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
Disease Ontology
DOID:3652
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 7 entries
Gene ID Gene Symbol Description Source
4537 ND3 NADH dehydrogenase subunit 3
4540 ND5 NADH dehydrogenase subunit 5
6389 SDHA succinate dehydrogenase complex flavoprotein subunit A
6391 SDHC succinate dehydrogenase complex subunit C
6648 SOD2 superoxide dismutase 2
6834 SURF1 SURF1 cytochrome c oxidase assembly factor
10128 LRPPRC leucine rich pentatricopeptide repeat containing
Displaying all 6 entries
Gene ID Gene Symbol Description Source
17721 ND5 NADH dehydrogenase subunit 5
17993 Ndufs4 NADH:ubiquinone oxidoreductase core subunit S4
20656 Sod2 superoxide dismutase 2, mitochondrial
66052 Sdhc succinate dehydrogenase complex, subunit C, integral membrane protein
72416 Lrpprc leucine-rich PPR-motif containing
225887 Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8
Displaying all 8 entries
Gene ID Gene Symbol Description Source
24787 Sod2 superoxide dismutase 2
157074 Sdha succinate dehydrogenase complex flavoprotein subunit A
192241 Atp5po ATP synthase peripheral stalk subunit OSCP
289218 Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2
293652 Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8
316632 Ndufa10l1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex 10-like 1
499529 Ndufs4 NADH:ubiquinone oxidoreductase subunit S4
678759 Ndufa10 NADH:ubiquinone oxidoreductase subunit A10

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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