MCID: WLF009
MIFTS: 28

Wolfram Syndrome 2 malady

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

Summaries for Wolfram Syndrome 2

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OMIM:46 Wolfram syndrome-2 is an autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high...604928 more...

MalaCards based summary: Wolfram Syndrome 2 is related to wolfram syndrome and opa3-related 3-methylglutaconic aciduria, 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).

Aliases & Classifications for Wolfram Syndrome 2

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Wolfram Syndrome 2, Aliases & Descriptions:

Name: Wolfram Syndrome 2 21 23 46 61


Classifications:



Related Diseases for Wolfram Syndrome 2

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Diseases in the Wolfram Syndrome family:

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

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

idRelated DiseaseScoreTop Affiliating Genes
1wolfram syndrome30.8WFS1, CISD2
2opa3-related 3-methylglutaconic aciduria10.0WFS1, CISD2
3waterhouse-friderichsen syndrome9.9WFS1, CISD2

Symptoms for Wolfram Syndrome 2

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Clinical features from OMIM:

604928

HPO human phenotypes related to Wolfram Syndrome 2:

(show all 7)
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 abnormal bleeding HP:0001892
6 gastric ulcer HP:0002592
7 impaired collagen-induced platelet aggregation HP:0008320

Drugs & Therapeutics for Wolfram Syndrome 2

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Drug clinical trials:

Search ClinicalTrials for Wolfram Syndrome 2

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 221 23 CISD2

Anatomical Context for Wolfram Syndrome 2

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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:

7
id Gene Name Type Significance SNP ID Assembly Location
1NM_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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Expression patterns in normal tissues for genes affiliated with Wolfram Syndrome 2

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

Pathways for genes affiliated with Wolfram Syndrome 2

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Compounds 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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial outer membraneGO:0057419.4CISD1, CISD2

Molecular functions related to Wolfram Syndrome 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
12 iron, 2 sulfur cluster bindingGO:0515379.4CISD1, CISD2

Products for genes affiliated with Wolfram Syndrome 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Wolfram Syndrome 2

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet