has material basis in germline mutation in GP1BA inherited bleeding disorder, platelet-type platelet-type von Willebrand disease https://github.com/monarch-initiative/mondo/issues/5623 https://github.com/monarch-initiative/mondo/issues/9994 https://www.malacards.org/card/von_willebrand_disease_platelet_type A bleeding disorder caused by a variation in the GP1BA gene that increases the affinity of platelet GPIbα for von Willebrand factor (vWF), characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia. Diagnostic laboratory findings include enhanced ristocetin‑induced agglutination and features that mimic type 2B VWD despite a primary platelet defect. Functional studies in human platelets demonstrate abnormally increased vWF binding and hyperresponsiveness, consistent with enhanced GPIbα‑vWF interactions described in patient cells. GARD:0008312 Editor note: check relationship to vWD MONDO:0008332 platelet-type von Willebrand disease Von Willebrand disease, platelet type OMIM:177820 Orphanet:52530 PT-VWD UMLS:C1280798 platelet type-von Willebrand disease pseudo-von Willebrand disease type 2B NANDO:2200668 MEDGEN:226914 VWDP pseudo-von Willebrand disease NCIT:C131681 DOID:0111056 BDPLT3 MESH:C536458 hereditary von Willebrand disease