| H01377 | |
| H番号 | H01377 |
| 名称 | Mitchell-Riley 症候群 |
| 概要 | Mitchell-Riley syndrome is a neonatal diabetes syndrome that involves abnormalities of the anterior gut as well as diabetes. Patients with this syndrome are typically diagnosed within the first week of life and generally die within their first year of life. Mutations in rfx6 have been associated with Mitchell-Riley syndrome. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | RFX6 [HSA:222546] [KO:K19521] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: KB60.2Y MeSH: C567570 OMIM: 615710 |
| 文献 | PMID:23914949 著者 Concepcion JP, Reh CS, Daniels M, Liu X, Paz VP, Ye H, Highland HM, Hanis CL, Greeley SA タイトル Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6. 雑誌 Pediatr Diabetes 15:67-72 (2014) DOI:10.1111/pedi.12063 PMID:21215266 著者 Pearl EJ, Jarikji Z, Horb ME タイトル Functional analysis of Rfx6 and mutant variants associated with neonatal diabetes. 雑誌 Dev Biol 351:135-45 (2011) DOI:10.1016/j.ydbio.2010.12.043 |