Prothrombin (factor II) deficiency is an autosomal recessive disorder associated with moderate or severe bleeding tendency. It occurs in approximately 1 in 1-2 million people. Prothrombin is activated to thrombin, which in turn proteolytically cleaves fibrinogen to fibrin and contributes to forming a stable fibrin clot.
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
Coagulation defects
Congenital or constitutional haemorrhagic condition
3B14 Other inherited coagulation factor deficiency with bleeding tendency
H01254 Congenital prothrombin deficiency
Pathway-based classification of diseases [BR:br08402]
Immune system
nt06514 Coagulation cascade
H01254 Congenital prothrombin 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.