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Familial adenomatous polyposis 1
rareAn autosomal dominant disorder caused by pathogenic variants in the APC gene, characterized by the development of colorectal adenomatous polyposis, a very high risk of colorectal cancer and other extracolonic manifestations including both classic and attenuated familial adenomatous polyposis (FAP).
- Identifiers
- MONDO:0021056 OMIM:175100
- Causal genes
- APC
- Also known as
- adenoma, periampullary, somatic · APC-related adenomatous polyposis · FAP1
Subtypes
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