von Willebrand's disease 3

Summary
Synonym
  • VWD type 3
  • VWD3
  • von Willebrand disease type 3
  • von Willebrand disease type III
Definition
A von Willebrand's disease characterized by autosomal recessive inheritance of a severe quantitative defect or virtual absence of VWF in plasma, prolonged bleeding time, and more severe bleeding tendencies compared to the other types of von Willebrand disease that has_material_basis_in homozygous or compound heterozygous mutation in the VWF gene which maps to chromosome 12p13.
Super Class
von Willebrand's disease
External Links
Disease Ontology
DOID:0111054
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
570 BAAT bile acid-CoA:amino acid N-acyltransferase
6403 SELP selectin P
22908 SACM1L SAC1 like phosphatidylinositide phosphatase
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P16109 P-selectin

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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