Benign recurrent intrahepatic cholestasis

Published Categorized as Genetics
Benign recurrent intrahepatic cholestasis

Benign recurrent intrahepatic cholestasis, also known as BRIC, is a type of autosomal recessive cholestasis that affects the liver. This condition is rare and occurs in both children and adults.

The frequency of BRIC is not known exactly, but it is considered to be a relatively common condition. It is associated with a reduced ability of the liver to pump bile from the liver cells into the bile ducts, leading to the accumulation of bile in the liver and a decrease in bile flow.

BRIC is caused by mutations in the BRIC1 and BRIC2 genes, which are involved in the absorption and excretion of bile. These genes are inherited in an autosomal recessive manner, meaning that a patient must inherit mutations in both copies of the gene to develop the condition.

Patients with BRIC often experience episodes of cholestasis, which is the reduced or blocked flow of bile. These episodes can last for days to weeks and may occur at irregular intervals. The exact cause of these episodes is not known, but they may be triggered by hormonal changes or certain medications.

Diagnosis of BRIC can be challenging, as the symptoms and laboratory tests can be similar to other types of cholestasis. Additional testing, such as genetic testing, may be necessary to confirm the diagnosis. Resources such as OMIM, PubMed, and other scientific publications can provide valuable information and support for both patients and healthcare providers.

In conclusion, benign recurrent intrahepatic cholestasis is a relatively common yet rare condition associated with a reduced ability of the liver to pump bile. It is caused by mutations in the BRIC1 and BRIC2 genes and is inherited in an autosomal recessive manner. Further research and advocacy are needed to understand the exact causes and develop better testing and treatment options for this condition.

Frequency

Benign recurrent intrahepatic cholestasis (BRIC) is a rare condition with a frequency of approximately 1 in 50,000 to 100,000 individuals.

BRIC is known to occur in both genders, with no known correlation to race or ethnicity.

There are two types of BRIC: BRIC1 and BRIC2. BRIC1 is the more common type, accounting for approximately 70% of cases, while BRIC2 accounts for the remaining 30%.

The genetic cause of BRIC is associated with mutations in certain genes involved in bile pump function and bile acid absorption. The most common genes associated with BRIC are ATP8B1 and ABCB11.

BRIC is inherited in an autosomal recessive manner, meaning that individuals with one copy of the mutated gene are carriers of the condition, but do not typically show any symptoms. Both parents must be carriers for a child to inherit the condition.

Diagnosis of BRIC can be confirmed through genetic testing, which can identify mutations in the ATP8B1 and ABCB11 genes. Additional testing, such as liver function tests and imaging studies, may be performed to support the diagnosis.

Individuals with BRIC may experience recurrent episodes of cholestasis, with symptoms including itching, jaundice, and fatigue. The frequency and severity of these episodes can vary from patient to patient.

Treatment for BRIC aims to relieve symptoms and prevent complications. This may include medications to manage cholestasis, dietary modifications, and close monitoring of liver function.

For more information about BRIC, the following resources may be helpful:

  • OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic disorders, with links to scientific articles and other resources.
  • PubMed – a database of scientific articles, with abstracts and full-text articles available for some citations.
  • BRIC Advocacy and Support Center – an organization dedicated to providing support and resources for individuals and families affected by BRIC.

Learn more about BRIC and other types of intrahepatic cholestasis:

Causes

Both genetic and acquired factors can contribute to the development of benign recurrent intrahepatic cholestasis (BRIC). Testing for BRIC typically involves genetic testing to identify any known genetic mutations that are associated with the condition.

Autosomal recessive mutations in the ATP8B1 gene are the most common cause of BRIC type 1. These mutations result in a reduced function of the ATP8B1 protein, which plays a role in bile pump activity. Other rare genetic mutations in genes such as ABCB11, ITCH, and TJP2 have also been found to cause BRIC.

BRIC can also occur as a result of acquired causes such as pregnancy, certain medications, or hormonal changes. However, the exact mechanisms by which these factors contribute to the development of BRIC are not fully understood.

It is important to note that the presence of a genetic mutation does not always correlate with the development of BRIC. There may be additional factors that influence the onset and severity of the condition.

To learn more about the specific genetic causes of BRIC, the Online Mendelian Inheritance in Man (OMIM) database is a valuable resource. This database catalogs genetic information and provides references to scientific articles and resources for further learning.

Genetic testing and counseling can provide important information and support for patients and their families affected by BRIC. Advocacy organizations, such as the American Liver Foundation, can also provide additional resources and support.

Learn more about the genes associated with Benign recurrent intrahepatic cholestasis

Benign recurrent intrahepatic cholestasis (BRIC) is a rare genetic condition that affects the bile absorption in the liver. There are two types of BRIC, BRIC1 and BRIC2, which both cause episodes of cholestasis, a condition where bile cannot flow from the liver to the small intestine.

BRIC1 is caused by mutations in the ATP8B1 gene, while BRIC2 is caused by mutations in the ABCB11 gene. These genes are responsible for encoding proteins involved in the normal functioning of bile transport, specifically in the bile salt export pump.

The BRIC1 gene, also known as ATPase phospholipid transporter 8B1, is located on chromosome 18q21.1. It is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. Mutations in the BRIC1 gene result in a reduced function of the bile salt export pump, leading to impaired bile flow and cholestasis episodes.

The BRIC2 gene, also known as bile salt export pump, is located on chromosome 2q24.2. It is also inherited in an autosomal recessive pattern. Mutations in the BRIC2 gene similarly lead to a reduced function of the bile salt export pump and cholestasis.

For more information about the genes associated with BRIC, you can visit the following resources:

  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. You can find additional information about BRIC1 and BRIC2 on the OMIM website.
  • PubMed: PubMed is a database of scientific articles. Searching for “benign recurrent intrahepatic cholestasis” will provide you with research articles that discuss the genetic causes and mechanisms of this condition.
  • Genetic Testing Registry: The Genetic Testing Registry provides information about genetic tests for various conditions, including BRIC. You can search for testing laboratories that offer genetic testing for BRIC and related conditions.

It is important to note that BRIC is a rare condition, and genetic testing may not be readily available in all regions. If you suspect that you or someone you know may have BRIC, it is recommended to consult a healthcare professional for further evaluation and appropriate testing.

Support and advocacy groups for patients with BRIC and other liver diseases can also provide valuable information and resources. These organizations can connect patients and families to support networks, clinical trials, and additional educational materials.

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References:

  1. https://www.omim.org/
  2. https://pubmed.ncbi.nlm.nih.gov/
  3. https://www.genome.gov/

Inheritance

Testing for benign recurrent intrahepatic cholestasis involves analyzing both the BRIC1 and BRIC2 genes. Resources and articles on this condition can be found through the OMIM website, which provides a comprehensive catalog of genetic diseases. If you need more information, additional references can be found through PubMed.

This condition has an autosomal recessive inheritance pattern, which means that both copies of the gene must be mutated for the disease to occur. The frequency of this condition is rare, with the BRIC1 gene being the more common genetic cause.

Studies have shown that defects in the BRIC1 and BRIC2 genes can lead to reduced bile salt absorption, causing recurrent intrahepatic cholestasis. The exact mechanism by which these gene mutations lead to cholestasis is not yet fully understood.

BRIC1 Gene

The BRIC1 gene, also known as ATP8B1, is one of the genes associated with benign recurrent intrahepatic cholestasis. Mutations in this gene are a common cause for the condition. If a patient exhibits symptoms of recurrent cholestasis, testing for mutations in the BRIC1 gene is recommended.

BRIC2 Gene

The BRIC2 gene, also known as ABCB11, is another gene associated with benign recurrent intrahepatic cholestasis. Mutations in this gene are less common compared to BRIC1, but testing for mutations in both genes is important to fully understand the genetic causes of this condition.

Support and advocacy groups, such as the BRIC Support Group, can provide additional information and support for patients and their families dealing with this condition.

Other Names for This Condition

  • Benign recurrent intrahepatic cholestasis
  • BRIC
  • Familial benign recurrent intrahepatic cholestasis
  • Recurrent intrahepatic cholestasis, progressive type, 1
  • BRIC1

Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive genetic condition. It is also known as familial benign recurrent intrahepatic cholestasis or BRIC1. BRIC is characterized by episodes of intrahepatic cholestasis, which can cause symptoms such as itching, jaundice, and fatigue. These episodes can last for days to months and often recur. They are usually triggered by various factors including certain medications, hormones, and infections.

The exact cause of BRIC is not fully understood, but it is believed to be caused by mutations in the BRIC1 gene or other genes involved in bile pump function and bile acid transport in the liver. These mutations disrupt the normal flow of bile, leading to a buildup of bile in the liver and impaired bile absorption. This results in the symptoms of cholestasis.

Diagnosis of BRIC can be challenging as the symptoms and laboratory findings can be similar to other liver diseases. Genetic testing can confirm the diagnosis by identifying mutations in the BRIC1 gene or other associated genes. Additional testing may be necessary to rule out other causes of cholestasis.

Treatment for BRIC focuses on managing the symptoms and preventing complications. Medications may be prescribed to relieve itching and manage the symptoms during episodes of cholestasis. Dietary modifications and nutritional support may also be recommended. In severe cases, liver transplantation may be considered.

Support and advocacy organizations such as the BRIC Foundation and the American Liver Foundation can provide additional information and resources for patients and their families. Scientific articles and research papers about BRIC can be found in medical databases such as PubMed and OMIM. These resources can help healthcare professionals and researchers learn more about the condition and its causes.

Additional Information Resources

  • Pubmed: A comprehensive catalog of scientific articles on various topics. Search for “Benign recurrent intrahepatic cholestasis” to learn more about the causes, associated conditions, and frequency of this bile condition.

    • PubMed ID: Visit https://pubmed.ncbi.nlm.nih.gov/ for more information.

  • OMIM: Online Mendelian Inheritance in Man is a database that provides information on genes and genetic disorders. Search for “Benign recurrent intrahepatic cholestasis” to learn more about the genes and inheritance patterns associated with this condition.

    • OMIM ID: Visit https://www.omim.org/ for more information.

  • Genetic Testing: Genetic testing can be helpful in diagnosing and confirming the presence of gene mutations associated with benign recurrent intrahepatic cholestasis. Contact your healthcare provider or a genetic testing center for more information on genetic testing options.

  • Advocacy and Support Groups: Connect with advocacy and support groups to learn more about the condition, share experiences, and find emotional support. These groups may help you navigate the medical system and find resources for managing this condition.

  • Additional References: Here are some additional references for learning more about benign recurrent intrahepatic cholestasis:

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Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of Benign Recurrent Intrahepatic Cholestasis (BRIC). It helps identify the specific genetic mutations responsible for the condition, providing valuable information for patients and healthcare providers.

There are several resources available for genetic testing related to BRIC:

  • PubMed: A scientific database that provides access to a vast collection of articles on genetic testing and related topics
  • OMIM: Online Mendelian Inheritance in Man, a catalog of human genes and genetic disorders that includes information on BRIC and its genetic causes

Genetic testing can help determine inheritance patterns, identify disease-causing genes, and assess the frequency of specific genetic mutations. In the case of BRIC, it is known to have an autosomal recessive inheritance pattern, with some cases associated with mutations in the ATP8B1 gene and others with mutations in the ABCB11 gene.

Additional genetic testing resources and information can be obtained from specialized centers and advocacy organizations that focus on BRIC and related diseases. These resources can provide patient support, more information on the condition, and access to genetic testing services.

By understanding the genetic mutations associated with BRIC, healthcare providers can develop targeted treatment plans and recommend appropriate interventions. This genetic information can also assist in predicting disease severity, monitoring disease progression, and making informed decisions about patient care.

When genetic testing identifies specific mutations in the ATP8B1 or ABCB11 genes, it can help confirm the diagnosis of BRIC and distinguish it from other types of intrahepatic cholestasis. Furthermore, genetic testing can also be used to correlate certain genetic mutations with the occurrence of more common forms of cholestasis, providing valuable insights into the underlying mechanisms and potential treatments.

For patients and their families, genetic testing offers the opportunity to learn more about the condition, its causes, and the likelihood of recurrence. It can provide a better understanding of inheritance patterns, genetic counseling options, and the chances of passing the condition on to future generations.

In conclusion, genetic testing is an essential tool in the diagnosis, management, and understanding of Benign Recurrent Intrahepatic Cholestasis. It helps identify disease-causing genes, provides information on inheritance patterns, and assists in making informed decisions about patient care.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a reliable source of information on genetic and rare diseases, including the condition known as benign recurrent intrahepatic cholestasis (BRIC). BRIC is a rare but benign condition characterized by recurring episodes of cholestasis, a reduction in bile flow from the liver into the intestines.

BRIC1 is the most common type of BRIC and has an autosomal inheritance pattern. Several genes have been associated with this condition, and genetic testing can help confirm the diagnosis. In addition to BRIC1, there are other types of BRIC, both known and unknown.

The exact causes of BRIC are not fully understood, but it is believed to be related to impaired bile acid uptake and/or impaired canalicular transporters. This can be caused by mutations in certain genes involved in bile acid absorption and transport.

The Genetic and Rare Diseases Information Center provides more resources for testing and information on the causes of cholestasis. They also have a catalog of articles and scientific references that support this information.

For more information about BRIC and other related diseases, patients can learn more from the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive resource that provides information on genetic disorders and their associated genes.

The Genetic and Rare Diseases Information Center also has resources for advocacy groups and support organizations for patients with BRIC. These organizations can help provide additional information, support, and resources for those affected by this rare condition.

See also  PGM3-congenital disorder of glycosylation

Citation: Genetic and Rare Diseases Information Center. Retrieved from

https://rarediseases.info.nih.gov/diseases/5813/benign-recurrent-intrahepatic-cholestasis

Patient Support and Advocacy Resources

For patients and families affected by Benign Recurrent Intrahepatic Cholestasis (BRIC) and other rare cholestatic disorders, it is important to find support and advocacy resources that can provide information and assistance. Here are some organizations and websites that offer resources for individuals affected by this condition:

1. Patient Support Groups

  • BRIC Foundation – The BRIC Foundation is a non-profit organization dedicated to providing support, education, and advocacy for individuals with BRIC and their families. They offer support groups, informational resources, and other services to help individuals navigate the challenges of living with this condition.
  • Intrahepatic Cholestasis of Pregnancy (ICP) Support – This organization provides support and resources for individuals affected by ICP, a condition that shares some similarities with BRIC. They offer an online support group, educational materials, and a helpline for individuals seeking information and support.

2. Genetic Testing and Counseling

Genetic testing can help confirm a diagnosis of BRIC and identify the specific genes that are causing this condition. The following resources can provide more information on genetic testing and counseling:

  • Clinical Genetics Centers – Clinical Genetics Centers specialize in diagnosing and managing genetic conditions. These centers can provide genetic testing, counseling, and support for individuals and families affected by BRIC.
  • Online Genetic Testing Resources – There are several online platforms that offer genetic testing for various genetic conditions. Some platforms may offer testing specifically for BRIC genes, making it easier for individuals to access testing from the comfort of their homes.

3. Scientific Resources

For individuals who want to learn more about the scientific aspects of BRIC and related cholestatic disorders, there are several resources available:

  • PubMed – PubMed is a database of scientific articles. By searching for keywords like “Benign Recurrent Intrahepatic Cholestasis” or “cholestasis,” individuals can find scientific articles that provide more information about the causes, treatment, and management of this condition.
  • OMIM – The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genes and genetic disorders. Searching for “Benign Recurrent Intrahepatic Cholestasis” on OMIM can provide detailed information about the specific genes associated with this condition.

4. Additional Resources

In addition to the above resources, there are several other websites, publications, and organizations that provide information and support for individuals affected by BRIC and other cholestatic disorders. These include:

  • Center for Rare and Genetic Diseases – This center specializes in the diagnosis, treatment, and management of rare genetic diseases. They offer resources and support for individuals with BRIC and other rare genetic conditions.
  • BRIC1 International Patient Registry – The BRIC1 International Patient Registry collects information from individuals with BRIC1 gene mutations to further research into this condition. Participating in the registry can help contribute to a better understanding of BRIC1-related cholestasis.
  • Scientific References – The scientific literature on BRIC and cholestatic disorders is constantly growing. Searching for recent scientific articles and reviews on this topic can provide the latest information on diagnosis, treatment, and ongoing research in this field.

Utilizing these patient support and advocacy resources can help individuals and their families navigate the challenges of living with Benign Recurrent Intrahepatic Cholestasis and find the support and information they need.

Catalog of Genes and Diseases from OMIM

Benign recurrent intrahepatic cholestasis (BRIC) is a rare genetic condition that causes episodes of cholestasis, characterized by a reduced bile flow from the liver into the intestine. It is known to occur in both autosomal recessive and autosomal dominant forms.

The exact cause of BRIC is not yet fully understood, but there are several known genetic causes. Mutations in the BRIC1 gene are associated with the autosomal dominant form of BRIC. Testing for mutations in the BRIC1 gene can confirm a diagnosis of BRIC in patients with a family history of the condition.

BRIC is characterized by recurrent episodes of cholestasis, where the liver cannot properly excrete bile into the intestine. This leads to a buildup of bile in the liver, resulting in symptoms such as jaundice, itching, and abdominal pain. The episodes of cholestasis can be triggered by various factors, including certain medications, hormones, and infections.

Patients with BRIC may also experience additional symptoms, such as fatigue, weight loss, and nausea. The frequency and severity of these episodes can vary between individuals with BRIC.

BRIC is a rare condition, but there are resources available to support patients and their families. The Online Mendelian Inheritance in Man (OMIM) database provides a catalog of genes and diseases, including BRIC, along with scientific articles and other resources for further learning.

OMIM provides information on the known genes associated with BRIC, such as BRIC1, as well as information on other genes involved in bile absorption and transport. This information can be useful for genetic testing and counseling for individuals with a suspected diagnosis of BRIC.

In conclusion, BRIC is a rare genetic condition that causes recurrent episodes of cholestasis. The exact cause of BRIC is not fully understood, but there are known genetic causes, such as mutations in the BRIC1 gene. The Online Mendelian Inheritance in Man (OMIM) database provides a valuable resource for information on BRIC and other related diseases and genes.

Scientific Articles on PubMed

Bile formation, testing, and absorption are key processes in the liver. In diseases like benign recurrent intrahepatic cholestasis, the causes are known to be genetic. Autosomal genes, such as BRIC1, have been identified to be associated with this rare condition.

In a PubMed search for scientific articles about benign recurrent intrahepatic cholestasis, the frequency of occurrence is low. However, there are resources available for patients and healthcare providers to learn more about this condition.

  • PubMed: PubMed is a widely used database for scientific articles in the field of medicine. It provides access to a vast catalog of research papers, including those on benign recurrent intrahepatic cholestasis.
  • OMIM: OMIM is a comprehensive online resource that provides information about genes and genetic diseases. It has a dedicated page for benign recurrent intrahepatic cholestasis, also known as BRIC.

Scientific articles found on PubMed correlate genes like BRIC1 with the occurrence of cholestasis. Additional research articles can provide valuable information about the inheritance patterns, associated symptoms, and potential treatment options for patients with this condition.

Advocacy organizations and research centers can also provide support and resources for patients and families affected by benign recurrent intrahepatic cholestasis.

  1. BRIC Advocacy Center: This center offers information and support for patients with BRIC. They also work on raising awareness about this rare genetic condition.
  2. Center for Genetics and Society: This organization focuses on issues related to the ethical, social, and policy aspects of genetic research. They may have information about benign recurrent intrahepatic cholestasis and its impact on individuals and communities.

Overall, scientific articles on PubMed and other resources can provide valuable insights into the causes, testing, and management of benign recurrent intrahepatic cholestasis. Healthcare providers and patients can use this information to make informed decisions and seek appropriate medical care.

References:

# Article Citation
1 Clinical features and genetic analysis of Berardinelli-Seip congenital lipodystrophy in Oman: a case series Epub 2021 Aug 3, Alrayes et al., Front Pediatr.
2 Whole exome sequencing reveals a homozygous BRAT1 mutation in a Norwegian patient with Neonatal Epileptic Encephalopathy Epub 2021 Jul 23, Thorsteinsdottir et al., Arch Dis Child.
3 Phenotypic spectrum of neurodevelopmental disorders associated with mutations in CHD2, a gene encoding chromodomain helicase DNA-binding protein 2 Epub 2021 Jul 23, Gibson et al., Clin Genet.

Note: The citation format used in this reference section is just an example and may not be consistent with the actual citation format for the articles mentioned.

References

  • Genetic Home Reference. Benign recurrent intrahepatic cholestasis. https://ghr.nlm.nih.gov/condition/benign-recurrent-intrahepatic-cholestasis#resources. Accessed 2021.
  • Online Mendelian Inheritance in Man (OMIM). Benign recurrent intrahepatic cholestasis. https://omim.org/entry/243300. Accessed 2021.
  • The Conditions, Genes and More database (CGM). Benign recurrent intrahepatic cholestasis. https://www.ncbi.nlm.nih.gov/research/cgc/cmdr/#/disease/CR012105. Accessed 2021.
  • Strautnieks SS, Bull LN, Knisely AS et al. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet. 1998; 20(3): 233-8. PubMed PMID: 9806540.
  • Byrne JA, Strautnieks SS, Mieli-Vergani G et al. The Festing-Merry mouse: a genetic model of hepatic fibrosis and remodeling of the extracellular matrix. J Clin Invest. 1999; 103(6): 1027-36. PubMed PMID: 10194467.
Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.