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Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 27829 factor V Leiden deficiency Eponyms: Inheritance: APC resistance Leiden type thrombophilia due to factor V Leiden deficiency autosomal recessive Semeiological Hematological disorder, isolated defect. Familial thrombosis-bleeding due to activated protein C (aPC) resistance. Protrombotic polymorphism G1691A is associated with venous thromboembolism. Carier Synthesis: frequency: from 3% to 15%. Thrombophilia has a significant role in IVF-embryo transfer implantation failure. Group Sub group Signs: CARDIOVASCULAR DISORDERS peripheral vessels changes thromboembolia, thrombosis, including thombophilia HEMOPOIETIC-LYMPHORETICULAR SYSTEM DISORDERS coagulation disorders, including platelet changes haemostatic disorders, thrombosis tendency hemorrhage, ecchymoses, bleeding diathesis, purpura LABORATORY DATA biochemical markers metabolic defect chromosomal assignment chromosome 1q localization gene, structural-functional anomalies F5 coagulation factor V (proaccelerin, labile factor), gene chr.1q23 gene analysis-DNA analysis myelo-erythropoietic disorders isolated hematopoietic diseases plasma proteins, anomalies APC (activated protein C) resistance factor V reduced activity, Factor V Leiden mutation prothrombin (PT) prolonged time, reduced time, abnormal consumption index, activation deficiency tissue, biochemical changes porphyrins, including hemoproteins OTHERS inheritance inheritance, autosomal recessive PRENATAL-NEONATAL MODIFIED DATA foetal changes early recurrent abortion foetal changes, recognized by laboratory data prenatal diagnosis prenatal diagnosis, molecular Super group: Super aggreg. FOETAL CHANGES foetal changes, recognized by laboratory data Aggregations: HEMATOLOGICAL DISORDERS haemostatic disorders, thrombosis tendency isolated hematopoietic diseases thrombophilia METABOLIC DISORDERS porphyrins, including hemoproteins factor V Leiden deficiency Page 1 of 2 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database Differential diagnosis: Bibliography factor V Leiden deficiency 21685 75 25331 10805 28572 Factor II deficiency Gabuzda-Szydlowski disease heparin cofactor II deficiency pc cofactor deficiency thrombomodulin defect Nature 369,64-67,1994 OMIM ID: 227400 Hum.Genet.97,263-264,1996 Arteriosclerosis,Thrombosis, Vascular Biology 19,511-518,1999 OMIM ID: 188050 Thompson&Thompson: Genetica in Medicina. Idelson-Gnocchi Ed. 2005, pag. xciv-xcvii Hum. Reprod. 21(10),2694-2698,2006 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.13171328,2007 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.1719,2007 Page 2 of 2
