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pseudo-von Willebrand disease

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder 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.
Uniprot Description A bleeding disorder characterized by abnormally enhanced binding of von Willebrand factor by the platelet glycoprotein Ib (GP Ib) receptor complex. Hemostatic function is impaired due to the removal of VWF multimers from the circulation.
Disease Ontology Description A inherited blood coagulation disease characterized by enhanced binding of von Willebrand factor by the platelet glycoprotein Ib receptor complex that has material basis in mutation in the GP1BA gene on chromosome 17p13.2.
Mondo Term and Equivalent IDs
MONDO:0008332:  pseudo-von Willebrand disease
GARD:0008312: 
MESH:C536458: 
NCIT:C131681: 
Orphanet:52530: