Amish, Mennonite, and Hutterite
Genetic Disorder Database

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, Bleeding, Factor VIII, Von Willebrand factor, Platelet defect 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: VWF
Base Change: C>T, at nucleotide 4120
Amino Acid Change: arg 1374 --> cys
Last updated: 2018-12-11 

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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