Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

d-2-hydroxyglutaric aciduria 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

d-2-hydroxyglutaric aciduria 2

MONDO:0013345

Also known as:D-2-hydroxyglutaric aciduria caused by mutation in IDH2D-2-hydroxyglutaric aciduria type 2IDH2 D-2-hydroxyglutaric aciduria

Overview

Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the IDH2 gene.

GeneticsAutosomal dominant · IDH2 (chr 15)

ResearchLimited published research (7 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: D-2-hydroxyglutaric acidemia and D-2-hydroxyglutaric aciduria. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Seizure, Global developmental delay
Muscles

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

IDH2 encodes isocitrate dehydrogenase (NADP(+)) 2 (452 aa). Plays a role in intermediary metabolism and energy production. It may tightly associate or interact with the pyruvate dehydrogenase complex Highest expression in Muscle Skeletal (442.8 TPM) and Heart Left Ventricle (311.5 TPM).

D-2-hydroxyglutaric aciduria 2 is associated with mutations in the IDH2 gene on chromosome 15.

The IDH2 protein participates in SIRT3 deacetylates ACCS2, GLUD, IDH2, SOD2 and NFE2L2-dependent IDH1 gene expression pathways.

IDH2 is classified as a druggable target (Clinically Actionable and Enzyme categories) with score 5.4.

Diagnosis

Genetic testing for IDH2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for d-2-hydroxyglutaric aciduria 2.

7 publications have been identified in PubMed for d-2-hydroxyglutaric aciduria 2. Research spans Case Report / Case Series (71%) and Review / Meta-Analysis (29%).

Recent Publications

Marcuzzo MB (2026). [PMID: 41831085](https://pubmed.ncbi.nlm.nih.gov/41831085/). *Neurochemical research*. [Review / Meta-Analysis]
Roux J (2025). [PMID: 39839460](https://pubmed.ncbi.nlm.nih.gov/39839460/). *JAAD case reports*. [Case Report / Case Series]
Guo Q (2025). [PMID: 40870031](https://pubmed.ncbi.nlm.nih.gov/40870031/). *Genes*. [Case Report / Case Series]
Tanikawa S (2024). [PMID: 38995357](https://pubmed.ncbi.nlm.nih.gov/38995357/). *Virchows Archiv : an international journal of pathology*. [Case Report / Case Series]
Kühnl T (2024). [PMID: 38668906](https://pubmed.ncbi.nlm.nih.gov/38668906/). *Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:59 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613657

GARD

Genetic and Rare Diseases Info Center

GARD:15685

Questions for Your Care Team

→Should I pursue genetic testing for IDH2, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

d-2-hydroxyglutaric aciduria 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features