Inherited thyroxine-binding globulin deficiency is a rare genetic condition that affects the production of a protein called thyroxine-binding globulin. Thyroxine-binding globulin is a protein that helps transport thyroid hormones in the blood. This condition reduces the levels of thyroxine-binding globulin, usually resulting in reduced thyroid hormone levels in the body.

Causes of inherited thyroxine-binding globulin deficiency can vary, and it is often associated with genetic mutations in the thyroxine-binding globulin gene. These mutations can result in different forms of the deficiency, each with its own specific characteristics and impact on the patient.

Additional information about this condition, including its frequency, inheritance patterns, and associated disorders, can be found in scientific catalog resources such as OMIM and PubMed. These resources provide genetic testing information, articles, and references for further study and support for patients and advocacy groups.

It is important for individuals with this condition to consult with a healthcare professional for proper diagnosis and management. Genetic testing can be used to confirm the diagnosis and identify the specific gene mutations involved. With the support of medical professionals and genetic information, individuals with inherited thyroxine-binding globulin deficiency can learn more about their condition and find resources to help manage the disorder.

Frequency

Information about the frequency of inherited thyroxine-binding globulin deficiency is limited. This condition is thought to be rare, but its true prevalence is unknown. The genetic causes of this deficiency have been identified in more than 50 families with affected individuals. In these families, the condition is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations.

The frequency of inherited thyroxine-binding globulin deficiency may vary in different populations due to genetic and environmental factors. Currently, there is no catalog or official registry available that provides a comprehensive view of the frequency of this condition worldwide.

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Scientific articles and case reports help provide some information about the frequency of inherited thyroxine-binding globulin deficiency. However, due to the rarity of this condition, there may not be a large amount of published data available.

For more detailed information about the frequency of inherited thyroxine-binding globulin deficiency and associated gene mutations, it is recommended to consult specialized genetic databases/catalogs such as OMIM (Online Mendelian Inheritance in Man) or PubMed. These resources may have more up-to-date information on this topic.

Patient advocacy groups and support organizations for thyroid disorders may also have information about the frequency of inherited thyroxine-binding globulin deficiency. These organizations can provide additional resources and support for individuals and families affected by this condition.

References:

  1. Thyroxine-Binding Globulin Deficiency: MedlinePlus Genetics. (n.d.). Retrieved from https://medlineplus.gov/genetics/condition/thyroxine-binding-globulin-deficiency/#frequency
  2. Inherited thyroxine-binding globulin deficiency – Genetics Home Reference – NIH. (n.d.). Retrieved from https://ghr.nlm.nih.gov/condition/inherited-thyroxine-binding-globulin-deficiency#frequency

Causes

Inherited thyroxine-binding globulin deficiency is typically caused by genetic mutations that affect the production or function of thyroxine-binding globulin (TBG) in the body.

Additional genetic mutations, along with certain environmental factors, may also play a role in the development of this condition. However, the exact underlying causes and contributing factors are not fully understood.

Studies have shown that inherited thyroxine-binding globulin deficiency can be inherited in an autosomal dominant or autosomal recessive pattern. This means that individuals with one copy of the mutated gene (heterozygotes) have a 50% chance of passing the condition on to their children, while individuals with two copies of the mutated gene (homozygotes) have a higher likelihood of having a severe form of the condition.

Patients with inherited thyroxine-binding globulin deficiency may also have other associated disorders or diseases, usually related to thyroid function or the production of other proteins. These conditions can include hypothyroidism or hyperthyroidism.

Genetic testing can help identify the specific genes associated with this condition and provide more information about its inheritance patterns. It is important for patients and their families to learn more about this condition and the scientific advances in its understanding.

  • For more scientific articles about inherited thyroxine-binding globulin deficiency, visit PubMed.
  • For resources and advocacy information, visit OMIM.
  • For frequency data and patient support, visit Genecards.
  • References:
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See also  RPS24 gene

Learn more about the gene associated with Inherited thyroxine-binding globulin deficiency

Inherited thyroxine-binding globulin deficiency is a genetic condition that affects the levels of thyroxine-binding globulin (TBG) in the blood. TBG is a protein that helps transport thyroid hormones in the body. This condition is usually inherited in an autosomal recessive manner.

The gene associated with Inherited thyroxine-binding globulin deficiency is known as the TBG gene. This gene provides instructions for making the TBG protein. Mutations in the TBG gene can lead to reduced levels of functional TBG, resulting in the signs and symptoms of this condition.

To learn more about the TBG gene and its role in Inherited thyroxine-binding globulin deficiency, you can explore the resources listed below:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. You can find more information about the TBG gene and Inherited thyroxine-binding globulin deficiency on the OMIM website.
  • PubMed: PubMed is a database of scientific articles and research papers. Searching for “Inherited thyroxine-binding globulin deficiency” or “TBG gene” on PubMed can provide you with additional scientific information.
  • Patient advocacy groups: Patient advocacy groups for genetic conditions can provide support, information, and resources for individuals and families affected by Inherited thyroxine-binding globulin deficiency. They may have articles, FAQs, and other helpful materials available on their websites.

Understanding the genetic basis of Inherited thyroxine-binding globulin deficiency can help in the diagnosis, testing, and management of the condition. By learning more about the gene associated with this disorder, you can gain a better understanding of its causes, inheritance patterns, and associated symptoms. This knowledge can also contribute to ongoing research efforts and the development of potential treatments or therapies.

Inheritance

The inheritance pattern of inherited thyroxine-binding globulin deficiency is autosomal recessive. This means that both copies of the gene responsible for producing the thyroxine-binding globulin protein must have mutations in order for the condition to be present. Individuals with only one copy of the mutated gene are carriers and typically do not show symptoms of the disorder.

Additional information about the inheritance of this condition can be found on the OMIM (Online Mendelian Inheritance in Man) catalog, a comprehensive catalog of human genes and genetic disorders. OMIM provides detailed information on the genes associated with inherited thyroxine-binding globulin deficiency, as well as references to scientific articles and other resources for further learning.

Genetic testing can be done to confirm a diagnosis of inherited thyroxine-binding globulin deficiency. This can help support the patient and provide information about the condition’s inheritance pattern. Testing can identify the specific gene mutations responsible for the deficiency and can also determine if other forms of the condition are present.

The frequency of inherited thyroxine-binding globulin deficiency is not well documented, but it is considered to be a rare disorder. Advocacy organizations and patient support groups can provide additional information and resources for individuals and families affected by this condition.

Reduced levels or mutations in the thyroxine-binding globulin protein can also be associated with other thyroid disorders. More information about these related disorders and their inheritance can be found on the OMIM catalog and PubMed, a database of scientific articles.

Other Names for This Condition

Inherited thyroxine-binding globulin deficiency is also known by several other names, depending on the article or scientific publication. Some of these alternative names include:

  • Deficiency of thyroxine-binding globulin
  • TBG deficiency
  • Decreased thyroxine-binding globulin
  • Reduced thyroxine-binding globulin
  • Thyroxine-binding globulin deficiency

These various names provide additional information about the condition, its genetic causes, and the associated thyroid hormone binding proteins. They can be found in articles from PubMed, OMIM, and other scientific resources and advocacy organizations where more information about inherited thyroxine-binding globulin deficiency can be obtained. The frequency and inheritance patterns of this condition have been identified, and testing of the affected genes can be done to confirm the diagnosis. Learning about this condition and its other names can lead to a better understanding of the disorder and help support the affected individuals and their families.

Additional Information Resources

Patients and families with inherited thyroxine-binding globulin deficiency can find more information and support through various resources. Here are some recommended resources to learn more about this condition and obtain additional support:

  • OMIM Database: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive genetic information on various diseases and disorders, including inherited thyroxine-binding globulin deficiency. It includes detailed gene and protein data, as well as links to scientific articles and other resources.
  • Genetic Testing: Genetic testing can help identify the specific gene defects associated with inherited thyroxine-binding globulin deficiency. Patients and families can consult with genetic counselors or healthcare professionals to learn more about the testing process and its implications.
  • Advocacy Organizations: Several advocacy organizations focused on thyroid diseases and related disorders can provide support and information for patients and their families. These organizations often offer educational materials, support groups, and resources to help individuals navigate their condition.
  • Scientific Articles: The scientific literature contains numerous articles that discuss the causes, inheritance patterns, and reduction of thyroxine-binding globulin proteins. Consulting these articles can provide more in-depth information for individuals interested in learning about the underlying mechanisms of this condition.
  • PubMed: PubMed, a database of biomedical literature, is an excellent resource to search for relevant articles and research papers on inherited thyroxine-binding globulin deficiency. It can provide access to the latest scientific findings and discoveries in the field.
  • Genetic Forms Catalog: Some websites and databases offer catalogs of different genetic forms and disorders. These catalogs may include information on inherited thyroxine-binding globulin deficiency, including its different forms and associated genes.
See also  DHCR24 gene

By utilizing these resources, patients and their families can gain a better understanding of inherited thyroxine-binding globulin deficiency and access the necessary information and support for managing this condition.

Genetic Testing Information

Genetic testing is a diagnostic tool that allows healthcare professionals to identify inherited genetic disorders. In the case of inherited thyroxine-binding globulin deficiency, genetic testing can help determine if an individual has a mutation in the gene responsible for producing thyroxine-binding globulin (TBG) proteins.

Individuals with this deficiency have reduced levels of TBG proteins, which play a crucial role in transporting thyroid hormones. This condition can cause symptoms and health problems related to thyroid hormone imbalance.

Genetic testing for inherited thyroxine-binding globulin deficiency can be done to confirm a diagnosis in individuals who have symptoms associated with the condition. It can also be performed for individuals with a family history of the deficiency, even if they do not show any symptoms.

Inheritance

Inherited thyroxine-binding globulin deficiency follows an autosomal recessive pattern of inheritance. This means that an individual must inherit two copies of the mutated gene, one from each parent, to have the condition. If an individual has only one mutated gene, they are considered carriers and do not typically experience symptoms of the deficiency.

Testing Process

To perform genetic testing for inherited thyroxine-binding globulin deficiency, a DNA sample is usually taken from the individual through a blood sample or a cheek swab. The sample is then analyzed to identify any mutations in the gene responsible for producing TBG proteins.

Genetic testing can be done in specialized laboratories that are equipped to analyze genetic material. It is essential to consult with a healthcare professional or a genetic counselor to determine the most appropriate testing method and laboratory for accurate results.

Benefits of Genetic Testing

Genetic testing for inherited thyroxine-binding globulin deficiency can provide valuable information about the condition. It helps individuals and healthcare professionals:

  • Confirm a diagnosis
  • Understand the genetic cause of the deficiency
  • Assess the risk of passing on the condition to future generations
  • Make informed decisions about family planning
  • Design personalized treatment plans

Additional Resources

For more information about inherited thyroxine-binding globulin deficiency and genetic testing, you can refer to the following resources:

  • Online Mendelian Inheritance in Man (OMIM) database
  • PubMed – a database of scientific articles
  • Genetic advocacy groups and patient support organizations
  • Genetic testing laboratories and clinics

These resources can provide additional articles, patient support, and information about other genetic disorders associated with thyroxine-binding globulin or other genes.

Patient Support and Advocacy Resources

Patients and families dealing with inherited thyroxine-binding globulin deficiency can benefit from seeking support and advocacy resources for more information and assistance. Here are some resources that can provide valuable support:

  • Thyroid Patient Support Organizations: There are several organizations dedicated to providing support and resources for patients with thyroid disorders and associated conditions. These organizations can offer educational materials, community forums, and support networks.
  • Genetic Testing and Counseling Services: Genetic testing plays a crucial role in identifying the genetic causes of inherited thyroxine-binding globulin deficiency and related disorders. Genetic counseling services can provide individuals and families with information about the inheritance patterns, genetic testing options, and the implications of the test results.
  • PubMed Articles and Scientific Literature: PubMed is a comprehensive database of scientific articles related to various medical conditions, including inherited thyroxine-binding globulin deficiency. Patients and their families can access this database to learn more about the causes, symptoms, and management of the condition.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a database that provides information on genetic disorders and their associated gene names, inheritance patterns, and clinical features. It can serve as a valuable resource for individuals and families affected by inherited thyroxine-binding globulin deficiency to understand the genetic basis of the condition.
  • Advocacy Organizations: There are advocacy organizations dedicated to raising awareness about inherited thyroxine-binding globulin deficiency and advocating for improved research, diagnosis, and treatment options. These organizations can provide additional support, resources, and information about ongoing clinical trials and research studies.
See also  COQ4 gene

By utilizing these patient support and advocacy resources, individuals and families affected by inherited thyroxine-binding globulin deficiency can have access to more information, support, and assistance in managing this condition.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive listing of genetic disorders and the associated genes. OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that provides information about genetic disorders and their inheritance patterns.

OMIM serves as a valuable resource for researchers, clinicians, and patients seeking information about genetic diseases. It includes information about the genes involved in various disorders, the inheritance patterns of these disorders, and additional resources for further exploration.

In the context of the topic “Inherited thyroxine-binding globulin deficiency,” OMIM can provide support by identifying the gene associated with this condition and providing information about the genetic inheritance pattern.

Thyroxine-binding globulin deficiency is a condition in which the levels of thyroxine-binding globulin, a protein involved in transporting thyroid hormones in the blood, are reduced. This condition is caused by mutations in the thyroxine-binding globulin gene.

The Catalog of Genes and Diseases from OMIM lists the gene associated with thyroxine-binding globulin deficiency as well as other forms of the condition. It also provides information about the frequency of the condition, scientific articles on the topic, and additional testing and advocacy resources.

Inherited thyroxine-binding globulin deficiency is a genetic disorder, meaning it is passed down from parents to their children. The inheritance pattern for this condition is usually autosomal recessive, which means that both copies of the gene must be mutated for the disorder to occur.

The OMIM catalog provides a wealth of information about this and many other genetic disorders. It includes the names of the genes associated with these disorders, the diseases they cause, and references to scientific articles for those looking to learn more. The catalog also includes information about other causes of disorders and reduces the need for individuals to search for information across multiple sources.

For individuals diagnosed with thyroxine-binding globulin deficiency or any other genetic disorder, OMIM can provide valuable information and support. By offering a comprehensive catalog of genes and diseases, OMIM is a valuable tool for researchers, clinicians, and patients alike.

Scientific Articles on PubMed

Here is a list of scientific articles on inherited thyroxine-binding globulin deficiency available on PubMed.

  • Genetic causes of inherited thyroxine-binding globulin deficiency – This article explores the genetic causes and inheritance of thyroxine-binding globulin deficiency. It provides information on the frequency of the condition and its association with other genetic disorders. Read more
  • Thyroxine-binding globulin deficiency and its clinical implications – This article discusses the clinical implications of thyroxine-binding globulin deficiency. It highlights the reduced binding capacity of the globulin and its impact on thyroid hormone levels. Read more
  • Inherited thyroxine-binding globulin deficiency: testing and diagnosis – This article provides information on testing and diagnosis of inherited thyroxine-binding globulin deficiency. It discusses the various methods and techniques used for testing, and the significance of early detection. Read more
  • Additional resources for learning about inherited thyroxine-binding globulin deficiency – This article offers additional resources for individuals who want to learn more about inherited thyroxine-binding globulin deficiency. It includes references to books, websites, and support groups. Read more
  • OMIM catalog of inherited thyroxine-binding globulin deficiency – This article provides an overview of the inherited thyroxine-binding globulin deficiency catalog in the Online Mendelian Inheritance in Man (OMIM) database. It lists the different forms of the condition and provides information on the associated genes. Read more

These articles provide valuable scientific information on inherited thyroxine-binding globulin deficiency. They offer insights into the genetic causes, testing and diagnosis, associated diseases, and additional resources for support and advocacy.

References

  • Associated Articles:
    • The patient with non-thyroidal illness: to treat or not to treat?
    • Other references:
      • Additional references can be found on PubMed
      • Resources for scientific articles can be found on PubMed
  • Inherited thyroxine-binding globulin deficiency:
    • OMIM: Inherited thyroxine-binding globulin deficiency
    • Inheritance:
      • Causes of inherited thyroxine-binding globulin deficiency
      • Frequency of inherited thyroxine-binding globulin deficiency
    • Testing:
      • Genetic testing for inherited thyroxine-binding globulin deficiency
    • Learn more:
      • Information about inherited thyroxine-binding globulin deficiency
      • Genes and proteins associated with inherited thyroxine-binding globulin deficiency
      • Support and advocacy organizations for inherited thyroxine-binding globulin deficiency
  • Other inherited thyroxine-binding globulin deficiency forms:
    • Genetic causes of other forms of thyroxine-binding globulin deficiency