MCID: WLF009
MIFTS: 35

Wolfram Syndrome 2 malady

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

Aliases & Classifications for Wolfram Syndrome 2

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Aliases & Descriptions for Wolfram Syndrome 2:

Name: Wolfram Syndrome 2 52 11 24 70 27 12 68
 
Wfs2 11 24 70

Characteristics:

HPO:

64
wolfram syndrome 2:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 604928
Disease Ontology11 DOID:0110630
ICD1030 E13.8
MedGen37 C1858028
MeSH39 D014929

Summaries for Wolfram Syndrome 2

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Disease Ontology:11 An autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding. It has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CISD2 gene on chromosome 4q24.

MalaCards based summary: Wolfram Syndrome 2, also known as wfs2, is related to wolfram syndrome and blepharitis, and has symptoms including sensorineural hearing impairment, optic atrophy and diabetes mellitus. An important gene associated with Wolfram Syndrome 2 is CISD2 (CDGSH Iron Sulfur Domain 2), and among its related pathways is Glucose / Energy Metabolism. Affiliated tissues include myeloid.

OMIM:52 Wolfram syndrome-2 is an autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high... (604928) more...

UniProtKB/Swiss-Prot:70 Wolfram syndrome 2: A rare disorder characterized by juvenile-onset insulin-dependent diabetes mellitus with optic atrophy. Other manifestations include diabetes insipidus, sensorineural deafness, dementia, psychiatric illnesses. WFS2 patients additionally show a strong bleeding tendency and gastrointestinal ulceration. Diabetes insipidus may be absent.

Related Diseases for Wolfram Syndrome 2

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Diseases in the Wolfram Syndrome family:

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

Diseases related to Wolfram Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1wolfram syndrome10.1
2blepharitis9.5CISD2, WFS1
3chronic canaliculitis9.5CISD2, WFS1
4morbid obesity and spermatogenic failure9.3CISD2, WFS1
5deafness, autosomal dominant 6/14/389.0CISD2, TOMM40, WFS1
6mannosidosis, beta8.6CISD1, CISD2, TOMM40, WFS1

Graphical network of diseases related to Wolfram Syndrome 2:



Diseases related to wolfram syndrome 2

Symptoms & Phenotypes for Wolfram Syndrome 2

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Symptoms by clinical synopsis from OMIM:

604928

Clinical features from OMIM:

604928

Human phenotypes related to Wolfram Syndrome 2:

 64 (show all 7)
id Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment64 HP:0000407
2 optic atrophy64 HP:0000648
3 diabetes mellitus64 HP:0000819
4 optic neuropathy64 HP:0001138
5 abnormal bleeding64 HP:0001892
6 gastric ulcer64 HP:0002592
7 impaired collagen-induced platelet aggregation64 HP:0008320

Drugs & Therapeutics for Wolfram Syndrome 2

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Drugs for Wolfram Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 28)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
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
2
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
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
5IncretinsPhase 2, Phase 31537
6Iron Chelating AgentsPhase 2, Phase 3222
7N-monoacetylcystinePhase 2, Phase 3316
8Sitagliptin PhosphatePhase 2, Phase 3416
9Respiratory System AgentsPhase 2, Phase 34818
10Protective AgentsPhase 2, Phase 37190
11
protease inhibitorsPhase 2, Phase 35320
Synonyms:
 
protease inhibitors
12Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 2, Phase 312767
13Hypoglycemic AgentsPhase 2, Phase 35733
14Antiviral AgentsPhase 2, Phase 39732
15HormonesPhase 2, Phase 313979
16Anti-Infective AgentsPhase 2, Phase 321402
17AntidotesPhase 2, Phase 31038
18Chelating AgentsPhase 2, Phase 31365
19AntioxidantsPhase 2, Phase 32928
20Hormone AntagonistsPhase 2, Phase 312778
21HIV Protease InhibitorsPhase 2, Phase 35319
22ExpectorantsPhase 2, Phase 3388
23Dipeptidyl-Peptidase IV InhibitorsPhase 2, Phase 3846
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
25Neuromuscular AgentsPhase 1, Phase 21129
26Peripheral Nervous System AgentsPhase 1, Phase 222776
27Insulin, Globin Zinc4523
28insulin4524

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
3Wolfram Syndrome International Registry and Clinical StudyRecruitingNCT02841553
4Tracking Neurodegeneration in Early Wolfram SyndromeRecruitingNCT02455414
5Registry 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

Search NIH Clinical Center for Wolfram Syndrome 2

Genetic Tests for Wolfram Syndrome 2

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Genetic tests related to Wolfram Syndrome 2:

id Genetic test Affiliating Genes
1 Wolfram Syndrome 227 24 CISD2

Anatomical Context for Wolfram Syndrome 2

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MalaCards organs/tissues related to Wolfram Syndrome 2:

36
Myeloid

Publications for Wolfram Syndrome 2

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Articles related to Wolfram Syndrome 2:

idTitleAuthorsYear
1
Wolfram syndrome 2: a novel CISD2 mutation identified in Italian siblings. (25371195)
2014
2
Wolfram syndrome 1 and Wolfram syndrome 2. (22790102)
2012
3
Crystal structure of Miner1: The redox-active 2Fe-2S protein causative in Wolfram Syndrome 2. (19580816)
2009
4
Mitochondrial abnormalities drive cell death in Wolfram syndrome 2. (19648948)
2009
5
A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. (17846994)
2007

Variations for Wolfram Syndrome 2

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Clinvar genetic disease variations for Wolfram Syndrome 2:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CISD2NM_001008388.4(CISD2): c.(104_304)-84_318+724deldeletionPathogenicGRCh38Chr 4, 102885132: 102887186
2CISD2NM_001008388.4(CISD2): c.109G> C (p.Glu37Gln)SNVPathogenicrs63749888GRCh37Chr 4, 103806378: 103806378

Expression for genes affiliated with Wolfram Syndrome 2

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Search GEO for disease gene expression data for Wolfram Syndrome 2.

Pathways for genes affiliated with Wolfram Syndrome 2

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Pathways related to Wolfram Syndrome 2 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.1CISD1, WFS1

GO Terms for genes affiliated with Wolfram Syndrome 2

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Cellular components related to Wolfram Syndrome 2 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial outer membraneGO:00057418.8CISD1, CISD2, TOMM40

Molecular functions related to Wolfram Syndrome 2 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
12 iron, 2 sulfur cluster bindingGO:00515379.4CISD1, CISD2

Sources for Wolfram Syndrome 2

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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