Glanzmann Thrombasthenia
| Disorder | |
|---|---|
| OMIM #: | #273800 (Click to access OMIM database) |
| Disorder: | Glanzmann Thrombasthenia |
| Also known as: | BLEEDING DISORDER, PLATELET-TYPE, 2 BDPLT2 THROMBASTHENIA OF GLANZMANN AND NAEGELI PLATELET GLYCOPROTEIN IIb-IIIa DEFICIENCY, DEFICIENCY OF GP IIb-IIIa COMPLEX, DEFICIENCY OF PLATELET FIBRINOGEN RECEPTOR, DEFICIENCY OF GLYCOPROTEIN COMPLEX IIb-IIIa |
| Clinical | |
| Phenotype: | hyphen, epistaxis, petechiae, purpura, gastrointestinal hemorrhage. excessive bruising, hemarthroses, hematoma, ecchymoses, menorrhagia, hematuria, other bleeding tendency |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | |
| Mutations | |
| 1 Unknown / Other Mennonite | |
| Gene: | ITGA2B |
| Base Change: | C>G, at nucleotide 526 |
| Amino Acid Change: | pro 176 --> ala |
| Last updated: | 2022-11-04 |
| References |
|---|
| Basani R, French D, Vilaire G, Brown D, Chen F, Coller B, Derrick J, Gartner T, Bennett J, and Poncz M. (2000) A naturally occurring mutation near the amino terminus of alphaIIb3 defines a new region involved in ligand binding to alphaIIbbeta3. Blood 95(1): 180-188. PubMed ID: 10607701 |
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