Inherited Antithrombin (AT) deficiency is an autosomal dominant disorder, that is associated with an increased risk for venous thromboembolism (VTE) and pregnancy loss. AT is a potent inactivator of thrombin and factor Xa and the major inhibitor of blood coagulation. This disease is divided into type I deficiency, in which both the functional activity and antigenic levels AT are proportionately reduced, and type II deficiency, in which normal antigen levels are found in association with low AT activity due to a dysfunctional protein. Type II deficiencies can be further subclassified into three types, depending on the location of the mutations. Type IIa is caused by mutations that affect AT's reactive site. Type IIb is characterized by an abnormality of the heparin-binding domain. Type IIc variants are a pleiotropic group of mutations near the reactive loop site.
Category
Hematologic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
03 Diseases of the blood or blood-forming organs
Coagulation defects, purpura or other haemorrhagic or related conditions
3B61 Thrombophilia
H01381 Antithrombin III deficiency
Pathway-based classification of diseases [BR:br08402]
Immune system
nt06514 Coagulation cascade
H01381 Antithrombin III deficiency
Inherited thrombophilia; Thrombophilia due to thrombin defect (THPH)
Subgroup
Antithrombin III deficiency [DS:H01381] Congenital dysfibrinogenemia [DS:H00222]
Description
Congenital thrombophilias are inherited disorders associated with an increased tendency to venous thromboembolism caused by mutation of genes affecting the anticoagulant pathways of blood coagulation.
Category
Hematologic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
03 Diseases of the blood or blood-forming organs
Coagulation defects, purpura or other haemorrhagic or related conditions
3B61 Thrombophilia
H00223 Inherited thrombophilia
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06535 Efferocytosis
H00223 Inherited thrombophilia
Immune system
nt06514 Coagulation cascade
H00223 Inherited thrombophilia
Miyawaki Y, Suzuki A, Fujita J, Maki A, Okuyama E, Murata M, Takagi A, Murate T, Kunishima S, Sakai M, Okamoto K, Matsushita T, Naoe T, Saito H, Kojima T
Title
Thrombosis from a prothrombin mutation conveying antithrombin resistance.
Formstone CJ, Wacey AI, Berg LP, Rahman S, Bevan D, Rowley M, Voke J, Bernardi F, Legnani C, Simioni P, Girolami A, Tuddenham EG, Kakkar VV, Cooper DN
Title
Detection and characterization of seven novel protein S (PROS) gene lesions: evaluation of reverse transcript-polymerase chain reaction as a mutation screening strategy.
