F9 gene related symptoms and diseases
All the information presented here about the F9 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to F9 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Deep venous thrombosis | Rare - less than 30% cases |
| Immunodeficiency | Rare - less than 30% cases |
| Persistent bleeding after trauma | Rare - less than 30% cases |
| Hypercoagulability | Rare - less than 30% cases |
| Venous thrombosis | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with F9 gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Abnormality of blood and blood-forming tissues
- Atrial fibrillation
- Abnormality of metabolism/homeostasis
- Cephalohematoma
- Delayed onset bleeding
- Prolonged bleeding after dental extraction
- Prolonged whole-blood clotting time
- Reduced factor IX activity
And 19 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to F9 gene
Here you will find a list of rare diseases related to the F9. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HEMOPHILIA B; HEMB
Alternate names
HEMOPHILIA B; HEMB Is also known as christmas disease, factor ix deficiency, f9 deficiency, plasma thromboplastin component deficiency
Description
Hemophilia B due to factor IX deficiency is phenotypically indistinguishable from hemophilia A (OMIM ), which results from deficiency of coagulation factor VIII (F8 ). The classic laboratory findings in hemophilia B include a prolonged activated partial thromboplastin time (aPTT) and a normal prothrombin time (PT) (Lefkowitz et al., 1993).Early studies made a distinction between cross-reactive-material (CRM)-negative and CRM-positive hemophilia B mutants. This classification referred to detection of the F9 antigen in plasma, even in the presence of decreased F9 activity. Detection of the antigen indicated the presence of a dysfunctional F9 protein. Roberts et al. (1968) found that about 90% of patients with hemophilia B were CRM-negative, whereas about 10% were CRM-positive. However, Bertina and Veltkamp (1978) found that a rather large proportion of the hemophilia B patients could be characterized as hemophilia B CRM+. They identified 14 cases of hemophilia B CRM+ from 11 families among a group of 33 patients. After immunologic and activity comparisons, they found at least 7 different factor IX variants. Bertina and Veltkamp (1978) noted the high heterogeneity within this group. In an editorial on variants of vitamin K-dependent coagulation factors, Bertina et al. (1979) stated that 9 defective variants of factor II, 5 variants of factor X, and many variants (about 180 pedigrees) of factor IX had been identified. At least one variant of factor VII (Padua) was also known.
Most common symptoms of HEMOPHILIA B; HEMB
- Immunodeficiency
- Leukemia
- Hematuria
- Abnormal bleeding
- Gastrointestinal hemorrhage
More info about HEMOPHILIA B; HEMB
COUMARIN RESISTANCE
Alternate names
COUMARIN RESISTANCE Is also known as coumarin, poor metabolism of, warfarin resistance
Description
Warfarin is a widely prescribed anticoagulant for the prevention of thromboembolic diseases for subjects with deep vein thrombosis, atrial fibrillation, or mechanical heart valve replacement (Yuan et al., 2005). The dose requirement is highly variable, both interindividually and interethnically.Variation in the VKORC1 gene is believed to be the most important individual predictor of warfarin dose, accounting for about 30% of the variance observed in dosing (Ross et al., 2010).
Most common symptoms of COUMARIN RESISTANCE
- Abnormality of metabolism/homeostasis
- Atrial fibrillation
- Abnormality of blood and blood-forming tissues
- Deep venous thrombosis
More info about COUMARIN RESISTANCE
SOURCES: OMIM
THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8
Most common symptoms of THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8
- Venous thrombosis
- Deep venous thrombosis
- Hypercoagulability
- Abnormality of the intrinsic pathway
More info about THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8
SEVERE HEMOPHILIA B
Alternate names
SEVERE HEMOPHILIA B Is also known as severe factor ix deficiency
Description
Severe hemophilia B is a form of hemophilia B (see this term) characterized by a large deficiency of factor IX leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.
More info about SEVERE HEMOPHILIA B
SOURCES: ORPHANET
MODERATELY SEVERE HEMOPHILIA B
Alternate names
MODERATELY SEVERE HEMOPHILIA B Is also known as moderately severe factor ix deficiency
Description
Moderately severe hemophilia B is a form of hemophilia B (see this term) characterized by factor IX deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.
More info about MODERATELY SEVERE HEMOPHILIA B
SOURCES: ORPHANET
MILD HEMOPHILIA B
Alternate names
MILD HEMOPHILIA B Is also known as mild factor ix deficiency
Description
Mild hemophilia B is a form of hemophilia B (see this term) characterized by a small deficiency of factor IX leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.
More info about MILD HEMOPHILIA B
SOURCES: ORPHANET
SYMPTOMATIC FORM OF HEMOPHILIA B IN FEMALE CARRIERS
Description
Symptomatic hemophilia B in female carriers is a form of hemophilia B (see this term) that manifests in some women with mutations in the F9 gene (Xq28), encoding coagulation factor IX.
More info about SYMPTOMATIC FORM OF HEMOPHILIA B IN FEMALE CARRIERS
SOURCES: ORPHANET
Search interest in F9
Potential gene panels for F9 gene
Factor IX full gene sequencing Panel
United States.
By Clinical Molecular Diagnostic Laboratory City of Hope National Medical Center
This panel specifically test the F9 gene.
More info about this panel United States.
DNA Hemophilia B Mutation Evaluation Panel
United States.
By Genomics - Bleeding Disorders BloodworksNW
This panel specifically test the F9 gene.
More info about this panel United States.
Hemophilia B Panel
United States.
By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine
This panel specifically test the F9 gene.
More info about this panel United States.
F9 Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the F9 gene.
More info about this panel United States.
F9 Deletion/duplication analysis Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the F9 gene.
More info about this panel United States.
Hemophilia B Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the F9 gene.
More info about this panel Germany.
Hemophilia B (F9) Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the F9 gene.
More info about this panel United States.
Hemophilia B (F9) Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the F9 gene.
More info about this panel United States.
Hemophilia B (F9) Sequencing Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the F9 gene.
More info about this panel United States.
Haemophilia B Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
This panel specifically test the F9 gene.
More info about this panel United Kingdom.
F9. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the F9 gene.
More info about this panel Spain.
Hemophilia B Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the F9 gene.
More info about this panel United States.
Hemophilia B (sequence analysis of F9 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the F9 gene.
More info about this panel Portugal.
Hemophila B Panel
India.
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the F9 gene.
More info about this panel India.
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.
Hemophilia B via F9 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the F9 gene.
More info about this panel United States.
Hemophilia B Panel
Germany.
By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München
This panel specifically test the F9 gene.
More info about this panel Germany.
Hemophilia B Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the F9 gene.
More info about this panel Germany.
Thrombophilia, X-linked, due to factor IX defect Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the F9 gene.
More info about this panel Germany.
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 Germany.
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 Germany.
Haemophilia B Panel
United Kingdom.
By Molecular Haemostasis & Thrombosis GSTS Pathology - Guy's and St. Thomas' NHS Foundation Trust
This panel specifically test the F9 gene.
More info about this panel United Kingdom.
Hemophilia B Panel
Italy.
By Medical Genetics Laboratory Bambino Gesù Children's Hospital
This panel specifically test the F9 gene.
More info about this panel Italy.
Hemophilia B Panel
Germany.
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the F9 gene.
More info about this panel Germany.
Hemophilia-B Panel
India.
By Molecular Diagnostics Division Centre for Cellular and Molecular Biology
This panel specifically test the F9 gene.
More info about this panel India.
Hemophilia B Panel
Belgium.
By Center for Human Genetics Cliniques Universitaires Saint Luc
This panel specifically test the F9 gene.
More info about this panel Belgium.
Factor IX (F9) Sequence Analysis Panel
United States.
By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti
This panel specifically test the F9 gene.
More info about this panel United States.
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 United States.
Hemophilia B Panel
United Kingdom.
By Regional Molecular Haemostasis Laboratory Birmingham Childrens Hospital NHS Foundation Trust
This panel specifically test the F9 gene.
More info about this panel United Kingdom.
qCarrier Plus Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panel Spain.
Factor IX (hemophilia B): F9 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the F9 gene.
More info about this panel Spain.
Hemophilia B: F9 gene deletions-duplications analysis (MLPA) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the F9 gene.
More info about this panel Spain.
Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6
More info about this panel United States.
Hemophilia B, Factor IX Gene Mutation Screening Panel
United States.
By Mayo Clinic Genetic Testing Laboratories Mayo Clinic
This panel specifically test the F9 gene.
More info about this panel United States.
Coagulation NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Coagulation NGS Panel that also includes the following genes: VWF F8 F9 GP1BA
More info about this panel United States.
F9 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the F9 gene.
More info about this panel United States.
X-chromosome High Resolution microarray analysis Panel
United States.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2
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.
Hemophilia B Panel
Spain.
By Bioarray
This panel specifically test the F9 gene.
More info about this panel Spain.
Hemophilia B (F9) Targeted Testing Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the F9 gene.
More info about this panel United States.
Exome Panel
Brazil.
By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. Exome that also includes the following genes: RPL10 ATXN1 ATXN2 ATXN8OS SEMA3E GEMIN2 BRAF BRCA1 BRCA2 SOX9
More info about this panel Brazil.
Rapid microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
High-Resolution Rapid Microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
HEMOPHILIA B Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the F9 gene.
More info about this panel Spain.
Hemophilia B, Sequencing F9 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the F9 gene.
More info about this panel Spain.
Hemophilia B, Deletions-Duplications (MLPA) F9 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the F9 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.
Hemophilia B: Carrier analysis with intragenic markers (Hhal, Ddel, Taq1) Panel
India.
By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics
This panel specifically test the F9 gene.
More info about this panel India.
Factor IX Deficiency (also known as Christmas Disease): gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the F9 gene.
More info about this panel Canada.
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