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.

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.

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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


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.

More info about this panel

Factor XIII Deficiency Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Factor XIII Deficiency that also includes the following genes: F13A1 F13B

More info about this panel

F13A1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the F13A1 gene.

More info about this panel

Factor XIII deficiency (sequence analysis of F13A1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the F13A1 gene.

More info about this panel

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

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

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the F13A1 gene.

More info about this panel

Factor XIIIA deficiency Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the F13A1 gene.

More info about this panel

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

F13A1 & F13B gene analysis Panel

United Kingdom.

By Molecular Haemostasis & Thrombosis GSTS Pathology - Guy's and St. Thomas' NHS Foundation Trust F13A1 & F13B gene analysis that also includes the following genes: F13A1 F13B

More info about this panel

Factor XIII Subunit A Deficiency Panel

Italy.

By Medical Genetics Laboratory Bambino Gesù Children's Hospital

This panel specifically test the F13A1 gene.

More info about this panel

Platelets, Coagulation disorders Panel Panel

Germany.

By CeGaT GmbH Platelets, Coagulation disorders Panel that also includes the following genes: VHL VWF ADAMTS13 TET2 DSG1 ENTPD1 ETV6 F10 F11 F12

More info about this panel

aCGH Deletion/Duplication Analysis Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti aCGH Deletion/Duplication Analysis that also includes the following genes: CFB RUNX1 STXBP2 TBXA2R THBD VWF WAS C3 C4BPA C4BPB

More info about this panel

F13A1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the F13A1 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

Coagulation Factor Deficiency Panel Panel

Finland.

By Blueprint Genetics Coagulation Factor Deficiency Panel that also includes the following genes: VWF VKORC1 F10 F11 F12 F13A1 F2 F5 F7 F8

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

Genetic Study of Hereditary Thrombophilia (11 genes) Panel

Portugal.

By HeartGenetics, Genetics and Biotechnology, SA Genetic Study of Hereditary Thrombophilia (11 genes) that also includes the following genes: F12 F13A1 F2 F5 GP1BA MTHFR SERPINC1 SERPINE1 PROCR PROS1

More info about this panel

Factor XIII, deficiency Panel

Spain.

By Bioarray

This panel specifically test the F13A1 gene.

More info about this panel

FACTOR XIII DEFICIENCY Panel

Spain.

By Laboratorio de Genetica Clinica SL FACTOR XIII DEFICIENCY that also includes the following genes: F13A1 F13B

More info about this panel

Factor XIIIA Deficiency , Sequencing F13A1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the F13A1 gene.

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

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

Spain.

By Reference Laboratory Genetics Thrombophilia due to Factor XIII Deficiency , Massive Sequencing (NGS) F13A1, F13B Genes that also includes the following genes: F13A1 F13B

More info about this panel


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