| H01133 | |
| H番号 | H01133 |
| 名称 | Reynolds 症候群 |
| 概要 | Reynolds syndrome is a rare disease associating primary biliary cirrhosis (PBC) and systemic scleroderma (SSc). It is typically classified as an autoimmune disorder since there are specific autoantibodies associated with both facets of the disease (antimitochondrial antibodies for PBC and anticentromere/antitopoisomerase for SSc), and suggestive microscopical abnormalities in the skin and liver. A mutation in the Lamin B receptor gene has been discovered in the white blood cells, suggesting that nuclear signalling defects could be a cause in Reynolds syndrome. |
| カテゴリ | 免疫系疾患 |
| ネットワーク | - |
| 病因遺伝子 | LBR [HSA:3930] [KO:K19532] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 4A43.Y ICD-10: K74.5 L94.0 OMIM: 613471 |
| 文献 | PMID:20800400 著者 Cabane J タイトル Is Reynolds syndrome a genetic laminopathy? 雑誌 Gastroenterol Clin Biol 34:509-10 (2010) DOI:10.1016/j.gcb.2010.07.008 PMID:20522425 著者 Gaudy-Marqueste C, Roll P, Esteves-Vieira V, Weiller PJ, Grob JJ, Cau P, Levy N, De Sandre-Giovannoli A タイトル LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome. 雑誌 J Med Genet 47:361-70 (2010) DOI:10.1136/jmg.2009.071696 |