familial adenomatous polyposis 2
ORPHA: 247798
Overview
familial adenomatous polyposis that has material basis in homozygous or compound heterozygous mutation in the MUTYH gene on chromosome 1p34
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 2, sourced from HPO and Orphanet clinical annotations.
Colorectal polyposisAdenomatous colonic polyposisLarge intestinal polyposisAdenocarcinoma of the colonRectal polyposisCongenital hypertrophy of retinal pigment epithelium
Classification & Codes
Orphanet Code
ORPHA:247798familial adenomatous polyposis 2
| Orphanet | ORPHA:247798 |
| Treatments | 0 drug(s) |
| Symptoms on record | 6 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO