Pseudo-Von Willebrand Disease

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OMIM 57 177820 Disease Ontology 12 DOID:0111056 ICD10 33 D69.8 Orphanet 59 ORPHA52530 UMLS via Orphanet 74 C1280798

ICD10 via Orphanet 34 D69.8 MedGen 42 C1280798 MeSH 44 D014842 SNOMED-CT via HPO 69 263681008 UMLS 73 C1280798

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 52530Disease definitionPlatelet 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.Visit the Orphanet disease page for more resources.

MalaCards based summary : Pseudo-Von Willebrand Disease, also known as von willebrand disease, platelet-type, is related to von willebrand's disease and acquired von willebrand syndrome. An important gene associated with Pseudo-Von Willebrand Disease is GP1BA (Glycoprotein Ib Platelet Subunit Alpha), and among its related pathways/superpathways are Formation of Fibrin Clot (Clotting Cascade) and ECM-receptor interaction. Related phenotypes are prolonged bleeding time and intermittent thrombocytopenia

OMIM : ⁵⁷ Platelet-type von Willebrand disease, also known as pseudo-von Willebrand disease, is an autosomal dominant 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 (Murata et al., 1993). Miller (1996) gave a comprehensive review of the disorder. (177820)

UniProtKB/Swiss-Prot : ⁷⁵ Pseudo-von Willebrand disease: 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 : ¹² 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.

Clinical features from OMIM:

177820

Search Clinical Trials , NIH Clinical Center for Pseudo-Von Willebrand Disease

Search GEO for disease gene expression data for Pseudo-Von Willebrand Disease.