Congenital bile acid synthesis defect type 1, also known as CBAS1, is a rare, genetic condition that affects the production of bile acids in the liver. Bile acids play a crucial role in the digestion and absorption of fats and fat-soluble vitamins in the intestines. In CBAS1, there is a deficiency in the enzymes needed for the synthesis of bile acids, leading to a buildup of toxic substances and a deficiency of essential bile acids in the body.

This condition is estimated to occur in approximately 1 in every 100,000 to 150,000 live births worldwide. It is inherited in an autosomal recessive manner, which means that both copies of the affected gene must be mutated for an individual to develop the condition. The gene responsible for CBAS1 is called HSD3B7, which provides instructions for making an enzyme called 3beta-hydroxy-delta-5-C27-steroid oxidoreductase (also known as 3beta-HSD).

Congenital bile acid synthesis defect type 1 is associated with a range of symptoms and complications, including liver failure, failure to thrive, vitamin deficiency, and metabolic acidosis. The severity and age of onset can vary greatly among affected individuals. In some cases, the condition may be diagnosed prenatally through genetic testing, while in others, it may not be identified until later in life.

Genetic testing, along with additional laboratory and imaging studies, can be used to confirm a diagnosis of CBAS1. Treatment options for this condition are limited, but may include dietary changes, supplementation with essential bile acids and fat-soluble vitamins, and liver transplantation in severe cases. It is important for individuals with CBAS1 and their families to have access to genetic counseling, support groups, and resources from advocacy organizations to learn more about this rare condition and available management options.

For more information on congenital bile acid synthesis defects and other genetic diseases, visit the Online Mendelian Inheritance in Man (OMIM) catalog and PubMed for scientific articles and references. These resources can provide valuable information on the causes, inheritance patterns, and management strategies for this rare and complex condition.

Frequency

Congenital bile acid synthesis defect type 1 is a rare genetic condition that results from a defect in the synthesis of bile acids. It is also known as 3-beta-hydroxy-delta-5-C27-steroid oxido-reductase deficiency.

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This defect is inherited in an autosomal recessive manner, meaning that both copies of the gene must have the defect for an individual to be affected. The condition is very rare, with only a few reported cases in the scientific literature.

The frequency of congenital bile acid synthesis defect type 1 in the general population is currently unknown. However, it is estimated to be very rare, with only a small number of cases reported worldwide.

Due to its rarity, it is important for healthcare professionals to be aware of this condition and consider it in the differential diagnosis of patients with unexplained liver disease or failure. Genetic testing is necessary for a definitive diagnosis.

Patient support and advocacy resources, such as the Genetic and Rare Diseases Information Center (GARD) and the Online Mendelian Inheritance in Man (OMIM) catalog, provide additional information about congenital bile acid synthesis defect type 1, including resources for genetic testing and references to scientific articles about the condition.

Further research is needed to better understand the genetic causes and frequency of this rare condition, as well as to develop more effective treatments and support for affected individuals and their families.

Causes

Congenital bile acid synthesis defect type 1 (also called 3-BHSD or 3-BETA-HYDROXY-DELTA-5-C27-STEROID DEHYDROGENASE DEFICIENCY) is a rare genetic condition that affects the synthesis of bile acids. Bile acids are important for the digestion and absorption of dietary fats. In this condition, the body is unable to produce sufficient amounts of a specific enzyme called 3-beta-hydroxysteroid dehydrogenase, which is needed for the synthesis of bile acids.

The deficiency of this enzyme is caused by mutations in the HSD3B7 gene. This gene provides instructions for making an enzyme that is involved in a series of chemical reactions to convert cholesterol into bile acids. Mutations in the HSD3B7 gene disrupt this process, leading to a deficiency of bile acids.

This genetic condition is inherited in an autosomal recessive pattern, which means that both parents must be carriers of the mutated gene for their child to be affected. Carriers of a single mutation in the HSD3B7 gene do not typically have any symptoms of the condition, as they are able to produce sufficient bile acids.

Genetic testing is available to confirm a diagnosis of congenital bile acid synthesis defect type 1. This testing can identify mutations in the HSD3B7 gene and can help to determine the specific genetic cause of the condition. Additionally, research studies have identified other genes that may be associated with the condition, but their role is still being investigated.

Patients with congenital bile acid synthesis defect type 1 may have a deficiency of bile acids, which can lead to various symptoms and health problems. In addition to abnormal liver function and failure to thrive, patients may experience fat malabsorption, vitamin deficiencies, and developmental delays.

There are several resources available for patients and families affected by congenital bile acid synthesis defect type 1. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about this condition, including the associated genetic changes and inheritance pattern. PubMed, a scientific database, contains articles and research papers about this condition and related topics. Genetic advocacy organizations and patient support groups can also provide additional information and support for individuals and families affected by this condition.

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In summary, congenital bile acid synthesis defect type 1 is a rare genetic condition caused by mutations in the HSD3B7 gene. Patients with this condition have a deficiency of bile acids, which can lead to a range of symptoms and health problems. Genetic testing can confirm the diagnosis, and there are various resources available to support individuals and families affected by this condition.

Learn more about the gene associated with Congenital bile acid synthesis defect type 1

Congenital bile acid synthesis defect type 1 is a rare genetic condition that causes a deficiency in the synthesis of bile acids. Bile acids are vital for the digestion and absorption of dietary fats and fat-soluble vitamins. The defect in this gene, called bile acid CoA:amino acid N-acyltransferase (BAAT) deficiency, leads to impaired bile acid production, resulting in the accumulation of toxic intermediates.

Patients with Congenital bile acid synthesis defect type 1 often present with liver failure and other metabolic diseases. The condition is inherited in an autosomal recessive manner, meaning that both copies of the BAAT gene must be defective for the condition to manifest. The disease frequency is extremely low, making it a very rare genetic defect.

If you are interested in learning more about Congenital bile acid synthesis defect type 1, there are various resources available. The OMIM (Online Mendelian Inheritance in Man) database provides detailed information about the genetic basis of the condition, including the BAAT gene and its associated mutations. Additionally, scientific articles and references can be found on PubMed, which offer more in-depth information on the topic.

Support and advocacy organizations, such as the Genetic and Rare Diseases Information Center (GARD), can also provide valuable information and resources for patients and their families. These organizations often have catalogs of articles and references, as well as support networks for individuals living with rare genetic diseases.

In conclusion, Congenital bile acid synthesis defect type 1 is a rare genetic condition caused by a defect in the BAAT gene. This deficiency leads to impaired bile acid synthesis, resulting in a range of metabolic and liver-related problems. It is important to learn more about this genetic defect to understand its causes, inheritance patterns, and available testing options.

Inheritance

Congenital bile acid synthesis defect type 1 (CBAS1) is a rare genetic condition that affects the synthesis of bile acids. It is inherited in an autosomal recessive manner, which means that both copies of the responsible gene in each cell must have mutations for the condition to be present.

When both parents are carriers of a CBAS1 gene mutation, each of their children has a 25% chance of inheriting the condition.

CBAS1 is caused by mutations in the HSD3B7 gene. This gene provides instructions for making an enzyme called 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase, which is involved in bile acid synthesis. Mutations in this gene result in a deficiency of this enzyme, leading to the impaired synthesis of bile acids.

Bile acids are important for the digestion and absorption of dietary fats, cholesterol, and fat-soluble vitamins. In CBAS1, the failure to produce bile acids properly can lead to a buildup of toxic substances and a deficiency of bile acids. This can result in liver and gastrointestinal problems.

CBAS1 is one of several congenital bile acid synthesis defects. These diseases are very rare, and the exact frequency is unknown.

For more information about genetic inheritance, you can refer to the following resources:

These resources provide scientific articles, support groups, advocacy organizations, and additional information to learn more about the condition, its inheritance, and testing for this genetic defect.

Other Names for This Condition

Congenital bile acid synthesis defect type 1 has also been called the following:

  • CBS deficiency
  • CBAS1
  • Dehydroxybile acid synthesis defect
  • 3-beta-hydroxy-Delta(5)-C(27)-steroid oxidoreductase deficiency
  • Bile acid synthesis defect, congenital, 1
  • Cholestasis, progressive familial intrahepatic, 3
  • Cerebrotendinous xanthomatosis

This condition is one of a group of rare genetic diseases characterized by a deficiency in the synthesis of bile acids. Bile acids are important for the absorption of dietary fats and fat-soluble vitamins.

To learn more about the frequency, inheritance, and symptoms of congenital bile acid synthesis defect type 1, you can visit the following resources:

  • Clinical Genetics Department at the Royal Children’s Hospital in Melbourne, Australia. They have a catalog of genetic testing and patient information about this condition.
  • The Genetic and Rare Diseases Information Center (GARD), which provides information about the genetics of congenital bile acid synthesis defects and other related diseases.
  • The Online Mendelian Inheritance in Man (OMIM) database, which provides scientific information about the genes associated with this condition.
  • The PubMed database, which has articles and scientific research related to congenital bile acid synthesis defects and other associated conditions.
  • The Bile Acid Synthesis Defects Foundation, which provides advocacy and support for patients and families affected by this condition.

Additional information about congenital bile acid synthesis defect type 1 and other related conditions can be found on various online scientific resources and patient support websites.

Additional Information Resources

Here are some additional resources where you can learn more about Congenital bile acid synthesis defect type 1:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the genetic causes and inheritance patterns of rare diseases and conditions. You can find more information about Congenital bile acid synthesis defect type 1 on OMIM.
  • Genetic Testing: If you suspect that you or someone you know may have Congenital bile acid synthesis defect type 1, genetic testing can provide confirmation. Talk to your healthcare provider about genetic testing options and laboratories that offer testing for this condition.
  • Scientific Articles: Scientific articles published in peer-reviewed journals can provide in-depth information about the genetic and biochemical aspects of Congenital bile acid synthesis defect type 1. You can search for relevant articles on PubMed, a database of scientific literature.
  • Patient Support and Advocacy: There are patient support groups and advocacy organizations that provide information, resources, and support for individuals and families affected by Congenital bile acid synthesis defect type 1. These organizations can offer guidance, connect you with other individuals with similar conditions, and provide assistance in navigating the medical system.
  • Referral Centers: Some medical centers and hospitals have specialized clinics or departments that focus on diagnosing and treating rare genetic conditions like Congenital bile acid synthesis defect type 1. These referral centers have expertise in managing these conditions and can provide comprehensive care.
  • Vitamins and Other Metabolic Support: Individuals with Congenital bile acid synthesis defect type 1 may require supplementation with specific vitamins or metabolic support to manage the condition. Talk to a healthcare professional with expertise in metabolic diseases to determine the appropriate supplementation for your specific situation.
  • Catalog of Genetic Disorders: There are online catalogs and databases that provide comprehensive information about genetic disorders. These resources can help you learn more about Congenital bile acid synthesis defect type 1 and other related conditions.
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Genetic Testing Information

Congenital bile acid synthesis defect type 1 is a rare genetic condition associated with the deficiency in bile acid synthesis. It is caused by mutations in the genes encoding the enzyme called sterol 27-hydroxylase (CYP27A1) and 3β-hydroxy-Δ^5-C27-steroid oxidoreductase (HSD3B7).

Genetic testing is available to diagnose this condition. The testing involves analyzing the patient’s DNA for mutations in the CYP27A1 and HSD3B7 genes. This can be done through targeted gene sequencing or through whole exome sequencing.

Genetic testing can provide important information about the specific genetic mutation causing the defect and can help determine the mode of inheritance. It can also provide information about other associated genetic conditions and the frequency of the defect in the population.

Additional testing, such as biochemical testing and liver function tests, may be necessary to confirm the diagnosis and assess the severity of the condition. This may include measuring bile acid levels in the blood and urine, as well as liver enzyme levels.

Genetic testing can be beneficial for patients and their families. It can help in understanding the underlying cause of the condition and provide important information for medical management and treatment planning.

Genetic testing resources and support can be found through various organizations and advocacy groups, such as the Genetic Testing Registry (GTR) and the National Organization for Rare Disorders (NORD).

For more scientific information about congenital bile acid synthesis defect type 1, including genetic testing and associated genes, visit the OMIM (Online Mendelian Inheritance in Man) catalog. PubMed and other scientific articles can also provide more information on this rare condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a catalog of genetic diseases and rare conditions. It provides information on various genetic conditions, including Congenital Bile Acid Synthesis Defect Type 1. This center is a reliable source for learning about genetic disorders and the associated genes.

Congenital Bile Acid Synthesis Defect Type 1 is a rare genetic condition caused by a deficiency in the gene that codes for the enzyme 3β-hydroxy-Δ5-C27-steroid dehydrogenase. This defect leads to a failure in bile acid synthesis, resulting in a build-up of bile acids in the liver.

The Genetic and Rare Diseases Information Center provides additional information on the frequency of this condition, the symptoms, and the inheritance pattern. It also offers resources for genetic testing and support for patients and their families.

Further scientific articles and references about Congenital Bile Acid Synthesis Defect Type 1 can be found on PubMed. These articles provide more in-depth information on the causes, symptoms, and treatment options for this rare genetic condition.

This center serves as a valuable resource for those seeking information and support about rare genetic diseases. It provides a comprehensive database of genetic conditions, along with resources for testing, advocacy, and support.

Genetic and Rare Diseases Information Center
Catalog of genetic diseases and rare conditions
Reliable source for learning about genetic disorders and associated genes
Provides information on Congenital Bile Acid Synthesis Defect Type 1
Offers resources for genetic testing and support
Scientific articles and references available on PubMed
Comprehensive database of genetic conditions

Patient Support and Advocacy Resources

Patients and families affected by Congenital Bile Acid Synthesis Defect Type 1 can benefit from various resources and support networks available online. These resources provide valuable information, guidance, and community for individuals living with this rare condition.

1. The OMIM database: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and genetic conditions. It provides detailed information about the Congenital Bile Acid Synthesis Defect Type 1, also called 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency.

2. Genetic Testing: Genetic testing can help diagnose this rare genetic defect. Patients can learn more about genetic testing options and laboratories specializing in this type of testing to confirm the deficiency of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase.

3. Scientific Articles and Publications: PubMed is a scientific database that offers a wealth of articles on research and clinical studies related to bile acid metabolism and genetic diseases. Patients can find up-to-date information on Congenital Bile Acid Synthesis Defect Type 1 and its associated genetic causes.

4. Patient Support Organizations: There are several organizations dedicated to supporting patients and families affected by Congenital Bile Acid Synthesis Defect Type 1. These organizations provide support, resources, and advocacy for patients and their loved ones.

5. Vitamin and Acid Supplements: Patients may require specialized diets or vitamin and acid supplements to help manage their condition. Resources can provide guidance on the appropriate diet and supplements to ensure optimal health.

6. Additional Resources: Patients can find additional resources, including online communities and forums, where they can connect with others going through similar experiences and share insights and support.

Overall, these patient support and advocacy resources offer a valuable lifeline for individuals with Congenital Bile Acid Synthesis Defect Type 1 and their families. They provide access to information, support networks, and the latest research findings, helping patients navigate their journey and improve their quality of life.

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Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a catalog of genes and diseases that provides comprehensive information about various genetic conditions. This catalog is a valuable resource for scientists, researchers, healthcare professionals, and patients seeking to learn more about rare genetic diseases, such as congenital bile acid synthesis defect type 1.

Genetic testing is often used to diagnose congenital bile acid synthesis defect type 1, a rare metabolic condition that causes a failure in the synthesis of bile acids. This defect is caused by mutations in the HSD3B7 gene, which plays a crucial role in bile acid synthesis.

OMIM provides detailed information about the HSD3B7 gene, including its associated diseases, inheritance patterns, and additional names by which it may be referred to. It also offers references to scientific articles and other resources that support the understanding of this condition.

In addition to the HSD3B7 gene, other genes associated with the synthesis of bile acids are cataloged in OMIM, providing a comprehensive overview of the genetic factors involved in this process.

OMIM’s catalog also includes information about the frequency of congenital bile acid synthesis defect type 1 and its inheritance patterns. This can help patients and healthcare professionals better understand the condition and its likelihood of occurring in different populations.

OMIM is a valuable resource not only for genetic testing and scientific research but also for patient advocacy groups and healthcare providers who require up-to-date information about rare genetic diseases.

By utilizing OMIM’s catalog, individuals can access reliable information about congenital bile acid synthesis defect type 1 and other rare genetic diseases. This knowledge can support accurate diagnosis, appropriate treatment, and improved patient care.

For more information about congenital bile acid synthesis defect type 1 and genetic testing, OMIM provides links to related articles and resources, including PubMed and other scientific databases. These resources offer comprehensive information about the genetic causes, symptoms, and management of this condition.

Overall, OMIM’s catalog of genes and diseases is an invaluable tool for researchers, healthcare professionals, and patients seeking information about rare genetic conditions like congenital bile acid synthesis defect type 1.

Scientific Articles on PubMed

Advocacy for individuals with congenital bile acid synthesis defect type 1:

  • Scientific articles published on PubMed have provided valuable information about this rare genetic condition and have helped raise awareness and understanding of the disease.
  • These articles have also highlighted the importance of early diagnosis and appropriate management, as well as the need for support and resources for patients and their families.
  • Advocacy organizations, such as the Congenital Bile Acid Synthesis Defects Support and Advocacy Center, have been instrumental in providing support and resources for individuals affected by this condition.

Condition and Causes:

  • Congenital bile acid synthesis defect type 1 is a rare genetic condition that affects the production of bile acids in the liver.
  • It is caused by mutations in the HSD3B7 gene, which is responsible for the synthesis of bile acids.
  • These mutations result in a deficiency of the enzyme 3β-hydroxy-Δ-5-C27-steroid dehydrogenase, leading to a failure in bile acid synthesis.

Defect and Genetic Inheritance:

  • The defect in bile acid synthesis leads to a build-up of toxic bile acids in the body, which can cause liver damage and other associated symptoms.
  • Congenital bile acid synthesis defect type 1 follows an autosomal recessive inheritance pattern, meaning that an individual must inherit two mutated copies of the HSD3B7 gene, one from each parent, in order to develop the condition.
  • The frequency of this condition in the general population is unknown, as it is considered to be a rare disease.

Symptoms and Diagnosis:

  • Patients with congenital bile acid synthesis defect type 1 may present with various symptoms, including jaundice, failure to thrive, hepatomegaly, and vitamin deficiencies.
  • Diagnosis is typically made through biochemical testing, which can measure the levels of specific bile acids and their precursors in the blood and urine.
  • Additional genetic testing may be performed to confirm the diagnosis and identify the specific mutations in the HSD3B7 gene.

Treatment and Support:

  • Management of congenital bile acid synthesis defect type 1 typically involves the supplementation of specific vitamins, such as fat-soluble vitamins and bile acid precursors.
  • Patient support and advocacy organizations, such as the Congenital Bile Acid Synthesis Defects Support and Advocacy Center, provide resources and information for individuals with this condition and their families.
  • Scientific articles published on PubMed continue to contribute to our understanding of this rare disease and provide information about ongoing research and treatment options.

For more information:

  • OMIM: A comprehensive catalog of human genes and genetic disorders. Search for “congenital bile acid synthesis defect type 1” for detailed information about this condition.
  • The Congenital Bile Acid Synthesis Defects Support and Advocacy Center: This organization provides support, resources, and information for individuals and families affected by congenital bile acid synthesis defects.
  • PubMed: A database of scientific articles on various topics, including congenital bile acid synthesis defect type 1. Search for “congenital bile acid synthesis defect type 1” to find more articles on this rare condition.

References