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Attenuated familial adenomatous polyposis

Orpha number ORPHA220460
Synonym(s) AFAP
Attenuated FAP
Attenuated familial polyposis coli
Prevalence -
Inheritance Autosomal recessive
Autosomal dominant
Age of onset Adult
ICD-10
  • D12.6
ICD-O -
OMIM
UMLS
  • C2674616
MeSH
  • C538265
MedDRA -

Summary

Attenuated familial adenomatous polyposis (AFAP) is a mild form of familial adenomatous polyposis (FAP, see this term) characterized by the presence of fewer than 100 adenomatous polyposis, a more proximal colonic location, a delayed age of colorectal cancer (CRC) onset and a more limited expression of the extracolonic features. Three forms of AFAP may be distinguished: MUTYH-related attenuated familial adenomatous polyposis, APC-related attenuated familial adenomatous polyposis, and AXIN2-related attenuated familial adenomatous polyposis.


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Detailed information

Guidance for genetic testing
  • EN (2010,pdf)
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