Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0740577 (acute abdominal pain)
 1,982 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 14-year-old boy presented with acute abdominal pain, vomiting and diarrhoea. Colo-colic intussusception was diagnosed by means of a colonic contrast X-ray. The intussusception was successfully reduced during this procedure. Hundreds of polyps were seen throughout the entire colon. Genetic research showed a mutation of the MutYH gene. Proctocolectomy with ileoanal pouch anastomosis was carried out. The pathology specimen showed an intramucosal carcinoma and multiple adenomas. MutYH-associated polyposis coli is an autosomal recessive disease that occurs as a result of a mutation in the MutYH gene. This will lead to polyposis coli. An intussusception is a rarely seen symptom. Patients need preventive surgical treatment because of the high risk developing a colorectal carcinoma.
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PMID:[A colo-colic invagination on the basis of MutYH-associated polyposis in a boy aged 14]. 1824 Jul 62