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Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 26790 von Willebrand disease, autosomal recessive Eponyms: Inheritance: F8vWF pseudohemophilia vWD vWD IIC vWD III autosomal dominant genetic heterogeneity supposed autosomal recessive Semeiological Hematological disorder, isolated defect. Prolonged bleeding time, decreased Factor VIII activity. Synthesis: Group Sub group Signs: CARDIOVASCULAR DISORDERS cardiac congenital defects mitral valve, prolapse HEMOPOIETIC-LYMPHORETICULAR SYSTEM DISORDERS coagulation disorders, including platelet changes haemostatic disorders, bleeding tendency hemorrhage, ecchymoses, bleeding diathesis, purpura LABORATORY DATA chromosomal assignment chromosome 15q localization gene, structural-functional anomalies gene analysis-DNA analysis PLCB2, gene chr.15q15 VWF (F8VWF) coagulation factor VIII VWF (von Willebrand factor), gene chr.12p13.3 myelo-erythropoietic disorders isolated hematopoietic diseases platelet , dysfunction OTHERS inheritance inheritance, autosomal dominant inheritance, genetic heterogeneity PRENATAL-NEONATAL MODIFIED DATA foetal changes foetal changes, recognized by laboratory data prenatal diagnosis foetal blood analysis prenatal diagnosis, molecular Super group: Super aggreg. FOETAL CHANGES foetal changes, recognized by laboratory data Aggregations: HEMATOLOGICAL DISORDERS haemostatic disorders, bleeding tendency isolated hematopoietic diseases Differential diagnosis: 28650 8337 28586 10710 11980 11990 11991 71 78 cyclic thrombocytopenia Egeberg disease Glanzmann thromboastenia type B Glanzmann-Naegeli syndrome hemophilia A hemophilia B hemophilia C hemophilia, acquired platelet , ADP receptor defect von Willebrand disease, autosomal recessive Page 1 of 2 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 77 72 21835 25312 platelet, factor 3 deficiency platelet, responsiveness to adrenaline pseudo von Willebrand disease thromboastenia-thrombocytopenia Aggregation(s) [in differential diagnosis]: - haemostatic disorders, bleeding tendency Bibliography OMIM ID: 277480 OMIM ID: 604114 Annuario Orphanet-Italia delle Malattie Rare 2005, pag. 821 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.17021708,2007 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.17091712,2007 von Willebrand disease, autosomal recessive Page 2 of 2
