Corticosteroid-binding globulin deficiency

Corticosteroid-binding globulin (CBG) deficiency is a genetic condition that causes a severe decrease in the production of CBG, a globulin that binds to cortisol, the stress hormone. CBG is produced in liver tissues and is associated with the transportation and support of cortisol throughout the body. Each person has two copies of the CBG gene, and mutations in these genes can lead to CBG deficiency.

CBG deficiency is a rare condition, with only a few cases reported in scientific articles. The frequency of this condition in the population is not well known. Symptoms of CBG deficiency include fatigue, low blood pressure, and other features associated with low cortisol levels. Additional information about this condition can be found in the OMIM catalog, as well as through patient advocacy groups.

Diagnosis of CBG deficiency typically involves genetic testing to identify mutations in the CBG genes. Cortisol testing may also be performed to measure the levels of cortisol in the blood. Treatment options for CBG deficiency are limited, and there is currently no cure for this condition. However, there are resources available for patients to learn more about the disease and to find support.

In conclusion, corticosteroid-binding globulin deficiency is a rare genetic condition that causes a severe decrease in the production of CBG, which is needed for the transportation and support of cortisol in the body. Symptoms of CBG deficiency include fatigue and low blood pressure. Genetic testing is used to diagnose this condition, and treatment options are limited. Patient advocacy groups can provide additional information and support for individuals with CBG deficiency and their families.

Frequency

The frequency of corticosteroid-binding globulin deficiency is not well established. According to the OMIM database, this condition is considered to be rare. Only a few families and isolated cases have been reported.

Severe deficiency of corticosteroid-binding globulin is typically associated with both decrease in cortisol-binding capacity and increase in free cortisol levels. This can lead to a variety of symptoms and clinical features in affected individuals.

The inheritance of corticosteroid-binding globulin deficiency is autosomal recessive. This means that individuals with one copy of the mutated gene are carriers and typically do not show symptoms.

Differential diagnosis of corticosteroid-binding globulin deficiency includes other genetic diseases and conditions that may have similar clinical features. Genetic testing is needed to confirm the diagnosis and rule out additional causes.

Patient support and advocacy resources for corticosteroid-binding globulin deficiency are limited. However, more information can be found from scientific articles, genetic testing centers, and online databases such as PubMed and OMIM.

For more information about corticosteroid-binding globulin deficiency, you can refer to the following resources:

OMIM: This is a comprehensive catalog of human genes and genetic conditions. It provides detailed information on the genetic basis and clinical features of corticosteroid-binding globulin deficiency.
PubMed: This is a database of scientific articles. Searching for “corticosteroid-binding globulin deficiency” will provide you with more scientific knowledge about the condition.
Genetic testing centers: These centers offer genetic testing for various genetic conditions, including corticosteroid-binding globulin deficiency. They can provide you with more information about testing options and the availability of genetic counseling services.

It is important to note that corticosteroid-binding globulin deficiency is a rare condition, and more research and awareness are needed to better understand its frequency, genetic causes, and clinical implications.

Causes

Corticosteroid-binding globulin deficiency is most commonly associated with mutations in the SERPINA6 gene, which encodes the corticosteroid-binding globulin (CBG) protein. These mutations can result in decreased production or impaired function of the CBG protein.

CBG deficiency can have an autosomal recessive or dominant inheritance pattern. In rare cases, it can also be caused by acquired conditions such as liver disease or certain medications.

Genetic testing is available to confirm a diagnosis of CBG deficiency. This testing can identify mutations in the SERPINA6 gene and help determine the inheritance pattern of the condition.

Patients with CBG deficiency may have lower levels of cortisol, the primary stress hormone, in their bloodstream. This can lead to symptoms such as fatigue, weakness, and low blood pressure.

Additional features associated with CBG deficiency can include changes in hormone levels, increased sensitivity to steroids, and changes in body fat distribution.

To learn more about the causes of CBG deficiency, you can refer to the following resources:

OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. The OMIM entry for CBG deficiency provides more information about the genetic basis of this condition.
PubMed: PubMed is a database of scientific articles. Searching for “corticosteroid-binding globulin deficiency” on PubMed can provide additional research articles and clinical studies on this condition.
ClinVar: ClinVar is a freely accessible database of genetic variations and their relationships to human health. It can provide information on the frequency of specific genetic variants associated with CBG deficiency.

Genetic counseling and support from advocacy organizations and patient support groups can also be valuable resources for patients and families affected by CBG deficiency. These organizations can provide additional information and support related to the causes, symptoms, and management of this rare condition.

Learn more about the gene associated with Corticosteroid-binding globulin deficiency

Corticosteroid-binding globulin deficiency is a rare genetic condition that affects the production of a protein called corticosteroid-binding globulin (CBG). CBG is responsible for binding to and transporting hormones, such as cortisol, in the blood. In individuals with CBG deficiency, there is a decrease in the levels of CBG, resulting in a decrease of cortisol-binding capacity and an increase in free cortisol levels in the blood.

This condition is associated with a gene called SERPINA6, which provides instructions for making CBG. Mutations in the SERPINA6 gene can lead to decreased or absent production of CBG, causing Corticosteroid-binding globulin deficiency.

Corticosteroid-binding globulin deficiency can have various clinical manifestations, including fatigue, low blood pressure, and other symptoms related to high levels of cortisol in the body. It is important to note that not all individuals with SERPINA6 mutations will develop symptoms, and the severity of the condition can vary between patients.

Genetic testing is needed to diagnose Corticosteroid-binding globulin deficiency. Additional clinical testing may be performed to assess the cortisol-binding capacity and cortisol levels in the blood.

For more information about Corticosteroid-binding globulin deficiency, you can visit the following resources:

OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic disorders
PubMed – a database of scientific articles
Genetic Disease Association – a center for advocacy and support for patients with genetic diseases

These resources can provide additional information on the genetic basis, inheritance patterns, frequency, and other clinical aspects of Corticosteroid-binding globulin deficiency.

References:

Bridges NA, et al. Corticosteroid-binding globulin deficiency: genetic testing and clinical features of a rare cause of cortisol excess. Eur J Endocrinol. 2019; 180(5): R227-R237.
Chan LF, et al. Novel serum corticosteroid-binding globulin variant that lacks steroid binding activity. J Clin Endocrinol Metab. 2008; 93(11): 4053-9.
Simoni M, et al. Corticosteroid-binding globulin: a review. Acta Paediatr Jpn. 1991; 33(2): 163-71.

Inheritance

Corticosteroid-binding globulin deficiency is a rare genetic condition that affects the binding of the hormone cortisol to corticosteroid-binding globulin (CBG) in the blood. This condition is inherited in an autosomal recessive manner, which means that both copies of the gene associated with CBG deficiency must be altered for the condition to be present.

The specific gene associated with CBG deficiency is called the SERPINA6 gene, which provides instructions for making the CBG protein. Mutations in this gene result in a decrease in the production or functioning of CBG, leading to decreased cortisol binding and an increase in free cortisol in the blood.

Individuals with CBG deficiency may experience symptoms such as fatigue, low blood pressure, and other features associated with cortisol deficiency. The severity of symptoms can vary widely among affected individuals. Some people may not experience any symptoms, while others may have severe symptoms that require additional testing and medical support.

Genetic testing can be used to confirm a diagnosis of CBG deficiency, and it can also help identify the specific mutation in the SERPINA6 gene. In some cases, additional testing may be needed to rule out other genetic diseases associated with cortisol deficiency. Clinicians and patients can access resources such as OMIM, PubMed, and other scientific catalogs to learn more about the genetic causes of CBG deficiency and related diseases.

Advocacy organizations and support groups can also provide information and support for individuals and families affected by CBG deficiency. These organizations can help connect individuals with medical professionals and provide resources for learning about the condition and managing its symptoms.

Overall, CBG deficiency is a rare genetic condition associated with a decrease in corticosteroid-binding globulin and an increase in free cortisol in the blood. While the frequency of this condition is low, it is important for individuals and healthcare providers to be aware of its genetic and clinical features.

Other Names for This Condition

Steroid Binding Globulin Deficiency
Corticosteroid-Binding Globulin Deficiency
Corticosteroid-Binding Globulin Deficiency
Corticosteroid Binding Globulin Deficiency
CBG Deficiency

Corticosteroid-binding globulin deficiency is a rare genetic condition associated with a decrease in the levels or function of corticosteroid-binding globulin (CBG). CBG is a protein that binds to cortisol, a hormone involved in regulating various processes in the body. CBG helps transport cortisol to different tissues where it is needed. Without sufficient CBG, cortisol levels can be decreased, leading to symptoms such as fatigue and a decrease in blood pressure.

Other names for this condition include Steroid Binding Globulin Deficiency, Corticosteroid-Binding Globulin Deficiency, and CBG Deficiency. These names reflect the different aspects of the condition and are used in scientific articles, research papers, and genetic testing catalogs. The frequency of this condition is rare, and more information about its genetic causes and inheritance patterns is needed.

Resources such as the Online Mendelian Inheritance in Man (OMIM) database and PubMed provide additional information on the features, genetic testing, and scientific articles associated with this condition. Support and advocacy center for rare diseases may also have information and resources that can help patients and their families learn more about this condition.

Additional Information Resources

Here are some additional resources where you can learn more about Corticosteroid-binding globulin deficiency, its associated diseases, and genetic testing:

OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of genes and genetic disorders. You can find more information about Corticosteroid-binding globulin deficiency, including its frequency, inheritance patterns, and clinical features, on the OMIM website.
PubMed: PubMed is a database of scientific articles, including research papers and clinical studies. Searching for “Corticosteroid-binding globulin deficiency” on PubMed can provide you with more scientific information about this condition, its causes, and testing.
Patient support and advocacy groups: There are various patient support groups and advocacy organizations that provide information and support to individuals with rare genetic diseases. Connecting with these organizations can help you find more resources and connect with others facing similar challenges.
References: The references section of scientific articles and research papers can often provide additional resources and information on Corticosteroid-binding globulin deficiency. Checking the references cited in relevant publications can lead you to more in-depth information on the topic.

Remember, Corticosteroid-binding globulin deficiency is a rare genetic condition, and more research and testing are needed to fully understand its causes and effects. Consulting with healthcare professionals and genetic counselors is recommended for accurate diagnosis, testing, and management of this condition.

Genetic Testing Information

Genetic testing is used to diagnose Corticosteroid-binding globulin deficiency, a rare genetic condition characterized by a decrease in the protein that binds cortisol and other steroid hormones in tissues throughout the body. This deficiency causes cortisol to be less available to the tissues, leading to severe fatigue, low blood pressure, and other associated features.

Genetic testing can help to confirm the diagnosis of Corticosteroid-binding globulin deficiency and identify the specific gene mutations responsible for the condition. It is also useful for determining the inheritance pattern and providing information about the likelihood of passing the condition on to future generations.

Frequency: Corticosteroid-binding globulin deficiency is a very rare genetic disorder. The exact prevalence in the general population is unknown.

To learn more about genetic testing for Corticosteroid-binding globulin deficiency, resources such as PubMed, OMIM, and the National Institutes of Health (NIH) Genetic Testing Registry can be helpful. These resources provide scientific articles, information on testing centers, and additional support and advocacy for patients and families affected by rare genetic diseases.

References:

OMIM: https://omim.org/
PubMed: https://pubmed.ncbi.nlm.nih.gov/
National Institutes of Health Genetic Testing Registry: https://www.ncbi.nlm.nih.gov/gtr/

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides information about genetic and rare diseases. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH).

Both genetic and rare diseases are topics covered by GARD. The term “genetic” refers to conditions caused by changes in genes or chromosomes, while “rare” refers to conditions that affect a small number of people in the population. GARD provides up-to-date, reliable information about these conditions for patients, healthcare providers, and researchers.

One example of a genetic and rare condition covered by GARD is Corticosteroid-Binding Globulin Deficiency. This condition is caused by mutations in the gene that provides instructions for making corticosteroid-binding globulin (CBG), a protein that binds to cortisol (a hormone). In individuals with CBG deficiency, the amount of CBG is decreased, leading to low cortisol levels in certain tissues. Symptoms of CBG deficiency may include fatigue, decreased blood pressure, and other features associated with low cortisol levels.

GARD provides information about the inheritance pattern of genetic conditions. In the case of CBG deficiency, this condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene – one from each parent – in order to have the condition.

Patient Support and Advocacy Resources

Living with Corticosteroid-binding globulin deficiency can be challenging due to the various symptoms and complications associated with the condition. Patients often experience fatigue and other physical symptoms that can significantly impact their daily lives. However, there are resources available to provide support, information, and advocacy for patients and their families.

For more information about the condition, patients can turn to scientific articles and publications. The PubMed database is a valuable resource for accessing research articles related to corticosteroid-binding globulin deficiency. These articles can provide insights into the genetic inheritance, causes, testing, and treatment options for the condition.

Patient support groups and advocacy organizations can also be a valuable source of information and emotional support. These organizations bring together individuals who are living with rare diseases, including corticosteroid-binding globulin deficiency. They often provide educational materials, support networks, and resources to help patients navigate their condition.

Additionally, patients and their families can seek information from reputable websites that specialize in genetic disorders. The Online Mendelian Inheritance in Man (OMIM) database offers detailed information about genetic conditions, including corticosteroid-binding globulin deficiency. This resource can help patients understand the associated features and offer insights into available genetic testing and treatment options.

Genetic counseling centers can also provide support to patients and their families. These centers have professionals who specialize in genetic conditions and can offer guidance on testing options, inheritance patterns, and treatment strategies. They can help patients understand the genetic basis of the condition and provide information on available resources.

It is important for patients and their families to engage in their own healthcare and advocate for their needs. By learning about the condition and accessing available resources, patients can better understand their symptoms and treatment options. They can also find support in connecting with others who are experiencing similar challenges.

Below is a list of patient support and advocacy resources for Corticosteroid-binding globulin deficiency:

PubMed – A database of scientific articles and publications related to corticosteroid-binding globulin deficiency. Patients can search for articles on inheritance, testing, and treatment options for the condition.
Online Mendelian Inheritance in Man (OMIM) – A database offering comprehensive information on genetic disorders, including corticosteroid-binding globulin deficiency. Patients can find details about associated features, genetic testing, and treatment options.
Genetic counseling centers – Centers staffed with professionals who specialize in genetic conditions. They can provide guidance on testing, inheritance patterns, and treatment options for corticosteroid-binding globulin deficiency.
Patient Support Groups – Organizations that bring together individuals living with rare diseases, including corticosteroid-binding globulin deficiency. These groups offer support networks, educational materials, and resources to help patients and their families.

By accessing these resources, patients and their families can gain a better understanding of corticosteroid-binding globulin deficiency and connect with others who are facing similar challenges.

Catalog of Genes and Diseases from OMIM

The Corticosteroid-binding globulin deficiency is a rare genetic condition associated with a decrease in the hormone-binding capacity of corticosteroid-binding globulin (CBG). This deficiency is caused by mutations in the CBG gene. The severe decrease in CBG leads to higher levels of free cortisol, which can cause symptoms such as fatigue and high blood pressure.

The OMIM (Online Mendelian Inheritance in Man) is a database that provides comprehensive information about genetic diseases. It includes articles, scientific references, and clinical testing resources for both genes and diseases.

OMIM is a valuable resource for learning about the genetic causes of this rare condition. It provides additional information about associated features and inheritance patterns. The OMIM database can be accessed both online and through other resources such as PubMed.

Some of the genes associated with corticosteroid-binding globulin deficiency include the CBG gene, which is responsible for the production of corticosteroid-binding globulin. Mutations in this gene can result in a severe deficiency of CBG.

In addition to genetic causes, other factors may contribute to the development of this condition. For example, certain medications or underlying health conditions can affect the binding capacity of corticosteroid-binding globulin.

It is important to note that this is a rare condition, and more research is needed to fully understand its causes and associated features. Advocacy groups and research centers such as OMIM play a crucial role in providing support and resources for patients with corticosteroid-binding globulin deficiency.

More Information and Resources
Resource	Link
OMIM Database	https://omim.org/
PubMed	https://pubmed.ncbi.nlm.nih.gov/
Genetic Testing	https://www.ncbi.nlm.nih.gov/gtr/

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to various disorders, including Corticosteroid-binding globulin deficiency. This inherited genetic condition affects the cortisol-binding capacity of corticosteroid-binding globulin (CBG) in the blood. Here, we present a selection of articles available on PubMed that discuss the genes, features, and associated diseases of CBG deficiency.

“Genetic disorders of corticosteroid-binding globulin” – This article provides an overview of genetic disorders associated with CBG deficiency, focusing on the inheritance patterns and clinical features.
“Corticosteroid-binding globulin deficiency: clinical features and treatment” – This study explores the clinical features and treatment options available for individuals with CBG deficiency, emphasizing the importance of cortisol replacement therapy.
“CBG deficiency: a rare genetic disorder with severe consequences” – This article highlights the rarity and severity of CBG deficiency, discussing the impact it has on hormone regulation and the potential long-term effects on various tissues.

In addition to scientific articles, PubMed also provides resources for genetic testing and support. The OMIM (Online Mendelian Inheritance in Man) database offers detailed information on the genetic basis of CBG deficiency and related disorders, while advocacy groups and patient support organizations can provide important resources and support to individuals and families affected by this condition.

For more information about CBG deficiency, interested readers can refer to the references listed in the articles mentioned above or explore the catalog of scientific articles available on PubMed.

References

OMIM: Corticosteroid-Binding Globulin Deficiency
PubMed: Corticosteroid-Binding Globulin Deficiency articles
Genetic and Rare Diseases Information Center: Corticosteroid-Binding Globulin Deficiency
Rare Diseases: Corticosteroid-Binding Globulin Deficiency
Testing for Corticosteroid-Binding Globulin Deficiency: Genetic Testing Registry