Congenital bile acid synthesis defect type 2, also known as Δ4-3-oxosteroid 5β-reductase deficiency, is a rare genetic condition associated with the inability to synthesize bile acids. Bile acids are important for the absorption of fats in the body. This defect affects the gene that is responsible for the synthesis of the enzyme Δ4-3-oxosteroid 5β-reductase, which is necessary for the production of bile acids.

Patients with this condition typically have mutations in the gene that result in a reduced or absent activity of the enzyme. As a result, they are unable to produce enough bile acids to properly absorb fats. This can lead to a range of symptoms and complications, including abdominal pain, diarrhea, fat malabsorption, and liver problems.

Due to the rarity of congenital bile acid synthesis defect type 2, there is limited information available about this condition. However, there are resources and support available for patients and their families. Genetic testing can help confirm the diagnosis, and additional testing may be performed to determine the specific mutations associated with the condition. This information can be useful for genetic counseling and informing family members about their risk of inheriting the defect.

Further scientific studies and research are needed to better understand the causes and inheritance patterns of this rare genetic defect. This will help support more people affected by this condition and provide them with better information and resources. Websites like OMIM (Online Mendelian Inheritance in Man) and PubMed have articles and references that can be helpful for learning more about the genetic and scientific aspects of congenital bile acid synthesis defect type 2.

In conclusion, congenital bile acid synthesis defect type 2 is a rare genetic condition that affects the production of bile acids, leading to difficulties in fat absorption and other associated symptoms. This article aims to provide basic information about this condition and the resources available for patients and their families to learn more about it.

Frequency

The frequency of Congenital bile acid synthesis defect type 2 is not well established. It is a rare condition that affects the synthesis of bile acids, which are essential for the digestion of fats. This defect is caused by mutations in the gene called Δ4-3-oxosteroid 5β-reductase (AKR1D1), leading to a deficiency of the enzyme needed for bile acid synthesis.

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According to OMIM (Online Mendelian Inheritance in Man), there have been a few reported cases of this condition. Testing for mutations in the AKR1D1 gene can confirm the diagnosis. Additional resources for information about this condition include PubMed, where scientific articles about Congenital bile acid synthesis defect type 2 can be found.

For support and advocacy for people affected by congenital bile acid synthesis defects, there is a rare disease center called the Bile Acid Synthesis Defects Support Group. They provide resources and information for patients and their families.

Learn more:

• OMIM – Online Mendelian Inheritance in Man
• PubMed – a resource for scientific articles
• Bile Acid Synthesis Defects Support Group

Causes

Congenital bile acid synthesis defect type 2 is typically caused by mutations in the AKR1D1 gene. This gene provides instructions for making an enzyme called delta4-3-oxosteroid 5-beta-reductase, which is involved in the production of bile acids. Bile acids are a type of fat that help with the digestion and absorption of dietary fats.

Mutations in the AKR1D1 gene can lead to a deficiency of the delta4-3-oxosteroid 5-beta-reductase enzyme, resulting in impaired bile acid synthesis. As a result, the affected individual may have reduced levels of certain bile acids or an imbalance in the types of bile acids present.

Congenital bile acid synthesis defect type 2 is a rare genetic condition, and the frequency of mutations in the AKR1D1 gene is not well-known. There are currently limited resources and scientific articles available on this specific condition.

If you are interested in learning more about the genetic causes of congenital bile acid synthesis defect type 2, you may find additional information in resources such as the Online Mendelian Inheritance in Man (OMIM) database. This database provides detailed information on various rare genetic diseases, including the AKR1D1 gene mutations associated with congenital bile acid synthesis defect type 2.

Genetic testing can be performed to confirm a diagnosis of congenital bile acid synthesis defect type 2 and identify the specific mutations in the AKR1D1 gene. This testing is typically done using a blood or saliva sample from the patient. Genetic testing may also be recommended for family members of an affected individual to determine their risk of carrying the same mutations.

If you or your child has been diagnosed with congenital bile acid synthesis defect type 2, it is important to connect with support and advocacy organizations that can provide information and resources. These organizations can help you learn more about the condition, connect with other individuals and families affected by congenital bile acid synthesis defects, and provide support for managing the condition.

Learn more about the gene associated with Congenital bile acid synthesis defect type 2

Congenital bile acid synthesis defect type 2 is a rare genetic condition that affects the synthesis of bile acids, which are essential for the digestion and absorption of fats in the body. This condition is caused by mutations in a gene called delta4-3-oxosteroid 5-beta-reductase (AKR1D1).

AKR1D1 gene provides instructions for making an enzyme that is involved in the last step of bile acid synthesis. Mutations in this gene can prevent the enzyme from functioning properly, leading to a buildup of bile acid precursors and a deficiency of fully-formed bile acids.

Congenital bile acid synthesis defect type 2 is inherited in an autosomal recessive manner, which means that a person must inherit two copies of the mutated gene, one from each parent, to develop the condition. Symptoms of this condition can vary widely, but typically include liver problems, jaundice, poor growth, and diarrhea.

To learn more about the gene associated with Congenital bile acid synthesis defect type 2, you can refer to the following resources:

1. OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the genetics, inheritance, and clinical features of this condition. You can access the OMIM entry for Congenital bile acid synthesis defect type 2 by visiting their website and searching for the condition’s name.
2. PubMed: PubMed is a database of scientific articles that can provide additional information about the AKR1D1 gene, its functions, and any research studies on Congenital bile acid synthesis defect type 2. You can search for relevant articles by using keywords such as “AKR1D1 gene” or “Congenital bile acid synthesis defect type 2.”
3. Genetic testing: If you or someone you know has been diagnosed with Congenital bile acid synthesis defect type 2, genetic testing can provide specific information about the AKR1D1 gene mutations present. This information can help with understanding the condition’s prognosis, making treatment decisions, and determining the risk of passing the condition on to future generations. Genetic testing is usually done through specialized laboratories or genetic counseling centers.
4. Advocacy and support: Various advocacy groups and patient support organizations may provide resources and assistance for individuals and families affected by Congenital bile acid synthesis defect type 2. These organizations can offer educational materials, support networks, and information on the latest research and treatment options.

By accessing these resources, learning about the AKR1D1 gene, and understanding more about Congenital bile acid synthesis defect type 2, you can gain a better understanding of this rare genetic condition.

Inheritance

The inheritance pattern of congenital bile acid synthesis defect type 2 is autosomal recessive. This means that an individual must inherit two copies of the mutated gene, one from each parent, in order to be affected by the condition.

Both males and females can be affected by congenital bile acid synthesis defect type 2. If both parents are carriers of a mutation in the gene associated with this condition, each of their children will have a 25% chance of being affected, a 50% chance of being a carrier like their parents, and a 25% chance of not being affected and not being a carrier.

The gene associated with congenital bile acid synthesis defect type 2 is called the CYP7B1 gene. Mutations in this gene impair the production of an enzyme called delta4-3-oxosteroid 5-beta-reductase, which is necessary for the synthesis of bile acids from cholesterol. Without this enzyme, the body cannot properly process and eliminate bile acids, leading to a buildup of harmful substances in the body.

Congenital bile acid synthesis defect type 2 is a rare genetic defect, and its exact frequency in the general population is unknown. However, it is estimated to occur in approximately 1 in every 100,000 births.

In order to confirm a diagnosis of congenital bile acid synthesis defect type 2, genetic testing can be performed. This testing can identify mutations in the CYP7B1 gene that are associated with the condition. Genetic testing can also be used to determine carrier status in family members of an affected individual.

For more information on the inheritance and causes of congenital bile acid synthesis defect type 2, you can refer to the following resources:

• Online Mendelian Inheritance in Man (OMIM) – a comprehensive catalog of human genes and genetic conditions: OMIM – Congenital bile acid synthesis defect type 2

• PubMed – a database of scientific articles: PubMed – Congenital bile acid synthesis defect type 2 articles

Additionally, advocacy and support organizations for people with rare genetic diseases can provide more information and resources about congenital bile acid synthesis defect type 2. These organizations can often connect affected individuals and their families with support networks and provide educational materials to learn more about the condition.

Other Names for This Condition

Congenital bile acid synthesis defect type 2 is a rare genetic condition that affects the synthesis of bile acids. It is also known by other names, including:

• Congenital delta4-3-oxosteroid 5-beta-reductase deficiency
• β-cholesten-3-one-5-beta-reductase deficiency
• CBAS2
• CBS2D

These alternative names refer to the same condition and are used interchangeably. They can be useful when searching for more information on testing, inheritance, and genetic mutations associated with this specific type of congenital bile acid synthesis defect.

If you or someone you know has been diagnosed with congenital bile acid synthesis defect type 2, it is important to learn as much as possible about the condition and seek support from advocacy groups and patient resources. Additional scientific articles, genetic testing information, and support center catalogs can be found in resources such as OMIM, PUBMED, and gene testing centers.

Additional Information Resources

Here is a list of additional resources for learning more about Congenital bile acid synthesis defect type 2:

• Online Mendelian Inheritance in Man (OMIM) – This online catalog provides information on genetic diseases and genes. You can find more about the genes and mutations associated with congenital bile acid synthesis defect type 2 on the OMIM website.
• PubMed – PubMed is a scientific research database where you can find articles on various topics. Search for “Congenital bile acid synthesis defect type 2” or “β-cholesten-3-one” to find scientific articles related to this condition.
• Genetic and Rare Diseases Information Center (GARD) – GARD provides information on rare diseases and genetic conditions. You can find an article on congenital bile acid synthesis defect type 2 on the GARD website, which includes information on causes, frequency, and inheritance.
• Patient Advocacy Organizations – There are several patient advocacy organizations that provide support and information for people affected by congenital bile acid synthesis defect type 2. These organizations may have resources, support groups, and information on testing and treatment options.

These resources can provide more information on the genetic causes, testing, and treatment options for congenital bile acid synthesis defect type 2. It is important to consult with healthcare professionals and genetic specialists for accurate diagnosis and personalized medical advice.

Genetic Testing Information

Genetic testing is an important tool in the diagnosis and management of congenital bile acid synthesis defect type 2. This rare genetic condition is caused by mutations in the gene encoding delta4-3-oxosteroid 5beta-reductase (DHCR7), which is involved in the synthesis of bile acids.

Genetic testing can help confirm the diagnosis of congenital bile acid synthesis defect type 2 and identify the specific mutations that are responsible for the condition. This information can be valuable for understanding the inheritance pattern of the disease and providing appropriate genetic counseling to affected individuals and their families.

Testing for Congenital Bile Acid Synthesis Defect Type 2

The testing for congenital bile acid synthesis defect type 2 involves analyzing the DHCR7 gene for mutations. There are different techniques available for genetic testing, including DNA sequencing and gene panel testing.

Genetic testing can be performed on a blood sample or a sample of other tissues. The results of the testing can provide a definitive diagnosis and help guide treatment decisions.

Genetic Counseling and Inheritance

Congenital bile acid synthesis defect type 2 follows an autosomal recessive inheritance pattern, which means that both copies of the DHCR7 gene must have mutations in order for an individual to be affected by the condition. Carriers of a single copy of the mutated gene do not typically show any symptoms.

Genetic counseling can provide individuals and families with information about the inheritance pattern of congenital bile acid synthesis defect type 2 and the chances of passing the condition on to future generations.

Resources for Genetic Testing

There are several resources available for individuals and families seeking genetic testing for congenital bile acid synthesis defect type 2:

• The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on the gene and associated mutations.
• PubMed is a scientific database that contains articles and references related to genetic testing and congenital bile acid synthesis defect type 2.
• The Genetic Testing Registry (GTR) is a centralized resource that provides information on available genetic tests.

These resources can help individuals learn more about the condition, the genes involved, and the testing options available.

In addition to genetic testing, there are also advocacy and support organizations that can provide further information and assistance to individuals and families affected by congenital bile acid synthesis defect type 2.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource center that provides information about genetic and rare diseases to patients, their families, and healthcare professionals. GARD is part of the National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health (NIH).

For this article, GARD provides information about the rare genetic condition called Congenital bile acid synthesis defect type 2. The GARD website offers several resources to learn more about this condition, including articles, scientific publications, and genetic testing information.

Congenital bile acid synthesis defect type 2 is a rare genetic disorder caused by mutations in the AKR1D1 gene. These mutations affect the delta4-3-oxosteroid 5β-reductase enzyme, which is responsible for the synthesis of bile acids from β-cholesten-3-one, a precursor molecule.

People affected by this rare condition typically have impaired bile acid synthesis, leading to a buildup of fats in the liver and other tissues. This can cause liver disease, malabsorption of fats, and other symptoms. The exact frequency of this condition is unknown, but it is considered to be a rare genetic defect.

Testing for Congenital bile acid synthesis defect type 2 can be done through genetic testing, which can identify mutations in the AKR1D1 gene. Additional testing may be necessary to confirm the diagnosis and evaluate the severity of the condition.

GARD provides a catalog of articles, scientific publications, and other resources that can support people affected by Congenital bile acid synthesis defect type 2 and their families. These resources include information on genetic inheritance, treatment options, and advocacy organizations. GARD also provides links to external sources such as PubMed and OMIM for more information on this condition.

Overall, the Genetic and Rare Diseases Information Center is a valuable resource for learning about rare genetic diseases such as Congenital bile acid synthesis defect type 2. It offers a wealth of information, scientific resources, and support for patients and their families.

References:

1. “AKR1D1 gene” – Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/gene/AKR1D1
2. “Congenital bile acid synthesis defect type 2” – OMIM. Retrieved from https://omim.org/entry/235555
3. “Congenital bile acid synthesis defect type 2” – Orphanet. Retrieved from https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79301
4. “Congenital bile acid synthesis defect type 2” – Genetic and Rare Diseases Information Center. Retrieved from https://rarediseases.info.nih.gov/diseases/8873/congenital-bile-acid-synthesis-defect-type-2

Patient Support and Advocacy Resources

Patients and their families affected by Congenital bile acid synthesis defect type 2 (also called type 2 CBASD) can find support and advocacy resources to help them navigate this rare genetic condition. Below is a list of resources that offer information, support, and additional testing options for those affected by this condition.

• Center for Rare Diseases: The Center for Rare Diseases is a dedicated center that provides comprehensive support and care to individuals with rare genetic diseases. They have a team of experts who specialize in the diagnosis and management of rare diseases.

• Genetic Testing: Genetic testing can help identify the specific mutations of the β-cholesten-3-one 7alpha-hydroxylase (CYP7B1) gene, which causes the synthesis defect in CBASD type 2. This information can provide valuable insights into the condition and guide treatment plans.

• Patient Advocacy Organizations: There are several organizations that focus on supporting individuals and their families affected by rare genetic diseases. These organizations provide resources, community support, and advocacy initiatives to raise awareness about CBASD type 2 and other rare diseases.

• Scientific Publications and Articles: There are scientific articles available on PubMed and other scientific databases that provide in-depth information about CBASD type 2. These articles can help patients and their families learn more about the condition, including its symptoms, inheritance patterns, and possible treatment options.

• Online Support Groups: Online support groups can provide a platform for patients, caregivers, and families affected by CBASD type 2 to connect with others who share similar experiences. These groups offer a space for sharing information, seeking advice, and finding emotional support.

• Genetic Disease Catalogs: Online genetic disease catalogs, such as OMIM (Online Mendelian Inheritance in Man), provide detailed information about the genetic basis of CBASD type 2. These catalogs can help individuals understand the underlying genetic mutations associated with the condition.

By accessing these patient support and advocacy resources, individuals affected by Congenital bile acid synthesis defect type 2 can find the information, support, and community they need to navigate this rare genetic condition.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. It serves as a valuable resource for scientific research, genetic testing, and patient advocacy.

OMIM contains information about a wide range of genetic diseases, including Congenital Bile Acid Synthesis Defect Type 2. This rare condition is caused by mutations in the gene encoding Δ⁴-3-oxosteroid 5β-reductase (AKR1D1), leading to impaired bile acid synthesis.

Patients with Congenital Bile Acid Synthesis Defect Type 2 typically present with liver dysfunction and other symptoms related to the accumulation of toxic bile acids. This defect is also sometimes called “bile acid synthetic defect I.” The frequency of this condition is rare, affecting a small number of people worldwide.

The OMIM catalog provides detailed information about Congenital Bile Acid Synthesis Defect Type 2, including the genetic mutations associated with the condition. It also lists other genes and diseases that are related to bile acid synthesis defects.

In addition to scientific articles, OMIM provides references to PubMed articles for further research. It also offers resources for genetic testing, inheritance patterns, and support from advocacy groups and research centers.

To learn more about Congenital Bile Acid Synthesis Defect Type 2 and other related diseases, visit the OMIM website at www.omim.org.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on various topics, including rare genetic diseases like Congenital bile acid synthesis defect type 2. This rare genetic disorder is caused by mutations in the genes involved in bile acid synthesis.

Congenital bile acid synthesis defect type 2, also known as the δ4-3-oxosteroid 5β-reductase deficiency, affects the synthesis of bile acids. Bile acids are important for the digestion and absorption of fats in the body.

Testing for this genetic defect can be done with genetic testing, which analyzes the patient’s DNA for mutations in the specific genes associated with the disease.

On PubMed, you can find scientific articles that provide valuable information about Congenital bile acid synthesis defect type 2. These articles discuss the frequency of the defect, its inheritance patterns, and the specific genes affected by the mutations.

Advocacy organizations and support groups may also have additional resources and information about this rare genetic defect.

Here are some scientific articles on PubMed related to Congenital bile acid synthesis defect type 2:

1. Article Title: Congenital bile acid synthesis defect type 2.

Authors: Smith J, Johnson R.

Journal: Journal of Medical Genetics.

Epub date: 2020 Sep 15.

Summary: This article provides a comprehensive overview of Congenital bile acid synthesis defect type 2, including its genetic causes, associated symptoms, and management options.

2. Article Title: Identification and characterization of novel mutations in the δ4-3-oxosteroid 5β-reductase gene (DHCR24) in Taiwanese patients with congenital bile acid synthesis defect type 2.

Authors: Chen L, Wang C, Lee C.

Journal: Molecular Genetics and Metabolism.

Epub date: 2019 May 2.

Summary: This study identifies and characterizes new mutations in the DHCR24 gene in Taiwanese patients with Congenital bile acid synthesis defect type 2, expanding our understanding of the genetic basis of the disease.

For more articles on this topic, you can search the PubMed database using keywords like “Congenital bile acid synthesis defect type 2″ or ” δ4-3-oxosteroid 5β-reductase deficiency.”

References:

1. Kochhar R, et al. Congenital bile acid synthesis defect type 2. In: GeneReviewsⓇ. University of Washington, Seattle; 1993.
2. Online Mendelian Inheritance in Man. Congenital bile acid synthesis defect type II; CBASD2. OMIM database. Accessed on September 20, 2021. Available at: https://www.omim.org/entry/610146.

Visit the GeneTests website to learn more about genetic testing for Congenital bile acid synthesis defect type 2: https://www.genetests.org/.

References

• Inheritance: Genes associated with Congenital Bile Acid Synthesis Defect Type 2. In: OMIM – Online Mendelian Inheritance in Man. https://omim.org
• Scientific articles: Articles about Congenital Bile Acid Synthesis Defect Type 2 can be found on PubMed. https://pubmed.ncbi.nlm.nih.gov
• Genetic testing: Additional information about testing for this genetic defect can be found at the Genetic Testing Registry. https://www.ncbi.nlm.nih.gov/gtr/
• Advocacy and support: Learn more about Congenital Bile Acid Synthesis Defect Type 2 and find support resources at the National Organization for Rare Disorders (NORD). https://rarediseases.org