Details of Disease

General Information of Disease (ID: DISWXIE7)

Disease Name D-2-hydroxyglutaric aciduria 2
Synonyms D2HGA2; D-2-hydroxyglutaric aciduria 2; IDH2 D-2-hydroxyglutaric aciduria; D-2-hydroxyglutaric aciduria type 2; D-2-hydroxyglutaric aciduria caused by mutation in IDH2; d-2-hydroxyglutaric aciduria 2
Definition Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the IDH2 gene.
Disease Hierarchy
DIS3JMXH: D-2-hydroxyglutaric aciduria
DISWXIE7: D-2-hydroxyglutaric aciduria 2
Disease Identifiers
MONDO ID
MONDO_0013345
UMLS CUI
C3150909
OMIM ID
613657
MedGen ID
462259

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
D2HGDH OTLHXW69 Strong Genetic Variation [1]
IDH2 OTTQA4PB Strong Autosomal dominant [2]
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References

1 Computational approach to unravel the impact of missense mutations of proteins (D2HGDH and IDH2) causing D-2-hydroxyglutaric aciduria 2.Metab Brain Dis. 2018 Oct;33(5):1699-1710. doi: 10.1007/s11011-018-0278-3. Epub 2018 Jul 9.
2 IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Science. 2010 Oct 15;330(6002):336. doi: 10.1126/science.1192632. Epub 2010 Sep 16.