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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
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 4537 | ND3 | NADH dehydrogenase subunit 3 | |
| 4540 | ND5 | NADH dehydrogenase subunit 5 | |
| 4720 | NDUFS2 | NADH:ubiquinone oxidoreductase core subunit S2 | |
| 6389 | SDHA | succinate dehydrogenase complex flavoprotein subunit A | |
| 6834 | SURF1 | SURF1 cytochrome c oxidase assembly factor | |
| 10128 | LRPPRC | leucine rich pentatricopeptide repeat containing |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q3TJA2 | Superoxide dismutase | |
| Q9CXZ1 | NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial | |
| Q9CZB0 | Succinate dehydrogenase cytochrome b560 subunit, mitochondrial |
