F8 gene related symptoms and diseases

All the information presented here about the F8 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to F8 gene

Symptoms // Phenotype % Cases
Pain Rare - less than 30% cases
Joint swelling Rare - less than 30% cases
Bleeding with minor or no trauma Rare - less than 30% cases
Oral cavity bleeding Rare - less than 30% cases
Intramuscular hematoma Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with F8 gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Persistent bleeding after trauma
  • Intraventricular hemorrhage
  • Reduced factor VIII activity
  • Spontaneous hematomas
  • Joint hemorrhage
  • Stomatitis
  • Prolonged partial thromboplastin time
  • Dyschromatopsia

And 17 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to F8 gene

Here you will find a list of rare diseases related to the F8. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HEMOPHILIA A; HEMA


Alternate names

HEMOPHILIA A; HEMA Is also known as hemophilia, classic

Description

Hemophilia A is an X-linked recessive bleeding disorder caused by a deficiency in the activity of coagulation factor VIII. The disorder is clinically heterogeneous with variable severity, depending on the plasma levels of coagulation factor VIII: mild, with levels 6 to 30% of normal; moderate, with levels 2 to 5% of normal; and severe, with levels less than 1% of normal. Patients with mild hemophilia usually bleed excessively only after trauma or surgery, whereas those with severe hemophilia have an annual average of 20 to 30 episodes of spontaneous or excessive bleeding after minor trauma, particularly into joints and muscles. These symptoms differ substantially from those of bleeding disorders due to platelet defects or von Willebrand disease (OMIM ), in which mucosal bleeding predominates (review by Mannucci and Tuddenham, 2001).

Most common symptoms of HEMOPHILIA A; HEMA

  • Pain
  • Anemia
  • Flexion contracture
  • Peripheral neuropathy
  • Blindness


More info about HEMOPHILIA A; HEMA

SOURCES: ORPHANET OMIM

SEVERE HEMOPHILIA A


Alternate names

SEVERE HEMOPHILIA A Is also known as severe factor viii deficiency

Description

Severe hemophilia A is a form of hemophilia A (see this term) characterized by a large deficiency of factor VIII 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 A

SOURCES: ORPHANET

MILD HEMOPHILIA A


Alternate names

MILD HEMOPHILIA A Is also known as mild factor viii deficiency

Description

Mild hemophilia A is a form of hemophilia A (see this term) characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.


More info about MILD HEMOPHILIA A

SOURCES: ORPHANET

MODERATELY SEVERE HEMOPHILIA A


Alternate names

MODERATELY SEVERE HEMOPHILIA A Is also known as moderately severe factor viii deficiency

Description

Moderately severe hemophilia A is a form of hemophilia A (see this term) characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction.


More info about MODERATELY SEVERE HEMOPHILIA A

SOURCES: ORPHANET

SYMPTOMATIC FORM OF HEMOPHILIA A IN FEMALE CARRIERS


Description

Symptomatic hemophilia A in female carriers is a form of hemophilia A (see this term) that manifests in some women with mutations in the F8 gene (Xq28), encoding coagulation factor VIII.


More info about SYMPTOMATIC FORM OF HEMOPHILIA A IN FEMALE CARRIERS

SOURCES: ORPHANET


Potential gene panels for F8 gene

Factor VIII full gene sequencing Panel

United States.

By Clinical Molecular Diagnostic Laboratory City of Hope National Medical Center

This panel specifically test the F8 gene.

More info about this panel

Factor VIII intron 22 inversion Panel

United States.

By Clinical Molecular Diagnostic Laboratory City of Hope National Medical Center

This panel specifically test the F8 gene.

More info about this panel

Factor VIII intron 1 inversion Panel

United States.

By Clinical Molecular Diagnostic Laboratory City of Hope National Medical Center

This panel specifically test the F8 gene.

More info about this panel

FVIII Inversions Panel

United States.

By Genomics - Bleeding Disorders BloodworksNW

This panel specifically test the F8 gene.

More info about this panel

DNA Hemophilia A mutation evaluation Panel

United States.

By Genomics - Bleeding Disorders BloodworksNW

This panel specifically test the F8 gene.

More info about this panel

Platelet Disorders Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Platelet Disorders that also includes the following genes: RUNX1 STIM1 TBXA2R TBXAS1 USF1 VPS33B VWF WAS GP6 HPS3

More info about this panel

Hemophilia A (Inversion Only) Panel

United States.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine

This panel specifically test the F8 gene.

More info about this panel

Hemophilia A Panel

United States.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine

This panel specifically test the F8 gene.

More info about this panel

Hemophilia A Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the F8 gene.

More info about this panel

Hemophilia A (F8) 2 Inversions Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the F8 gene.

More info about this panel

Hemophilia A (F8) 2 Inversions, Fetal Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the F8 gene.

More info about this panel

Hemophilia A (F8) Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the F8 gene.

More info about this panel

Hemophilia A (F8) Sequencing Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the F8 gene.

More info about this panel

Hemophilia A (F8) 2 Inversions with Reflex to Sequencing and Reflex to Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the F8 gene.

More info about this panel

Haemophilia A Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust

This panel specifically test the F8 gene.

More info about this panel

Factor VIII mutation analysis Panel

Netherlands.

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

This panel specifically test the F8 gene.

More info about this panel

F8. Detection of the intron 22 inversion Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the F8 gene.

More info about this panel

F8. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the F8 gene.

More info about this panel

Hemophilia A (sequence analysis of F8 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the F8 gene.

More info about this panel

Hemophilia A (deletion/duplication analysis on F8 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the F8 gene.

More info about this panel

Hemophilia A Panel

India.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital

This panel specifically test the F8 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 A via F8 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the F8 gene.

More info about this panel

Hemophilia A Panel

Germany.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München

This panel specifically test the F8 gene.

More info about this panel

Hemophilia A Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the F8 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

F8 gene analysis Panel

United Kingdom.

By Molecular Haemostasis & Thrombosis GSTS Pathology - Guy's and St. Thomas' NHS Foundation Trust

This panel specifically test the F8 gene.

More info about this panel

Hemophilia A Panel

Italy.

By Medical Genetics Laboratory Bambino Gesù Children's Hospital

This panel specifically test the F8 gene.

More info about this panel

Hemophilia A Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum

This panel specifically test the F8 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

Hemophilia-A Panel

India.

By Molecular Diagnostics Division Centre for Cellular and Molecular Biology

This panel specifically test the F8 gene.

More info about this panel

Hemophilia A Panel

Belgium.

By Center for Human Genetics Cliniques Universitaires Saint Luc

This panel specifically test the F8 gene.

More info about this panel

Factor VIII (F8) Inversion Analysis Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti

This panel specifically test the F8 gene.

More info about this panel

Factor VIII (F8) Sequence Analysis Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti

This panel specifically test the F8 gene.

More info about this panel

Factor VIII (F8) Severe Hemophilia A Analysis-Reflex Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti

This panel specifically test the F8 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

Haemophilia A Panel

Colombia.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva

This panel specifically test the F8 gene.

More info about this panel

F8 Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the F8 gene.

More info about this panel

Hemophilia A Panel

United Kingdom.

By Regional Molecular Haemostasis Laboratory Birmingham Childrens Hospital NHS Foundation Trust

This panel specifically test the F8 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

Hemophilia A: F8 gene analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the F8 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

F8 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the F8 gene.

More info about this panel

Hemophilia A (Factor VIII) Inversions Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano

This panel specifically test the F8 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 A Panel

Spain.

By Bioarray

This panel specifically test the F8 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

Mutation analysis of intron 22 inversion mutation in F8 gene for Hemophilia A Panel

India.

By Diagnostics Division Centre for DNA Fingerprinting and Diagnostics

This panel specifically test the F8 gene.

More info about this panel

HEMOPHILIA A Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the F8 gene.

More info about this panel

Hemophilia A, Sequencing F8 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the F8 gene.

More info about this panel

Hemophilia A , Deletions-Duplications (MLPA) F8 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the F8 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 A: Intron 1 and 22 inversion mutation Panel

India.

By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics

This panel specifically test the F8 gene.

More info about this panel

Hemophilia A:Carrier analysis for intragenic markers (Bcl1, Xbal, In 13 and 22) Panel

India.

By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics

This panel specifically test the F8 gene.

More info about this panel

Hemophilia A: Prenatal Diagnosis Panel

India.

By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics

This panel specifically test the F8 gene.

More info about this panel

Factor VIII Deficiency: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the F8 gene.

More info about this panel

Factor VIII Deficiency: gene deletion/duplication Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the F8 gene.

More info about this panel

Hemophilia A Panel

Iran.

By Tehran Medical Genetics Laboratory

This panel specifically test the F8 gene.

More info about this panel


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