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GTR Home > Conditions/Phenotypes > Pseudo von Willebrand disease

Pseudo von Willebrand disease

Synonyms
BLEEDING DISORDER, PLATELET-TYPE, 3; Platelet-type von Willebrand disease
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Platelet-type von Willebrand disease (VWDP), 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. [from OMIM]

Available tests

37 tests are in the database for this condition.

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Clinical tests (37 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BDPLT1, BDPLT3, BSS, CD42B, CD42b-alpha, DBPLT3, GP1B, GPIbA, GPIbalpha, VWDP, GP1BA
    Summary: glycoprotein Ib platelet subunit alpha

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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