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.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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
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
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
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
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
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.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10; SCAR10 MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more