Details of Disease

General Information of Disease (ID: DIS5FY7E)

Disease Name L-2-hydroxyglutaric aciduria
Synonyms L2HGA; L-2-HGA; L-2-hydroxyglutaric aciduria; L-2-hydroxyglutaric acidemia
Definition L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.
Disease Hierarchy
DIS4P821: 2-hydroxyglutaric aciduria
DIS5FY7E: L-2-hydroxyglutaric aciduria
Disease Identifiers
MONDO ID
MONDO_0009370
MESH ID
C535306
UMLS CUI
C1855995
OMIM ID
236792
MedGen ID
341029
HPO ID
HP:0040144
Orphanet ID
79314
SNOMED CT ID
237961001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
L2HGDH OTW6C712 Definitive Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.