Pseudo-Von Willebrand Disease (VWDP)

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Disease Ontology 12 DOID:0111056 OMIM® 57 177820 OMIM Phenotypic Series 57 PS231200 KEGG 36 H02093 MeSH 44 D014842 ICD10 32 D69.8

ICD10 via Orphanet 33 D69.8 UMLS via Orphanet 71 C1280798 Orphanet 58 ORPHA52530 MedGen 41 C1280798 SNOMED-CT via HPO 68 263681008 UMLS 70 C1280798

KEGG : ³⁶ Platelet-type von Willebrand disease (PT-VWD) is an autosomal dominant bleeding disorder caused by gain-of-function mutations of GP1BA gene coding for the platelet surface glycoprotein Ib alpha protein, the receptor for the adhesive protein von Willebrand factor (VWF). PT-VWD is unique among platelet disorders because of platelet hyperresponsiveness rather than decreased function. In PT-VWD patients, platelets bind the VWF and agglutinate spontaneously. This results in thrombocytopenia and reduction of plasma VWF as platelets are removed from circulation. Of note, there is a very similar disorder, type 2B von Willebrand disease (VWD) [DS:H02092], to be taken into consideration in differential diagnosis.

MalaCards based summary : Pseudo-Von Willebrand Disease, also known as von willebrand disease, platelet-type, is related to purpura and von willebrand's disease. An important gene associated with Pseudo-Von Willebrand Disease is GP1BA (Glycoprotein Ib Platelet Subunit Alpha), and among its related pathways/superpathways are Platelet activation and Response to elevated platelet cytosolic Ca2+. Affiliated tissues include bone and kidney, and related phenotypes are prolonged bleeding time and intermittent thrombocytopenia

Disease Ontology : ¹² A blood platelet 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.

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 52530 Definition 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.

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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : ⁷² 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.

Clinical features from OMIM®:

177820 (Updated 20-May-2021)

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

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