Amish, Mennonite, and Hutterite
Genetic Disorder Database

Familial adenomatous polyposis 1 (FAP1)

Disorder
OMIM #: #175100  (Click to access OMIM database)
Disorder: Familial adenomatous polyposis 1 (FAP1) 
Also known as: ADENOMATOUS POLYPOSIS OF THE COLON
APC FAMILIAL POLYPOSIS OF THE COLON
FPC POLYPOSIS, ADENOMATOUS INTESTINAL 
Clinical
Phenotype: Colon cancer, Intestinal polyps, CHRPE Sebaceous cysts, Dermoid cysts, Dental anomalies, Extra-intestinal tumors 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Unknown / Other Mennonite  
Gene: APC
Base Change:
Amino Acid Change: Promoter 1A & 5'UTR deletion
Last updated: 2017-11-03 

References
Charames GS, Ramyar L, Mitri A, Berk T, Cheng H, Jung J, Bocangel P, Chodirker B, Greenberg C, Spriggs E, Bapat B.. (2008) A large novel deletion in the APC promoter region causes gene silencing and leads to classical familial adenomatous polyposis in a Manitoba Mennonite kindred. Hum Genet 124:535-541.
PubMed ID: 18982352 

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