12 articles
Combined deficiency of factor V and factor VIII
Combined deficiency of factor V and factor VIII (F5F8D) is a rare autosomal recessive bleeding disorder caused by LMAN1 or MCFD2 mutations impairing ER-to-Golgi transport of both factors, with mild bleeding and levels typically 5–30%.
Congenital factor II deficiency
Congenital factor II deficiency, also called congenital prothrombin deficiency, is a rare inherited bleeding disorder caused by reduced activity of factor II (prothrombin), inherited in an autosomal recessive pattern.
Congenital factor V deficiency
Congenital factor V deficiency (Owren disease, parahemophilia) is a rare autosomal recessive bleeding disorder from F5 gene mutations, treated with fresh frozen plasma, prevalence about 1 in 1,000,000.
Congenital factor VII deficiency
Congenital factor VII deficiency (hypoproconvertinemia, OMIM 227500) is a rare autosomal recessive bleeding disorder from F7 gene mutations, classified severe under 10% FVII activity, treated with recombinant FVIIa.
Congenital factor X deficiency
Congenital factor X deficiency, also called Stuart-Prower factor deficiency, is a rare autosomal recessive bleeding disorder from F10 gene mutations (13q34), prevalence about 1 per million homozygotes, causing mucocutaneous, joint, and life-threatening bleeding, treated with plasma-derived factor X concentrate (Coagadex).
Congenital factor XI deficiency
Congenital factor XI deficiency (hemophilia C, Rosenthal syndrome) is a rare autosomal F11-gene bleeding disorder with post-surgical, mucosal bleeding that correlates poorly with FXI levels; treated with TXA, plasma, or concentrate.
Congenital factor XII deficiency
Congenital factor XII deficiency, also called Hageman factor deficiency or Hageman trait, is a rare autosomal recessive clotting disorder that prolongs the aPTT test without causing abnormal bleeding.
Congenital factor XIII deficiency
Congenital factor XIII deficiency, also called fibrin stabilizing factor deficiency (ORPHA:331), is a rare autosomal recessive bleeding disorder from F13A1 or F13B variants, causing umbilical stump bleeding, intracranial hemorrhage, poor wound healing, and miscarriage despite normal routine coagulation tests.
Congenital fibrinogen deficiency
Congenital fibrinogen deficiency (CFD), also called congenital fibrinogen disorders, is a rare inherited bleeding disorder from FGA, FGB, or FGG mutations, spanning afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia, treated with fibrinogen concentrate.
Congenital prekallikrein deficiency
Congenital prekallikrein deficiency (Fletcher factor deficiency, PKK deficiency), a rare autosomal recessive KLKB1-related coagulation disorder causing isolated prolonged aPTT with normal prothrombin time and usually no bleeding.
Factor X
Factor X (Stuart–Prower factor) is a vitamin K-dependent liver serine protease, first enzyme of the common coagulation pathway, encoded by F10 on 13q34; its inherited deficiency affects about 1 per million people.
Hereditary combined deficiency of vitamin K-dependent clotting factors
Hereditary combined deficiency of vitamin K-dependent clotting factors (VKCFD), also called hereditary combined deficiency of factors II, VII, IX and X, is a rare autosomal recessive bleeding disorder from GGCX or VKORC1 mutations, treated with vitamin K and prothrombin complex concentrate.