Factor V And Factor Viii, Combined Deficiency Of, 2; F5f8d2

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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).

Genes related to Factor V And Factor Viii, Combined Deficiency Of, 2; F5f8d2

MCFD2

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Clinical Features

Phenotypes and symptoms related to Factor V And Factor Viii, Combined Deficiency Of, 2; F5f8d2

Abnormal bleeding
Epistaxis
Menorrhagia
Reduced factor VIII activity
Persistent bleeding after trauma
Reduced coagulation factor V activity

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Factor V And Factor Viii, Combined Deficiency Of, 2; F5f8d2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Bleeding Disorders Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). RUNX1, TBXA2R, TBXAS1, VWF, WAS, ADAMTS13, ABCG5, ABCG8, GP6, HPS3, HPS4, TUBB1, ACTN1, CD36, HPS5, DTNBP1, P2RY12, MCFD2, HPS6, MASTL , (...) View the complete list with 41 more genes Panel complete gene list RUNX1, TBXA2R, TBXAS1, VWF, WAS, ADAMTS13, ABCG5, ABCG8, GP6, HPS3, HPS4, TUBB1, ACTN1, CD36, HPS5, DTNBP1, P2RY12, MCFD2, HPS6, MASTL, CYCS, BLOC1S3, VKORC1, ANO6, ANKRD26, NBEAL2, F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F9, FGA, FGB, FGG, FLI1, FLNA, GATA1, GFI1B, GGCX, GP1BA, GP1BB, GP9, HOXA11, HPS1, AP3B1, ITGA2, ITGA2B, ITGB3, LMAN1, MPL, MYH9, P2RX1, SERPINE1, PLAU, SERPINF2, PRKACG Specificity 2 % Genes 100 %
Coagulation Factor Deficiency Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). VWF, MCFD2, VKORC1, F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F9, FGA, FGB, FGG, GGCX, LMAN1, SERPINE1, SERPINF2 Specificity 5 % Genes 100 %
Combined Factor V and Factor VIII Deficiency via MCFD2 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). MCFD2 Specificity 100 % Genes 100 %
Combined FV & FVIII deficiency. By Molecular Haemostasis & Thrombosis GSTS Pathology - Guy's and St. Thomas' NHS Foundation Trust (United Kingdom). MCFD2, LMAN1 Specificity 50 % Genes 100 %
MCFD2. By Fulgent Genetics Fulgent Genetics (United States). MCFD2 Specificity 100 % Genes 100 %
Bleeding Disorder/Coagulopathy Panel. By Blueprint Genetics (Finland). RUNX1, SRC, TBXA2R, THBD, VWF, WAS, ADAMTS13, ABCG5, ABCG8, HPS3, HPS4, TUBB1, ACTN1, HPS5, DTNBP1, P2RY12, MCFD2, HPS6, MASTL, CYCS , (...) View the complete list with 42 more genes Panel complete gene list RUNX1, SRC, TBXA2R, THBD, VWF, WAS, ADAMTS13, ABCG5, ABCG8, HPS3, HPS4, TUBB1, ACTN1, HPS5, DTNBP1, P2RY12, MCFD2, HPS6, MASTL, CYCS, BLOC1S3, VKORC1, ANKRD26, NBEAL2, SLFN14, ETV6, MECOM, F10, F11, F12, F13A1, F2, F5, F7, F8, F9, FGA, FGB, FGG, FLI1, FLNA, FYB1, GATA1, GFI1B, GGCX, GP1BA, GP1BB, GP9, HOXA11, HPS1, AP3B1, ITGA2B, ITGB3, LMAN1, MPL, MYH9, SERPINC1, BLOC1S6, PRKACG, PROC, PROS1, RBM8A Specificity 2 % Genes 100 %
Comprehensive Hematology Panel. By Blueprint Genetics (Finland). RHAG, RIT1, RPL11, RPL15, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS29, RPS7, RUNX1, BLM, SEC23B, SFTPB, SFTPC, SH2D1A, SLC19A2, BRAF , (...) View the complete list with 218 more genes Panel complete gene list RHAG, RIT1, RPL11, RPL15, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS29, RPS7, RUNX1, BLM, SEC23B, SFTPB, SFTPC, SH2D1A, SLC19A2, BRAF, BRCA1, BRCA2, SMARCD2, SOS1, SPTA1, SPTB, SRC, SRP72, STX11, STXBP2, EPCAM, TBXA2R, TCN2, TERC, TERT, TF, THBD, THPO, TINF2, FAS, FASLG, TP53, TPI1, EGLN1, TYR, TYRP1, VWF, WAS, WIPF1, WDR1, XRCC2, IKZF1, ACTB, SAMD9, SAMD9L, ADAMTS13, ABCG5, ABCG8, MRTFA, NHP2, NOP10, LPIN2, VPS45, AMN, CBL, PUS1, HPS3, HPS4, RTEL1, TUBB1, ACTN1, SLC45A2, TMPRSS6, HAX1, HPS5, CDAN1, DTNBP1, TRNT1, DCLRE1B, NT5C3A, CDKN2A, P2RY12, CEBPA, MCFD2, DDX41, HPS6, MASTL, SBDS, LYST, CYCS, GPR143, CLCN7, BRIP1, FANCL, BLOC1S3, PDHX, VPS13B, UNC13D, FANCM, VKORC1, SLX4, YARS2, CSF2RA, CSF3R, G6PC3, ACD, CTSC, CUBN, WRAP53, FANCI, CXCR4, USB1, SLC25A38, PALB2, CTC1, RNF168, ERCC6L2, JAGN1, C15orf41, DNAJC21, DHFR, CYB5R3, MAGT1, DKC1, GINS1, PIEZO1, ANKRD26, LAMTOR2, SLC46A1, CLPB, NBEAL2, SLFN14, ABCA3, ELANE, EPAS1, EPB41, EPB42, EPOR, ERCC4, ETV6, MECOM, F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F9, FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, AK2, FGA, FGB, FGG, FLI1, FLNA, ALAS2, FYB1, G6PD, SLC37A4, GATA1, GATA2, GFI1, GFI1B, GGCX, GP1BA, GP1BB, GP9, GPI, GSS, ABCB7, HBA1, HBA2, HBB, HFE, ANK1, HOXA11, HPS1, HRAS, IFNGR2, AP3B1, AP3D1, XIAP, ITGA2, ITGA2B, ITGB3, ITK, JAK2, KLF1, KRAS, LMAN1, MAP2K1, MAP2K2, ARPC1B, MLH1, MPL, MSH2, MSH6, MTHFD1, MTR, MYH9, MYO5A, NBN, SERPINC1, NF1, ATM, NRAS, OCA2, BLOC1S6, PARN, PAX5, PC, PDHA1, ATR, ATRX, PGM3, PKLR, PMS2, PRF1, PRKACG, PROC, PROS1, PTPN11, RAB27A, RAC2, RAD51C, RBM8A, RECQL4, REN Specificity 1 % Genes 100 %
Bleeding Disorders , Panel Massive Sequencing (NGS) 23 Genes. By Reference Laboratory Genetics (Spain). VWF, ADAMTS13, MCFD2, F10, F11, F12, F13A1, F2, F5, F7, F8, F9, FGA, FGB, FGG, GP1BA, GP1BB, GP9, ITGA2B, ITGB3 , (...) View the complete list with 2 more genes Panel complete gene list VWF, ADAMTS13, MCFD2, F10, F11, F12, F13A1, F2, F5, F7, F8, F9, FGA, FGB, FGG, GP1BA, GP1BB, GP9, ITGA2B, ITGB3, LMAN1, MTHFR Specificity 5 % Genes 100 %

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Sources and references

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