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

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).

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

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.


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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
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
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
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
Specificity
5 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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