IDH2, isocitrate dehydrogenase (NADP(+)) 2, 3418

N. diseases: 83; N. variants: 5
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 1 ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3152055
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 1
D-2-HYDROXYGLUTARIC ACIDURIA 1 		0.320 GermlineCausalMutation disease ORPHANET We have detected heterozygous germline mutations in IDH2 that alter enzyme residue Arg(140) in 15 unrelated patients with d-2-hydroxyglutaric aciduria (D-2-HGA), a rare neurometabolic disorder characterized by supraphysiological levels of D-2-HG. 20847235 2010