Details of Disease

General Information of Disease (ID: DISFYZD5)

Disease Name D-2-hydroxyglutaric aciduria 1
Synonyms D2HGA1; D-2-hydroxyglutaric aciduria; D-2-hydroxyglutaric aciduria caused by mutation in D2HGDH; D2HGDH D-2-hydroxyglutaric aciduria; D-2-hydroxyglutaric aciduria 1
Definition Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the D2HGDH gene.
Disease Hierarchy
DIS3JMXH: D-2-hydroxyglutaric aciduria
DISFYZD5: D-2-hydroxyglutaric aciduria 1
Disease Identifiers
MONDO ID
MONDO_0024554
UMLS CUI
C3152055
OMIM ID
600721
MedGen ID
463405

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
IDH2 OTTQA4PB Limited Genetic Variation [1]
D2HGDH OTLHXW69 Strong Autosomal recessive [2]
GCDH OTVQMZZN Strong Genetic Variation [3]
L2HGDH OTW6C712 Strong Biomarker [3]
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References

1 A lymphoblast model for IDH2 gain-of-function activity in d-2-hydroxyglutaric aciduria type II: novel avenues for biochemical and therapeutic studies.Biochim Biophys Acta. 2011 Nov;1812(11):1380-4. doi: 10.1016/j.bbadis.2011.08.006. Epub 2011 Aug 24.
2 Identification of a dehydrogenase acting on D-2-hydroxyglutarate. Biochem J. 2004 Jul 1;381(Pt 1):35-42. doi: 10.1042/BJ20031933.
3 D-2-hydroxyglutaric aciduria and glutaric aciduria type 1 in siblings: coincidence, or linked disorders?.Neuropediatrics. 2004 Jun;35(3):151-6. doi: 10.1055/s-2004-817905.