Gln226Ter)SNVPathogenicrs104893880GRCh37Chr 4, 6293688: 6293688
21WFS1NM_ 006005.3(WFS1): c.2455C> T (p.Gln819Ter)SNVPathogenicrs104893881GRCh37Chr 4, 6303977: 6303977
22WFS1NM_ 006005.3(WFS1): c.409_ 424dup16 (p.Val142Glyfs)duplicationPathogenicrs587776598GRCh37Chr 4, 6290807: 6290822
23WFS1NM_ 006005.3(WFS1): c.2146G> A (p.Ala716Thr)SNVPathogenic/ Likely pathogenicrs28937893GRCh37Chr 4, 6303668: 6303668
24WFS1WFS1, 16-BP DEL, NT1362deletionPathogenic

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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Pathways related to Wolfram Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.9ATF6, HSPA5
29.7ATF6, HSPA5, WFS1
39.4ADCY8, AVP, DRD5
49.4AVP, COMT, PCSK2, WFS1
59.3ATF6, CISD1, CISD2, WFS1

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
1integral component of endoplasmic reticulum membraneGO:003017610.5ATF6, HSPA5, WFS1
2dendriteGO:003042510.2AVP, COMT, PCSK2, WFS1
3mitochondrial outer membraneGO:00057419.8CISD1, CISD2, GIMAP5, TOMM40
4secretory granuleGO:00301419.4AVP, PCSK2, SCG5
5mitochondrionGO:00057398.2CISD1, CISD2, COMT, GIMAP5, HSPA5, SMURF1
6membraneGO:00160205.8ADCY8, ATF6, BAMBI, CISD1, CISD2, COMT

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1ER overload responseGO:000698310.6HSPA5, WFS1
2ATF6-mediated unfolded protein responseGO:003650010.5ATF6, HSPA5
3positive regulation of adenylate cyclase activityGO:004576210.4DRD5, WFS1
4positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stressGO:199044010.3ATF6, HSPA5
5endoplasmic reticulum unfolded protein responseGO:003096810.3ATF6, HSPA5, WFS1
6peptide hormone processingGO:001648610.1PCSK2, SCG5
7negative regulation of transforming growth factor beta receptor signaling pathwayGO:00305129.7BAMBI, HSPA5, SMURF1
8renal water homeostasisGO:00030919.5ADCY8, AVP, WFS1

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

idNameGO IDScoreTop Affiliating Genes
12 iron, 2 sulfur cluster bindingGO:00515379.9CISD1, CISD2

Sources for Wolfram Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet