loading...| Preferred Name | LEIGH SYNDROME | |
| Synonyms |
NECROTIZING ENCEPHALOPATHY, INFANTILE SUBACUTE, OF LEIGH SNE LS |
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| ID |
http://purl.bioontology.org/ontology/OMIM/256000 |
|
| altLabel |
NECROTIZING ENCEPHALOPATHY, INFANTILE SUBACUTE, OF LEIGH SNE LS |
|
| cui |
C2931891 C0023264 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU000300 http://purl.bioontology.org/ontology/OMIM/MTHU036754 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU036657 http://purl.bioontology.org/ontology/OMIM/MTHU010762 http://purl.bioontology.org/ontology/OMIM/MTHU000317 http://purl.bioontology.org/ontology/OMIM/MTHU000964 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU000389 http://purl.bioontology.org/ontology/OMIM/MTHU023116 http://purl.bioontology.org/ontology/OMIM/MTHU036384 http://purl.bioontology.org/ontology/OMIM/MTHU000509 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU004739 http://purl.bioontology.org/ontology/OMIM/MTHU001725 http://purl.bioontology.org/ontology/OMIM/MTHU036360 http://purl.bioontology.org/ontology/OMIM/MTHU036678 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU000196 http://purl.bioontology.org/ontology/OMIM/MTHU000140 http://purl.bioontology.org/ontology/OMIM/MTHU000153 http://purl.bioontology.org/ontology/OMIM/MTHU008498 |
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| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
256000 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
LEIGH SYNDROME |
|
| Scope Statement |
Caused by mutation in the NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 2 gene (NDUFA2, 602137.0001) [MOLECULAR BASIS] Onset usually in infancy or early childhood [MISCELLANEOUS] Caused by mutation in the translational activator of mitochondrially encoded cytochrome c oxidase subunit 1 gene (TACO1, 612958.0001) [MOLECULAR BASIS] Caused by mutation in the mitochondrial tRNA (valine) gene (MTTV, 590105.0002) [MOLECULAR BASIS] Caused by mutation in the succinate dehydrogenase complex, subunit A, flavoprotein gene (SDHA, 600857.0001) [MOLECULAR BASIS] Caused by mutation in the mitochondrial tRNA (lysine) gene (MTTK, 590060.0001) [MOLECULAR BASIS] Caused by mutation in the mitochondrial methionyl-tRNA formyltransferase gene (MTFMT, 611766.0001) [MOLECULAR BASIS] Caused by mutation in the cytochrome c oxidase, subunit 15 gene (COX15, 603646.0001) [MOLECULAR BASIS] Caused by mutation in the ATP synthase 6 gene (MTATP6, 516060.0001) [MOLECULAR BASIS] Subset of patients have cytochrome c oxidase deficiency (see 220110) [MISCELLANEOUS] Caused by mutation in the homolog of the S. cerevisiae PET100 gene (PET100, 614770.0001). [MOLECULAR BASIS] See also X-linked Leigh syndrome (312170) [MISCELLANEOUS] Caused by mutation in the NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 10 gene (NDUFA10, 603835.0001) [MOLECULAR BASIS] Caused by mutation in the BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone gene (BCS1L, 603647.0002) [MOLECULAR BASIS] Caused by mutation in the FAD-dependent oxidoreductase domain-containing protein 1 gene (FOXRED1, 613622.0001) [MOLECULAR BASIS] Caused by mutation in the NADH dehydrogenase (ubiquinone) Fe-S protein 8 gene (NDUFS8, 602141.0001) [MOLECULAR BASIS] Caused by mutation in the NADH dehydrogenase, subunit 6 gene (MTND6, 516006.0002) [MOLECULAR BASIS] Caused by mutation in the C8ORF38 gene (C8ORF38, 612392.0001) [MOLECULAR BASIS] Caused by mutation in the NADH dehydrogenase, subunit 5 gene (MTND5, 516005.0003) [MOLECULAR BASIS] Caused by mutation in the NADH dehydrogenase (ubiquinone) Fe-S protein 4 gene (NDUFS4, 602694.0004) [MOLECULAR BASIS] Caused by mutation in the surfeit-1 gene (SURF1, 185620.0001) [MOLECULAR BASIS] Caused by mutation in the NADH dehydrogenase (ubiquinone) complex I, assembly factor 5 gene (NDUFAF5, 612360.0002) [MOLECULAR BASIS] Caused by mutation in the cytochrome c oxidase III gene (MTCO3, 516050.0005) [MOLECULAR BASIS] Caused by mutation in the NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 12 gene (NDUFA12, 614530.0001) [MOLECULAR BASIS] Caused by mutation in the NADH dehydrogenase (ubiquinone) Fe-S protein 7 gene (NDUFS7, 601825.0001) [MOLECULAR BASIS] See also French-Canadian type of Leigh syndrome (220111) [MISCELLANEOUS] Caused by mutation in the NADH-ubiquinone oxidoreductase 1 alpha subcomplex 9 gene (NDUFA9, 603834.0001) [MOLECULAR BASIS] Genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes) [MISCELLANEOUS] Progressive disorder, usually with rapid, relentless course [MISCELLANEOUS] Clinical heterogeneity [MISCELLANEOUS] Caused by mutation in the NADH dehydrogenase, subunit 3 gene (MTND3, 516002.0003) [MOLECULAR BASIS] Caused by mutation in the NADH dehydrogenase (ubiquinone) Fe-S protein 3 gene (NDUFV3, 603846.0001) [MOLECULAR BASIS] Caused by mutation in the NADH dehydrogenase (ubiquinone) Fe-S protein 1 gene (NDUFS1, 157655.0001) [MOLECULAR BASIS] Caused by mutation in the NADH dehydrogenase, subunit 2 gene (MTND2, 516001.0006) [MOLECULAR BASIS] |
|
| tui |
T047 |