| H00666 | |
| H番号 | H00666 |
| 名称 | ポイツ・ジェーガーズ症候群 |
| 概要 | Peutz-Jeghers syndrome (PJS) is an autosomal dominant condition in which multiple characteristic polyps occur throughout the gastrointestinal tract. Mucocutaneous pigmented lesions, especially of the vermilion border of the lips, are seen in almost all patients. PJS patients have a considerably increased risk of developing intestinal malignancies. The only known cause for PJS is STK11 mutation. |
| カテゴリ | 消化器系疾患 |
| ネットワーク | nt06522(H00666) mTOR signaling |
| 病因遺伝子 | STK11 [HSA:6794] [KO:K07298] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD2D.0 ICD-10: Q85.8 MeSH: D010580 OMIM: 175200 |
| 文献 | PMID:20581245 著者 Beggs AD, Latchford AR, Vasen HF, Moslein G, Alonso A, Aretz S, Bertario L, Blanco I, Bulow S, Burn J, Capella G, Colas C, Friedl W, Moller P, Hes FJ, Jarvinen H, Mecklin JP, Nagengast FM, Parc Y, Phillips RK, Hyer W, Ponz de Leon M, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Tejpar S, Thomas HJ, Wijnen JT, Clark SK, Hodgson SV タイトル Peutz-Jeghers syndrome: a systematic review and recommendations for management. 雑誌 Gut 59:975-86 (2010) DOI:10.1136/gut.2009.198499 PMID:15863673 (STK11) 著者 Schumacher V, Vogel T, Leube B, Driemel C, Goecke T, Moslein G, Royer-Pokora B タイトル STK11 genotyping and cancer risk in Peutz-Jeghers syndrome. 雑誌 J Med Genet 42:428-35 (2005) DOI:10.1136/jmg.2004.026294 |