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Attenuated familial adenomatous polyposis

Disease definition

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.

ORPHA:220460

  • Synonym(s):
    • AFAP
    • Attenuated FAP
    • Attenuated familial polyposis coli
  • Prevalence: -
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Adult
  • ICD-10: D12.6
  • OMIM: 175100  608456  612591  615083  616415
  • UMLS: C2674616
  • MeSH: C538265
  • GARD: 8532
  • MedDRA: -

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