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.
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
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
Search interest in F12
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 Germany.
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 Germany.
F12 Select Exons Sequencing Panel
United States.
By GeneDx
This panel specifically test the F12 gene.
More info about this panel United States.
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 Netherlands.
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 Spain.
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 Spain.
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 Portugal.
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 Portugal.
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 United States.
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 United States.
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 Italy.
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 Germany.
Single gene testing F12 Panel
Germany.
By CeGaT GmbH
This panel specifically test the F12 gene.
More info about this panel Germany.
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 Germany.
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 Germany.
Angioedema, hereditary, type III Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the F12 gene.
More info about this panel Austria.
Factor 12 deficiency Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the F12 gene.
More info about this panel Austria.
Angioedema, hereditary, type III Panel
Slovakia.
By MedGene
This panel specifically test the F12 gene.
More info about this panel Slovakia.
Factor 12 deficiency Panel
Slovakia.
By MedGene
This panel specifically test the F12 gene.
More info about this panel Slovakia.
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 Spain.
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 Spain.
F12 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the F12 gene.
More info about this panel United States.
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 Finland.
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 Finland.
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 Finland.
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 Portugal.
Hereditary angioedema Panel
Spain.
By Bioarray
This panel specifically test the F12 gene.
More info about this panel Spain.
Factor XII, deficiency Panel
Spain.
By Bioarray
This panel specifically test the F12 gene.
More info about this panel Spain.
HEREDITARY ANGIOEDEMA, TYPE 3 Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the F12 gene.
More info about this panel Spain.
FACTOR XII DEFICIENCY Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the F12 gene.
More info about this panel Spain.
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 Spain.
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 Spain.
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 Spain.
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