Details of Disease

General Information of Disease (ID: DIS3JMXH)

Disease Name D-2-hydroxyglutaric aciduria
Synonyms D2HGA; D2HA; D-2-hydroxyglutaric aciduria 1; D-2-HGA; D-2-hydroxyglutaric acidemia; D-2-hydroxyglutaric aciduria type 1
Definition
D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.
Disease Hierarchy
DIS4P821: 2-hydroxyglutaric aciduria
DIS3JMXH: D-2-hydroxyglutaric aciduria
Disease Identifiers
MONDO ID
MONDO_0010924
MESH ID
C535306
UMLS CUI
C1833429
MedGen ID
322192
HPO ID
HP:0012321
Orphanet ID
79315
SNOMED CT ID
237960000

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
D2HGDH OTLHXW69 Supportive Autosomal dominant [1]
IDH2 OTTQA4PB Supportive Autosomal dominant [2]
L2HGDH OTW6C712 Strong Altered Expression [3]
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References

1 Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria. Hum Mutat. 2010 Mar;31(3):279-83. doi: 10.1002/humu.21186.
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.
3 Measurement of D: -2-hydroxyglutarate dehydrogenase activity in cell homogenates derived from D: -2-hydroxyglutaric aciduria patients.J Inherit Metab Dis. 2009 Apr;32(2):264-8. doi: 10.1007/s10545-009-1104-1. Epub 2009 Mar 13.