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