D-2-hydroxyglutaric aciduria 2

Summary
Synonym
  • D2HGA2
Definition
A D-2-hydroxyglutaric aciduria that has_material_basis_in heterozygous mutation in IDH2 on 15q26.1.
Super Class
D-2-hydroxyglutaric aciduria autosomal dominant disease
External Links
Disease Ontology
DOID:0111352
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3418 IDH2 isocitrate dehydrogenase (NADP(+)) 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
269951 Idh2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
Displaying 1 entry
Gene ID Gene Symbol Description Source
361596 Idh2 isocitrate dehydrogenase (NADP(+)) 2
Displaying all 2 entries
Gene ID Gene Symbol Description Source
850871 IDP2 isocitrate dehydrogenase (NADP(+)) IDP2
855723 IDP3 isocitrate dehydrogenase (NADP(+)) IDP3
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P48735 Isocitrate dehydrogenase [NADP], mitochondrial
The Human Phenotype Ontology
Displaying all 6 entries
HPO ID HPO Term
HP:0001263 Global developmental delay
HP:0001250 Seizure
HP:0012321 D-2-hydroxyglutaric aciduria
HP:0000006 Autosomal dominant inheritance
HP:0001638 Cardiomyopathy
HP:0001252 Hypotonia
Displaying 1 entry
Gene ID Gene Symbol Description
3418 IDH2 isocitrate dehydrogenase (NADP(+)) 2

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024