Factor 11 deficiency
| Disorder | |
|---|---|
| OMIM #: | #612416 (Click to access OMIM database) |
| Disorder: | Factor 11 deficiency |
| Also known as: | F11 DEFICIENCY, PLASMA THROMBOPLASTIN ANTECEDENT DEFICIENCY, PTA DEFICIENCY, ROSENTHAL SYNDROME |
| Clinical | |
| Phenotype: | other bleeding tendency, menorrhagia, bleeding with dental procedures, excessive bleeding with circumcision |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant/recessive |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | F11 |
| Base Change: | C>T, at nucleotide 1327 |
| Amino Acid Change: | arg 443 --> cys |
| Last updated: | 2022-11-03 |
| References |
|---|
| Strauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36. PubMed ID: 19630565 |
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