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familial adenomatous polyposis

MIM.175100 5q21-q22

adenomatous polyposis, FAP

 

Autosomal dominant tumor predisposition syndrome.

Synopsis

-  congenital hypertrophy of retinal pigment epithelium (CHRPE)
-  supernumerary teeth
-  unerupted teeth
-  dental caries
-  odontomas
-  mammary fibrosis
-  multiple colonic adenomatous polyps
-  multiple gastric polyps
-  multiple duodenal polyps
-  mesenteric fibromatosis
-  skull osteomas, especially involving the mandibular angle
-  endosteal and exosteal osteomas
-  epidermoid inclusion cysts
-  fibromas
-  lipomas
-  lipofibromas
-  increased skin pigmentation
-  keloids

-  tumors

References

-  Fodde R, Smits R. Disease model: familial adenomatous polyposis. Trends Mol Med. 2001 Aug;7(8):369-73. PMID: #11516998#

-  Fearnhead NS, Britton MP, Bodmer WF. The ABC of APC. Hum Mol Genet. 2001 Apr;10(7):721-33. PMID: #11257105#


Colonic adenomatous polyposis. 1

Colonic adenomatous polyposis. 2

Colonic adenomatous polyposis. 3

Colonic adenomatous polyposis. 4

Tubulous microadenoma in FAP

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