D-2-hydroxyglutaric aciduria 1
Findings
No curated finding names D-2-hydroxyglutaric aciduria 1 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 D2HGDH gene.
Definition from the Mondo Disease Ontology (MONDO:0024554), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
12 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.
- Bilateral tonic-clonic seizureHPOHP:0002069
- 2 of 2 reported patients
- D-2-hydroxyglutaric aciduriaHPOHP:0012321
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Cerebral visual impairmentHPOHP:0100704
- 1 of 2 reported patients
- Episodic vomitingHPOHP:0002572
- 1 of 2 reported patients
- HypotoniaHPOHP:0001252
- 1 of 2 reported patients
- HypsarrhythmiaHPOHP:0002521
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.
- D2HGDHHGNC:28358
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2026
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: D-2-hydroxyglutaric aciduria 1
- Also called
- D-2-hydroxyglutaric aciduria caused by mutation in D2HGDHD2HGDH D-2-hydroxyglutaric aciduria