WFS2
MCID: WLF009
MIFTS: 45

Wolfram Syndrome 2 (WFS2) malady

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

Aliases & Classifications for Wolfram Syndrome 2

Aliases & Descriptions for Wolfram Syndrome 2:

Name: Wolfram Syndrome 2 54 12 24 66 29 13 14 69
Wfs2 12 24 66

Characteristics:

HPO:

32
wolfram syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 604928
Disease Ontology 12 DOID:0110630
ICD10 33 E13.8
MedGen 40 C1858028
MeSH 42 D014929

Summaries for Wolfram Syndrome 2

Disease Ontology : 12 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 gastric duplication cysts and wolfram syndrome, and has symptoms including depression, diabetes mellitus and sensorineural hearing impairment. An important gene associated with Wolfram Syndrome 2 is CISD2 (CDGSH Iron Sulfur Domain 2), and among its related pathways/superpathways are Signaling pathways regulating pluripotency of stem cells and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Acetylcysteine and Deferiprone have been mentioned in the context of this disorder. Related phenotypes are endocrine/exocrine gland and behavior/neurological

OMIM : 54 Wolfram syndrome-2 is an autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high... (604928) more...

UniProtKB/Swiss-Prot : 66 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

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:

id Related Disease Score Top Affiliating Genes
1 gastric duplication cysts 10.1 POU5F1 SOX2
2 wolfram syndrome 10.1
3 wolfram-like syndrome, autosomal dominant 10.1 CISD1 CISD2 TOMM40 WFS1
4 childhood kidney cell carcinoma 10.1 POU5F1 SOX2
5 breast mucoepidermoid carcinoma 10.0 KLF4 POU5F1 SOX2
6 toxascariasis 10.0 KLF4 POU5F1 SOX2
7 pediatric liposarcoma 10.0 POU5F1 SOX2
8 3-hydroxyacyl-coa dehydrogenase deficiency 7.8 BECN1 BIK CISD1 CISD2 CISD3 CLN3

Graphical network of the top 20 diseases related to Wolfram Syndrome 2:



Diseases related to Wolfram Syndrome 2

Symptoms & Phenotypes for Wolfram Syndrome 2

Symptoms by clinical synopsis from OMIM:

604928

Clinical features from OMIM:

604928

Human phenotypes related to Wolfram Syndrome 2:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 depression 32 HP:0000716
2 diabetes mellitus 32 HP:0000819
3 sensorineural hearing impairment 32 HP:0000407
4 optic atrophy 32 HP:0000648
5 abnormal bleeding 32 HP:0001892
6 gastric ulcer 32 HP:0002592
7 optic neuropathy 32 HP:0001138
8 impaired collagen-induced platelet aggregation 32 HP:0008320

MGI Mouse Phenotypes related to Wolfram Syndrome 2:

44 (show all 13)
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.23 BECN1 BIK CISD2 FES ITGA2 KLF4
2 behavior/neurological MP:0005386 10.22 BECN1 CISD2 CLN3 ITGA2 KLF4 MNT
3 cellular MP:0005384 10.21 BECN1 CISD1 CISD2 CLN3 ITGA2 POU5F1
4 growth/size/body region MP:0005378 10.17 BECN1 BIK CISD2 FES FOSL1 KLF4
5 hematopoietic system MP:0005397 10.14 RUNX2 BECN1 BIK CLN3 FES FOSL1
6 homeostasis/metabolism MP:0005376 10.11 BECN1 CISD2 CLN3 FES ITGA2 KLF4
7 digestive/alimentary MP:0005381 10.08 CISD2 FES KLF4 MNT POU5F1 RUNX2
8 craniofacial MP:0005382 10.04 CISD2 FES KLF4 MNT PPT1 RUNX2
9 integument MP:0010771 10.02 BECN1 CISD2 FES ITGA2 KLF4 MNT
10 mortality/aging MP:0010768 10 CLN3 FES FOSL1 KLF4 MNT POU5F1
11 liver/biliary system MP:0005370 9.8 CLN3 FES FOSL1 POU5F1 PPIA PPT1
12 reproductive system MP:0005389 9.61 BECN1 CLN3 FES KLF4 MNT POU5F1
13 vision/eye MP:0005391 9.23 CISD2 CLN3 FES KLF4 PPIA PPT1

Drugs & Therapeutics for Wolfram Syndrome 2

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

(show all 30)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 2, Phase 3 616-91-1 12035
2
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
3
Iron Approved Phase 2, Phase 3 7439-89-6 23925
4
Metformin Approved Phase 2, Phase 3 657-24-9 14219 4091
5 Hormone Antagonists Phase 2, Phase 3
6 Hormones Phase 2, Phase 3
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
8 Hypoglycemic Agents Phase 2, Phase 3
9 Incretins Phase 2, Phase 3
10 Antidotes Phase 2, Phase 3
11 Anti-Infective Agents Phase 2, Phase 3
12 Antioxidants Phase 2, Phase 3
13 Antiviral Agents Phase 2, Phase 3
14 Chelating Agents Phase 2, Phase 3
15 Dipeptidyl-Peptidase IV Inhibitors Phase 2, Phase 3
16 Expectorants Phase 2, Phase 3
17 HIV Protease Inhibitors Phase 2, Phase 3
18 Iron Chelating Agents Phase 2, Phase 3
19 N-monoacetylcystine Phase 2, Phase 3
20
protease inhibitors Phase 2, Phase 3
21 Protective Agents Phase 2, Phase 3
22 Respiratory System Agents Phase 2, Phase 3
23 Sitagliptin Phosphate Phase 2, Phase 3
24
Dantrolene Approved Phase 1, Phase 2 7261-97-4 2952 6914273
25 Neuromuscular Agents Phase 1, Phase 2
26 Peripheral Nervous System Agents Phase 1, Phase 2
27
Exenatide Approved, Investigational 141758-74-9 15991534
28 Glucagon-Like Peptide 1
29 insulin
30 Insulin, Globin Zinc

Interventional clinical trials:


id Name Status NCT ID Phase
1 Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone and Incretin Based Therapy Not yet recruiting NCT02882477 Phase 2, Phase 3
2 A Clinical Trial of Dantrolene Sodium in Pediatric and Adult Patients With Wolfram Syndrome Recruiting NCT02829268 Phase 1, Phase 2
3 GLP Analogs for Diabetes in Wolfram Syndrome Patients Unknown status NCT01302327
4 Wolfram Syndrome International Registry and Clinical Study Recruiting NCT02841553
5 Tracking Neurodegeneration in Early Wolfram Syndrome Recruiting NCT02455414
6 Registry 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)-Project Recruiting NCT01252485

Search NIH Clinical Center for Wolfram Syndrome 2

Genetic Tests for Wolfram Syndrome 2

Genetic tests related to Wolfram Syndrome 2:

id Genetic test Affiliating Genes
1 Wolfram Syndrome 2 29 24 CISD2

Anatomical Context for Wolfram Syndrome 2

Publications for Wolfram Syndrome 2

Articles related to Wolfram Syndrome 2:

id Title Authors Year
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
Mitochondrial abnormalities drive cell death in Wolfram syndrome 2. ( 19648948 )
2009
4
Crystal structure of Miner1: The redox-active 2Fe-2S protein causative in Wolfram Syndrome 2. ( 19580816 )
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

ClinVar genetic disease variations for Wolfram Syndrome 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CISD2 NM_001008388.4(CISD2): c.109G> C (p.Glu37Gln) single nucleotide variant Pathogenic rs63749888 GRCh37 Chromosome 4, 103806378: 103806378
2 CISD2 NM_001008388.4(CISD2): c.(104_304)-84_318+724del deletion Pathogenic GRCh38 Chromosome 4, 102885132: 102887186

Expression for Wolfram Syndrome 2

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

Pathways for Wolfram Syndrome 2

GO Terms for Wolfram Syndrome 2

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.28 BECN1 BIK CISD1 CISD2 CISD3 CLN3

Biological processes related to Wolfram Syndrome 2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.88 KLF4 MNT POU5F1 SOX2 WFS1
2 negative regulation of neuron apoptotic process GO:0043524 9.63 CLN3 PPT1 WFS1
3 macroautophagy GO:0016236 9.61 BECN1 CLN3 TOMM40
4 somatic stem cell population maintenance GO:0035019 9.54 KLF4 POU5F1 SOX2
5 transcription from RNA polymerase II promoter GO:0006366 9.43 FOSL1 KLF4 MNT POU5F1 RUNX2 SOX2
6 positive regulation of protein metabolic process GO:0051247 9.4 KLF4 WFS1
7 regulation of cell differentiation GO:0045595 9.33 FES KLF4 RUNX2
8 lysosomal lumen acidification GO:0007042 9.32 CLN3 PPT1
9 endodermal cell fate specification GO:0001714 9.26 POU5F1 SOX2
10 lysosome organization GO:0007040 8.8 BECN1 CLN3 PPT1

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 9.85 FOSL1 KLF4 MNT POU5F1 RUNX2 SOX2
2 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 9.46 FOSL1 KLF4 RUNX2 SOX2
3 miRNA binding GO:0035198 9.32 POU5F1 SOX2
4 iron-sulfur cluster binding GO:0051536 9.13 CISD1 CISD2 CISD3
5 2 iron, 2 sulfur cluster binding GO:0051537 8.8 CISD1 CISD2 CISD3
6 protein binding GO:0005515 10.16 BECN1 BIK CISD2 CLN3 FES FOSL1

Sources for Wolfram Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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