Leigh disease

Summary
Synonym
  • Infantile necrotizing encephalomyelopathy
  • Leigh syndrome
  • juvenile subacute necrotizing encephalomyelopathy
Definition
A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity.
Super Class
cytochrome-c oxidase deficiency disease
External Links
Disease Ontology
DOID:3652
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 20 in total
Gene ID Gene Symbol Description Source
1738 DLD dihydrolipoamide dehydrogenase
1890 TYMP thymidine phosphorylase
1892 ECHS1 enoyl-CoA hydratase, short chain 1
4360 MRC1 mannose receptor C-type 1
4967 OGDH oxoglutarate dehydrogenase
5160 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1
5162 PDHB pyruvate dehydrogenase E1 subunit beta
5226 PGD phosphogluconate dehydrogenase
5742 PTGS1 prostaglandin-endoperoxide synthase 1
6389 SDHA succinate dehydrogenase complex flavoprotein subunit A

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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