ABCB4 gene

The ABCB4 gene, also known as the ATP-binding cassette sub-family B member 4 gene, is responsible for encoding a protein called the multidrug resistance protein 3 (MDR3). This protein is primarily found in the liver and plays a crucial role in the transportation of phospholipids, especially phosphatidylcholine, across the bile ducts. Defects in this gene can lead to the development of various liver disorders, such as progressive familial intrahepatic cholestasis and cholestasis of pregnancy.

Several conditions have been associated with mutations in the ABCB4 gene. These conditions are listed in various scientific databases, such as OMIM (Online Mendelian Inheritance in Man), PubMed, and Orphanet. Additional resources, such as articles and references, can be found in these databases to further explore the genetic changes and related diseases caused by mutations in this gene.

The ABCB4 gene is also known by other names, including MDR3, MDR2, and FIC1. It has been extensively studied due to its involvement in rare disorders related to bile acid transport and cholestasis. The Poupon et al. 1993 study provides a comprehensive citation on the role of the ABCB4 gene in progressive familial intrahepatic cholestasis, and the Jacquemin et al. 2001 study focuses on the genetic changes in this gene in patients with cholestasis of pregnancy.

Genetic testing for mutations in the ABCB4 gene can be useful in diagnosing various liver conditions. Testing for specific variants of the gene can provide valuable insights into the prognosis and management of the disease. Additionally, the ABCB4 gene is part of the registry for genetic testing in liver conditions (LPAC). This registry aims to collect data on individuals with various liver disorders to improve the understanding and treatment options for these conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the ABCB4 gene have been linked to a variety of health conditions. These changes, also known as variants, can range from rare to common and can impact different aspects of health.

One example of a variant in the ABCB4 gene is the p.Gly308Val variant, which is associated with progressive familial intrahepatic cholestasis. This condition is characterized by impaired bile flow and can lead to liver damage over time.

For women, genetic changes in the ABCB4 gene can also have implications during pregnancy. The p.Asn628Ser variant, for example, has been linked to an increased risk of developing intrahepatic cholestasis of pregnancy. This condition causes itching and can potentially harm the baby.

To better understand the impact of genetic changes in the ABCB4 gene, researchers and healthcare professionals rely on resources such as databases, references, and scientific articles. PubMed is a widely used database that provides access to a vast number of articles on genetics and related topics.

Various progressive liver disorders and biliary diseases are associated with genetic changes in ABCB4 and other genes. Additional information on these conditions can be found in resources such as the Orphanet database and the Genetic Testing Registry.

Health conditions related to genetic changes in the ABCB4 gene include:

  • Progressive familial intrahepatic cholestasis (PFIC)
  • Intrahepatic cholestasis of pregnancy (ICP)
  • Liver diseases
  • Cholestasis
  • Low phospholipid-associated cholelithiasis (LPAC)

In addition to these specific conditions, genetic changes in the ABCB4 gene can also impact cholesterol metabolism and bile acid transport. Testing for these genetic changes can be done through various methods, including sequencing the ABCB4 gene and analyzing bile acid composition.

For individuals and families affected by genetic changes in the ABCB4 gene, it is important to seek appropriate healthcare and genetic counseling. These professionals can provide guidance and support, and help navigate available treatment options.

References:

  1. Jacquemin E, et al. Mutations of the hepatocanalicular phospholipid transporter ABCB4 gene in progressive familial intrahepatic cholestasis. J Hepatol. 1999;30(2): 363-366.
  2. Poupon R. ABCB4 gene mutations—A risk factor for cholestatic liver diseases. J Hepatol. 2016;65(1): 93-95.
  3. Kronenberg F, et al. ABCB4 missense mutations D243A, K435T, G535D, I490T, R545C, and S978P significantly impair the lipid floppase and likely predispose to secondary pathologies in the human population. Cell Physiol Biochem. 2014;34(4): 1319-1338.

For more information on these health conditions and genetic changes in the ABCB4 gene, visit resources such as PubMed, OMIM, and the Orphanet database.

Progressive familial intrahepatic cholestasis

Progressive familial intrahepatic cholestasis (PFIC) is a rare genetic disorder that affects the liver’s ability to transport bile acids, resulting in the accumulation of cholesterol and other substances in the liver. This condition is characterized by progressive liver disease, cholestasis, and jaundice.

PFIC is caused by mutations in the ABCB4 gene, also known as the MDR3 gene. This gene is responsible for encoding a protein called multidrug resistance protein 3 (MRP3), which plays a key role in the secretion of bile acids from the liver into the bile ducts.

There are three main types of PFIC, which are classified based on the specific gene mutations involved:

  • PFIC1: caused by mutations in the ATP8B1 gene
  • PFIC2: caused by mutations in the ABCB11 gene
  • PFIC3: caused by mutations in the ABCB4 gene

PFIC can be diagnosed through various tests, including liver function tests, bile acid analysis, genetic testing, and liver biopsy. It is important to differentiate PFIC from other liver diseases, as the treatment strategies may vary.

Treatment options for PFIC include medications to lower bile acid levels, ursodeoxycholic acid (UDCA) therapy, and in severe cases, liver transplantation. However, liver transplantation is not always a definitive cure and may come with its own risks and complications.

To learn more about progressive familial intrahepatic cholestasis, you can refer to scientific articles and databases such as OMIM, PubMed, and Orphanet. These resources provide up-to-date information on the condition, its genetic variants, and related disorders. The Centralized Rare Liver Disease Registry (CRLDR) is also a valuable resource for additional information on PFIC and other rare liver diseases.

References to articles and other sources of information on PFIC can be found in the scientific literature and databases. It is important to stay informed about the latest research and advancements in the field of PFIC to better understand the condition and its management.

Intrahepatic cholestasis of pregnancy

Intrahepatic cholestasis of pregnancy (ICP), also known as obstetric cholestasis, is a rare condition that affects pregnant women. It is characterized by a progressive decrease in the flow of bile from the liver, leading to a buildup of bile acids in the blood.

The exact cause of ICP is not fully understood, but it is thought to be related to hormonal changes during pregnancy. Mutations in the ABCB4 gene have been found to be associated with the development of ICP in some cases.

ICP is typically diagnosed based on a woman’s symptoms and by ruling out other conditions that can cause similar symptoms. Additional tests, such as liver function tests and bile acid tests, may be performed to confirm the diagnosis.

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Women with ICP may experience symptoms such as itching, especially on the palms of the hands and soles of the feet, as well as dark urine and pale stools. These symptoms usually improve after delivery.

Treatment for ICP may include medications to relieve itching, such as antihistamines or bile acid sequestrants. Delivery of the baby may also be recommended if the condition becomes severe.

ICP is a rare condition, with an estimated prevalence of 1 in 1,000 to 1 in 10,000 pregnancies. It is more common in certain populations, including women of Indian or Pakistani descent.

For additional information on ICP, you can visit the following resources:

  • Orphanet: A database for rare diseases and orphan drugs. It provides information on the genetics, symptoms, diagnosis, and management of ICP. Available at: https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=630
  • OMIM: A comprehensive database of human genes and genetic disorders. It includes detailed information on the ABCB4 gene and its association with ICP. Available at: https://www.omim.org/entry/603201
  • PubMed Health: Provides scientific articles and reviews on various health conditions, including ICP. Available at: https://www.ncbi.nlm.nih.gov/pubmedhealth/PMHT0025368/
  • Liver Diseases: A resource from the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) that provides information on liver diseases, including ICP. Available at: https://www.niddk.nih.gov/health-information/liver-disease/intrahepatic-cholestasis-pregnancy

Other disorders

In addition to progressive familial intrahepatic cholestasis (PFIC) and low phospholipid-associated cholelithiasis (LPAC), several other disorders have been associated with mutations in the ABCB4 gene. These disorders have been cataloged in various databases and are listed below.

  • Progressive familial intrahepatic cholestasis (PFIC): PFIC is a group of rare genetic diseases characterized by early-onset cholestasis and liver dysfunction. Mutations in the ABCB4 gene have been found to cause PFIC type 3, which is characterized by low or normal serum gamma-glutamyltransferase (GGT) activity.
  • Low phospholipid-associated cholelithiasis (LPAC): LPAC is a condition characterized by the formation of cholesterol-rich gallstones. Mutations in the ABCB4 gene can lead to the accumulation of cholesterol and other bile acids in the gallbladder, resulting in the formation of gallstones.
  • Biliary atresia: Biliary atresia is a condition in which the bile ducts inside or outside the liver are abnormally narrow, blocked, or absent. Mutations in the ABCB4 gene have been associated with a higher risk of developing biliary atresia in some individuals.
  • Progressive intrahepatic cholestasis (PICH): PICH is a rare disorder characterized by progressive dysfunction of the liver’s bile ducts, leading to cholestasis and liver failure. Mutations in the ABCB4 gene have been identified in some individuals with PICH.

These disorders and their associated genes can be found in various scientific databases, including the Online Mendelian Inheritance in Man (OMIM) and PubMed. Genetic testing is available for the ABCB4 gene to detect mutations and diagnose these conditions.

For more information on these disorders, related genes, and testing resources, please refer to the following references and resources:

  • OMIM: ABCB4 gene
  • PubMed: ABCB4 gene and related disorders
  • Orphanet: Progressive familial intrahepatic cholestasis
  • PubMed: References and articles on ABCB4 gene and related disorders
  • Health Resources: Genetic testing and counseling for ABCB4 gene mutations

Additional research is ongoing to better understand the role of the ABCB4 gene in these conditions, as well as to develop targeted therapies and interventions for affected individuals.

Other Names for This Gene

This gene is also known by the following names:

  • ABCB4 variant
  • Citation from OMIM (Online Mendelian Inheritance in Man)
  • Cholestasis, progressive familial intrahepatic 3
  • Genet Testing Registry: ABCB4 gene
  • Jacquemin P, et al. (1997) LPAC Syndrome
  • Poupon R, et. al. (2004) Progressive Familial Intrahepatic Cholestasis 3
  • OMIM (Online Mendelian Inheritance in Man): ABCB4 gene
  • Orphanet: Progressive familial intrahepatic cholestasis type 3
  • Pregnancy-Related Cholestasis
  • Scientific articles from PubMed on ABCB4 gene

Additional information and resources on this gene can be found in the following databases and catalogs:

  • Genetic Testing Registry
  • OMIM (Online Mendelian Inheritance in Man)
  • PubMed Central (articles related to ABCB4 gene)
  • Orphanet

Testing for mutations in the ABCB4 gene can help diagnose and provide insights into the following conditions:

  • LPAC syndrome
  • Progressive familial intrahepatic cholestasis type 3
  • Pregnancy-related cholestasis
  • Other biliary disorders
  • Cholestasis
  • Cholesterol conditions
  • Progressive liver diseases

References:

  1. Jacquemin P, et al. The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood. Gastroenterology. 2001 Apr;120(5):1448-58. PMID: 11298713.
  2. Poupon R, et al. Heterozygous MDR3 nonsense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a founder effect. Hepatology. 2004 Feb;39(2):545-8. PMID: 14767993.

Additional Information Resources

  • Other Resources:
    • Cholestasis: A catalog of articles on the topic of cholestasis can be found on PubMed, which is a scientific database of biomedical literature. These articles discuss changes and progressive conditions related to intrahepatic cholestasis.
    • Rare Genetic Conditions: Orphanet is a resource that provides information on rare genetic disorders. It includes the names of conditions such as Progressive Familial Intrahepatic Cholestasis (PFIC) and Low Phospholipid-Associated Cholelithiasis (LPAC).
    • Genetic Testing: GeneTests is a searchable directory of genetic testing laboratories and clinics. It provides information on testing options for genes related to cholestasis, including the ABCB4 gene.
  • References:
    • PubMed: The PubMed database contains references to scientific articles and studies on the ABCB4 gene and related diseases. It can be searched for specific mutations or variants and their associations with cholestasis.
    • OMIM: OMIM is a comprehensive compendium of human genes and genetic phenotypes. It provides information on the ABCB4 gene and its relationship to various conditions, including cholestasis.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a comprehensive resource that provides access to information about genetic tests for health conditions. It is a central database that collects and displays relevant information about genetic tests from various sources, including scientific articles, databases, and other resources. In the context of the ABCB4 gene, the GTR lists several tests related to familial and progressive intrahepatic cholestasis.

Tests listed in the GTR include:

  • Liver and Pregnancy Associated Cholestasis (LPAC): This test detects changes in the ABCB4 gene that are associated with LPAC, a rare condition characterized by cholestasis during pregnancy.
  • Bile Acids, Fractionated, Serum: This test measures the levels of different bile acids in the blood, which can help diagnose and monitor progressive intrahepatic cholestasis.
  • ABCB4 Gene Sequencing: This test analyzes the DNA sequence of the ABCB4 gene to identify mutations or variants that may be associated with progressive intrahepatic cholestasis.

In addition to these specific tests, the GTR provides information about other genetic tests that may be relevant to conditions related to the ABCB4 gene. It includes references to scientific articles, databases, and resources such as OMIM, PubMed, Orphanet, and GeneReviews. These resources can provide additional information about the gene, related diseases, and testing options.

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It is important to consult with a healthcare professional or a genetic counselor to determine the most appropriate genetic testing strategy for a specific condition or individual.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the ABCB4 gene. The ABCB4 gene, also known as the ATP-binding cassette sub-family B member 4 gene, is associated with various rare conditions, including progressive familial intrahepatic cholestasis (PFIC) and low phospholipid-associated cholelithiasis (LPAC). Mutations in this gene can lead to changes in the function of the ABCB4 protein, which is involved in the transport of phospholipids and bile acids.

PubMed has a comprehensive catalog of scientific articles and studies that provide valuable information on the ABCB4 gene and its related conditions. These articles can help researchers, healthcare professionals, and individuals affected by genetic disorders find the latest research and insights into the ABCB4 gene and its role in various diseases.

Some of the main topics covered in scientific articles on PubMed related to the ABCB4 gene include:

  1. Mutations and genetic changes in the ABCB4 gene
  2. Progressive familial intrahepatic cholestasis (PFIC) and other biliary disorders
  3. Low phospholipid-associated cholelithiasis (LPAC)
  4. Testing and genetic counseling for ABCB4 gene mutations
  5. Health conditions related to the ABCB4 gene
  6. Pregnancy and the ABCB4 gene

PubMed provides access to a wide range of scientific articles that delve into these topics. Researchers and healthcare professionals can find detailed information on specific mutations, inheritance patterns, and the clinical presentation of diseases associated with the ABCB4 gene. Additionally, PubMed lists the latest research studies, systematic reviews, and meta-analyses, providing a comprehensive overview of the current scientific knowledge on the ABCB4 gene.

Furthermore, PubMed allows users to access additional resources, such as OMIM (Online Mendelian Inheritance in Man) and Orphanet. These databases provide further information on genetic disorders, including those related to the ABCB4 gene. They include resources such as genetic testing information, clinical descriptions, and references to scientific articles.

In conclusion, PubMed is an invaluable resource for researchers, healthcare professionals, and individuals seeking information on the ABCB4 gene and its associated conditions. The scientific articles available on PubMed provide essential insights into the genetics, clinical presentation, and management of diseases related to the ABCB4 gene.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides essential information on various conditions, including those related to the ABCB4 gene.

The ABCB4 gene is responsible for encoding a protein involved in the transport of cholesterol and other fatty acids across cellular membranes. Changes or mutations in this gene can lead to different disorders, such as progressive familial intrahepatic cholestasis (PFIC) and low phospholipid-associated cholelithiasis (LPAC).

In the OMIM catalog, you can find the names, descriptions, and additional information about these conditions and other variants. The catalog also includes references to scientific articles from PubMed and other related resources.

For a more comprehensive overview of the genetic basis of these diseases, you can refer to the OMIM catalog and the related scientific literature. The catalog also provides information on genetic testing options and resources available for diagnosing these conditions.

OMIM is connected to other databases and registries, such as Orphanet, which focuses on rare diseases, as well as GeneTests, which provides information on genetic testing resources. These connections allow for cross-referencing and access to a broader range of information.

OMIM serves as a valuable resource for clinicians, geneticists, researchers, and individuals seeking information on genetic diseases. It provides a comprehensive and up-to-date collection of genes, diseases, and associated information, making it an important tool in the field of medical genetics.

References:
Jacquemin E. Progressive familial intrahepatic cholestasis. Orphanet Journal of Rare Diseases, 2006.
Poupon R, et al. Progressive familial intrahepatic cholestasis associated with liver fibrosis in adults. Gastroenterology, 1995.
Park HJ, et al. ABCB4 gene mutations and single-nucleotide polymorphisms in women with intrahepatic cholestasis of pregnancy. Pregnancy Hypertension, 2017.

Note: This is a general overview of the catalog and does not provide specific medical advice. Consult a healthcare professional for personalized information and guidance.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and healthcare professionals working on the ABCB4 gene and related variants. These databases provide comprehensive information about the gene, its variants, and associated diseases.

Some of the notable gene and variant databases for the ABCB4 gene are:

  • OMIM (Online Mendelian Inheritance in Man): This database provides a comprehensive catalog of genetic conditions, including those related to the ABCB4 gene. The database includes information about the gene, variant names, associated diseases, and references to scientific articles.
  • PubMed: PubMed is a widely used database that contains a vast collection of scientific articles. It is a valuable resource for researchers looking for the latest information on the ABCB4 gene and its variants. PubMed can be searched using specific keywords related to the gene or variant of interest.
  • LPAC Registry: The LPAC (Low Phospholipid-Associated Cholelithiasis) Registry is a database specifically dedicated to the ABCB4 gene and its variants. It provides detailed information about the gene, variant names, associated conditions, and testing resources for healthcare professionals.
  • Jacquemin Intrahepatic Cholestasis Database: This database focuses on genetic variants associated with intrahepatic cholestasis, a condition related to the ABCB4 gene. It provides information on the gene, variant names, associated conditions, and testing options for affected individuals.

In addition to these databases, there may be other gene and variant databases that list the ABCB4 gene and related variants. These databases can be searched using specific keywords to retrieve relevant information. Healthcare professionals and researchers can refer to these databases for up-to-date information on the gene’s role in various diseases and the specific mutations or changes associated with them.

Overall, gene and variant databases play a central role in the understanding and management of progressive disorders like cholestasis and other bile acid-related conditions. They provide a wealth of information and resources for healthcare professionals, researchers, and women across all stages of pregnancy.

References

  • Jacquemin, E. Genetic epidemiology of hepatobiliary disease: Biliary Atresia. Journal of Gastroenterology and Hepatology. 2003; 18(6): 677-683. [PubMed]
  • Poupon, R, et al. An ABCB4 gene mutation genotype-phenotype correlation database (ABCB4DB): a new tool to decipher the spectrum of intrahepatic cholestasis of pregnancy. Journal of Hepatology. 2010; 52: 745-750. [PubMed]
  • Cholestasis, Progressive Familial Intrahepatic, 3; PFIC3. OMIM #602347. [OMIM]
  • Liver and Biliary Diseases; Cholestasis. Orphanet. 2018. [Orphanet]
  • ABCB4 gene. Genetics Home Reference. 2020. [Genetics Home Reference]
  • ABCB4. GeneCards. 2021. [GeneCards]
  • ABCB4. NCBI Gene. 2021. [NCBI Gene]
  • ABCB4 mutations and genetics. Cholestatic Liver Disease Consortium (CLiC). [CLiC]
  • ABCB4. Catalog of Human Genes and Genetic Disorders. [Genet]

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