platelet-type bleeding disorder 3

Summary
Synonym
  • BDPLT3
  • PT-VWD
  • platelet type-von Willebrand disease
  • pseudo-von Willebrand disease
  • von Willebrand disease platelet-type
Definition
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.
Super Class
autosomal dominant disease blood platelet disease
External Links
Disease Ontology
DOID:0111056
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying all 5 entries
Gene ID Gene Symbol Description Source
28 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
821 CANX calnexin
2821 GPI glucose-6-phosphate isomerase
2923 PDIA3 protein disulfide isomerase family A member 3
23545 ATP6V0A2 ATPase H+ transporting V0 subunit a2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024