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: | recurrent bleeding tendencies, bruising, hemophilia, bleeding disorder |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive, Autosomal dominant |
| Mutations | |
| 1 Amish | |
| Gene: | SERPINE1 |
| Base Change: | c.699_700dupTA |
| Amino Acid Change: | |
| Last updated: | 2022-11-15 |
| 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 |
| Khan SS, Shah SJ, Strande JL, Baldridge AS, Flevaris P, Puckelwartz MJ, McNally EN, Rasmussen-Torvik LJ, Lee DC, Carr JC, Benefield BC, Afzal MZ, Heiman M, Gupta S, Shapiro AD, Vaughan DE. (2021) Identification of Cardiac Fibrosis in Young Adults With a Homozygous Frameshift Variant in SERPINE1. JAMA Cardiol Jan 13:e206909. PubMed ID: 33439236 |
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