von Willebrand's disease

Summary
Synonym
  • vascular hemophilia
  • vascular pseudohemophilia
  • von Willebrand disease
  • von Willebrand disorder
  • von Willebrand's-Jurgens' disease
  • von Willebrand-Jrgens disease
Definition
A blood coagulation disease that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion.
Super Class
blood coagulation disease
External Links
Disease Ontology
DOID:12531
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 12 in total
Gene ID Gene Symbol Description Source
28 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
37 ACADVL acyl-CoA dehydrogenase very long chain
570 BAAT bile acid-CoA:amino acid N-acyltransferase
821 CANX calnexin
2821 GPI glucose-6-phosphate isomerase
2923 PDIA3 protein disulfide isomerase family A member 3
3030 HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
6403 SELP selectin P
10855 HPSE heparanase
22908 SACM1L SAC1 like phosphatidylinositide phosphatase

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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