KEGG   DISEASE: H00666Help
Entry
H00666                      Disease                                

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
Gastrointestinal disease
BRITE hierarchy
Pathway
mTOR signaling pathway
Adipocytokine signaling pathway
Gene
STK11 [HSA:6794] [KO:K07298]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:20581245 (description, gene)
  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)
Reference
PMID:15121768 (description, gene)
  Authors
Amos CI, Keitheri-Cheteri MB, Sabripour M, Wei C, McGarrity TJ, Seldin MF, Nations L, Lynch PM, Fidder HH, Friedman E, Frazier ML
  Title
Genotype-phenotype correlations in Peutz-Jeghers syndrome.
  Journal
J Med Genet 41:327-33 (2004)
Reference
PMID:20051941 (description)
  Authors
van Lier MG, Wagner A, Mathus-Vliegen EM, Kuipers EJ, Steyerberg EW, van Leerdam ME
  Title
High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance  recommendations.
  Journal
Am J Gastroenterol 105:1258-64; author reply 1265 (2010)

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