MCID: WLF009
MIFTS: 30

Wolfram Syndrome 2 malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Endocrine diseases, Fetal diseases categories

Aliases & Classifications for Wolfram Syndrome 2

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Aliases & Descriptions for Wolfram Syndrome 2:

Name: Wolfram Syndrome 2 49 11 22 24 65 67
 
Wfs2 22 67


Classifications:



External Ids:

OMIM49 604928
MedGen34 C1858028
MeSH36 D014929

Summaries for Wolfram Syndrome 2

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OMIM:49 Wolfram syndrome-2 is an autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high... (604928) more...

MalaCards based summary: Wolfram Syndrome 2, also known as wfs2, is related to wolfram syndrome and strictly posterior acute myocardial infarction, and has symptoms including autosomal recessive inheritance, sensorineural hearing impairment and optic atrophy. An important gene associated with Wolfram Syndrome 2 is CISD2 (CDGSH Iron Sulfur Domain 2). Affiliated tissues include eye.

UniProtKB/Swiss-Prot:67 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 syndrome30.1CISD2, TOMM40, WFS1
2strictly posterior acute myocardial infarction9.8CISD2, WFS1
3upper gum cancer9.8CISD2, WFS1
4optic atrophy plus syndrome9.7CISD2, WFS1
5wolfram syndrome 29.4CISD1, CISD2, TOMM40, WFS1

Graphical network of diseases related to Wolfram Syndrome 2:



Diseases related to wolfram syndrome 2

Symptoms for Wolfram Syndrome 2

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Symptoms by clinical synopsis from OMIM:

604928

Clinical features from OMIM:

604928

HPO human phenotypes related to Wolfram Syndrome 2:

(show all 8)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 sensorineural hearing impairment HP:0000407
3 optic atrophy HP:0000648
4 diabetes mellitus HP:0000819
5 optic neuropathy HP:0001138
6 abnormal bleeding HP:0001892
7 gastric ulcer HP:0002592
8 impaired collagen-induced platelet aggregation 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):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Exenatideapproved, investigational257141758-74-915991534
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
2Insulin, Globin Zinc4069
3insulin4069
4Glucagon-Like Peptide 1652

Interventional clinical trials:

idNameStatusNCT IDPhase
1Tracking Neurodegeneration in Early Wolfram SyndromeRecruitingNCT02455414
2GLP Analogs for Diabetes in Wolfram Syndrome PatientsNot yet recruitingNCT01302327

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 222 24 CISD2

Anatomical Context for Wolfram Syndrome 2

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MalaCards organs/tissues related to Wolfram Syndrome 2:

33
Eye

Animal Models for Wolfram Syndrome 2 or affiliated genes

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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
1NM_001008388.4(CISD2): c.(104_304)-84_318+724deldeletionPathogenicGRCh38Chr 4, 102885132: 102887186
2NM_001008388.4(CISD2): c.109G> C (p.Glu37Gln)single nucleotide variantPathogenicrs63749888GRCh37Chr 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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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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet