Factor V deficiency is an autosomal recessive hemorrhagic disorder, which is identified as an inherited resistance to the anticoagulant function of activated protein C.
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
H00220 Factor V deficiency
Pathway-based classification of diseases [BR:br08402]
Immune system
nt06514 Coagulation cascade
H00220 Factor V 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.
Budd-Chiari syndrome (BDCHS) is a heterogeneous group of disorders characterized by hepatic venous outflow obstruction at the hepatic veins or inferior vena cava. Clinically, the disease is characterized by hepatomegaly, manifestations of portal hypertension, and sometimes rapidly deteriorating liver function. Factors that confer a predisposition to the development of the Budd-Chiari syndrome, including hypercoagulable states, both hereditary and acquired, and a variety of other causes, can be identified in about 75 percent of patients. The factor V Leiden mutation and V617F mutation in the JAK2 gene have been noted in patients with the Budd-Chiari syndrome.
Category
Digestive system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
13 Diseases of the digestive system
Diseases of liver
DB98 Vascular disorders of the liver
H01433 Budd-Chiari syndrome
Pathway-based classification of diseases [BR:br08402]
Immune system
nt06514 Coagulation cascade
H01433 Budd-Chiari syndrome
Janssen HL, Meinardi JR, Vleggaar FP, van Uum SH, Haagsma EB, van Der Meer FJ, van Hattum J, Chamuleau RA, Adang RP, Vandenbroucke JP, van Hoek B, Rosendaal FR
Title
Factor V Leiden mutation, prothrombin gene mutation, and deficiencies in coagulation inhibitors associated with Budd-Chiari syndrome and portal vein thrombosis: results of a case-control study.
