MCID: WLF009
MIFTS: 30

Wolfram Syndrome 2 malady

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

Summaries for Wolfram Syndrome 2

About this section


OMIM:47 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 3-methylglutaconic aciduria, type iii, 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

About this section

Wolfram Syndrome 2, Aliases & Descriptions:

Name: Wolfram Syndrome 2 47 11 22 24 62


Classifications:



External Ids:

OMIM47 604928

Related Diseases for Wolfram Syndrome 2

About this section

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/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1wolfram syndrome30.8WFS1, CISD2
23-methylglutaconic aciduria, type iii10.0WFS1, CISD2
3waterhouse-friderichsen syndrome10.0WFS1, CISD2

Symptoms for Wolfram Syndrome 2

About this section

Symptoms by clinical synopsis from OMIM:

604928

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

About this section

Drug clinical trials:

Search ClinicalTrials for Wolfram Syndrome 2

Search NIH Clinical Center for Wolfram Syndrome 2

Genetic Tests for Wolfram Syndrome 2

About this section

Genetic tests related to Wolfram Syndrome 2:

id Genetic test Affiliating Genes
1 Wolfram Syndrome 222 24 CISD2

Anatomical Context for Wolfram Syndrome 2

About this section

Animal Models for Wolfram Syndrome 2 or affiliated genes

About this section

Publications for Wolfram Syndrome 2

About this section

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

About this section

Clinvar genetic disease variations for Wolfram Syndrome 2:

7
id Gene Variation 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

About this section

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

Pathways for genes affiliated with Wolfram Syndrome 2

About this section

Compounds for genes affiliated with Wolfram Syndrome 2

About this section

GO Terms for genes affiliated with Wolfram Syndrome 2

About this section

Cellular components related to Wolfram Syndrome 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial outer membraneGO:00057419.4CISD1, CISD2

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

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

Products for genes affiliated with Wolfram Syndrome 2

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Wolfram Syndrome 2

About this section
4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet