Biomaterial Database

Hereditary antithrombin III deficiency: biochemical aspects. 1984

G Sas

Since the description of the first thrombophilic family with congenital AT-III deficiency, increasing numbers of different types of the condition have become evident. Initially the anomaly seemed to be homogeneous and simple: the three main characteristics of AT-III (thrombin inactivating and heparin cofactor activity, antigen concentration) were decreased. This type of AT-III deficiency (type 1) was later divided into type 1a and 1b on the basis of the heparin affinity of the AT-III molecule. The first family with a different qualitative AT-III disorder (type 2) was described by our group in 1974. In the members of this family the AT-III antigen concentration was normal, but the molecule had no functional activity (AT-III Budapest). In the last few years some new variants of type 2 hereditary AT-III disorders have been observed; they are characterized by a loss of one or more functional properties of the AT-III molecule.

UI	MeSH Term	Description	Entries
D002846	Chromatography, Affinity	A chromatographic technique that utilizes the ability of biological molecules, often ANTIBODIES, to bind to certain ligands specifically and reversibly. It is used in protein biochemistry. (McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)	Chromatography, Bioaffinity,Immunochromatography,Affinity Chromatography,Bioaffinity Chromatography
D003378	Counterimmunoelectrophoresis	Immunoelectrophoresis in which immunoprecipitation occurs when antigen at the cathode is caused to migrate in an electric field through a suitable medium of diffusion against a stream of antibody migrating from the anode as a result of endosmotic flow.	Electrosyneresis,Immunoelectroosmophoresis,Immunoelectrophoresis, Countercurrent,Immunoelectrophoresis, Crossover,Countercurrent Immunoelectrophoresis,Crossover Immunoelectrophoresis
D005826	Genetics, Medical	A subdiscipline of human genetics which entails the reliable prediction of certain human disorders as a function of the lineage and/or genetic makeup of an individual or of any two parents or potential parents.	Medical Genetics
D006493	Heparin	A highly acidic mucopolysaccharide formed of equal parts of sulfated D-glucosamine and D-glucuronic acid with sulfaminic bridges. The molecular weight ranges from six to twenty thousand. Heparin occurs in and is obtained from liver, lung, mast cells, etc., of vertebrates. Its function is unknown, but it is used to prevent blood clotting in vivo and vitro, in the form of many different salts.	Heparinic Acid,alpha-Heparin,Heparin Sodium,Liquaemin,Sodium Heparin,Unfractionated Heparin,Heparin, Sodium,Heparin, Unfractionated,alpha Heparin
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000013	Congenital Abnormalities	Malformations of organs or body parts during development in utero.	Birth Defects,Congenital Defects,Deformities,Fetal Anomalies,Fetal Malformations,Abnormalities, Congenital,Defects, Congenital,Abnormality, Congenital,Anomaly, Fetal,Birth Defect,Congenital Abnormality,Congenital Defect,Defect, Birth,Defect, Congenital,Deformity,Fetal Anomaly,Fetal Malformation,Malformation, Fetal
D000941	Antigens	Substances that are recognized by the immune system and induce an immune reaction.	Antigen
D000990	Antithrombin III	A plasma alpha 2 glycoprotein that accounts for the major antithrombin activity of normal plasma and also inhibits several other enzymes. It is a member of the serpin superfamily.	Heparin Cofactor I,Antithrombin III-Alpha,Atenativ,Heparin Co-Factor I,Kybernin,Serpin C1,Thrombate III,Antithrombin III Alpha,Antithrombin IIIAlpha,Cofactor I, Heparin,Heparin Co Factor I
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
D020152	Antithrombin III Deficiency	An absence or reduced level of Antithrombin III leading to an increased risk for thrombosis.	Antithrombin 3 Deficiency,Congenital Antithrombin III Deficiency,Deficiency, Antithrombin III,Hereditary Antithrombin Deficiency,Antithrombin 3 Deficiencies,Antithrombin III Deficiencies,Deficiencies, Antithrombin 3,Deficiencies, Antithrombin III,Deficiency, Antithrombin 3