D-2-hydroxyglutaric aciduria: genes and variants
D-2-hydroxyglutaric aciduria is linked to 1 analyzed protein (IDH2). 3 DNA variants are known to cause it; 79 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: D-2-hydroxyglutaric aciduria 2
Genes linked to D-2-hydroxyglutaric aciduria
IDH2: Isocitrate dehydrogenase [NADP], mitochondrial
It normally generates alpha-ketoglutarate and NADPH inside mitochondria. Recurrent R140 and R172 cancer-associated variants instead produce D-2-hydroxyglutarate, an oncometabolite that drives epigenetic dysregulation in acute myeloid leukemia and other tumors.
3 disease-causing and 79 uncertain variants in IDH2 are linked to D-2-hydroxyglutaric aciduria.
Known disease-causing variants in D-2-hydroxyglutaric aciduria
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| IDH2 R140G | 140 | Disease-causing | |
| IDH2 A295T | 295 | Disease-causing | |
| IDH2 A347T | 347 | Disease-causing |
Diseases related to D-2-hydroxyglutaric aciduria
- Acute myeloid leukemia, also linked to IDH2
- Vascular malformation, also linked to IDH2
- Maffucci syndrome, also linked to IDH2
Frequently asked questions
Which genes are linked to D-2-hydroxyglutaric aciduria?
In CATVariant, D-2-hydroxyglutaric aciduria is linked to 1 analyzed protein: IDH2 (Isocitrate dehydrogenase [NADP], mitochondrial).
How many genetic variants are linked to D-2-hydroxyglutaric aciduria?
88 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 79 are of uncertain significance or have conflicting reports.
Which uncertain variants in D-2-hydroxyglutaric aciduria look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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