Factor X deficiency is a rare genetic blood clotting disorder. It is also known as Stuart-Prower factor deficiency and congenital factor X deficiency. This condition occurs when there is a deficiency or absence of factor X, a critical protein involved in the blood clotting process.

Factor X deficiency can be inherited from parents who carry the abnormal gene, or it can occur as a spontaneous genetic mutation. The inheritance pattern of this condition can vary, and more research is needed to fully understand the genetic basis.

People with factor X deficiency may experience abnormal bleeding, both spontaneously and after injury or surgery. The severity of symptoms can range from mild to severe. In some cases, the condition may not be diagnosed until later in life, when bleeding complications occur.

More information about factor X deficiency, including the associated genes and inheritance patterns, can be found on websites such as OMIM (Online Mendelian Inheritance in Man), ClinicalTrials.gov, and PubMed. These resources provide scientific articles, patient support, and additional references for further research and learning.

Frequency

Factor X deficiency is a rare genetic condition. According to research, the frequency of this deficiency is not well known, but it is estimated to affect about 1 in 500,000 individuals worldwide.

OMIM (Online Mendelian Inheritance in Man) is a critical scientific resource that provides information on rare genetic diseases. Factor X deficiency is listed in OMIM with the gene names F10 and F10G, indicating the association of this condition with the Factor X gene.

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There are other research centers and studies focused on this rare condition. ClinicalTrials.gov is a valuable resource to learn more about ongoing clinical trials related to Factor X deficiency. Blood tests are commonly used to diagnose this condition, and genetic testing can provide additional information on the inheritance pattern and specific genetic mutations associated with Factor X deficiency.

For more information on the frequency and genetic testing for Factor X deficiency, additional references can be found in the scientific literature and other resources. These may include articles in PubMed and research studies cataloged in the OMIM database.

Support and advocacy organizations may also provide resources and information to patients and families affected by Factor X deficiency. These organizations can offer support groups, educational materials, and connections with medical professionals experienced in managing this condition and its associated challenges.

Causes

Factor X deficiency, also known as Stuart-Prower factor deficiency, is a rare genetic condition. It occurs when there is a lack or dysfunction of Factor X, a critical protein involved in the blood clotting process.

This condition can be congenital, meaning it is present from birth, or acquired later in life due to certain diseases or medications. Congenital Factor X deficiency is usually inherited in an autosomal recessive pattern, which means both parents must carry the faulty gene for their child to be affected.

There are several known genes associated with Factor X deficiency. Mutations in the F10 gene are the most common cause of congenital Factor X deficiency. Other genes, such as PROS1 and SERPINC1, have also been associated with this condition.

Factor X deficiency is a rare disease, and its exact frequency is not well known. It is estimated to occur in about 1 in 500,000 individuals, although this may vary in different populations.

Support and advocacy organizations can provide additional information and resources about Factor X deficiency. Scientific articles, clinical trials, and genetic testing resources can be found on websites like PubMed, OMIM, and ClinicalTrials.gov.

For more information about the causes of Factor X deficiency and related diseases, you can explore the catalog of articles and studies available on these resources.

Learn more about the gene associated with Factor X deficiency

Factor X deficiency, also known as Stuart-Prower factor deficiency, is a rare inherited bleeding disorder. This condition occurs when the blood lacks sufficient levels of factor X, a protein essential for blood clotting.

The gene associated with Factor X deficiency is called the F10 gene. Mutations in this gene are responsible for the production of a faulty or reduced amount of factor X, leading to the development of the condition.

If you want to learn more about the genetic causes of this condition and the inheritance pattern, you can explore the following resources:

  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. It provides detailed information about the genetic basis of diseases, including Factor X deficiency. You can search for the F10 gene and find related articles and studies.
  • PubMed: PubMed is a database of scientific articles. Searching for “Factor X deficiency” and “F10 gene” will provide you with additional research papers and scientific studies on this condition.
  • ClinicalTrials.gov: ClinicalTrials.gov lists ongoing clinical studies related to various diseases, including genetic disorders. You can search for “Factor X deficiency” to find any relevant clinical trials or studies that are currently recruiting patients.
  • Genetic advocacy groups: Genetic advocacy groups often provide resources and support for individuals and families affected by genetic conditions. Contacting these organizations can provide you with information about the latest research and available support for Factor X deficiency.
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Understanding the genetic basis of Factor X deficiency can help in the development of better diagnostic tools and treatment options for individuals with this rare condition. If you suspect that you or a loved one may have Factor X deficiency, genetic testing and consultation with a medical professional are critical for accurate diagnosis and management.

Remember, while this condition is rare, it is essential to raise awareness and support research initiatives to further our understanding of Factor X deficiency and improve the lives of those affected by it.

Inheritance

Factor X deficiency is a rare genetic condition that occurs with a frequency of about 1 in 500,000 to 1 in 1,000,000 people. It is caused by mutations in the F10 gene, which provides instructions for making factor X, a critical protein involved in the blood clotting process.

The inheritance pattern of factor X deficiency is autosomal recessive, which means that both parents must carry a copy of the mutated gene in order for their child to develop the condition. Individuals who carry only one copy of the mutated gene are typically unaffected carriers.

To learn more about the genetics of factor X deficiency, there are several resources available. The OMIM catalog provides genetic information about rare diseases, including factor X deficiency. PubMed is a scientific resource that offers access to a vast collection of research articles and clinical studies related to the condition. ClinicalTrials.gov is another valuable resource for finding additional information about ongoing clinical trials and research studies related to factor X deficiency.

Genetic testing can be performed to confirm a diagnosis of factor X deficiency and identify the specific genetic mutations associated with the condition. This information can be valuable for patient management, genetic counseling, and family planning.

In addition to genetic causes, factor X deficiency can also occur as a congenital condition with no known genetic basis. In these cases, the exact cause of the condition is unknown.

Support and advocacy organizations, such as the Factor X Deficiency Center and the World Federation of Hemophilia, provide support and resources for individuals and families affected by factor X deficiency. These organizations offer information about the condition, access to clinical trials and research studies, and support networks for patients and their families.

Other Names for This Condition

Factor X deficiency has several additional names, including:

  • Stuart-Prower factor deficiency
  • Christmas disease
  • PTA deficiency
  • Genetic prothrombin deficiency
  • FXD

This condition is also known as congenital factor X deficiency, as it is a rare genetic disease that is present at birth. It occurs when there is a deficiency in the factor X protein, which is crucial for normal blood clotting.

Factor X deficiency is inherited in an autosomal recessive manner, meaning that both parents must carry a mutated gene for their child to be affected. The condition can be caused by mutations in the F10 gene, which provides instructions for making the factor X protein. However, in some cases, the exact cause of the condition is unknown.

Factor X deficiency is a rare condition, with an estimated frequency of 1 in 500,000 individuals. It has been reported in people from various ethnic backgrounds.

If you or your child has been diagnosed with factor X deficiency, it is important to seek support and information from advocacy groups and genetic counseling resources. ClinicalTrials.gov and PubMed are valuable sources of scientific research articles and clinical trials related to this condition.

For more information about factor X deficiency and other rare genetic diseases, you can visit the resources provided by organizations such as the National Hemophilia Foundation and the World Federation of Hemophilia.

Additional Information Resources

For additional information about Factor X Deficiency, you may find the following resources helpful:

Genetic Resources

  • OMIM: Online Mendelian Inheritance in Man (OMIM) provides detailed information on the genetic causes, inheritance patterns, and clinical features of various genetic diseases, including Factor X Deficiency. Visit their website at omim.org for more information.
  • Genetics Home Reference: This website, a service of the U.S. National Library of Medicine, provides consumer-friendly information about the genetic factors associated with various conditions, including Factor X Deficiency. Visit their page on Factor X Deficiency at ghr.nlm.nih.gov/condition/factor-x-deficiency to learn more.

Support and Advocacy Groups

  • National Hemophilia Foundation: The National Hemophilia Foundation provides support and resources for individuals and families affected by bleeding disorders, including Factor X Deficiency. Visit their website at hemophilia.org to learn more.

Scientific Research and Clinical Trials

  • ClinicalTrials.gov: ClinicalTrials.gov is a comprehensive database of ongoing clinical studies and trials. Visit their website at clinicaltrials.gov and search for “Factor X Deficiency” to find information on current studies and clinical trials related to this condition.

Additional Resources

  • Factor X Deficiency Patient Information: For more information about the causes, symptoms, and treatment options for Factor X Deficiency, consult the patient information articles at PubMed.
  • Catalog of Rare Diseases: The Catalog of Rare Diseases is a centralized database that provides information on rare diseases and related genes. Visit their website at rarediseases.info.nih.gov for more information on Factor X Deficiency.

Remember to consult your healthcare provider or genetic counselor for critical testing and personalized advice regarding Factor X Deficiency.

Genetic Testing Information

Factor X deficiency is a rare condition, also known as Stuart-Prower deficiency, that affects the blood’s ability to clot properly. It is a congenital condition, meaning it is present from birth. The condition is caused by a mutation in the gene that produces Factor X, a critical protein in the blood clotting cascade.

Genetic testing plays a crucial role in diagnosing Factor X deficiency. It helps identify the specific gene mutation responsible for the condition and allows for genetic counseling and inheritance pattern analysis. Testing can be done through various methods, including gene sequencing and molecular analysis.

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The Genetic Testing Information for Factor X deficiency can be found in resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, which provides additional information on the genes and inheritance patterns associated with the condition. Other scientific databases such as PubMed also offer studies and research on Factor X deficiency.

For patients and families affected by Factor X deficiency, genetic testing can provide important information about the disease and support their decision-making process. It can help determine the frequency of the condition within a family and identify other individuals who may be at risk.

Advocacy and support groups, such as the National Organization for Rare Disorders (NORD) and the Factor X Deficiency Research and Clinical Trials Center, offer resources and clinical trial information for individuals with Factor X deficiency. ClinicalTrials.gov also provides information on ongoing clinical trials related to the condition.

In conclusion, genetic testing is a valuable tool for understanding and managing Factor X deficiency. It helps uncover the underlying causes of the condition and provides important information for patient care and research. By learning more about the genetic basis of Factor X deficiency, we can work towards improved diagnosis, treatment, and support for individuals affected by this rare disease.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides information about this rare congenital condition called Factor X deficiency. GARD is a resource supported by the National Institutes of Health (NIH) and is dedicated to providing reliable information and support to patients and their families.

Factor X deficiency is a rare genetic disorder that affects the blood’s ability to clot. It is also known by other names such as Stuart-Prower factor deficiency, FX deficiency, or factor X hemophilia. The condition is associated with mutations in the F10 gene, which provides instructions for producing a protein called factor X that plays a critical role in the blood clotting process.

Individuals with Factor X deficiency may experience symptoms such as excessive bleeding, easy bruising, nosebleeds, and prolonged bleeding after injuries or surgeries. The severity of the condition can vary, with some individuals having mild symptoms and others experiencing more critical issues.

To diagnose Factor X deficiency, genetic testing can be performed to identify mutations in the F10 gene. Additional testing, such as clotting factor assays and bleeding time tests, may also be conducted to evaluate the level of factor X in the blood and assess the clotting ability.

Treatment for Factor X deficiency typically involves replacement therapy, where missing factor X is provided to the patient through intravenous infusions. Other supportive measures, such as the use of antifibrinolytic agents to prevent clot breakdown and the management of bleeding episodes, may also be recommended.

Research studies and clinical trials are ongoing to better understand the causes and inheritance patterns of Factor X deficiency, as well as to develop improved treatment options for patients. The Genetic and Rare Diseases Information Center provides links to relevant resources, scientific articles, and clinicaltrialsgov for more information and support.

For more information about Factor X deficiency, you can visit the GARD website or explore related resources such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry. PubMed, a database of scientific articles, can also be accessed for in-depth research on this condition.

GARD also offers advocacy and support resources for patients and their families, including information on patient organizations and support groups. These resources can provide additional support and help individuals connect with others who may be dealing with similar challenges.

Resources Links
Genetic and Rare Diseases Information Center (GARD) Visit
OMIM (Online Mendelian Inheritance in Man) Visit
Genetic Testing Registry Visit
PubMed Visit
ClinicalTrials.gov Visit

Patient Support and Advocacy Resources

  • Factor X deficiency: This is a rare genetic condition that occurs when there is a deficiency of Factor X in the blood. It is a critical disease that requires support and information for both patients and their families.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive resource that provides information on genetic disorders, including Factor X deficiency.
  • Genetic testing: Genetic testing can help diagnose Factor X deficiency and determine the specific gene mutations associated with the condition. This testing can be done through research studies, clinical trials, and genetic testing laboratories.
  • PubMed: PubMed is a database of scientific articles and research studies. It can be a valuable resource to learn more about Factor X deficiency and other associated genetic diseases.
  • Factor X deficiency resources: There are various resources available for patients and their families to learn more about this rare condition. These resources provide information on the frequency, causes, symptoms, diagnosis, and management of Factor X deficiency.
  • Factor X deficiency support groups: Support groups can provide a helpful community for patients and their families. They offer a space to share experiences, ask questions, and find emotional support.
  • Additional resources: The National Hemophilia Foundation, a center for rare diseases, and other patient advocacy organizations may have additional resources for those seeking support and information on Factor X deficiency.

Research Studies from ClinicalTrialsgov

ClinicalTrials.gov is a valuable resource for researchers and patients looking for information on research studies related to Factor X deficiency and other rare diseases. This online catalog provides information about clinical trials, research studies, and support resources for patients and researchers alike.

Factor X deficiency is a rare genetic condition that affects the blood’s ability to clot properly. It is also known as Congenital Factor X deficiency and is caused by mutations in the F10 gene.

By visiting ClinicalTrials.gov, researchers and patients can find additional scientific information about Factor X deficiency and learn about the latest research studies being conducted. The website provides access to articles and references from PubMed, as well as information about genes associated with the condition from the Online Mendelian Inheritance in Man (OMIM) database.

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One critical resource available on ClinicalTrials.gov is the Rare Diseases Clinical Research Network (RDCRN) Data Management and Coordinating Center. This center supports research studies on rare diseases, including Factor X deficiency, and provides resources and support for patients and researchers.

Research studies listed on ClinicalTrials.gov often focus on testing new treatments and therapies for Factor X deficiency. These studies aim to improve the understanding of the condition and develop better ways to manage it.

In addition to the research studies, ClinicalTrials.gov also provides information on patient advocacy groups and support organizations for individuals with Factor X deficiency. These organizations offer support and resources for individuals and families affected by the condition.

Overall, ClinicalTrials.gov is an essential resource for individuals interested in learning more about Factor X deficiency and finding research studies related to this rare genetic condition. It offers a wealth of information and resources that can help improve the lives of individuals with Factor X deficiency and contribute to scientific advancements in the field.

Catalogue of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a catalog of genes and genetic disorders. It is a comprehensive resource that provides information on the genetics, clinical features, and inheritance patterns of various conditions.

OMIM contains a vast amount of information about rare genetic disorders, including Factor X deficiency, a condition that occurs when there is a lack of Factor X in the blood. This condition is inheritable and occurs in a rare frequency.

The catalog provides additional information about other rare diseases, such as congenital Factor X deficiency, and the genes associated with them. It also includes articles, scientific studies, and references to support research and genetic advocacy.

OMIM is a valuable resource for those seeking information on genetic conditions. It provides detailed descriptions of the genes and their functions, the clinical features of the diseases, and the inheritance patterns. This information can be used to support patient care, genetic testing, and research.

For more information on specific genes or diseases, OMIM provides links to other resources such as PubMed and ClinicalTrials.gov. These links allow users to access additional information, clinical trials, and research studies related to the condition of interest.

OMIM also provides support for genetic advocacy and research by offering resources and information on genetic conditions. By consolidating information from various sources, OMIM offers a comprehensive overview of the genetics, clinical features, and inheritance patterns of a wide range of diseases.

In summary, OMIM is a critical catalog of genes and diseases that provides valuable information for researchers, clinicians, and patients. It offers support for genetic advocacy, facilitates genetic testing, and promotes further research in the field of genetics.

Scientific Articles on PubMed

PubMed is a widely-used database for scientific articles in the field of medicine and life sciences. It provides a valuable resource for researchers, clinicians, and patients to access and learn about the latest studies and information regarding Factor X deficiency.

Factor X deficiency, also known as Stuart-Prower factor or Pseudohemophilia, is a rare genetic condition that affects blood clotting. It is caused by mutations in the F10 gene, which provides instructions for producing the Factor X protein. This protein is critical for the normal clotting of blood.

Scientific articles on PubMed provide comprehensive information on various aspects of Factor X deficiency, including its genetic causes, associated diseases, clinical studies, and inheritance patterns. These articles serve as an important source of knowledge and research for healthcare professionals and patients alike.

PubMed provides access to a variety of studies and resources such as clinical trials, genetic testing information, and additional references related to Factor X deficiency. Patients and healthcare providers can find critical information on the frequency of this rare condition, genetic counseling, and support resources for individuals and families affected by Factor X deficiency.

Researchers can access scientific articles on PubMed to learn more about the genes and inheritance patterns associated with Factor X deficiency. These articles can help advance our understanding of the condition, improve diagnostic methods, and develop targeted therapies.

PubMed also catalogs articles on other rare genetic diseases, providing a platform for researchers, advocacy groups, and other stakeholders to share their findings and collaborate on research efforts.

By exploring the scientific articles available on PubMed, one can gain a deeper understanding of Factor X deficiency, its associated diseases, and the ongoing research and advancements in the field. This information can help healthcare providers make informed decisions for patient care and contribute to the development of improved therapies for individuals with Factor X deficiency.

References

  • Names: Factor X Deficiency, Congenital Factor X Deficiency

  • PubMed: Research articles and information on Factor X Deficiency can be found on PubMed.

  • Center: Center for Inherited Blood Diseases is a valuable resource for information and support related to Factor X Deficiency.

  • Inheritance: Factor X Deficiency has an autosomal recessive inheritance pattern.

  • References: For additional references and scientific articles on Factor X Deficiency, refer to the following sources:

    • OMIM – Online Mendelian Inheritance in Man
    • ClinicalTrials.gov – Database of clinical studies
  • Resources: The Advocacy and Support organizations can provide more information and support for individuals with Factor X Deficiency.

  • ClinicalTrials.gov: Information on clinical trials related to Factor X Deficiency can be found on ClinicalTrials.gov.

  • Genes: Mutations in the F10 gene are associated with Factor X Deficiency.

  • Additional Learning: To learn more about this rare genetic condition, additional resources and information can be found from various sources.

  • Genetic Testing: Genetic testing can be done to confirm the diagnosis of Factor X Deficiency and determine the specific genetic cause.

  • More Information: For more information on Factor X Deficiency and related diseases, consult scientific articles and specialized books.