Biomaterial Database

von Willebrand's variants. 1993

C A Ludlam, and C M Steel

Department of Haematology, Royal Infirmary, Edinburgh, UK.

UI	MeSH Term	Description	Entries
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D006579	Heterozygote	An individual having different alleles at one or more loci regarding a specific character.	Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014644	Genetic Variation	Genotypic differences observed among individuals in a population.	Genetic Diversity,Variation, Genetic,Diversity, Genetic,Diversities, Genetic,Genetic Diversities,Genetic Variations,Variations, Genetic
D014841	von Willebrand Factor	A high-molecular-weight plasma protein, produced by endothelial cells and megakaryocytes, that is part of the factor VIII/von Willebrand factor complex. The von Willebrand factor has receptors for collagen, platelets, and ristocetin activity as well as the immunologically distinct antigenic determinants. It functions in adhesion of platelets to collagen and hemostatic plug formation. The prolonged bleeding time in VON WILLEBRAND DISEASES is due to the deficiency of this factor.	Factor VIII-Related Antigen,Factor VIIIR-Ag,Factor VIIIR-RCo,Plasma Factor VIII Complex,Ristocetin Cofactor,Ristocetin-Willebrand Factor,von Willebrand Protein,Factor VIII Related Antigen,Factor VIIIR Ag,Factor VIIIR RCo,Ristocetin Willebrand Factor
D014842	von Willebrand Diseases	Group of hemorrhagic disorders in which the VON WILLEBRAND FACTOR is either quantitatively or qualitatively abnormal. They are usually inherited as an autosomal dominant trait though rare kindreds are autosomal recessive. Symptoms vary depending on severity and disease type but may include prolonged bleeding time, deficiency of factor VIII, and impaired platelet adhesion.	Angiohemophilia,Hemophilia, Vascular,von Willebrand Disease,Vascular Pseudohemophilia,Von Willebrand Disorder,Von Willebrand's Factor Deficiency,von Willebrand Disease, Recessive Form,von Willebrand's Disease,von Willebrand's Diseases,Angiohemophilias,Disorder, Von Willebrand,Pseudohemophilia, Vascular,Pseudohemophilias, Vascular,Vascular Hemophilia,Vascular Hemophilias,Vascular Pseudohemophilias