F12 gene related symptoms and diseases

All the information presented here about the F12 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.

Top 5 symptoms and clinical features associated to F12 gene

Symptoms // Phenotype % Cases
Pain Very Common - Between 80% and 100% cases
Abdominal pain Very Common - Between 80% and 100% cases
Edema Very Common - Between 80% and 100% cases
Retinal vein occlusion Uncommon - Between 30% and 50% cases
Pharyngeal edema Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with F12 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Intestinal edema
  • Facial edema
  • Angioedema
  • Upper airway obstruction
  • Episodic abdominal pain
  • Urticaria
  • Vomiting
  • Prolonged whole-blood clotting time

And 12 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to F12 gene

Here you will find a list of rare diseases related to the F12. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CONGENITAL FACTOR XII DEFICIENCY


Alternate names

CONGENITAL FACTOR XII DEFICIENCY Is also known as hageman factor deficiency, f12 deficiency, congenital hageman factor deficiency, haf deficiency

Description

Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions.

Most common symptoms of CONGENITAL FACTOR XII DEFICIENCY

  • Pain
  • Edema
  • Headache
  • Abdominal pain
  • Abnormal bleeding


More info about CONGENITAL FACTOR XII DEFICIENCY

SOURCES: ORPHANET MESH OMIM

HEREDITARY ANGIOEDEMA TYPE 3


Alternate names

HEREDITARY ANGIOEDEMA TYPE 3 Is also known as hae 3, inherited estrogen-dependent angioneurotic edema, inherited estrogen-associated angioedema, inherited estrogen-associated angioneurotic edema, hae iii, hereditary angioedema with normal c1 inhibitor activity, hae-iii, angioneurotic edema, hereditary, with

Description

Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.

Most common symptoms of HEREDITARY ANGIOEDEMA TYPE 3

  • Pain
  • Edema
  • Vomiting
  • Abdominal pain
  • Urticaria


More info about HEREDITARY ANGIOEDEMA TYPE 3

SOURCES: OMIM MESH ORPHANET


Potential gene panels for F12 gene

FXII deficiency Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the F12 gene.

More info about this panel

Hereditary angioedema type 1-3 Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary angioedema type 1-3 that also includes the following genes: SERPING1 F12

More info about this panel

F12 Select Exons Sequencing Panel

United States.

By GeneDx

This panel specifically test the F12 gene.

More info about this panel

F12 mutation analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam

This panel specifically test the F12 gene.

More info about this panel

F12. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the F12 gene.

More info about this panel

F12. Sequencing of the exons 9 Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the F12 gene.

More info about this panel

Factor XII deficiency (sequence analysis of F12 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the F12 gene.

More info about this panel

Hereditary angioedema type 3 (sequence analysis of F12 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the F12 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

Factor XII Deficiency Panel

Italy.

By Medical Genetics Laboratory Bambino Gesù Children's Hospital

This panel specifically test the F12 gene.

More info about this panel

Factor XII deficiency Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum

This panel specifically test the F12 gene.

More info about this panel

Single gene testing F12 Panel

Germany.

By CeGaT GmbH

This panel specifically test the F12 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

Hereditary Angioedema Type III Panel

Germany.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics

This panel specifically test the F12 gene.

More info about this panel

Angioedema, hereditary, type III Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the F12 gene.

More info about this panel

Factor 12 deficiency Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the F12 gene.

More info about this panel

Angioedema, hereditary, type III Panel

Slovakia.

By MedGene

This panel specifically test the F12 gene.

More info about this panel

Factor 12 deficiency Panel

Slovakia.

By MedGene

This panel specifically test the F12 gene.

More info about this panel

Angioedema type 3, Hereditary: F12 gene mutation analysis (p.Thr309Lys) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the F12 gene.

More info about this panel

Factor XII deficiency: F12 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the F12 gene.

More info about this panel

F12 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the F12 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

Hereditary angioedema Panel

Spain.

By Bioarray

This panel specifically test the F12 gene.

More info about this panel

Factor XII, deficiency Panel

Spain.

By Bioarray

This panel specifically test the F12 gene.

More info about this panel

HEREDITARY ANGIOEDEMA, TYPE 3 Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the F12 gene.

More info about this panel

FACTOR XII DEFICIENCY Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the F12 gene.

More info about this panel

ATYPICAL HEMOLYTIC UREMIC SYNDROME: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL ATYPICAL HEMOLYTIC UREMIC SYNDROME: NGS PANEL that also includes the following genes: CFB THBD C1S C2 C3 C3AR1 C8A C9 CFHR4 CFHR3

More info about this panel

Congenital Factor XII Deficiency , Sequencing F12 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the F12 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


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