H01355 | |
H番号 | H01355 |
名称 | カーンズ・セイアー症候群 |
概要 | 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. |
カテゴリ | 先天性代謝異常症 |
ネットワーク | - |
病因遺伝子 | 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] |
病原体 | - |
環境要因 | - |
発癌物質 | - |
治療薬 | - |
コメント | - |
リンク | ICD-11: 9C82.0 ICD-10: H49.8 MeSH: D007625 OMIM: 530000 |
文献 | PMID:23421922 著者 Obara-Moszynska M, Maceluch J, Bobkowski W, Baszko A, Jaremba O, Krawczynski MR, Niedziela M タイトル 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. 雑誌 BMC Pediatr 13:27 (2013) DOI:10.1186/1471-2431-13-27 PMID:9727847 著者 Boles RG, Roe T, Senadheera D, Mahnovski V, Wong LJ タイトル Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease. 雑誌 Eur J Pediatr 157:643-7 (1998) DOI:10.1007/s004310050902 |