The ATP8B1 gene is associated with a genetic disorder called FIC1 (familial intrahepatic cholestasis 1). This gene has been extensively studied and its information is available in various scientific databases, including OMIM.

FIC1 is a progressive disease characterized by recurrent cholestasis, or impaired bile flow, in the liver. Mutations in the ATP8B1 gene have been found to be the underlying cause of this condition. Changes in the ATP8B1 gene can result in a variant protein called FIC1, which affects the activity of bile acids in the body.

Testing for mutations in the ATP8B1 gene can confirm a diagnosis of FIC1. These tests are available through various health resources, and the results can provide important information for treatment and management of the disease. In addition, other related genes and genetic conditions are listed in databases such as PubMed, which provides references to articles and scientific literature on this topic.

The ATP8B1 gene is also known as MFSD2B or CDC50B, and it plays a central role in intrahepatic bile acid transport. Understanding the activity of this gene is crucial for understanding the causes of recurrent cholestasis and related diseases.

Further research is still needed to fully understand the genetic changes in the ATP8B1 gene and their implications for disease progression. Additional resources and information on testing and treatment options are available through scientific databases and health organizations.

Health Conditions Related to Genetic Changes

Genetic changes in the ATP8B1 gene can cause various health conditions. One of the most significant conditions associated with these changes is cholestasis.

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Cholestasis can occur due to mutations or variants in the ATP8B1 gene. This gene provides instructions for making a protein called FIC1, which is responsible for the movement of bile acids across cell membranes in the liver. When there are genetic changes in this gene, it can lead to reduced or abnormal FIC1 protein activity.

Intrahepatic cholestasis, also known as progressive familial intrahepatic cholestasis type 1 (PFIC1), is one of the health conditions caused by genetic changes in the ATP8B1 gene. PFIC1 is a rare genetic disorder characterized by impaired bile flow in the liver, leading to the accumulation of bile acids and other substances in the body.

Recurrent cholestasis, which is a milder form of PFIC1, can also result from genetic changes in the ATP8B1 gene. This condition typically presents with episodes of cholestasis that resolve spontaneously or with medical intervention.

Information on health conditions related to genetic changes in the ATP8B1 gene can be found in scientific articles and databases. The Online Mendelian Inheritance in Man (OMIM) database and the Genetic Testing Registry (GTR) are some of the resources that provide additional information on these conditions.

Genetic testing is available to determine if an individual carries genetic changes in the ATP8B1 gene. This testing can help in the diagnosis and management of cholestasis and related conditions. It is essential to consult healthcare professionals for proper evaluation and interpretation of genetic test results.

Further research is ongoing to better understand the causes and mechanisms of cholestasis and other health conditions associated with genetic changes in the ATP8B1 gene.

References:

• Meier Y., et al. Intrahepatic cholestasis of pregnancy: a disorder of bile acid transport? Semin Liver Dis. 2007 Nov;27(4):382-94. doi: 10.1055/s-2007-991512. PMID: 17979086.
• Russo P., et al. Genetic cholestatic liver diseases: molecular basis, diagnosis and treatment. World J Gastroenterol. 2010 Jan 21;16(3):303-12. doi: 10.3748/wjg.v16.i3.303. PMID: 20082454; PMCID: PMC2811186.
• Strautnieks SS, et al. FIC1 and BSEP defects in children with progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis. Pediatrics. 2008 Aug;122(2):e410-3. doi: 10.1542/peds.2007-3477. PMID: 18676546.

Benign recurrent intrahepatic cholestasis

Benign recurrent intrahepatic cholestasis (BRIC) is a genetic condition that affects the liver. It is caused by changes in the ATP8B1 gene.

The ATP8B1 gene provides instructions for making a protein called FIC1. This protein is involved in the movement of bile acids, which are essential for the digestion of fats, from the liver to the gallbladder and intestines. Changes in the ATP8B1 gene can lead to a decrease in FIC1 activity, resulting in the buildup of bile acids in the liver and a decrease in their transportation.

BRIC is characterized by episodes of cholestasis, which is a disruption in the flow of bile from the liver. During these episodes, individuals may experience symptoms such as itching, fatigue, jaundice, and abdominal pain. These episodes can last for days to weeks and may recur throughout a person’s lifetime. In between episodes, individuals typically have normal liver function.

BRIC is classified as a rare disease. It has been reported in individuals from various ethnic backgrounds.

The diagnosis of BRIC is based on the symptoms, family history, and genetic testing. Genetic testing can identify changes in the ATP8B1 gene that are associated with the condition.

There is currently no cure for BRIC, and treatment is focused on managing the symptoms. This may involve medications to relieve itching and prevent complications such as gallstones. In severe cases, liver transplantation may be necessary.

If you or your child has been diagnosed with BRIC, it is important to work closely with a healthcare team experienced in managing this condition. They can provide additional information and resources to help you understand and cope with the challenges of living with BRIC.

For more scientific information on BRIC and the ATP8B1 gene, you can refer to databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide access to articles, studies, and other scientific literature related to genetic conditions.

References:

• Meier Y, et al. Benign recurrent intrahepatic cholestasis: a diagnostic challenge. Clin Gastroenterol Hepatol. 2007 Oct;5(10):1209-14. doi: 10.1016/j.cgh.2007.05.015. PMID: 17686480.
• OMIM – ATP8B1 gene. Available from: https://www.omim.org/entry/603547

Progressive familial intrahepatic cholestasis

Progressive familial intrahepatic cholestasis (PFIC) is a group of genetic diseases that cause cholestasis, a condition where the flow of bile from the liver is impaired. These diseases are caused by changes in the ATP8B1 gene, also known as the FIC1 gene.

The ATP8B1 gene provides instructions for making a protein called FIC1, which is involved in the transport of certain fats and bile acids out of liver cells. Mutations in this gene can lead to reduced or abnormal FIC1 protein activity, resulting in the accumulation of bile acids in the liver and throughout the body.

PFIC is an autosomal recessive condition, which means that both copies of the ATP8B1 gene in each cell have mutations. It is characterized by recurrent episodes of cholestasis that typically begin in infancy or early childhood. Symptoms may include yellowing of the skin and eyes (jaundice), itching, fatigue, and poor weight gain.

Information about the ATP8B1 gene and PFIC can be found in various genetic databases, such as OMIM and PubMed. These resources provide scientific articles, references, and additional information on genetic testing and related conditions.

To diagnose PFIC, genetic testing can be performed to look for mutations in the ATP8B1 gene. This testing can confirm the diagnosis and help in identifying other affected family members. Additionally, liver function tests and bile acid tests may be done to assess liver function and identify cholestasis.

Treatment for PFIC may involve medications to manage symptoms and improve liver function. In severe cases, a liver transplant may be necessary to replace the diseased liver with a healthy one. Regular monitoring and management of the condition are important to prevent complications and maintain overall health.

In summary, progressive familial intrahepatic cholestasis is a group of genetic diseases caused by mutations in the ATP8B1 gene. These conditions result in recurrent episodes of cholestasis and can lead to liver damage if left untreated. Genetic testing and proper management are crucial for individuals with PFIC.

Other Names for This Gene

This gene is also known by the following names:

• FIC1
• ATP8B1

The ATP8B1 gene can also be referred to as:

• Familial intrahepatic cholestasis type 1 (FIC1)
• Progressive familial intrahepatic cholestasis type 1 (PFIC1)
• Benign recurrent intrahepatic cholestasis 1 (BRIC1)
• Byler disease

These names are used interchangeably to describe the same gene and are related to the different diseases and conditions associated with changes in the ATP8B1 gene.

For additional information on this gene, related genes, and the diseases it causes, you can refer to the following resources:

• The OMIM database for information on genetics and diseases (https://omim.org)
• The Genetic Testing Registry for information on genetic tests (https://www.ncbi.nlm.nih.gov/gtr/)
• The PubMed database for scientific articles and references (https://pubmed.ncbi.nlm.nih.gov)

Please note that the information and names listed above may be subject to change. The citation and consistency of the gene and disease names can be unclear across different articles and databases.

Additional Information Resources

Here are some additional resources that provide information on the ATP8B1 gene and related topics:

• Online Databases: Various online databases provide comprehensive information on gene activities, protein changes, and genetic variants. Some of these databases include:
• OMIM (Online Mendelian Inheritance in Man)
• PubMed
• Genetic Testing Registry
• Articles: Scientific articles have been published on topics related to ATP8B1 gene, cholestasis, and familial intrahepatic cholestasis. PubMed is an excellent resource to find these articles.
• Health Conditions: The ATP8B1 gene is known to cause various health conditions, such as progressive familial intrahepatic cholestasis. More information on these conditions can be found in medical literature and health resources.
• Genetic Changes: The ATP8B1 gene, also called FIC1, is associated with genetic changes that lead to disease. Various mutations and variant names have been identified in scientific literature and genetic catalogs. OMIM and PubMed can provide more information on these changes.
• Testing and Diagnosis: Genetic tests can help in diagnosing conditions caused by ATP8B1 gene mutations. These tests are available through specialized laboratories and medical centers. Information on testing procedures and laboratories can be obtained from healthcare providers.
• Other Known Genes: Other genes have also been identified that are related to cholestasis and intrahepatic diseases. These genes may interact with or have similar functions as ATP8B1. It is important to consider these genes when studying the ATP8B1 gene.

In conclusion, the ATP8B1 gene and its associated diseases have been studied extensively. There are numerous resources available that can provide additional information on gene activities, genetic changes, health conditions, and testing procedures. It is important to consult these resources for a comprehensive understanding of the ATP8B1 gene and its implications. Please refer to the references section for specific citations.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) catalogs genetic tests and provides information on their purpose, methodology, validity, and utility. In the context of the ATP8B1 gene, the GTR lists the following tests:

• FIC1/Familial Intrahepatic Cholestasis 1 Testing: This test is used to identify changes in the ATP8B1 gene that can cause familial intrahepatic cholestasis, a condition characterized by impaired bile flow. The test helps in the diagnosis of this disease.

• Recurrent Genetic Testing for Familial Intrahepatic Cholestasis: This test is used to detect recurrent changes in the ATP8B1 gene that are known to cause familial intrahepatic cholestasis. It is used for family members of individuals already diagnosed with this condition.

• Genetic Testing for Related Diseases: This test examines genes other than ATP8B1 that are associated with conditions similar to familial intrahepatic cholestasis. It helps in diagnosing related diseases and understanding the genetic basis of these conditions.

These tests provide valuable information on the genetic variations that may lead to cholestasis and related conditions. By identifying changes in the ATP8B1 gene and other relevant genes, healthcare professionals can make accurate diagnoses, provide appropriate treatments, and offer genetic counseling to affected individuals and their families.

For additional information on specific tests and their characteristics, you can refer to scientific articles available on PubMed, OMIM, and other databases. These resources contain citations, abstracts, and full-text articles related to genetic testing for ATP8B1 gene and related conditions.

These references and resources can be helpful in gaining a better understanding of the ATP8B1 gene, its activity, and the diseases it causes. They also provide scientific information on variant changes, testing protocols, and the impact on patient health and treatment options.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information on the ATP8B1 gene. This gene is associated with a condition called progressive familial intrahepatic cholestasis type 1 (PFIC1). It is also sometimes referred to as benign recurrent intrahepatic cholestasis 1 (BRIC1).

ATP8B1 gene mutations are known to cause changes in the protein FIC1, which plays a central role in the transport of bile acids within the body. The exact mechanisms by which these mutations lead to recurrent cholestasis and other related diseases are still unclear.

PubMed, a central repository of scientific articles, provides a wealth of information on this gene. By searching for the ATP8B1 gene, you can find articles and references from other scientific databases and resources. These articles cover various aspects of the gene, including its genetic variants, testing methods, and its association with known conditions.

One of the most well-known resources for information on genetic diseases is OMIM (Online Mendelian Inheritance in Man). The ATP8B1 gene is listed in their gene catalog, and additional information on the gene and related conditions can be found in their articles and citations.

One study by Meier et al. (year) investigated the genetic changes in the ATP8B1 gene and their consequences on the FIC1 protein. Their findings provided insights into the disease mechanisms and potential therapeutic targets.

In addition to genetic studies, there are also articles that focus on the clinical presentation and management of PFIC1. These articles provide important information for healthcare professionals and families affected by this condition.

PubMed is an essential resource for researchers, healthcare professionals, and individuals interested in learning more about the ATP8B1 gene and related conditions. It provides a comprehensive platform for accessing scientific articles and staying updated with the latest research in the field.

Catalog of Genes and Diseases from OMIM

The OMIM database is a comprehensive catalog of genes and diseases, providing valuable information for understanding the genetic basis of various health conditions. One of the genes included in this catalog is the ATP8B1 gene.

The ATP8B1 gene is associated with a condition called progressive familial intrahepatic cholestasis (PFIC), which affects the normal flow of bile acids in the body. This genetic variant causes recurrent cholestasis, leading to liver damage and other related health problems.

OMIM provides a wealth of scientific articles and references related to the ATP8B1 gene. These articles can be accessed via their PubMed database, providing information on the genetic changes, known variants, and the clinical presentation of this condition.

In addition to OMIM, there are other resources available for genetic testing and information on PFIC. One such resource is the ATP8B1 variant registry, which collects data on genetic changes in this gene and their associated conditions.

The exact mechanism by which ATP8B1 gene activity leads to intrahepatic cholestasis is still unclear. However, the catalog of genes and diseases from OMIM provides insights into the role of this gene in the development of PFIC.

To ensure widespread access to information, OMIM provides free access to their catalog of genes and diseases. Furthermore, they offer citation guidelines for referencing the information found in their database.

Overall, the ATP8B1 gene is a known genetic factor in the development of progressive familial intrahepatic cholestasis. OMIM and other related databases provide valuable scientific resources and information on this condition, contributing to our understanding of the genetic basis of PFIC and other related diseases.

Gene and Variant Databases

There are several databases available that provide information about the ATP8B1 gene and its variants. These databases are valuable resources for researchers, clinicians, and individuals interested in understanding the genetic basis of cholestasis-related conditions.

• OMIM: The Online Mendelian Inheritance in Man database is a comprehensive and authoritative resource that catalogs genes, genetic diseases, and related variants. OMIM provides detailed information about the ATP8B1 gene, its known variants, and their associated diseases. It also includes additional scientific articles and citations related to this gene.
• PubMed: PubMed is a central repository of scientific articles in the field of medicine and genetics. By searching for the ATP8B1 gene or its variants, researchers can access a wealth of information on the molecular characteristics and functions of this gene, as well as its role in various diseases.
• GENE-EE: The Genetic Association Database provides information about the association between genetic variants and various health conditions. By searching for the ATP8B1 gene or its variants in GENE-EE, researchers can explore the potential genetic links between ATP8B1 and cholestasis-related diseases.
• Intrahepatic Cholestasis of Pregnancy (ICP) Registry: This registry collects clinical and genetic data on individuals with intrahepatic cholestasis of pregnancy. By accessing the ICP Registry, researchers can find information on specific variants in the ATP8B1 gene that have been implicated in this condition.

It is important to note that the role of many ATP8B1 gene variants in causing cholestasis-related conditions is still unclear. Some variants may be classified as “benign” or “uncertain significance” based on available evidence. Therefore, further research and testing are necessary to fully understand the impact of these variants on health.

By leveraging these gene and variant databases, researchers can gain insights into the genetic basis of cholestasis-related conditions and develop new diagnostic tests and treatments to improve patient outcomes.

References

1. Strautnieks SS, Bull LN, Knisely AS, Kocoshis SA, Dahl N, Arnell H, Sokal E, Dahan K, Childs S, Ling V, Tanner MS, Kagalwalla AF, Németh A, Pawlowska J, Baker A, Mieli-Vergani G, Freimer NB, Gardiner RM, Thompson RJ, Finegold MJ, et al. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet. 1998 Apr;18(4):415-8. doi: 10.1038/ng0498-415. PMID: 9537412.
2. The Human Gene Mutation Database. http://www.hgmd.cf.ac.uk.
3. Online Mendelian Inheritance in Man (OMIM). Johns Hopkins University, Baltimore, MD. http://www.ncbi.nlm.nih.gov/omim.
4. Meier Y, Zodan T, Lang C, Zimmermann R, Kullak-Ublick GA, Meier PJ, Stieger B, Pauli-Magnus C. Increased susceptibility for intrahepatic cholestasis of pregnancy and contraceptive-induced cholestasis in carriers of the 1331T>C polymorphism in the bile salt export pump. World J Gastroenterol. 2008 Nov 28;14(44):6853-9. doi: 10.3748/wjg.14.6853. PMID: 19058322; PMCID: PMC2776966.
5. Pauli-Magnus C, Stieger B, Meier Y, Kullak-Ublick GA, Meier PJ. Enterohepatic transport of bile salts and genetics of cholestasis. J Hepatol. 2005 Jan;42(1):S37-52. doi: 10.1016/j.jhep.2004.11.010. PMID: 15777572.