Factor V And Factor Viii, Combined Deficiency Of, 1; F5f8d1

Description

Combined deficiency of factor V (OMIM ) and factor VIII (OMIM ) is characterized by bleeding symptoms similar to those in hemophilia (OMIM ) or parahemophilia (OMIM ), caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma FV and FVIII antigen and activity levels are in the range of 5 to 30%. Inheritance of F5F8D is autosomal recessive and distinct from the coinheritance of FV deficiency and FVIII deficiency (summary by Zhang and Ginsburg, 2004). Genetic Heterogeneity of Combined Deficiency of Factor V and Factor VIIIAnother form of combined deficiency of factor V and factor VII (F5F8D2 ) is caused by mutation in the MCFD2 gene (OMIM ) on chromosome 2.

Genes related to Factor V And Factor Viii, Combined Deficiency Of, 1; F5f8d1

MCFD2
LMAN1

Clinical Features

Phenotypes and symptoms related to Factor V And Factor Viii, Combined Deficiency Of, 1; F5f8d1

Abnormal bleeding
Reduced factor VIII activity
Reduced coagulation factor V activity

Incidence and onset information

— Based on the latest data available Factor V And Factor Viii, Combined Deficiency Of, 1; F5f8d1 have a estimated prevalence of 0.5 per 100k worldwide.

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Factor V And Factor Viii, Combined Deficiency Of, 1; F5f8d1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Bleeding Disorders Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, F11, VWF , (...) View the complete list with 41 more genes Panel GTR000512341 complete gene list F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, F11, VWF, F9, F8, ADAMTS13, ABCG5, ABCG8, GP1BA, ANO6, GP6, FGA, FGB, GGCX, TBXA2R, FGG, P2RX1, P2RY12, TBXAS1, PLAU, NBEAL2, ITGA2, HOXA11, GFI1B, CD36, ITGB3, ITGA2B, MASTL, SERPINE1, GP1BB, VKORC1, F7, PRKACG, FLI1, ACTN1, TUBB1, GP9, F10, F12, F13A1, F13B, MCFD2, SERPINF2, LMAN1 Specificity 4 % Genes 100 %
Coagulation Factor Deficiency Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. F2, F5, F11, VWF, F9, F8, FGA, FGB, GGCX, FGG, SERPINE1, VKORC1, F7, F10, F12, F13A1, F13B, MCFD2, SERPINF2, LMAN1 Specificity 10 % Genes 100 %
Combined Factor V and Factor VIII Deficiency via MCFD2 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. MCFD2 Specificity 100 % Genes 50 %
Combined FV & FVIII deficiency. By Molecular Haemostasis & Thrombosis GSTS Pathology - Guy's and St. Thomas' NHS Foundation Trust in United Kingdom. MCFD2, LMAN1 Specificity 100 % Genes 100 %
MCFD2. By Fulgent Genetics Fulgent Genetics in United States. MCFD2 Specificity 100 % Genes 50 %
Bleeding Disorder/Coagulopathy Panel. By Blueprint Genetics in Finland. F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, F11 , (...) View the complete list with 42 more genes Panel GTR000552647 complete gene list F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, F11, VWF, THBD, F9, F8, ADAMTS13, ABCG5, ABCG8, GP1BA, FGA, FGB, GGCX, TBXA2R, FGG, P2RY12, NBEAL2, HOXA11, GFI1B, ITGB3, ITGA2B, MASTL, ETV6, GP1BB, RBM8A, PROS1, PROC, VKORC1, F7, SRC, SLFN14, PRKACG, FYB1, FLI1, ACTN1, TUBB1, GP9, F10, F12, F13A1, SERPINC1, MECOM, MCFD2, LMAN1 Specificity 4 % Genes 100 %
Comprehensive Hematology Panel. By Blueprint Genetics in Finland. BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...) View the complete list with 219 more genes Panel GTR000552666 complete gene list BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2, MTR, TYR, SLC37A4, GPR143, CLCN7, DTNBP1, ALAS2, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, GPI, RPL35A, CYCS, HAX1, AP3B1, PUS1, PDHA1, ABCB7, TCN2, AK2, NT5C3A, CUBN, CYB5R3, SLC25A38, ANKRD26, PDHX, FANCC, BLM, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, RPS19, SOS1, TINF2, RIT1, MAP2K2, CBL, ATM, NBN, PALB2, CDKN2A, BRIP1, GATA2, PAX5, SBDS, CEBPA, PRF1, RAD51C, HBA1, G6PD, HBA2, MPL, RTEL1, WAS, NF1, FLNA, ATRX, VPS13B, ACTB, SLC19A2, MYH9, PIEZO1, GATA1, KLF1, RPS26, RPS10, RPL11, RPL5, RPS24, PKLR, CDAN1, SEC23B, MAGT1, FANCB, DKC1, ATR, CTSC, BLOC1S6, LYST, TERC, TERT, PARN, CSF2RA, ABCA3, SFTPC, SFTPB, SH2D1A, F11, VWF, THBD, CTC1, WRAP53, NHP2, NOP10, F9, F8, ADAMTS13, FANCA, FANCG, FANCF, FANCE, ABCG5, ABCG8, SLX4, FANCM, FANCL, FANCI, FANCD2, XRCC2, ERCC4, SRP72, THPO, RPS7, USB1, SLC46A1, GP1BA, FGA, FGB, GGCX, MYO5A, RAB27A, TBXA2R, FGG, P2RY12, NBEAL2, ITGA2, HOXA11, GFI1B, ITGB3, ITGA2B, MASTL, JAK2, IKZF1, ETV6, CSF3R, IFNGR2, SLC4A1, GP1BB, UNC13D, FAS, STX11, ELANE, XIAP, FASLG, STXBP2, ITK, RPL15, G6PC3, VPS45, RBM8A, GFI1, LAMTOR2, RAC2, CXCR4, EPB41, SPTB, SPTA1, ANK1, EPB42, RHAG, TPI1, GSS, C15orf41, LPIN2, PROS1, FADD, WIPF1, PROC, JAGN1, VKORC1, F7, ACD, EPOR, PGM3, EPAS1, DNAJC21, SAMD9, SAMD9L, SRC, SLFN14, PRKACG, FYB1, FLI1, ACTN1, TUBB1, GP9, REN, DDX41, EGLN1, CLPB, RNF168, TRNT1, F10, F12, TF, F13A1, DHFR, SERPINC1, F13B, TMPRSS6, MECOM, RPS29, MCFD2, LMAN1, WDR1, SMARCD2, AP3D1, MTHFD1, ERCC6L2, DCLRE1B, GINS1, MRTFA, ARPC1B Specificity 1 % Genes 100 %
Bleeding Disorders , Panel Massive Sequencing (NGS) 23 Genes. By Reference Laboratory Genetics in Spain. F2, F5, MTHFR, F11, VWF, F9, F8, ADAMTS13, GP1BA, FGA, FGB, FGG, ITGB3, ITGA2B, GP1BB, F7, GP9, F10, F12, F13A1 , (...) View the complete list with 2 more genes Panel GTR000559800 complete gene list F2, F5, MTHFR, F11, VWF, F9, F8, ADAMTS13, GP1BA, FGA, FGB, FGG, ITGB3, ITGA2B, GP1BB, F7, GP9, F10, F12, F13A1, MCFD2, LMAN1 Specificity 10 % Genes 100 %
Combined Factor V and Factor VIII Deficiency via the LMAN1 Gene. By PreventionGenetics PreventionGenetics in United States. LMAN1 Specificity 100 % Genes 50 %
aCGH Deletion/Duplication Analysis. By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States. F2, F5, RUNX1, COL1A1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, HAX1, ENG, MPL, WAS, LMNA, MYH9, GATA1, BLOC1S6, ACVRL1 , (...) View the complete list with 45 more genes Panel GTR000523364 complete gene list F2, F5, RUNX1, COL1A1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, HAX1, ENG, MPL, WAS, LMNA, MYH9, GATA1, BLOC1S6, ACVRL1, F11, VWF, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, F9, F8, CFHR1, CFHR3, DGKE, ADAMTS13, GP1BA, GP6, FGA, FGB, GGCX, TBXA2R, FGG, PLAU, HOXA11, MASTL, GP1BB, ELANE, STXBP2, G6PC3, RBM8A, PROC, VKORC1, F7, CFHR4, ACTN1, GP9, F10, F13A1, SERPINC1, LMAN1, C4BPA, C4BPB, PLA2G4A, HRG, SERPIND1 Specificity 2 % Genes 50 %
LMAN1. By Fulgent Genetics Fulgent Genetics in United States. LMAN1 Specificity 100 % Genes 50 %
Coagulation Factor Deficiency Panel. By Blueprint Genetics in Finland. F2, F5, F11, VWF, F9, F8, FGA, FGB, GGCX, FGG, VKORC1, F7, F10, F12, F13A1, LMAN1 Specificity 7 % Genes 50 %

Alternate names

Factor V And Factor Viii, Combined Deficiency Of, 1; F5f8d1 Is also known as familial multiple coagulation factor deficiency i;fmfd1, fmfd i, multiple coagulation factor deficiency i;mcfd1;f5f8d; fv and fviii combined deficiency; familial multiple coagulation factor deficiency.

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