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.
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
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
Search interest in F8
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 United States.
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 United States.
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 United States.
FVIII Inversions Panel
United States.
By Genomics - Bleeding Disorders BloodworksNW
This panel specifically test the F8 gene.
More info about this panel United States.
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 United States.
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 United States.
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 United States.
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 United States.
Hemophilia A Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the F8 gene.
More info about this panel Germany.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United Kingdom.
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 Netherlands.
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 Spain.
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 Spain.
Hemophilia A (sequence analysis of F8 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the F8 gene.
More info about this panel Portugal.
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 Portugal.
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 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 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 United States.
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 Germany.
Hemophilia A Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the F8 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.
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 United Kingdom.
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 Italy.
Hemophilia A Panel
Germany.
By bio.logis Center for Human Genetics Diagnosticum
This panel specifically test the F8 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.
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 India.
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 Belgium.
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 United States.
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 United States.
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 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.
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 Colombia.
F8 Panel
Austria.
By Division Human Genetics Medical University Innsbruck
This panel specifically test the F8 gene.
More info about this panel Austria.
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 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.
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 Spain.
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.
F8 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the F8 gene.
More info about this panel United States.
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 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 A Panel
Spain.
By Bioarray
This panel specifically test the F8 gene.
More info about this panel Spain.
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.
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 India.
HEMOPHILIA A Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the F8 gene.
More info about this panel Spain.
Hemophilia A, Sequencing F8 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the F8 gene.
More info about this panel Spain.
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 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 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 India.
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 India.
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 India.
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 Canada.
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 Canada.
Hemophilia A Panel
Iran.
By Tehran Medical Genetics Laboratory
This panel specifically test the F8 gene.
More info about this panel Iran.
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