D-2-hydroxyglutaric aciduria

Summary
Definition
An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory.
Super Class
2-hydroxyglutaric aciduria
Disease Ontology
DOID:0050575
Mondo Disease Ontology
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3417 IDH1 isocitrate dehydrogenase (NADP(+)) 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
15926 Idh1 isocitrate dehydrogenase 1 (NADP+), soluble
Displaying 1 entry
Gene ID Gene Symbol Description Source
24479 Idh1 isocitrate dehydrogenase (NADP(+)) 1
Displaying all 3 entries
Gene ID Gene Symbol Description Source
850871 IDP2 isocitrate dehydrogenase (NADP(+)) IDP2
851493 IDP1 isocitrate dehydrogenase (NADP(+)) IDP1
855723 IDP3 isocitrate dehydrogenase (NADP(+)) IDP3

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: December 9, 2024