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.

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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

SOURCES: OMIM ORPHANET

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

SOURCES: MESH OMIM

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


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

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

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

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

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

Hemophilia B Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the F9 gene.

More info about this panel

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

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

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

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

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

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

Hemophilia B (sequence analysis of F9 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the F9 gene.

More info about this panel

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

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

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

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

Hemophilia B Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the F9 gene.

More info about this panel

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

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

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

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

Hemophilia B Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum

This panel specifically test the F9 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

F9 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the F9 gene.

More info about this panel

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

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

Hemophilia B Panel

Spain.

By Bioarray

This panel specifically test the F9 gene.

More info about this panel

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

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

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

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

HEMOPHILIA B Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the F9 gene.

More info about this panel

Hemophilia B, Sequencing F9 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the F9 gene.

More info about this panel

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

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

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

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


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