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ENStorage Pool Platelet Disease
Alias:
Platelet Storage Pool Deficiency
Storage Pool Disease of Platelets
Platelet Dense Granule Deficiency
Platelet Storage Pool Defect
Dense Body Defect
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Storage Pool Platelet Disease, also known as platelet storage pool deficiency, is related to hermansky-pudlak syndrome 6 and hermansky-pudlak syndrome 9. An important gene associated with Storage Pool Platelet Disease is GFI1B (Growth Factor Independent 1B Transcriptional Repressor), and among its related pathways/superpathways are Vesicle-mediated transport and trans-Golgi Network Vesicle Budding. The drugs Pirfenidone and Pravastatin have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and bone, and related phenotypes are myelodysplasia and acute leukemia
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MALACARDS
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