F2 gene related symptoms and diseases

All the information presented here about the F2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,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 F2 gene

Symptoms // Phenotype	% Cases
Gastrointestinal hemorrhage	Uncommon - Between 30% and 50% cases
Neoplasm	Rare - less than 30% cases
Stroke	Rare - less than 30% cases
Recurrent spontaneous abortion	Rare - less than 30% cases
Spontaneous abortion	Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with F2 gene alterations may also develop some of the following symptoms and phenotypes:

Rarely - Less than 30% cases
Reduced prothrombin activity
Joint hemorrhage
Prolonged prothrombin time
Prolonged partial thromboplastin time
Ecchymosis
Gingival bleeding
Prolonged bleeding time
Menorrhagia

And 14 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to F2 gene

Here you will find a list of rare diseases related to the F2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

THROMBOPHILIA DUE TO THROMBIN DEFECT; THPH1

Alternate names

THROMBOPHILIA DUE TO THROMBIN DEFECT; THPH1 Is also known as thrombophilia due to factor 2 defect, venous thromboembolism, venous thrombosis

Description

Thrombophilia is a multifactorial disorder of inappropriate clot formation resulting from an interaction of genetic, acquired, and circumstantial predisposing factors. Venous thromboembolism most commonly manifests as deep vein thrombosis, which may progress to pulmonary embolism if the clot dislodges and travels to the lung. Other manifestations include thromboses of the cerebral or visceral veins and recurrent pregnancy loss (summary by Seligsohn and Lubetsky, 2001 and Varga and Kujovich, 2012). Genetic Heterogeneity of ThrombophiliaTHPH2 (OMIM ) is caused by mutation in the F5 gene (OMIM ) on chromosome 1q23; THPH3 (OMIM ) and THPH4 (OMIM ) are both caused by mutation in the PROC gene (OMIM ) on 2q; THPH5 (OMIM ) and THPH6 (OMIM ) are caused by mutation in the PROS1 gene (OMIM ) on 3q11; THPH7 (OMIM ) is caused by mutation in the AT3 gene (OMIM ) on 1q25; THPH8 (OMIM ) is caused by mutation in the F9 gene (OMIM ) on Xq27; THPH9 (OMIM ) is associated with decreased release of tissue plasminogen activator (PLAT ); THPH10 (OMIM ) is caused by mutation in the HCF2 gene (OMIM ) on 22q11; THPH11 (OMIM ) is caused by mutation in the HRG gene (OMIM ) on 3q27; and THPH12 (OMIM ) is associated with variation in the THBD gene (OMIM ) on 20p11.Susceptibility to thrombosis has also been associated with variation in additional genes, including MTHFR ({607093.0003}); F13B ({134580.0003}); plasminogen activator inhibitor (SERPINE1 ); and several genes encoding fibrinogen (FGA, {134820}; FGB, {134830}; FGG, {134850}). Variation in the SERPINA10 (see {605271.0001}), KNG1 (OMIM ) and HABP2 (OMIM ) genes has also been reported.Protection against venous thrombosis is associated with variation in the F13A1 gene (OMIM ) on 6p25.

Most common symptoms of THROMBOPHILIA DUE TO THROMBIN DEFECT; THPH1

Neoplasm
Gastrointestinal hemorrhage
Venous thrombosis
Thromboembolism
Pulmonary embolism

More info about THROMBOPHILIA DUE TO THROMBIN DEFECT; THPH1

SOURCES: OMIM

CONGENITAL FACTOR II DEFICIENCY

Alternate names

CONGENITAL FACTOR II DEFICIENCY Is also known as prothrombin deficiency, dysprothrombinemia, hypoprothrombinemia

Description

Congenital factor II deficiency is an inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous bleeding symptoms.

Most common symptoms of CONGENITAL FACTOR II DEFICIENCY

Abnormality of the liver
Bruising susceptibility
Hematuria
Abnormal bleeding
Gastrointestinal hemorrhage

More info about CONGENITAL FACTOR II DEFICIENCY

SOURCES: MESH ORPHANET OMIM

PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2; RPRGL2

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 recurrent pregnancy loss 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).

Most common symptoms of PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2; RPRGL2

Spontaneous abortion
Recurrent spontaneous abortion

More info about PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2; RPRGL2

SOURCES: OMIM

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 F2

Potential gene panels for F2 gene

Prothrombin Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the F2 gene.

F2 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to F2 gene

Other less frequent symptoms and clinical features

Rarely - Less than 30% cases

Rare diseases associated to F2 gene

THROMBOPHILIA DUE TO THROMBIN DEFECT; THPH1

Alternate names

Description

Most common symptoms of THROMBOPHILIA DUE TO THROMBIN DEFECT; THPH1

CONGENITAL FACTOR II DEFICIENCY

Alternate names

Description

Most common symptoms of CONGENITAL FACTOR II DEFICIENCY

PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2; RPRGL2

Description

Most common symptoms of PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2; RPRGL2

STROKE, ISCHEMIC

Alternate names

Description

Most common symptoms of STROKE, ISCHEMIC

CEREBRAL SINOVENOUS THROMBOSIS

Alternate names

Search interest in F2

Potential gene panels for F2 gene

Prothrombin Panel

Prothrombin Mutation Panel Panel

Thrombophilia Mutation Panel Panel

Prothombin 20210A Panel

Thrombophilia Panel

Prothrombin A20210G Mutation Analysis Panel

Prothrombin 20210G>A Panel

Prothrombin Panel

Hypercoagability Risk Panel Panel

Prothrombin Panel

Prothrombin Gene Mutation Panel

Prothrombin related thrombophillia Panel

Prothrombin Targeted Mutation Analysis Panel

Factor V Leiden/ Prothrombin Panel

Prothrombin Panel

Prothrombin (F2) c.*97G>A (G20210A) Pathogenic Variant Panel

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

Prothrombin-Related Thrombophilia Panel

Prothrombin-Related Thrombophilia Panel

Factor II & Factor V Assay Panel

F2. Complete sequencing 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

Test for Prothrombin Deficiency Panel

Thrombophilia - Factor II Prothrombin Sequence Analysis for c.*97G>A Panel

Prothrombin-Related Thrombophilia Panel

Thrombophilia Panel

Factor II deficiency (sequence analysis of F2 gene) Panel

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

Prothrombin-Related Thrombophilia Panel

Prothrombin gene polymorphism ( G20210A ) Panel

Prothrombin Gene Mutation Panel

Prothrombin Panel

Bleeding Disorders Sequencing Panel with CNV Detection Panel

Coagulation Factor Deficiency Sequencing Panel with CNV Detection Panel

Prothrombin/Factor II Deficiency via F2 Gene Sequencing with CNV Detection Panel

Prothrombin-Related Thrombophilia Panel

Prothrombin-Related Thrombophilia Panel

Prothrombin-Related Thrombophilia Panel

Thrombophilia Panel Panel

Factor II deficiency Panel

AllNeuro panel Panel

CentoICU platinum plus Panel

New Born testing (CentoICU) Panel

Factor II deficiency Panel

F2 gene analysis Panel

Factor II (Protrombina) Panel

Prothrombin (factor II) deficiency Panel

Factor II deficiency Panel

Prothrombin Panel

Platelets, Coagulation disorders Panel Panel

Single gene testing F2 3'UTR Panel

Single gene testing F2 Panel

Thrombophilia Panel

Prothrombin-Related Thrombophilia (F2) Panel