MCID: WLF004
MIFTS: 62

Wolfram Syndrome 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 50 11 46 23 24 13 52 25 12 48 37 66
Didmoad 11 46 23 24 68
Didmoad Syndrome 46 24 52
Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness 46 24
Diabetes Mellitus and Insipidus with Optic Atrophy and Deafness 11 25
Wfs 46 68
 
Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness Syndrome 68
Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome 52
Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness 24
Wolfram Syndrome 1 68
Didmoadud 24
Wfs1 68

Characteristics:

Orphanet epidemiological data:

52
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:

62
wolfram syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 222300
Disease Ontology11 DOID:10632
MeSH37 D014929
NCIt43 C35133
SNOMED-CT60 70694009
Orphanet52 ORPHA3463
MESH via Orphanet38 D014929
UMLS via Orphanet67 C0043207
MedGen35 C0043207

Summaries for Wolfram Syndrome

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OMIM:50 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 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 are Biogenic Amine Synthesis and Dopamine metabolism. Affiliated tissues include eye, brain and pituitary, and related mouse phenotypes are renal/urinary system and normal.

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:24 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:46 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:68 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:69 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 for Wolfram Syndrome

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Symptoms by clinical synopsis from OMIM:

222300

Clinical features from OMIM:

222300

Symptoms:

 52 (show all 39)
  • recurrent urinary tract infections
  • male hypogonadism
  • abnormality of the urinary system
  • nephropathy
  • hypogonadism
  • sensorineural hearing impairment
  • glaucoma
  • ophthalmoplegia
  • nystagmus
  • optic atrophy
  • behavioral abnormality
  • dementia
  • hallucinations
  • diabetes mellitus
  • delayed puberty
  • diabetes insipidus
  • intellectual disability
  • seizures
  • ataxia
  • dysarthria
  • joint stiffness
  • cardiomyopathy
  • anemia
  • polydipsia
  • constipation
  • malabsorption
  • respiratory insufficiency
  • cerebral cortical atrophy
  • gastrointestinal hemorrhage
  • sleep disturbance
  • developmental regression
  • dysautonomia
  • gastric ulcer
  • central apnea
  • myopathy
  • feeding difficulties in infancy
  • peripheral neuropathy
  • abnormality of the mesentery
  • dysuria

HPO human phenotypes related to Wolfram Syndrome:

(show all 67)
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 neurogenic bladder HP:0000011
42 testicular atrophy HP:0000029
43 hydroureter HP:0000072
44 hydronephrosis HP:0000126
45 sensorineural hearing impairment HP:0000407
46 ptosis HP:0000508
47 pigmentary retinopathy HP:0000580
48 nystagmus HP:0000639
49 optic atrophy HP:0000648
50 behavioral abnormality HP:0000708
51 diabetes mellitus HP:0000819
52 hypothyroidism HP:0000821
53 diabetes insipidus HP:0000873
54 intellectual disability HP:0001249
55 seizures HP:0001250
56 ataxia HP:0001251
57 dysarthria HP:0001260
58 tremor HP:0001337
59 growth delay HP:0001510
60 cardiomyopathy HP:0001638
61 thrombocytopenia HP:0001873
62 megaloblastic anemia HP:0001889
63 sideroblastic anemia HP:0001924
64 dysphagia HP:0002015
65 cerebral atrophy HP:0002059
66 stroke-like episodes HP:0002401
67 limited mobility of proximal interphalangeal joint HP:0006217

UMLS symptoms related to Wolfram Syndrome:


ataxia, seizures, tremor

Drugs & Therapeutics for Wolfram Syndrome

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

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AcetylcysteinePhase 2, Phase 3304616-91-112035
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
2
protease inhibitorsPhase 2, Phase 35157
Synonyms:
 
protease inhibitors
3
MetforminPhase 2, Phase 31701657-24-914219, 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
4
DeferipronePhase 2, Phase 35630652-11-02972
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
5
IronPhase 2, Phase 310807439-89-623925
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
6
MitoxantronePhase 226465271-80-94212
Synonyms:
1,4-Bis(2-(2-hydroxyethylamino)ethyl)amino)-5,8-dihydroxyanthraquinone
1,4-DIHYDROXY-5,8-BIS({2-[(2-HYDROXYETHYL)AMINO]ETHYL}AMINO)-9,10-ANTHRACENEDIONE
1,4-DIHYDROXY-5,8-bis({2-[(2-hydroxyethyl)amino]ethyl}amino)-9,10-anthracenedione
1,4-Dihydroxy-5,8-bis(2-((2-hydroxyethyl)amino)ethylamino)-9,10-anthracenedione
1,4-Dihydroxy-5,8-bis(5-hydroxy-3-azapentylamino)anthrachinon
1,4-Dihydroxy-5,8-bis[2-(2-hydroxyethylamino)ethylamino]anthracene-9,10-dione
1,4-Dihydroxy-5,8-bis[[2-[(2-hydroxyethyl)amino]ethyl]amino]-9,10-anthracenedione
1,4-dihydroxy-5,8-bis({2-[(2-hydroxyethyl)amino]ethyl}amino)anthra-9,10-quinone
1,4-dihydroxy-5,8-bis({2-[(2-hydroxyethyl)amino]ethyl}amino)anthracene-9,10-dione
137635-96-2
2fum
5,8-Bis((2-((2-hydroxyethyl)amino)ethyl)amino)-1,4-dihydroxyanthraquinone
65271-80-9
70476-82-3
70476-82-3 (hydrochloride)
70711-41-0
70711-41-0 (acetate)
70945-62-9
9,10-Anthracenedione, 1,4-dihydroxy-5,8-bis((2-((2-hydroxyethyl)amino)ethyl)amino)- (9CI)
AB00053716
AC1L1HNY
AN-584/42007670
BIDD:PXR0181
BPBio1_000627
BRD-K21680192-300-05-2
BRD-K21680192-300-07-8
BRN 2795126
BSPBio_000569
BSPBio_003160
C11195
C22H28N4O6
CAS-70476-82-3
CCRIS 7604
CHEBI:50729
CHEMBL58
CID4212
D08224
DB01204
DHAD
DHAQ
DHAQ (*Diacetate salt*)
DHAQ HCl
Dihydroxyanthraquinone
DivK1c_000516
HMS2090D05
IDI1_000516
KBio1_000516
KBio2_002135
KBio2_004703
KBio2_007271
KBio3_002660
KBioGR_001531
KBioSS_002135
LS-20638
Liposome Encapsulated Mitoxantrone (LEM)
Lopac-M-6545
Lopac0_000779
MITOXANTRONE, 1,4-DIHYDROXY-5,8-BIS({2-[(2-HYDROXYETHYL)AMINO]ETHYL}AMINO)ANTHRA-9,10-QUINONE
MITOXANTRONE, Mitoxantrone Hydrochloride, Mitoxantrone dihydrochloride, MITOXANTHRONE HYDROCHLORIDE
MIX
 
MLS002703044
Misostol
Misostol (TN)
Mitox
Mitoxanthrone
Mitoxantron
Mitoxantrona
Mitoxantrona [INN-Spanish]
Mitoxantrone
Mitoxantrone (INN)
Mitoxantrone (free base)
Mitoxantrone 2HCl
Mitoxantrone HCl
Mitoxantrone [INN]
Mitoxantrone dihydrochloride
Mitoxantrone hydrochloride
Mitoxantronum
Mitoxantronum [INN-Latin]
Mitozantrone
Mitozantrone hydrochloride
MolPort-003-849-239
NCGC00015693-01
NCGC00015693-02
NCGC00015693-04
NCGC00162251-01
NCI60_002276
NCI60_002535
NChemBio.2007.10-comp17
NINDS_000516
NSC 279836
NSC-279836
NSC-287836
NSC-299195
NSC-301739
NSC-301739D
NSC279836
NSC299195
NSC301739
Neuro_000153
Novantron
Novantrone
Novantrone(R) (mitoxantrone for injection concentrate)
Prestwick0_000385
Prestwick1_000385
Prestwick2_000385
Prestwick3_000385
S2485_Selleck
SMP2_000179
SMR001549953
SPBio_000756
SPBio_002490
SR-01000076001
SR-01000076001-7
STK631833
Spectrum2_000908
Spectrum3_001590
Spectrum4_000866
Spectrum5_001205
Spectrum_001655
UNII-BZ114NVM5P
VU0244399-2
mitoxantrone
7
DaunorubicinPhase 225920830-81-330323
Synonyms:
(+)-Daunomycin
(1S,3S)-3-acetyl-3,5,12-trihydroxy-10-(methyloxy)-6,11-dioxo-1,2,3,4,6,11-hexahydrotetracen-1-yl 3-amino-2,3,6-trideoxy-alpha-L-lyxo-hexopyranoside
(1S,3S)-3-acetyl-3,5,12-trihydroxy-10-methoxy-6,11-dioxo-1,2,3,4,6,11-hexahydrotetracen-1-yl 3-amino-2,3,6-trideoxy-a-L-lyxo-hexopyranoside
(7S,9R)-9-Acetyl-7-[(2S,4S,5S,6S)-4-amino-5-hydroxy-6-methyl-oxan-2-yl]oxy-6,9,11-trihydroxy-4-methoxy-8,10-dihydro-7H-tetracene-5,12-dione
(7S,9S)-9-acetyl-7-[(2R,4S,5S,6S)-4-amino-5-hydroxy-6-methyloxan-2-yl]oxy-6,9,11-trihydroxy-4-methoxy-8,10-dihydro-7H-tetracene-5,12-dione
(8S-cis)-8-Acetyl-10-((3-amino-2,3,6-trideoxy-alpha-L-lyxo-hexopyrannosyl)oxy)-7,8,9,10-tetrahydro-6,8,11-trihydroxy-1-methoxy-5,12-napthacenedione
(8S-cis)-8-Acetyl-10-[(3-amino-2,3,6-trideoxy-.alpha.-L-lyxo-hexopyranosyl)oxy]-7,8,9,10-tetrahydro--6,8,11-trihydroxy-1-methoxy-5,12-naphthacenedione
11006-54-5
11048-29-6
1407-15-4
149541-57-1
20830-81-3
23942-76-9
27576-81-4
28020-80-6
AB00514669
AC1L1JCP
AC1Q29OI
AI3-52942
Acetyladriamycin
Anthracyline
Antibiotics From Streptomyces Coeruleorubidus
Antibiotics from Streptomyces coeruleorubidus
BPBio1_000389
BRD-K43389675-003-02-7
BRN 1445583
BSPBio_000353
C01907
CCRIS 914
CHEBI:41977
CHEMBL178
CID30323
Cerubidin
Cerubidine
D07776
DAUNORUBICIN HCL
DB00694
DM1
Daunamycin
Daunarubicinum
Dauno-Rubidomycine
DaunoXome
DaunoXome (TN)
Daunoblastin
Daunoblastine
Daunomycin
 
Daunomycin Hydrochloride
Daunomycin, Hydrochloride
Daunorrubicina
Daunorubicin
Daunorubicin (INN)
Daunorubicin (liposomal)
Daunorubicin Hcl
Daunorubicin Hydrochloride
Daunorubicin [INN:BAN]
Daunorubicin, Hydrochloride
Daunorubicina
Daunorubicine
Daunorubicinum
Daunorubicinum [INN-Latin]
Daunoxome
EINECS 244-069-7
FI 6339
FI6339
HMS2089H04
HMS2091K06
HSDB 5095
LMPK13050002
LS-187381
LS-997
Leukaemomycin C
MolPort-002-533-961
NCGC00024246-05
NCGC00024246-06
NCGC00025173-01
NCI-C04693
NChemBio.2007.10-comp14
NSC 83142
NSC-82151
Ondena
Prestwick3_000487
RCRA waste no. U059
RP 13057
Rcra Waste No. U059
Rp 13057 Hydrochloride
Rubidomycin
Rubidomycin Hydrochloride
Rubomycin
Rubomycin C
Tocris-1467
UNII-ZS7284E0ZP
VS-103
daunorubicin
nchembio723-comp2
8
DantrolenePhase 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
9
CytarabinePhase 21074147-94-46253
Synonyms:
(beta-D-Arabinofuranosyl)cytosine
(beta-D-arabinofuranosyl)cytosine
1-.beta.-D-arabinofuranosyl-cytosine
1-Arabinofuranosylcytosine
1-beta -D-Arabinofaranosylcytosine
1-beta -D-Arabinofuranosyl-4-amino-2(1H)pyrimidinone
1-beta -D-Arabinofuranosylcytosine
1-beta-D-Arabinofaranosylcytosine
1-beta-D-Arabinofuranosyl-4-amino-2(1H)pyrimidinone
1-beta-D-Arabinofuranosyl-Cytosine
1-beta-D-Arabinofuranosylcytosine
1-beta-D-Arabinofuranosylcytosine, Cytosine Arabinoside
1-beta-D-Arabinosyl-Cytosine
1-beta-D-Arabinosylcytosine
147-94-4
1beta -Arabinofuranasylcytosine
1beta -D-Arabinofuranosylcytosine
1beta -D-Arabinosylcytosine
1beta-Arabinofuranasylcytosine
1beta-D-Arabinofuranosylcytosine
1beta-D-Arabinosylcytosine
2(1H)-Pyrimidinone, 4-amino-1- -D-arabinofuranosyl- [CAS]
2(1H)-Pyrimidinone, 4-amino-1- -D-arabinofuranosyl
30399_FLUKA
4-Amino-1-arabinofuranosyl-2-oxo-1,2-dihydropyrimidin
4-Amino-1-arabinofuranosyl-2-oxo-1,2-dihydropyrimidin [Czech]
4-Amino-1-arabinofuranosyl-2-oxo-1,2-dihydropyrimidine
4-Amino-1-b-D-arabinofuranosyl-2-(1H)-pyrimidinone
4-Amino-1-beta-D-arabinofuranosyl-2(1H)-pyrimidinon
4-Amino-1-beta-D-arabinofuranosyl-2(1H)-pyrimidinon [Czech]
4-Amino-1-beta-D-arabinofuranosyl-2(1H)-pyrimidinone
4-amino-1-[(2R,3S,4S,5R)-3,4-dihydroxy-5-(hydroxymethyl)oxolan-2-yl]pyrimidin-2-one
4-amino-1-beta-D-arabinofuranosylpyrimidin-2(1H)-one
69-74-9 (hydrochloride)
AC-1075
AC1L1M4F
AC1Q52OJ
AI3-52329
AR3
Alexan
Ara-C
Ara-C, Cytosine Arabinoside, Cytosar-U, Cytarabine
Ara-Cytidine
AraC
Arabinocytidine
Arabinofuranosyl Cytidine
Arabinofuranosylcytosine
Arabinosyl Cytosine
Arabinosylcytosine
Arabitin
Aracytidine
Aracytin
Aracytine
Arafcyt
BIDD:GT0371
BIDD:PXR0139
BTB15125
Beta-cytosine arabinoside
C02961
C1768_SIGMA
C2035
C9H13N3O5
CCRIS 913
CHEBI:28680
CHEMBL803
CHX 3311
CID6253
CPD000449317
CYTARABINE (SEE ALSO CYTARABINE HYDROCHLORIDE 69-74-9)
Citarabina
Citarabina [INN-Spanish]
Cytarabin
Cytarabina
Cytarabine
Cytarabine (JP15/USP/INN)
 
Cytarabine [USAN:INN:BAN:JAN]
Cytarabine liposome injection
Cytarabinoside
Cytarabinum
Cytarabinum [INN-Latin]
Cytarbel
Cytonal
Cytosar
Cytosar-U
Cytosine 1-beta-D-arabinofuranoside
Cytosine arabinofuranoside
Cytosine arabinose
Cytosine arabinoside
Cytosine arabinoside (VAN)
Cytosine beta-D-arabinofuranoside
Cytosine beta-D-arabinofuranoside hydrochloride
Cytosine beta-D-arabinoside
Cytosine, beta -D-arabinoside
Cytosine, beta-D-arabinoside
Cytosine-1-beta-D-arabinofuranoside
Cytosine-1-beta-D-arabinofuranoside hydrochloride
Cytosine-beta -D-arabinofuranoside
Cytosine-beta -arabinoside
Cytosine-beta-D-arabinofuranoside
Cytosine-beta-arabinoside
Cytosinearabinoside
D00168
DB00987
DepoCyte
Depocyt
Depocyt (TN)
Depocyt (liposomal)
Depocyte
EINECS 205-705-9
Erpalfa
FT-0082880
HMS2051K19
HMS2090A18
HSDB 3049
Intrathecal (injected into the spinal fluid) DepoCyt
Intrathecal cytarabine (also known as ara-C)
Iretin
LS-860
Lopac0_000316
MLS000758310
MLS001066340
MolPort-001-792-509
NCGC00093356-03
NCGC00093356-04
NCGC00093356-05
NCI-C04728
NSC 287459
NSC287459
S1648_Selleck
SAM001247012
SMR000449317
SR-01000075773-3
Spongocytidine
TL8001048
Tarabine
U 19920A
U-19,920
U-19920
UNII-04079A1RDZ
Udicil
ZINC03795098
beta -D-arabinosylcytosine
beta -arabinosylcytosine
beta -cytosine arabinoside
beta-Ara C
beta-Ara c
beta-Arabinosylcytosine
beta-Cytosine arabinoside
beta-D-Arabinosylcytosine
cytarabine
cytarabine liposome injection
cytosine-β-D-arabinofuranoside
10insulin4401
11
Exenatide281141758-74-915991534
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

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
3Trial of Intensive Chemotherapy With or Without Volasertib in Patients With Newly Diagnosed High-Risk Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia (AML)RecruitingNCT02198482Phase 2
4Tracking Neurodegeneration in Early Wolfram SyndromeRecruitingNCT02455414
5Wolfram Syndrome International Registry and Clinical StudyRecruitingNCT02841553
6European Home Mechanical Ventilation RegistryRecruitingNCT02315339
7Registry 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
8GLP Analogs for Diabetes in Wolfram Syndrome PatientsNot yet recruitingNCT01302327
9Adaptive 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 Deafness25
2 Wolfram Syndrome25 23 WFS1

Anatomical Context for Wolfram Syndrome

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MalaCards organs/tissues related to Wolfram Syndrome:

34
Eye, Brain, Pituitary, Myeloid, Heart, Pancreas, Kidney

Animal Models for Wolfram Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Wolfram Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.6AVP, CISD2, COMT, DRD5, EFEMP1, HSPA5
2MP:00028738.1AVP, BAMBI, DRD5, EFEMP1, HSPA5, SYVN1
3MP:00107717.6BAMBI, CISD2, EFEMP1, HSPA5, PCSK2, RECK
4MP:00036317.3AVP, CISD2, COMT, DRD5, HSPA5, RECK
5MP:00053797.0ATF6, CISD2, COMT, DRD5, EFEMP1, PCSK2
6MP:00053786.9ATF6, BAMBI, CISD2, EFEMP1, HSPA5, RECK
7MP:00053856.9CISD2, COMT, DRD5, EFEMP1, HSPA5, PCSK2
8MP:00053866.8AVP, BAMBI, CISD2, COMT, DRD5, PCSK2
9MP:00053766.8ATF6, AVP, CISD2, COMT, EFEMP1, HSPA5
10MP:00107686.0ATF6, AVP, CISD2, DRD5, EFEMP1, HSPA5

Publications for Wolfram Syndrome

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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:

68 (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)duplicationPathogenicrs727503745GRCh37Chr 4, 6302963: 6302969
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, 6304170: 6304173
6WFS1NM_006005.3(WFS1): c.1060_1062delTTC (p.Phe354del)deletionPathogenicrs876657735GRCh38Chr 4, 6300855: 6300857
7WFS1NM_006005.3(WFS1): c.2119G> T (p.Val707Phe)single nucleotide variantPathogenicrs71524377GRCh37Chr 4, 6303641: 6303641
8WFS1WFS1, 8-BP DEL, NT2106deletionPathogenic
9WFS1NM_006005.3(WFS1): c.2051C> T (p.Ala684Val)single nucleotide variantPathogenicrs387906930GRCh37Chr 4, 6303573: 6303573
10WFS1WFS1, 3-BP DEL, VAL415DELdeletionPathogenic
11WFS1WFS1, 4-BP DEL, 1387CTCTdeletionPathogenic
12WFS1WFS1, 2-BP DEL, 2812TCdeletionPathogenic
13WFS1WFS1, 15-BP DEL, NT1685deletionPathogenic
14WFS1NM_006005.3(WFS1): c.2171C> T (p.Pro724Leu)single nucleotide variantPathogenicrs28937890GRCh37Chr 4, 6303693: 6303693
15WFS1NM_006005.3(WFS1): c.2084G> T (p.Gly695Val)single nucleotide variantPathogenicrs28937891GRCh37Chr 4, 6303606: 6303606
16WFS1NM_006005.3(WFS1): c.1944G> A (p.Trp648Ter)single nucleotide variantPathogenicrs104893879GRCh37Chr 4, 6303466: 6303466
17WFS1NM_006005.3(WFS1): c.1511C> T (p.Pro504Leu)single nucleotide variantPathogenicrs28937892GRCh37Chr 4, 6303033: 6303033
18WFS1WFS1, 7-BP INS, NT1610insertionPathogenic
19WFS1WFS1, 9-BP DEL, NT1380deletionPathogenic
20WFS1WFS1, 460, G-A, +1single nucleotide variantPathogenic
21WFS1NM_006005.3(WFS1): c.676C> T (p.Gln226Ter)single nucleotide variantPathogenicrs104893880GRCh37Chr 4, 6293688: 6293688
22WFS1NM_006005.3(WFS1): c.2455C> T (p.Gln819Ter)single nucleotide variantPathogenicrs104893881GRCh37Chr 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)single nucleotide variantLikely pathogenic, Pathogenicrs28937893GRCh37Chr 4, 6303668: 6303668
25WFS1WFS1, 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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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
1secretory granuleGO:00301419.7AVP, PCSK2, SCG5
2smooth endoplasmic reticulumGO:00057909.6HSPA5, SYVN1, TH
3integral component of endoplasmic reticulum membraneGO:00301769.2ATF6, HSPA5, SYVN1, WFS1
4endoplasmic reticulumGO:00057839.0ATF6, CISD2, HSPA5, SYVN1, WFS1
5endoplasmic reticulum membraneGO:00057898.9ATF6, CISD2, HSPA5, SYVN1, WFS1
6dendriteGO:00304258.9AVP, COMT, PCSK2, TH, WFS1
7membraneGO:00160207.7ATF6, CISD2, COMT, HSPA5, PCSK2, RECK

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1renal water homeostasisGO:000309110.4AVP, WFS1
2ER overload responseGO:000698310.4HSPA5, WFS1
3cellular response to manganese ionGO:007128710.3HSPA5, TH
4positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stressGO:199044010.2ATF6, HSPA5
5ATF6-mediated unfolded protein responseGO:003650010.2ATF6, HSPA5
6multicellular organism agingGO:001025910.2CISD2, TH
7negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathwayGO:190223610.1SYVN1, WFS1
8positive regulation of adenylate cyclase activityGO:00457629.9DRD5, WFS1
9peptide hormone processingGO:00164869.9PCSK2, SCG5
10synaptic transmission, dopaminergicGO:00019639.7DRD5, TH
11response to organic cyclic compoundGO:00140709.7AVP, COMT, TH
12ER-associated ubiquitin-dependent protein catabolic processGO:00304339.7HSPA5, SYVN1, WFS1
13IRE1-mediated unfolded protein responseGO:00364989.7HSPA5, SYVN1, WFS1
14mating behaviorGO:00076179.6DRD5, TH
15response to amphetamineGO:00019759.4DRD5, TH
16visual perceptionGO:00076019.4ATF6, EFEMP1, TH, WFS1
17endoplasmic reticulum unfolded protein responseGO:00309689.4ATF6, HSPA5, SYVN1, WFS1
18learningGO:00076129.3COMT, DRD5, TH

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

idNameGO IDScoreTop Affiliating Genes
1dopamine bindingGO:00352409.7DRD5, TH
2unfolded protein bindingGO:00510828.8HSPA5, SCG5, SYVN1

Sources for Wolfram Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet