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von Willebrand disease 3

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII).
Uniprot Description A severe hemorrhagic disorder due to a total or near total absence of von Willebrand factor in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII. Bleeding usually starts in infancy and can include epistaxis, recurrent mucocutaneous bleeding, excessive bleeding after minor trauma, and hemarthroses.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0010191:  von Willebrand disease 3
MESH:D056729: 
NCIT:C85213: 
Orphanet:166096: 
SCTID:128108002: 
UMLS:C1264041: