Desmoid disease, hereditary
| Disorder | |
|---|---|
| OMIM #: | #135290 (Click to access OMIM database) |
| Disorder: | Desmoid disease, hereditary |
| Also known as: | Fibromatosis, familial infiltrative |
| Clinical | |
| Phenotype: | familial adenomatous polyposis, adenocarinoma, desmoid tumors, duodenal adenomas, epidermoid cysts, gastric fundic gland polyps, osteomata, somatic mosaicism, congenital hypertrophy of the retinal pigment epithelium |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant |
| Mutations | |
| 1 Amish | |
| Gene: | APC |
| Base Change: | insertion of Alu 1 sequence at nt337, at nucleotide 1526 |
| Amino Acid Change: | |
| Last updated: | 2022-11-03 |
| References |
|---|
| Halling KC, Lazzaro CR, Honchel R, Bufill JA, Powell SM, Arndt CA, Lindor NM. (1999) Hereditary desmoid disease in a family with a germline Alu I repeat mutation of the APC gene. Hum. Hered. 49:97-102. PubMed ID: 10077730 |
| Yen T, Stanich PP, Axell L, Patel SG. (1998) APC-Associated Polyposis Conditions. GeneReviews 7-14. |
Back