KEGG   DISEASE: Peutz-Jeghers syndrome
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
Digestive system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2D  Phakomatoses or hamartoneoplastic syndromes
    H00666  Peutz-Jeghers syndrome
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06522  mTOR signaling
   H00666  Peutz-Jeghers syndrome
Pathway
hsa04150  mTOR signaling pathway
hsa04920  Adipocytokine signaling pathway
Network
nt06522 mTOR signaling
Gene
STK11 [HSA:6794] [KO:K07298]
Other DBs
ICD-11: LD2D.0
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
Reference
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

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   OMIM (1)   
All databases (1)   

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