Biomaterial Database

Molecular pathology of the Bernard-Soulier syndrome, platelet-type von Willebrand's disease and Glanzmann's thrombasthenia. 1993

K J Clemetson, and J M Clemetson

Theodor Kocher Institute, University of Berne, Switzerland.

UI	MeSH Term	Description	Entries
D010973	Platelet Adhesiveness	The process whereby PLATELETS adhere to something other than platelets, e.g., COLLAGEN; BASEMENT MEMBRANE; MICROFIBRILS; or other "foreign" surfaces.	Adhesiveness, Platelet,Adhesivenesses, Platelet,Platelet Adhesivenesses
D010974	Platelet Aggregation	The attachment of PLATELETS to one another. This clumping together can be induced by a number of agents (e.g., THROMBIN; COLLAGEN) and is part of the mechanism leading to the formation of a THROMBUS.	Aggregation, Platelet
D010980	Platelet Membrane Glycoproteins	Surface glycoproteins on platelets which have a key role in hemostasis and thrombosis such as platelet adhesion and aggregation. Many of these are receptors.	PM-GP,Platelet Glycoprotein,Platelet Membrane Glycoprotein,PM-GPs,Platelet Glycoproteins,Glycoprotein, Platelet,Glycoprotein, Platelet Membrane,Glycoproteins, Platelet,Glycoproteins, Platelet Membrane,Membrane Glycoprotein, Platelet,Membrane Glycoproteins, Platelet,PM GP
D005808	Genes, Recessive	Genes that influence the PHENOTYPE only in the homozygous state.	Conditions, Recessive Genetic,Genetic Conditions, Recessive,Recessive Genetic Conditions,Condition, Recessive Genetic,Gene, Recessive,Genetic Condition, Recessive,Recessive Gene,Recessive Genes,Recessive Genetic Condition
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001606	Bernard-Soulier Syndrome	A familial coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, and impaired prothrombin consumption.	Giant Platelet Syndrome,Deficiency of Platelet Glycoprotein 1b,Glycoprotein Ib, Platelet, Deficiency Of,Platelet Glycoprotein 1b, Deficiency of,Platelet Glycoprotein Ib Deficiency,Von Willebrand Factor Receptor Deficiency,Bernard Soulier Syndrome,Platelet Syndromes, Giant,Syndrome, Bernard-Soulier,Syndrome, Giant Platelet,Syndromes, Giant Platelet
D013915	Thrombasthenia	A congenital bleeding disorder with prolonged bleeding time, absence of aggregation of platelets in response to most agents, especially ADP, and impaired or absent clot retraction. Platelet membranes are deficient in or have a defect in the glycoprotein IIb-IIIa complex (PLATELET GLYCOPROTEIN GPIIB-IIIA COMPLEX).	Glanzmann Thrombasthenia,Deficiency of GP 2b 3a Complex,GP IIb-IIIa Complex, Deficiency Of,Glanzmann Thrombasthenia, Type A,Glycoprotein Complex IIb-IIIa, Deficiency Of,Platelet Fibrinogen Receptor, Deficiency of,Platelet Glycoprotein 2b-3a Deficiency,Platelet Glycoprotein IIb-IIIa Deficiency,Thrombasthenia of Glanzmann and Naegeli,GP IIb IIIa Complex, Deficiency Of,Glycoprotein Complex IIb IIIa, Deficiency Of,Platelet Glycoprotein 2b 3a Deficiency,Platelet Glycoprotein IIb IIIa Deficiency,Thrombasthenia, Glanzmann,Thrombasthenias
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