familial adenomatous polyposis
ICD-10: C18MeSH: D011125ORPHA: 733
Overview
autosomal dominant disease that is has material basis in mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with familial adenomatous polyposis, sourced from HPO and Orphanet clinical annotations.
PilomatrixomaBrain neoplasmSoft tissue neoplasmAdenocarcinoma of the small intestineNeoplasm of the gallbladderThyroiditisEpidermoid cystColon cancerAdenomatous colonic polyposisNeoplasm of the gastrointestinal tractCongenital hypertrophy of retinal pigment epitheliumGastrointestinal desmoid tumorColorectal polyposisAbnormality of the dentitionDiarrheaConstipationMultiple gastric polypsDuodenal polyposisThyroid noduleOsteomaEruption failureAbnormality of the thyroid glandPapillary thyroid carcinomaDuodenal adenocarcinomaAdrenocortical adenomaAngiofibromasOdontomaSupernumerary toothNeoplasm of the adrenal glandAbnormal cementum morphologyHypothyroidismGoiterPancreatitisHepatoblastomaMedulloblastomaEpendymomaPituitary adenomaBiliary tract obstructionPancreatic adenocarcinomaAstrocytomaFibromaLocalized skin lesionLipomaStomach cancerCholangiocarcinoma
Classification & Codes
ICD-10 Code
C18MeSH Code
D011125Orphanet Code
ORPHA:733familial adenomatous polyposis
| ICD-10 | C18 |
| MeSH | D011125 |
| Orphanet | ORPHA:733 |
| Treatments | 0 drug(s) |
| Symptoms on record | 45 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO