Amish, Mennonite, and Hutterite
Genetic Disorder Database

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:  
Mutations
1   Old Order Mennonite  
Gene: F11
Base Change: C>T, at nucleotide 1327
Amino Acid Change: arg 443 --> cys
Last updated: 2010-07-22 

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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