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von Willebrand disease 2

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description Type 2 von Willebrand disease (type 2 VWD) is a form of VWD characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF).
Uniprot Description A hemorrhagic disorder due to defects in von Willebrand factor protein and resulting in altered platelet aggregation. Von Willebrand disease type 2 is characterized by qualitative deficiency and functional anomalies of von Willebrand factor. It is divided in different subtypes including 2A, 2B, 2M and 2N (Normandy variant). The mutant VWF protein in types 2A, 2B and 2M are defective in their platelet-dependent function, whereas the mutant protein in type 2N is defective in its ability to bind factor VIII. Clinical manifestations are mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma.
Disease Ontology Description A von Willebrand's disease characterized by qualitative but not quantitative abnormalities of the VWF protein that has material_basis_in mutation in the VWF gene which maps to chromosome 12p13.
Mondo Term and Equivalent IDs
MONDO:0013304:  von Willebrand disease 2
MESH:D056728: 
Orphanet:166081: 
SCTID:128107007: 
UMLS:C1264040: