Amish, Mennonite, and Hutterite
Genetic Disorder Database

Plasminogen activator inhibitor-1 deficiency

Disorder
OMIM #: #613329  (Click to access OMIM database)
Disorder: Plasminogen activator inhibitor-1 deficiency 
Also known as: Hyperfibrinolysis due to PAI1 deficiency 
Clinical
Phenotype: Bleeding, bruising, hemophilia, bleeding disorder 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: SERPINE1
Base Change: c.699_700dupTA
Amino Acid Change:
Last updated: 2018-10-16 

References
Fay WP, Parker AC, Condrey LR, Shapiro AD. (1997) Human plasminogen activator inhibitor-1 (PAI-1) deficiency: characterization of a large kindred with a null mutation in the PAI-1 gene. Blood 90:204-208.
PubMed ID: 9207454 
Fay WP, Shapiro AD, Shih JL, Schleef RR, Ginsburg D. (1992) Brief report: complete deficiency of plasminogen-activator inhibitor type 1 due to a frame-shift mutation. N Engl J Med Dec 10;327(24):1729-33.
PubMed ID: 1435917 
Khan SS, Shah SJ, Klyachko E, Baldridge AS, Eren M, Place AT, Aviv A, Puterman E, Lloyd-Jones DM, Heiman M, Miyata T, Gupta S, Shapiro AD, Vaughan DE. (2017) A null mutation in SERPINE1 protects against biological aging in humans. Sci Adv Nov 15;3(11):eaao1617.
PubMed ID: 29152572 

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