| H00666 | |
| H number | H00666 |
| Name | Peutz-Jeghers syndrome |
| Description | 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. |
| Category | Digestive system disease |
| Network | nt06522(H00666) mTOR signaling |
| Gene | STK11 [HSA:6794] [KO:K07298] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD2D.0 ICD-10: Q85.8 MeSH: D010580 OMIM: 175200 |
| Reference | PMID:20581245 AUTHORS 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 TITLE Peutz-Jeghers syndrome: a systematic review and recommendations for management. JOURNAL Gut 59:975-86 (2010) DOI:10.1136/gut.2009.198499 PMID:15863673 (STK11) AUTHORS Schumacher V, Vogel T, Leube B, Driemel C, Goecke T, Moslein G, Royer-Pokora B TITLE STK11 genotyping and cancer risk in Peutz-Jeghers syndrome. JOURNAL J Med Genet 42:428-35 (2005) DOI:10.1136/jmg.2004.026294 |