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Factor V Leiden (rs6025 or F5 p.R506Q [1]) is a variant (mutated form) of human factor V (one of several substances that helps blood clot), which causes an increase ...
The minor ("type 2") thrombophilias are much more common. Factor V Leiden is present in 5% of the population of Northern European descent, but much rarer in those of Asian or African extraction. In people with thrombosis, 10% have factor V Leiden. In those who are referred for thrombophilia testing, 30–50% have the defect.
As such, family history of VTE is a risk factor for a first VTE. [88] Factor V Leiden, which makes factor V resistant to inactivation by activated protein C, [88] mildly increases VTE risk by about three times. [14] [88] Deficiencies of three proteins that normally prevent blood from clotting—protein C, protein S, and antithrombin ...
14067 Ensembl ENSG00000198734 ENSMUSG00000026579 UniProt P12259 O88783 RefSeq (mRNA) NM_000130 NM_007976 RefSeq (protein) NP_000121 NP_032002 Location (UCSC) Chr 1: 169.51 – 169.59 Mb Chr 1: 163.98 – 164.05 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Coagulation factor V (Factor V), also less commonly known as proaccelerin or labile factor, is a protein involved in ...
APC resistance is the inability of protein C to cleave Factor Va and/or Factor VIIIa, which allows for longer duration of thrombin generation and may lead to a hypercoagulable state. This may be hereditary or acquired. [4] The best known and most common hereditary form is Factor V Leiden, which is responsible for more than 95% of cases. [5]
Factor V Leiden: Thrombocytosis: Idiopathic thrombocytopenic purpura: D69.3: 6673: D016553 Idiopathic thrombocytopenic purpura (ITP) is the condition of having a low platelet count (thrombocytopenia) of no known cause . Recurrent thrombosis: Hemophilia: Hemophilia A: Hemophilia B: Hemophilia C: Von Willebrand disease: Antiphospholipid syndrome ...
Coagulopathy (also called a bleeding disorder) is a condition in which the blood's ability to coagulate (form clots) is impaired. [1] This condition can cause a tendency toward prolonged or excessive bleeding (bleeding diathesis), which may occur spontaneously or following an injury or medical and dental procedures.
Factor V Leiden is responsible for 8% of cases. [2] Other less common inherited disorders leading to the condition include factor II mutation (3%), protein C deficiency (5%), protein S deficiency (4%), and antithrombin III deficiency(1%). [2] [14] Budd–Chiari syndrome may be the presenting sign of these hypercoagulable disorders.