Details of Disease

General Information of Disease (ID: DISEO4HZ)

Disease Name Wolfram syndrome 2
Synonyms WOLFRAM syndrome 2; Wolfram syndrome caused by mutation in CISD2; Wolfram syndrome type 2; Wolfram syndrome 2; CISD2 Wolfram syndrome; WFS2
Definition Any Wolfram syndrome in which the cause of the disease is a mutation in the CISD2 gene.
Disease Hierarchy
DISYKSRF: Genetic disease
DISN16XW: Wolfram syndrome
DISEO4HZ: Wolfram syndrome 2
Disease Identifiers
MONDO ID
MONDO_0011502
UMLS CUI
C1858028
OMIM ID
604928
MedGen ID
347604

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CISD1 OT0MTVGF moderate Biomarker [1]
CISD3 OT0MM1MW moderate Biomarker [1]
CISD2 OTVS7S2H Strong Autosomal recessive [2]
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References

1 Binding of Nitric Oxide in CDGSH-type [2Fe-2S] Clusters of the Human Mitochondrial Protein Miner2.J Biol Chem. 2017 Feb 24;292(8):3146-3153. doi: 10.1074/jbc.M116.766774. Epub 2017 Jan 12.
2 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.