Details of Disease

General Information of Disease (ID: DIS4P821)

Disease Name 2-hydroxyglutaric aciduria
Synonyms 2-HGA; 2-hydroxyglutaric acidemia; 2-hydroxyglutaric aciduria
Definition
2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine.
Disease Hierarchy
DISD715V: Hereditary neurological disease
DISO5FAY: Inborn error of metabolism
DIS4P821: 2-hydroxyglutaric aciduria
Disease Identifiers
MONDO ID
MONDO_0016001
MESH ID
C535306
UMLS CUI
C2746066
MedGen ID
412535
Orphanet ID
19
SNOMED CT ID
698870008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SLC25A1 TTTD730 Strong Genetic Variation [1]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
IDH2 OTTQA4PB Limited Biomarker [2]
D2HGDH OTLHXW69 Strong Genetic Variation [3]
L2HGDH OTW6C712 Strong Genetic Variation [4]
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References

1 Pathogenic mutations of the human mitochondrial citrate carrier SLC25A1 lead to impaired citrate export required for lipid, dolichol, ubiquinone and sterol synthesis.Biochim Biophys Acta Bioenerg. 2018 Jan;1859(1):1-7. doi: 10.1016/j.bbabio.2017.10.002. Epub 2017 Oct 12.
2 A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D-2-hydroxyglutaric aciduria type II mouse model.J Inherit Metab Dis. 2016 Nov;39(6):807-820. doi: 10.1007/s10545-016-9960-y. Epub 2016 Jul 28.
3 D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants.Hum Mutat. 2019 Jul;40(7):975-982. doi: 10.1002/humu.23751. Epub 2019 Apr 13.
4 Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria.BMC Med Genet. 2018 Sep 14;19(1):167. doi: 10.1186/s12881-018-0675-9.