Conditions / Genetic

familial adenomatous polyposis 1

info ยท Genetic

A familial adenomatous polyposis that is characterized by predisposition to cancer and that has_material_basis_in heterozygous mutation in the APC gene on chromosome 5q22. Affected individuals usually develop hundreds to thousands of adenomatous polyps of the

A familial adenomatous polyposis that is characterized by predisposition to cancer and that has_material_basis_in heterozygous mutation in the APC gene on chromosome 5q22. Affected individuals usually develop hundreds to thousands of adenomatous polyps of the colon and rectum, a small proportion of which will progress to colorectal carcinoma if not surgically treated.

Signs and symptoms

  • Adenomatous colonic polyposis
  • Congenital hypertrophy of retinal pigment epithelium
  • Duodenal polyposis
  • Multiple gastric polyps
  • Multiple lipomas
  • Carcinoma
  • Odontoma
  • Hyperpigmentation of the skin
  • Astrocytoma
  • Keloids

Also known as: adenocarcinoma in adenomatous polyposis coli