F5 gene related symptoms and diseases

All the information presented here about the F5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to F5 gene

Symptoms // Phenotype	% Cases
Bruising susceptibility	Rare - less than 30% cases
Abnormal bleeding	Rare - less than 30% cases
Hypercoagulability	Rare - less than 30% cases
Menorrhagia	Rare - less than 30% cases
Prolonged partial thromboplastin time	Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with F5 gene alterations may also develop some of the following symptoms and phenotypes:

Rarely - Less than 30% cases
Thromboembolism
Scarring
Stroke
Neoplasm
Nevus
Epistaxis
Abnormality of the coagulation cascade
Prolonged bleeding time

And 48 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to F5 gene

Here you will find a list of rare diseases related to the F5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

BUDD-CHIARI SYNDROME

Description

Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava.

Most common symptoms of BUDD-CHIARI SYNDROME

Neoplasm
Pain
Hypertension
Hepatomegaly
Fever

More info about BUDD-CHIARI SYNDROME

SOURCES: MESH OMIM ORPHANET

CONGENITAL FACTOR V DEFICIENCY

Alternate names

CONGENITAL FACTOR V DEFICIENCY Is also known as owren disease, parahemophilia, proaccelerin deficiency

Description

Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms.

More info about CONGENITAL FACTOR V DEFICIENCY

SOURCES: ORPHANET

FACTOR V DEFICIENCY

Alternate names

FACTOR V DEFICIENCY Is also known as owren parahemophilia, parahemophilia, labile factor deficiency

Most common symptoms of FACTOR V DEFICIENCY

Bruising susceptibility
Abnormal bleeding
Epistaxis
Abnormality of the coagulation cascade
Menorrhagia

More info about FACTOR V DEFICIENCY

SOURCES: OMIM

PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1; RPRGL1

Alternate names

PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1; RPRGL1 Is also known as embryonic loss, recurrent, fetal loss, recurrent, susceptibility to, rprgl, rpl, miscarriage, recurrent, abortion, spontaneous, recurrent, stillbirth, recurrent

Description

Miscarriage, the commonest complication of pregnancy, is the spontaneous loss of a pregnancy before the fetus has reached viability. The term therefore includes all pregnancy losses from the time of conception until 24 weeks of gestation. Recurrent miscarriage, defined as 3 or more consecutive pregnancy losses, affects about 1% of couples; when defined as 2 or more losses, the scale of the problem increases to 5% of all couples trying to conceive (summary by Rai and Regan, 2006).Pregnancy losses have traditionally been designated 'spontaneous abortions' if they occur before 20 weeks gestation and 'stillbirths' if they occur after 20 weeks. Subtypes of spontaneous abortions can be further distinguished on the basis of embryonic development and include anembryonic loss in the first 5 weeks after conception (so-called 'blighted ovum'), embryonic loss from 6 to 9 weeks' gestation, and fetal loss from 10 weeks' gestation through the remainder of the pregnancy. These distinctions are important because the causes of pregnancy loss vary over gestational ages, with anembryonic losses being more likely to be associated with chromosomal abnormalities, for example. Possible etiologies for RPRGL include uterine anatomic abnormalities, cytogenetic abnormalities in the parents or fetus, single gene disorders, thrombophilic conditions, and immunologic or endocrine factors as well as environmental or infectious agents (summary by Warren and Silver, 2008). Genetic Heterogeneity of Recurrent Pregnancy LossSusceptibility to RPRGL2 (OMIM ) is conferred by mutation in the coagulation factor II gene (OMIM ) on chromosome 11p11; RPRGL3 (OMIM ) by mutation in the ANXA5 gene (OMIM ) on chromosome 4q27; and RPRGL4 (see {270960}) by mutation in the SYCP3 gene (OMIM ) on chromosome 12q23.Genetic variation in the conceptus itself that results in decreased viability of the embryo or fetus is discussed in the respective gene and/or phenotype entry (see, e.g., MTHFR, {607093.0004}; NLRP7, {609661}; hydatidiform mole, {231090}).

Most common symptoms of PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1; RPRGL1

Nevus
Spontaneous abortion
Recurrent spontaneous abortion

More info about PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1; RPRGL1

SOURCES: OMIM

EAST TEXAS BLEEDING DISORDER

Alternate names

EAST TEXAS BLEEDING DISORDER Is also known as bdet

Description

East Texas bleeding disorder is a rare, genetic, coagulation disorder characterized by easy bruising (without hemarthrosis or spontaneous hematomas), epistaxis, menorrhagia, and excessive bleeding after minor trauma and surgical procedures. Patients present a prolonged prothrombin time and/or activated partial thromboplastin time, normal levels of all coagulation factors, and normal protein C activity.

Most common symptoms of EAST TEXAS BLEEDING DISORDER

Bruising susceptibility
Menorrhagia

More info about EAST TEXAS BLEEDING DISORDER

SOURCES: MESH ORPHANET OMIM

THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE; THPH2

Alternate names

THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE; THPH2 Is also known as proc cofactor deficiency, apc resistance, thrombophilia due to deficiency of activated protein c cofactor, activated protein c resistance, thrombophilia v, pccf deficiency

Description

Thrombophilia due to activated protein C resistance is due to a mutation in the F5 gene that renders factor V resistant to cleavage and inactivation by activated protein C (PROC ) and results in a tendency to thrombosis.See also factor V deficiency (OMIM ), an allelic disorder resulting in a hemorrhagic diathesis due to lack of factor V.The most common mutation that causes this disorder is referred to as factor V Leiden (R506Q; {612309.0001}), named after the town in the Netherlands where Bertina et al. (1994) discovered the defect. Homozygosity increases the risk of thrombotic complications to a greater extent than heterozygosity. However, heterozygous presence of the mutation may be combined with defects in other genes in the clotting pathway to contribute to the disorder. Expressivity is variable and influenced by environment.

Most common symptoms of THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE; THPH2

Patent ductus arteriosus
Scarring
Abnormal bleeding
Sepsis
Purpura

More info about THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE; THPH2

SOURCES: OMIM MESH

STROKE, ISCHEMIC

Alternate names

STROKE, ISCHEMIC Is also known as cerebral infarction, cerebrovascular accident

Description

A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. It is said to be the third leading cause of death in the United States. Gunel and Lifton (1996) noted that about 20% of strokes are hemorrhagic, resulting in bleeding into the brain. Ischemic strokes, resulting from vascular occlusion, account for the majority of strokes.Bersano et al. (2008) reviewed genetic polymorphisms that have been implicated in the development of stroke. Candidate genes include those involved in hemostasis (see, e.g., F5; {612309}), the renin-angiotensin-aldosterone system (see, e.g., ACE; {106180}), homocysteine (see, e.g., MTHFR; {607093}), and lipoprotein metabolism (see, e.g., APOE; {107741}).See also hemorrhagic stroke, or intracerebral hemorrhage (ICH ).

Most common symptoms of STROKE, ISCHEMIC

Stroke
Cerebral hemorrhage

More info about STROKE, ISCHEMIC

SOURCES: OMIM

CEREBRAL SINOVENOUS THROMBOSIS

Alternate names

CEREBRAL SINOVENOUS THROMBOSIS Is also known as csvt

More info about CEREBRAL SINOVENOUS THROMBOSIS

SOURCES: ORPHANET

Search interest in F5

Potential gene panels for F5 gene

F5 Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the F5 gene.

F5 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to F5 gene

Other less frequent symptoms and clinical features

Rarely - Less than 30% cases

Rare diseases associated to F5 gene

BUDD-CHIARI SYNDROME

Description

Most common symptoms of BUDD-CHIARI SYNDROME

CONGENITAL FACTOR V DEFICIENCY

Alternate names

Description

FACTOR V DEFICIENCY

Alternate names

Most common symptoms of FACTOR V DEFICIENCY

PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1; RPRGL1

Alternate names

Description

Most common symptoms of PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1; RPRGL1

EAST TEXAS BLEEDING DISORDER

Alternate names

Description

Most common symptoms of EAST TEXAS BLEEDING DISORDER

THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE; THPH2

Alternate names

Description

Most common symptoms of THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE; THPH2

STROKE, ISCHEMIC

Alternate names

Description

Most common symptoms of STROKE, ISCHEMIC

CEREBRAL SINOVENOUS THROMBOSIS

Alternate names

Search interest in F5

Potential gene panels for F5 gene

F5 Panel

Factor V Leiden Mutation Panel Panel

Thrombophilia Mutation Panel Panel

Factor V Leiden Panel

Factor V Leiden Panel

Factor V Leiden Thrombophilia Panel

Factor V Analysis Panel

Factore V Leiden Panel

Factor V Leiden Thrombophilia Panel

Factor V Leiden Panel

Hypercoagability Risk Panel Panel

Factor V Leiden Thrombophilia Panel

Factor V (Leiden) Panel

Factor V Leiden related thrombophilia Panel

Factor V Leiden Mutation Analysis Panel

Factor V Leiden/ Prothrombin Panel

Factor V, R2 Mutation Panel

Factor V Leiden (F5) R506Q Mutation Panel

Thrombotic Risk, DNA Panel Panel

Thrombophilic Polymorphism Panel (Factor V Leiden, Prothrombin G20210A, MTHFR C677T, MTHFR A1298C) Panel

Factor V Leiden Mutation Panel

Factor V Leiden Thrombophilia Panel

Factor II & Factor V Assay Panel

MTHFR, FII, FV, PAI. Simultaneous analysis of the polymorphims FII (c.20210G>A), FV (p.R506Q), MTHFR (c.677C>T) and 5G/4G in the 5´UTR region of the PAI gene Panel

MTHFR, FII, FV. Simultaneous analysis of the polymorphims FII (20210G>A), FV (p.Arg506Gln), MTHFR (c.677C>T) and MTHFR (c.1298A>C) Panel

MTHFR, FII, FV. Simultaneous analysis of the polymorphims FII (20210G>A), FV (p.Arg506Gln) and MTHFR (c.677C>T) Panel

FV. Complete sequencing Panel

Factor V Leiden Thrombophilia Panel

Thrombophilia - Factor V Leiden Sequence Analysis for c.1601G>A Panel

Factor V Leiden Thrombophilia Panel

Factor V Leiden Panel

Thrombophilia (F2 + FV Leiden + MTHFR genes) and PAI-1 deficiency frequent mutations on SERPINE1 gene) Panel

Factor V founder mutation Panel

Factor V Leiden mutation Panel

Factor V Leiden Panel

Factor V Deficiency via F5 Gene Sequencing with CNV Detection Panel

Bleeding Disorders Sequencing Panel with CNV Detection Panel

Coagulation Factor Deficiency Sequencing Panel with CNV Detection Panel

Factor V Leiden Thrombophilia Panel

Factor V Leiden Thrombophilia Panel

Factor V Leiden Thrombophilia Panel

Factor V Leiden Thrombophilia Panel

Thrombophilia Panel Panel

Budd-Chiari syndrome Panel

AllNeuro panel Panel

CentoICU platinum plus Panel