Familial adenomatous polyposis 1
| Disorder | |
|---|---|
| OMIM #: | #175100 (Click to access OMIM database) |
| Disorder: | Familial adenomatous polyposis 1 |
| Also known as: | FAP1 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: | Autosomal dominant |
| Mutations | |
| 1 Unknown / Other Mennonite | |
| Gene: | APC |
| Base Change: | |
| Amino Acid Change: | Promoter 1A & 5'UTR deletion |
| Last updated: | 2023-02-01 |
| 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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