| H01354 | |
| H number | H01354 |
| Name | Leigh syndrome |
| Description | Leigh syndrome is a severe neurological disorder, characterized by bilaterally symmetrical necrotic lesions in the basal ganglia and brainstem. Most frequently the central nervous system is affected, with psychomotor retardation, seizures, nystagmus, optic atrophy, ataxia, or respiratory failure. Some patients also present with peripheral nervous system involvement or non-neurologic abnormalities. In the majority of cases, dysfunction of the mitochondrial respiratory chain complex or of the pyruvate dehydrogenase complex are responsible for the disease. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. |
| Category | Inherited metabolic disorder, Mitochondrial disease |
| Network | - |
| Gene | NDUFS3 [HSA:4722] [KO:K03936] NDUFS4 [HSA:4724] [KO:K03937] NDUFS7 [HSA:374291] [KO:K03940] NDUFS8 [HSA:4728] [KO:K03941] NDUFA2 [HSA:4695] [KO:K03946] NDUFA9 [HSA:4704] [KO:K03953] NDUFA10 [HSA:4705] [KO:K03954] NDUFA12 [HSA:55967] [KO:K11352] NDUFAF2 [HSA:91942] [KO:K18160] NDUFAF6 [HSA:137682] [KO:K18163] FOXRED1 [HSA:55572] [KO:K18166] SDHA [HSA:6389] [KO:K00234] COX10 [HSA:1352] [KO:K02257] COX15 [HSA:1355] [KO:K02259] SURF1 [HSA:6834] [KO:K14998] BCS1L [HSA:617] [KO:K08900] TACO1 [HSA:51204] [KO:K18189] (LSFC) LRPPRC [HSA:10128] [KO:K17964] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C53.24 ICD-10: G31.8 MeSH: D007888 OMIM: 256000 220111 |
| Reference | PMID:18805359 AUTHORS Finsterer J TITLE Leigh and Leigh-like syndrome in children and adults. JOURNAL Pediatr Neurol 39:223-35 (2008) DOI:10.1016/j.pediatrneurol.2008.07.013 PMID:21150889 AUTHORS Hoefs SJ, van Spronsen FJ, Lenssen EW, Nijtmans LG, Rodenburg RJ, Smeitink JA, van den Heuvel LP TITLE NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease. JOURNAL Eur J Hum Genet 19:270-4 (2011) DOI:10.1038/ejhg.2010.204 PMID:23389837 AUTHORS Mermigkis C, Bouloukaki I, Mastorodemos V, Plaitakis A, Alogdianakis V, Siafakas N, Schiza S TITLE Medical treatment with thiamine, coenzyme Q, vitamins E and C, and carnitine improved obstructive sleep apnea in an adult case of Leigh disease. JOURNAL Sleep Breath 17:1129-35 (2013) DOI:10.1007/s11325-013-0816-5 PMID:19503089 AUTHORS Weraarpachai W, Antonicka H, Sasarman F, Seeger J, Schrank B, Kolesar JE, Lochmuller H, Chevrette M, Kaufman BA, Horvath R, Shoubridge EA TITLE Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. JOURNAL Nat Genet 41:833-7 (2009) DOI:10.1038/ng.390 |