L-2-hydroxyglutaric aciduria

Summary
Synonym
  • L-2-HYDROXYGLUTARIC ACIDEMIA
Definition
An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia).
Super Class
2-hydroxyglutaric aciduria cerebellar disease
External Links
Disease Ontology
DOID:0050574
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
79944 L2HGDH L-2-hydroxyglutarate dehydrogenase
Displaying 1 entry
Gene ID Gene Symbol Description Source
35156 L2HGDH L-2-hydroxyglutarate dehydrogenase
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9H9P8 L-2-hydroxyglutarate dehydrogenase, mitochondrial
The Human Phenotype Ontology
Displaying entries 1 - 10 of 29 in total
HPO ID HPO Term
HP:0002383 Infectious encephalitis
HP:0001252 Hypotonia
HP:0010864 Intellectual disability, severe
HP:0000708 Atypical behavior
HP:0006887 Intellectual disability, progressive
HP:0002071 Abnormality of extrapyramidal motor function
HP:0000256 Macrocephaly
HP:0004375 Neoplasm of the nervous system
HP:0001285 Spastic tetraparesis
HP:0007360 Aplasia/Hypoplasia of the cerebellum
Displaying 1 entry
Gene ID Gene Symbol Description
79944 L2HGDH L-2-hydroxyglutarate dehydrogenase

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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: August 19, 2024