Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0021933 (
intussusception
)
3,822
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Peutz-Jeghers syndrome (PJS), also known as periorificial lentiginosis, is a rare autosomal dominant inherited disease with an incidence of 1/200,000 live-borns. Mutations in the
serine-threonine kinase
11 (STK11) gene are considered the major cause of PJS. The most frequent complication at young age is recurrent
intussusception
due to multiple hamartomatous polyps, primarily in the small intestine. Although extremely rare, the small bowel should be fully examined to be certain additional intussusceptions are not present. Herein, we report on a case of PJS with germline mutation of STK11 in a 12-year-old young girl who presented as a rare case of two small intestinal intussusceptions and review the literature.
...
PMID:Peutz-Jeghers syndrome with germline mutation of STK11. 2494 25
