| H01355 | |
| H number | H01355 |
| Name | Kearns-Sayre syndrome |
| Description | Kearns-Sayre Syndrome is a multisystem disorder characterized by ophthalmoplegia, pigmentary retinopathy, heart block, and cerebellar ataxia. This disease is caused by various large-scale deletions of mitochondrial DNA. |
| Category | Inherited metabolic disorder |
| Network | - |
| Gene | MT-ATP6 [HSA:4508] [KO:K02126] MT-ATP8 [HSA:4509] [KO:K02125] MT-CO3 [HSA:4514] [KO:K02262] MT-CYB [HSA:4519] [KO:K00412] MT-ND3 [HSA:4537] [KO:K03880] MT-ND4 [HSA:4538] [KO:K03881] MT-ND4L [HSA:4539] [KO:K03882] MT-ND5 [HSA:4540] [KO:K03883] MT-ND6 [HSA:4541] [KO:K03884] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 9C82.0 ICD-10: H49.8 MeSH: D007625 OMIM: 530000 |
| Reference | PMID:23421922 AUTHORS Obara-Moszynska M, Maceluch J, Bobkowski W, Baszko A, Jaremba O, Krawczynski MR, Niedziela M TITLE A novel mitochondrial DNA deletion in a patient with Kearns-Sayre syndrome: a late-onset of the fatal cardiac conduction deficit and cardiomyopathy accompanying long-term rGH treatment. JOURNAL BMC Pediatr 13:27 (2013) DOI:10.1186/1471-2431-13-27 PMID:9727847 AUTHORS Boles RG, Roe T, Senadheera D, Mahnovski V, Wong LJ TITLE Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease. JOURNAL Eur J Pediatr 157:643-7 (1998) DOI:10.1007/s004310050902 |