Von Willebrand disease
| Disorder | |
|---|---|
| OMIM #: | #193400 (Click to access OMIM database) |
| Disorder: | Von Willebrand disease |
| Also known as: | VON WILLEBRAND DISEASE, TYPE I VWD, TYPE 1 |
| Clinical | |
| Phenotype: | hemorrhage, recurrent bleeding tendency, decreased plasma factor VIII levels, decreased plasma von Willebrand factor levels, platelet defect |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant |
| Mutations | |
| 1 Amish | |
| Gene: | VWF |
| Base Change: | C>T, at nucleotide 4120 |
| Amino Acid Change: | arg 1374 --> cys |
| Last updated: | 2022-11-12 |
| References |
|---|
| Di Paola JMJ, Lentz S, Montgomery R et al. (2005) A missense mutation in exon 28 (C4120T) of the von Willebrand factor gene is the cause for von Willebrand disease in a large Amish pedigree. J Thromb Haemost 3 (Suppl.1): P1472. |
| Gupta S, Heiman M, Duncan N, Hinckley J, Di Paola J, Shapiro AD. (2016) Variable bleeding phenotype in an Amish pedigree with von Willebrand disease. Am J Hematol Oct;91(10):E431-5. PubMed ID: 27414491 |
| Sharthkumar A, Greist A, Di Paola J, Winay J, Roberson C, Heiman M, Herbert S, Parameswaran R, Shapiro A. (2008) Biologic response to subcutaneous and intranasal therapy with desmopressin in a large Amish kindred with Type 2M von Willebrand disease. Haemophilia 14:539-548. PubMed ID: 18312368 |
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