d-2-hydroxyglutaric aciduria 2
Findings
No curated finding names d-2-hydroxyglutaric aciduria 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the IDH2 gene.
Definition from the Mondo Disease Ontology (MONDO:0013345), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
2 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- D-2-hydroxyglutaric acidemiaHPOHP:0040146
- 7 of 7 reported patients
- D-2-hydroxyglutaric aciduriaHPOHP:0012321
- 14 of 14 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- IDH2HGNC:5383
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: d-2-hydroxyglutaric aciduria 2
- Also called
- D-2-hydroxyglutaric aciduria caused by mutation in IDH2D-2-hydroxyglutaric aciduria type 2IDH2 D-2-hydroxyglutaric aciduria