MCFD2 gene related symptoms and diseases

All the information presented here about the MCFD2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MCFD2 gene

Symptoms // Phenotype % Cases
Abnormal bleeding Very Common - Between 80% and 100% cases
Epistaxis Very Common - Between 80% and 100% cases
Menorrhagia Very Common - Between 80% and 100% cases
Reduced factor VIII activity Very Common - Between 80% and 100% cases
Reduced coagulation factor V activity Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MCFD2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Persistent bleeding after trauma
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Rare diseases associated to MCFD2 gene

Here you will find a list of rare diseases related to the MCFD2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


COMBINED DEFICIENCY OF FACTOR V AND FACTOR VIII


Alternate names

COMBINED DEFICIENCY OF FACTOR V AND FACTOR VIII Is also known as fmfd1, multiple coagulation factor deficiency i, fv and fviii combined deficiency, f5f8d, familial multiple coagulation factor deficiency, fmfd i, mcfd1, familial multiple coagulation factor deficiency i

Description

Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms.

Most common symptoms of COMBINED DEFICIENCY OF FACTOR V AND FACTOR VIII

  • Abnormal bleeding
  • Epistaxis
  • Menorrhagia
  • Reduced factor VIII activity
  • Reduced coagulation factor V activity


More info about COMBINED DEFICIENCY OF FACTOR V AND FACTOR VIII

SOURCES: OMIM ORPHANET

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).

Most common symptoms of FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2; F5F8D2

  • Abnormal bleeding
  • Epistaxis
  • Menorrhagia
  • Reduced factor VIII activity
  • Persistent bleeding after trauma


More info about FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2; F5F8D2

SOURCES: OMIM


Potential gene panels for MCFD2 gene

Bleeding Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Bleeding Disorders Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 TBXA2R TBXAS1 VWF WAS ADAMTS13 ABCG5 ABCG8 GP6 HPS3

More info about this panel

Coagulation Factor Deficiency Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Coagulation Factor Deficiency Sequencing Panel with CNV Detection that also includes the following genes: VWF MCFD2 VKORC1 F10 F11 F12 F13A1 F13B F2 F5

More info about this panel

Combined Factor V and Factor VIII Deficiency via MCFD2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the MCFD2 gene.

More info about this panel

Combined FV & FVIII deficiency Panel

United Kingdom.

By Molecular Haemostasis & Thrombosis GSTS Pathology - Guy's and St. Thomas' NHS Foundation Trust Combined FV & FVIII deficiency that also includes the following genes: MCFD2 LMAN1

More info about this panel

MCFD2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MCFD2 gene.

More info about this panel

Bleeding Disorder/Coagulopathy Panel Panel

Finland.

By Blueprint Genetics Bleeding Disorder/Coagulopathy Panel that also includes the following genes: RUNX1 SRC TBXA2R THBD VWF WAS ADAMTS13 ABCG5 ABCG8 HPS3

More info about this panel

Comprehensive Hematology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26

More info about this panel

Bleeding Disorders , Panel Massive Sequencing (NGS) 23 Genes Panel

Spain.

By Reference Laboratory Genetics Bleeding Disorders , Panel Massive Sequencing (NGS) 23 Genes that also includes the following genes: VWF ADAMTS13 MCFD2 F10 F11 F12 F13A1 F2 F5 F7

More info about this panel


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