F13A1 gene related symptoms and diseases

All the information presented here about the F13A1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, 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 F13A1 gene

Symptoms // Phenotype	% Cases
Poor wound healing	Uncommon - Between 30% and 50% cases
Abnormal umbilical stump bleeding	Uncommon - Between 30% and 50% cases
Bruising susceptibility	Uncommon - Between 30% and 50% cases
Abnormal bleeding	Uncommon - Between 30% and 50% cases
Ecchymosis	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with F13A1 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Reduced factor XIII activity
Prolonged bleeding after surgery
Rarely - Less than 30% cases
Spontaneous hematomas
Joint hemorrhage
Oligospermia
Menorrhagia
Intracranial hemorrhage
Spontaneous abortion

And 13 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to F13A1 gene

Here you will find a list of rare diseases related to the F13A1. 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 XIII DEFICIENCY

Alternate names

CONGENITAL FACTOR XIII DEFICIENCY Is also known as fibrin-stabilizing factor deficiency

Description

Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies.

Most common symptoms of CONGENITAL FACTOR XIII DEFICIENCY

Bruising susceptibility
Abnormal bleeding
Ecchymosis
Poor wound healing
Prolonged bleeding after surgery

More info about CONGENITAL FACTOR XIII DEFICIENCY

SOURCES: ORPHANET OMIM

FACTOR XIII, A SUBUNIT, DEFICIENCY OF

Description

Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit (Kangsadalampai et al., 1999).{21,22:Ichinose et al. (1996, 2000)} proposed a classification of factor XIII deficiency: XIIIA deficiency (formerly 'type II' F13 deficiency) and XIIIB deficiency (formerly 'type I' F13 deficiency), as well as a possible combined deficiency of the 2.

Most common symptoms of FACTOR XIII, A SUBUNIT, DEFICIENCY OF

Bruising susceptibility
Abnormal bleeding
Decreased testicular size
Epistaxis
Spontaneous abortion

More info about FACTOR XIII, A SUBUNIT, DEFICIENCY OF

SOURCES: OMIM

MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO

More info about MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO

SOURCES: OMIM

Search interest in F13A1

Potential gene panels for F13A1 gene

Factor XIII (F13A1) V34L Variant Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the F13A1 gene.

F13A1 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to F13A1 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rarely - Less than 30% cases

Rare diseases associated to F13A1 gene

THROMBOPHILIA DUE TO THROMBIN DEFECT; THPH1

Alternate names

Description

Most common symptoms of THROMBOPHILIA DUE TO THROMBIN DEFECT; THPH1

CONGENITAL FACTOR XIII DEFICIENCY

Alternate names

Description

Most common symptoms of CONGENITAL FACTOR XIII DEFICIENCY

FACTOR XIII, A SUBUNIT, DEFICIENCY OF

Description

Most common symptoms of FACTOR XIII, A SUBUNIT, DEFICIENCY OF

MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO

Search interest in F13A1

Potential gene panels for F13A1 gene

Factor XIII (F13A1) V34L Variant Panel

Factor XIII Deficiency Panel

F13A1. Complete sequencing Panel

Factor XIII deficiency (sequence analysis of F13A1 gene) Panel

Bleeding Disorders Sequencing Panel with CNV Detection Panel

Coagulation Factor Deficiency Sequencing Panel with CNV Detection Panel

Congenital Factor XIII deficiency via F13A1 Gene Sequencing with CNV Detection Panel

Factor XIIIA deficiency Panel

CentoICU platinum plus Panel

New Born testing (CentoICU) Panel

F13A1 & F13B gene analysis Panel

Factor XIII Subunit A Deficiency Panel

Platelets, Coagulation disorders Panel Panel

aCGH Deletion/Duplication Analysis Panel

F13A1 Panel

Bleeding Disorder/Coagulopathy Panel Panel

Coagulation Factor Deficiency Panel Panel

Comprehensive Hematology Panel Panel

Genetic Study of Hereditary Thrombophilia (11 genes) Panel

Factor XIII, deficiency Panel

FACTOR XIII DEFICIENCY Panel

Factor XIIIA Deficiency , Sequencing F13A1 Gene Panel

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

Thrombophilia due to Factor XIII Deficiency , Massive Sequencing (NGS) F13A1, F13B Genes Panel