MCID: WLF004
MIFTS: 61

Wolfram Syndrome malady

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

Aliases & Classifications for Wolfram Syndrome

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Wolfram Syndrome:

Name: Wolfram Syndrome 51 11 47 24 25 53 26 12 49 38 13 67
Waterhouse-Friderichsen Syndrome 11 47 53 38 13 67
Didmoad 11 47 24 25 69
Didmoad Syndrome 47 25 53
Wfs 11 47 69
Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness 47 25
Diabetes Mellitus and Insipidus with Optic Atrophy and Deafness 11 26
Fatal Pneumococcal Waterhouse-Friderichsen Syndrome 47 67
 
Wolfram Syndrome 1 11 69
Wfs1 11 69
Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness Syndrome 69
Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome 53
Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness 25
Waterhouse-Friderichsen Syndrome, Meningococcal 67
Meningococcal Hemorrhagic Adrenalitis 11
Didmoadud 25

Characteristics:

Orphanet epidemiological data:

53
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:

63
wolfram syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 222300
Disease Ontology11 DOID:0110629, DOID:10632, DOID:9931
ICD1029 E13.8, A39.1
UMLS via Orphanet68 C0043207, C0043068
MESH via Orphanet39 D014929, D014884
ICD10 via Orphanet30 A39.1+, E35.1*
MedGen36 C0043207

Summaries for Wolfram Syndrome

About this section
OMIM:51 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 waterhouse-friderichsen syndrome, is related to wolfram syndrome 2 and wolfram syndrome-like disease, and has symptoms including hearing impairment, optic atrophy and diabetes mellitus. An important gene associated with Wolfram Syndrome is WFS1 (Wolframin ER Transmembrane Glycoprotein), and among its related pathways is Neuroscience. Affiliated tissues include eye, brain and pituitary, and related mouse phenotypes are renal/urinary system and endocrine/exocrine gland.

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:47 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:69 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:70 Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and... more...

Related Diseases for Wolfram Syndrome

About this section

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 all 49)
idRelated DiseaseScoreTop Affiliating Genes
1wolfram syndrome 212.3
2wolfram syndrome-like disease11.8
3acute adrenal insufficiency11.6
4wolfram-like syndrome, autosomal dominant10.8
5diabetes and deafness, maternally inherited10.8
6meningitis10.5
7meningococcemia10.5
8influenza10.4
9haemophilus influenzae10.4
10purpura10.3
11meningococcal meningitis10.3
12meningococcal infection10.3
13bacteremia10.2
14disseminated intravascular coagulation10.2
15pneumonia10.2
16diabetes insipidus10.1
17blepharitis10.1AVP, CISD2, WFS1
18mannosidosis, beta10.1CISD2, TOMM40, WFS1
19segmental dystonia10.0DRD5, HLA-DRB1
20kindler syndrome10.0AVP, WFS1
21neuropathy10.0
22purpura fulminans10.0
23diarrhea10.0
24cholera10.0
25pericarditis10.0
26fasciitis10.0
27necrotizing fasciitis10.0
28sickle cell disease10.0
29chronic canaliculitis10.0CISD2, GIMAP5, WFS1
30sensorineural hearing loss10.0
31oculogyric crisis10.0DRD5, HLA-DRB1
323-m syndrome 39.9BAMBI, RECK, WFS1
33cataract9.8
34retinitis9.8
35neuronitis9.8
36mitochondrial disorders9.8
37coronary artery disease9.7
38bipolar disorder9.7
39brachydactyly9.7
40artery disease9.7
41hypogonadism9.7
42bardet-biedl syndrome9.7
43thrombophilia9.7
44mood disorder9.7
45pancreatitis9.7
46pulmonary embolism9.7
47organic mood syndrome9.7
48cardiomyopathy9.7
49deafness, autosomal dominant 6/14/387.1ATF6, AVP, BAMBI, CISD2, COMT, DRD5

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:

222300

Human phenotypes related to Wolfram Syndrome:

 63 53 (show all 74)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment63 hallmark (90%) HP:0000365
2 optic atrophy63 53 hallmark (90%) Very frequent (99-80%) HP:0000648
3 diabetes mellitus63 53 hallmark (90%) Very frequent (99-80%) HP:0000819
4 diabetes insipidus63 53 hallmark (90%) Very frequent (99-80%) HP:0000873
5 recurrent urinary tract infections63 53 typical (50%) Frequent (79-30%) HP:0000010
6 nephropathy63 53 typical (50%) Frequent (79-30%) HP:0000112
7 visual impairment63 typical (50%) HP:0000505
8 nystagmus63 53 typical (50%) Frequent (79-30%) HP:0000639
9 seizures63 53 typical (50%) Frequent (79-30%) HP:0001250
10 hypoglycemia63 typical (50%) HP:0001943
11 neurological speech impairment63 typical (50%) HP:0002167
12 incoordination63 typical (50%) HP:0002311
13 abnormality of the genital system63 occasional (7.5%) HP:0000078
14 renal insufficiency63 occasional (7.5%) HP:0000083
15 retinopathy63 occasional (7.5%) HP:0000488
16 glaucoma63 53 occasional (7.5%) Occasional (29-5%) HP:0000501
17 cataract63 occasional (7.5%) HP:0000518
18 ophthalmoparesis63 occasional (7.5%) HP:0000597
19 hallucinations63 53 occasional (7.5%) Occasional (29-5%) HP:0000738
20 hypothyroidism63 occasional (7.5%) HP:0000821
21 limitation of joint mobility63 occasional (7.5%) HP:0001376
22 congestive heart failure63 occasional (7.5%) HP:0001635
23 hypertrophic cardiomyopathy63 occasional (7.5%) HP:0001639
24 anemia63 53 occasional (7.5%) Occasional (29-5%) HP:0001903
25 constipation63 53 occasional (7.5%) Occasional (29-5%) HP:0002019
26 malabsorption63 53 occasional (7.5%) Occasional (29-5%) HP:0002024
27 respiratory insufficiency63 53 occasional (7.5%) Occasional (29-5%) HP:0002093
28 apnea63 occasional (7.5%) HP:0002104
29 cerebral cortical atrophy63 53 occasional (7.5%) Occasional (29-5%) HP:0002120
30 recurrent respiratory infections63 occasional (7.5%) HP:0002205
31 gastrointestinal hemorrhage63 53 occasional (7.5%) Occasional (29-5%) HP:0002239
32 abnormality of the autonomic nervous system63 occasional (7.5%) HP:0002270
33 sleep disturbance63 53 occasional (7.5%) Occasional (29-5%) HP:0002360
34 developmental regression63 53 occasional (7.5%) Occasional (29-5%) HP:0002376
35 myopathy63 53 occasional (7.5%) Occasional (29-5%) HP:0003198
36 abnormality of the gastric mucosa63 occasional (7.5%) HP:0004295
37 reduced consciousness/confusion63 occasional (7.5%) HP:0004372
38 feeding difficulties in infancy63 53 occasional (7.5%) Frequent (79-30%) HP:0008872
39 peripheral neuropathy63 53 occasional (7.5%) Occasional (29-5%) HP:0009830
40 cognitive impairment63 occasional (7.5%) HP:0100543
41 neurogenic bladder63 HP:0000011
42 testicular atrophy63 HP:0000029
43 hydroureter63 HP:0000072
44 hydronephrosis63 HP:0000126
45 sensorineural hearing impairment63 53 Very frequent (99-80%) HP:0000407
46 ptosis63 HP:0000508
47 pigmentary retinopathy63 HP:0000580
48 behavioral abnormality63 53 Occasional (29-5%) HP:0000708
49 intellectual disability63 53 Occasional (29-5%) HP:0001249
50 ataxia63 53 Frequent (79-30%) HP:0001251
51 dysarthria63 53 Frequent (79-30%) HP:0001260
52 tremor63 HP:0001337
53 growth delay63 HP:0001510
54 cardiomyopathy63 53 Occasional (29-5%) HP:0001638
55 thrombocytopenia63 HP:0001873
56 megaloblastic anemia63 HP:0001889
57 sideroblastic anemia63 HP:0001924
58 dysphagia63 HP:0002015
59 cerebral atrophy63 HP:0002059
60 stroke-like episodes63 HP:0002401
61 limited mobility of proximal interphalangeal joint63 HP:0006217
62 male hypogonadism53 Occasional (29-5%)
63 abnormality of the urinary system53 Frequent (79-30%)
64 hypogonadism53 Occasional (29-5%)
65 ophthalmoplegia53 Occasional (29-5%)
66 dementia53 Occasional (29-5%)
67 delayed puberty53 Occasional (29-5%)
68 joint stiffness53 Occasional (29-5%)
69 polydipsia53 Very frequent (99-80%)
70 dysautonomia53 Occasional (29-5%)
71 gastric ulcer53 Occasional (29-5%)
72 central apnea53 Occasional (29-5%)
73 abnormality of the mesentery53 Frequent (79-30%)
74 dysuria53 Frequent (79-30%)

UMLS symptoms related to Wolfram Syndrome:


ataxia, seizures, tremor, dizziness, syncope, presyncope

Drugs & Therapeutics for Wolfram Syndrome

About this section

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 311237439-89-623925
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
AcetylcysteineapprovedPhase 2, Phase 3316616-91-112035
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-alpha-acetamido-beta-Mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-ACETYL-L-cysteine
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
4
MetforminapprovedPhase 2, Phase 31746657-24-914219, 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 313979
6Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 2, Phase 312767
7Hypoglycemic AgentsPhase 2, Phase 35733
8Hormone AntagonistsPhase 2, Phase 312778
9IncretinsPhase 2, Phase 31537
10N-monoacetylcystinePhase 2, Phase 3316
11AntidotesPhase 2, Phase 31038
12HIV Protease InhibitorsPhase 2, Phase 35319
13Protective AgentsPhase 2, Phase 37190
14Sitagliptin PhosphatePhase 2, Phase 3416
15Respiratory System AgentsPhase 2, Phase 34818
16Iron Chelating AgentsPhase 2, Phase 3222
17
protease inhibitorsPhase 2, Phase 35320
Synonyms:
 
protease inhibitors
18Dipeptidyl-Peptidase IV InhibitorsPhase 2, Phase 3846
19ExpectorantsPhase 2, Phase 3388
20Chelating AgentsPhase 2, Phase 31365
21Antiviral AgentsPhase 2, Phase 39732
22AntioxidantsPhase 2, Phase 32928
23Anti-Infective AgentsPhase 2, Phase 321402
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 222776
26Neuromuscular AgentsPhase 1, Phase 21129
27
Exenatideapproved, investigational289141758-74-915991534
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 1694
29Insulin, Globin Zinc4523
30insulin4524

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: waterhouse-friderichsen 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 Deafness26
2 Wolfram Syndrome26 24 WFS1

Anatomical Context for Wolfram Syndrome

About this section

MalaCards organs/tissues related to Wolfram Syndrome:

35
Eye, Brain, Pituitary, Myeloid, Heart, Pancreas, Kidney

Animal Models for Wolfram Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Wolfram Syndrome:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.7AVP, CISD2, COMT, DRD5, EFEMP1, HSPA5
2MP:00053798.3ATF6, CISD2, COMT, DRD5, EFEMP1, PCSK2
3MP:00107718.3BAMBI, CISD2, EFEMP1, HSPA5, PCSK2, RECK
4MP:00053858.0CISD2, COMT, DRD5, EFEMP1, HSPA5, PCSK2
5MP:00107687.0ATF6, AVP, CISD2, DRD5, EFEMP1, HSPA5

Publications for Wolfram Syndrome

About this section

Articles related to Wolfram Syndrome:

(show top 50)    (show all 241)
idTitleAuthorsYear
1
Association of Wolfram syndrome with Fallot tetralogy in a girl. (27164349)
2016
2
RETRACTION: Wolfram syndrome 1 and adenylyl cyclase 8 interact at the plasma membrane to regulate insulin production and secretion. (25679031)
2015
3
Association of optic atrophy and type 1 diabetes: clinical hallmarks for the diagnosis of Wolfram syndrome. (26017216)
2015
4
Deletion of the Wolfram syndrome-related gene Wfs1 results in increased sensitivity to ethanol in female mice. (25725334)
2015
5
A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2. (25056293)
2014
6
Central nervous system PET-CT imaging reveals regional impairments in pediatric patients with Wolfram syndrome. (25542043)
2014
7
Management of bladder dysfunction in Wolfram syndrome with Mitrofanoff appendicovesicostomy: long-term follow-up. (25783330)
2014
8
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
9
Vacuolar-type H+-ATPase V1A subunit is a molecular partner of Wolfram syndrome 1 (WFS1) protein, which regulates its expression and stability. (23035048)
2013
10
Expansion of the clinical ocular spectrum of Wolfram Syndrome in a family carrying a novel WFS1 gene deletion. (23373429)
2013
11
Molecular characterization of WFS1 in an Iranian family with Wolfram syndrome reveals a novel frameshift mutation associated with early symptoms. (23845777)
2013
12
Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype. (23429432)
2013
13
A new structural rearrangement associated to Wolfram syndrome in a child with a partial phenotype. (22771918)
2012
14
Early brain vulnerability in Wolfram syndrome. (22792385)
2012
15
Neuropathy in Wolfram syndrome. (20888932)
2011
16
A case of wolfram syndrome. (22737327)
2010
17
Wolfram syndrome: important implications for pediatricians and pediatric endocrinologists. (20015125)
2010
18
Wolfram syndrome 1 (Wfs1) mRNA expression in the normal mouse brain during postnatal development. (19428703)
2009
19
Wolfram syndrome. Clinical and genetic study in two families]. (18194629)
2008
20
Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome. (17568405)
2007
21
The characterisation of the human Wolfram syndrome gene promoter demonstrating regulation by Sp1 and Sp3 transcription factors. (16965966)
2006
22
Wolfram syndrome: from definition to molecular bases]. (17160206)
2006
23
Wolfram syndrome 1 (WFS1) protein expression in retinal ganglion cells and optic nerve glia of the cynomolgus monkey. (16928372)
2006
24
A new mutation in WFS1 gene (C.1522-1523delTA, Y508fsX421) may be responsible for early appearance of clinical features of Wolfram syndrome and suicidal behaviour. (17187023)
2006
25
Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified. (16151413)
2005
26
Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with Wolfram syndrome. (16005363)
2005
27
Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene. (15605410)
2005
28
A novel mutation of WFS1 gene in Chinese patients with Wolfram syndrome]. (16321270)
2005
29
Genetic diagnosis of diabetes mellitus: Wolfram syndrome--from positional cloning to DNA diagnosis]. (12884741)
2003
30
Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay. (12754709)
2003
31
Mutations in the Wolfram syndrome type 1 gene (WFS1) define a clinical entity of dominant low-frequency sensorineural hearing loss. (12707187)
2003
32
Wolfram syndrome: identification of a phenotypic and genotypic variant from Jordan. (12116178)
2002
33
Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees. (11161832)
2001
34
Identification of novel WFS1 mutations in Italian children with Wolfram syndrome. (11295831)
2001
35
Mutation screening of the Wolfram syndrome gene in psychiatric patients. (11244483)
2001
36
Mutational analysis of the Wolfram syndrome gene in two families with chromosome 4p-linked bipolar affective disorder. (10893488)
2000
37
Missense variations of the gene responsible for Wolfram syndrome (WFS1/wolframin) in Japanese: possible contribution of the Arg456His mutation to type 1 diabetes as a nonautoimmune genetic basis. (10679252)
2000
38
Urological manifestations of the Wolfram syndrome: observations in 14 patients. (9915470)
1999
39
Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1. (10521293)
1999
40
Psychiatric disorders in Wolfram syndrome heterozygotes. (9491807)
1998
41
The vasopressin precursor is not processed in the hypothalamus of Wolfram syndrome patients with diabetes insipidus: evidence for the involvement of PC2 and 7B2. (9814487)
1998
42
Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion. (8651280)
1996
43
Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity. (8808601)
1996
44
A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome. (8601620)
1996
45
Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD). (8071960)
1994
46
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300). (8383698)
1993
47
Successful pregnancy in two sisters with Wolfram syndrome. (8444596)
1993
48
Linkage between the genes for Wolfram syndrome and brachydactyly E. (3993691)
1985
49
Wolfram syndrome and HLA. (7366689)
1980
50
Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder, and other abnormalities (Wolfram syndrome). A review of 88 cases from the literature with personal observations on 3 new patients. (270276)
1977

Variations for Wolfram Syndrome

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

69 (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 25)
id Gene Variation Type Significance SNP ID Assembly Location
1WFS1NM_006005.3(WFS1): c.1441_1447dupCTGAAGG (p.Val483Alafs)duplicationPathogenicrs727503745GRCh38Chr 4, 6301236: 6301242
2WFS1NM_006005.3(WFS1): c.124C> T (p.Arg42Ter)SNVPathogenicrs71530923GRCh37Chr 4, 6279306: 6279306
3WFS1NM_006005.3(WFS1): c.1672C> T (p.Arg558Cys)SNVLikely pathogenicrs199946797GRCh37Chr 4, 6303194: 6303194
4WFS1NM_006005.3(WFS1): c.2263T> C (p.Cys755Arg)SNVLikely pathogenicrs797045075GRCh37Chr 4, 6303785: 6303785
5WFS1NM_006005.3(WFS1): c.2648_2651delTCTT (p.Phe883Serfs)deletionPathogenicrs797045076GRCh37Chr 4, 6304170: 6304173
6WFS1NM_006005.3(WFS1): c.1060_1062delTTC (p.Phe354del)deletionPathogenicrs876657735GRCh38Chr 4, 6300855: 6300857
7WFS1NM_006005.3(WFS1): c.2119G> T (p.Val707Phe)SNVPathogenicrs71524377GRCh37Chr 4, 6303641: 6303641
8WFS1WFS1, 8-BP DEL, NT2106deletionPathogenicChr na, -1: -1
9WFS1NM_006005.3(WFS1): c.2051C> T (p.Ala684Val)SNVPathogenicrs387906930GRCh37Chr 4, 6303573: 6303573
10WFS1WFS1, 3-BP DEL, VAL415DELdeletionPathogenicChr na, -1: -1
11WFS1WFS1, 4-BP DEL, 1387CTCTdeletionPathogenicChr na, -1: -1
12WFS1WFS1, 2-BP DEL, 2812TCdeletionPathogenicChr na, -1: -1
13WFS1WFS1, 15-BP DEL, NT1685deletionPathogenicChr na, -1: -1
14WFS1NM_006005.3(WFS1): c.2171C> T (p.Pro724Leu)SNVPathogenicrs28937890GRCh37Chr 4, 6303693: 6303693
15WFS1NM_006005.3(WFS1): c.2084G> T (p.Gly695Val)SNVPathogenicrs28937891GRCh37Chr 4, 6303606: 6303606
16WFS1NM_006005.3(WFS1): c.1944G> A (p.Trp648Ter)SNVPathogenicrs104893879GRCh37Chr 4, 6303466: 6303466
17WFS1NM_006005.3(WFS1): c.1511C> T (p.Pro504Leu)SNVPathogenicrs28937892GRCh37Chr 4, 6303033: 6303033
18WFS1WFS1, 7-BP INS, NT1610insertionPathogenicChr na, -1: -1
19WFS1WFS1, 9-BP DEL, NT1380deletionPathogenicChr na, -1: -1
20WFS1WFS1, 460, G-A, +1SNVPathogenicChr na, -1: -1
21WFS1NM_006005.3(WFS1): c.676C> T (p.Gln226Ter)SNVPathogenicrs104893880GRCh37Chr 4, 6293688: 6293688
22WFS1NM_006005.3(WFS1): c.2455C> T (p.Gln819Ter)SNVPathogenicrs104893881GRCh37Chr 4, 6303977: 6303977
23WFS1NM_006005.3(WFS1): c.409_424dup16 (p.Val142Glyfs)duplicationPathogenicrs587776598GRCh37Chr 4, 6290807: 6290822
24WFS1NM_006005.3(WFS1): c.2146G> A (p.Ala716Thr)SNVLikely pathogenic, Pathogenicrs28937893GRCh37Chr 4, 6303668: 6303668
25WFS1WFS1, 16-BP DEL, NT1362deletionPathogenicChr na, -1: -1

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
19.3AVP, COMT, PCSK2, 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
1mitochondrial outer membraneGO:00057419.7CISD2, GIMAP5, TOMM40
2integral component of endoplasmic reticulum membraneGO:00301769.6ATF6, HSPA5, WFS1
3secretory granuleGO:00301419.5AVP, PCSK2, SCG5
4dendriteGO:00304259.3AVP, COMT, PCSK2, WFS1

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1renal water homeostasisGO:000309110.3AVP, WFS1
2ER overload responseGO:000698310.2HSPA5, WFS1
3ATF6-mediated unfolded protein responseGO:003650010.0ATF6, HSPA5
4positive regulation of adenylate cyclase activityGO:004576210.0DRD5, WFS1
5positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stressGO:19904409.9ATF6, HSPA5
6peptide hormone processingGO:00164869.8PCSK2, SCG5
7endoplasmic reticulum unfolded protein responseGO:00309689.7ATF6, HSPA5, WFS1
8negative regulation of transforming growth factor beta receptor signaling pathwayGO:00305129.5BAMBI, HSPA5, SMURF1
9visual perceptionGO:00076019.3ATF6, EFEMP1, WFS1

Sources for Wolfram Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet