Dubin-Johnson syndrome

Dubin-Johnson syndrome is a rare genetic condition that affects the liver. It is one of the rarest diseases, with only a few hundred cases reported worldwide. Dubin-Johnson syndrome is associated with the buildup of a pigment called bilirubin in the liver. The condition is named after the researchers who first described it, Drs. Harold Dubin and Victor Johnson.

The main symptom of Dubin-Johnson syndrome is long-term yellowing of the skin and whites of the eyes (jaundice). Most patients with this condition have no other associated health problems. The frequency of the condition is unknown, as it is so rare. However, through research and clinical trials, scientists have learned more about the causes and inheritance of this genetic syndrome.

The genetic cause of Dubin-Johnson syndrome has been identified. It is a mutation in a gene called the ABCB11 gene. This gene is responsible for producing a protein that helps transport bilirubin from the liver into the bile. When this gene is mutated, the bilirubin is not transported properly and builds up in the liver, causing the characteristic yellowing of the skin and eyes.

There are several resources available for patients and families affected by Dubin-Johnson syndrome. The National Institutes of Health’s Genetic and Rare Diseases Information Center (GARD) provides information about the condition, including links to scientific articles and clinical trials registered on ClinicalTrials.gov. Additional support and advocacy organizations can also provide more information and resources for those affected by this rare genetic condition.

Frequency

Dubin-Johnson syndrome is a rare genetic liver disorder characterized by a yellowing of the skin and the white part of the eyes, known as jaundice. It is inherited in an autosomal recessive manner, meaning both copies of the gene responsible must be mutated for the syndrome to be present in a patient.

The frequency of Dubin-Johnson syndrome is quite low, estimated to occur in approximately 1 in 200,000 to 1 in 1,000,000 individuals worldwide. The syndrome is more commonly observed in certain populations, including those of Middle Eastern, North African, and Ashkenazi Jewish descent.

There are additional rare genetic diseases associated with Dubin-Johnson syndrome, such as Rotor syndrome, which also causes jaundice. Studies suggest that these conditions may be caused by mutations in different genes, but they have similar symptoms and the presence of liver pigment deposits.

Information about the frequency of Dubin-Johnson syndrome and related disorders can be found in scientific articles, research studies, and genetic databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide up-to-date information about the genes involved, inheritance patterns, and long-term prognosis of the syndrome.

ClinicalTrials.gov is another valuable resource for patients and families seeking more information about Dubin-Johnson syndrome. It provides information on ongoing clinical trials, genetic testing options, and advocacy and support groups. It is important for individuals diagnosed with Dubin-Johnson syndrome to work closely with healthcare professionals specializing in liver diseases to manage symptoms and prevent complications.

References:

  • Dubin-Johnson syndrome. (n.d.). Retrieved from Genetic and Rare Diseases Information Center: https://rarediseases.info.nih.gov/diseases/6512/dubin-johnson-syndrome
  • Dubin-Johnson syndrome, OMIM ID: 237500. (n.d.). Retrieved from OMIM (Online Mendelian Inheritance in Man): https://omim.org/entry/237500
  • Genetic testing for Dubin-Johnson syndrome. (n.d.). Retrieved from PubMed: https://pubmed.ncbi.nlm.nih.gov/?term=dubin-johnson+syndrome+genetic+testing

Causes

Dubin-Johnson syndrome is a rare genetic condition that affects the liver. It is named after the scientists who first described it, Dr. Alec Dubin and Dr. Bernard Johnson. The exact frequency of this syndrome is not well-known, but studies suggest that it is more common in people of black African descent.

This condition is caused by mutations in the ABCC2 gene, which is responsible for the production of a protein called multidrug resistance-associated protein 2 (MRP2). This protein is involved in the transport of bilirubin, a yellow pigment that is formed when old red blood cells are broken down, out of the liver and into the bile ducts.

In people with Dubin-Johnson syndrome, there is a problem with the ABCC2 gene, which leads to a decrease in the function of the MRP2 protein. As a result, bilirubin is not effectively transported out of the liver, leading to an accumulation of bilirubin and the characteristic yellowing of the skin and eyes.

The inheritance pattern of Dubin-Johnson syndrome is autosomal recessive, which means that both copies of the ABCC2 gene must be mutated for the condition to develop. Individuals with only one mutated copy of the gene are carriers and do not typically show symptoms of the syndrome.

More research is needed to fully understand the causes and mechanisms of Dubin-Johnson syndrome. Scientific studies and genetic testing can provide additional information about this condition and its associated genes.

For more information about Dubin-Johnson syndrome, its causes, and genetic testing resources, you can visit the following websites:

  • OMIM: a catalog of human genes and genetic disorders. You can find information about Dubin-Johnson syndrome by searching for its OMIM ID: 237500.
  • PubMed: a database of scientific articles. You can search for research studies and articles about Dubin-Johnson syndrome to learn more about the condition.
  • ClinicalTrials.gov: a resource for finding clinical research studies. You can search for ongoing studies related to Dubin-Johnson syndrome.

Long-term advocacy and support groups for patients with Dubin-Johnson syndrome can also provide valuable resources and information for patients and their families.

Learn more about the gene associated with Dubin-Johnson syndrome

Dubin-Johnson syndrome is a rare genetic condition that affects the liver. It is characterized by the buildup of a brownish-black pigment called melanin in liver cells. This pigment causes permanent darkening of the liver, but it does not typically cause any long-term health problems or affect the function of the liver.

Scientists have identified the gene associated with Dubin-Johnson syndrome as ABCC2. The ABCC2 gene provides instructions for making a protein called multidrug resistance-associated protein 2 (MRP2). This protein is involved in the transport of certain substances out of liver cells, including bilirubin, a yellow pigment that is a byproduct of the breakdown of red blood cells.

Mutations in the ABCC2 gene can prevent the MRP2 protein from functioning properly. As a result, bilirubin and other substances accumulate in liver cells, leading to the yellowing of the skin and eyes that is characteristic of Dubin-Johnson syndrome.

Research on Dubin-Johnson syndrome and the ABCC2 gene is ongoing. Clinicaltrials.gov is a valuable resource for finding information on current research studies and clinical trials related to this condition. Additionally, PubMed, a database of scientific articles, contains a wealth of information on the genetic causes, inheritance patterns, and other aspects of Dubin-Johnson syndrome.

If you or a loved one has been diagnosed with Dubin-Johnson syndrome, it is important to learn as much as you can about the condition. This knowledge can help you better understand the syndrome and its potential impact on your health. There are several resources available, such as patient advocacy groups, genetic counseling centers, and support groups, that can provide additional information and support.

The Online Mendelian Inheritance in Man (OMIM) catalog is another useful resource for genetic information. It provides detailed information on the ABCC2 gene, including its frequency in different populations and its association with other diseases or conditions.

In summary, Dubin-Johnson syndrome is a rare liver condition associated with the ABCC2 gene. To learn more about this syndrome, its genetic causes, and available support resources, you can visit clinicaltrials.gov, PubMed, and the OMIM catalog.

Inheritance

Dubin-Johnson syndrome is a rare genetic condition that is inherited in an autosomal recessive manner. This means that both parents must carry a copy of the mutated gene for their child to have the condition. The gene responsible for Dubin-Johnson syndrome is called ABCC2.

Genetic studies have identified mutations in the ABCC2 gene that are associated with Dubin-Johnson syndrome. These mutations result in a dysfunction of the ABCC2 protein, which plays a role in the transport of bilirubin, a yellow pigment produced by the liver. As a result, bilirubin cannot be effectively eliminated from the liver cells, leading to its accumulation and causing the characteristic yellowing of the skin and eyes in individuals with Dubin-Johnson syndrome.

See Also:  FOXG1 syndrome

The frequency of Dubin-Johnson syndrome in the general population is currently unknown, but it is considered to be a rare condition. Most cases of Dubin-Johnson syndrome have been reported in individuals of Asian, African, and Middle Eastern descent.

ClinicalTrials.gov provides additional information about genetic testing and clinical trials related to Dubin-Johnson syndrome. Patients can search for studies that are currently recruiting participants and find more information about the condition.

For more information about Dubin-Johnson syndrome, the following resources may be helpful:

  • The Dubin-Johnson Syndrome Patient Advocacy Group
  • The National Organization for Rare Disorders (NORD)
  • The Online Mendelian Inheritance in Man (OMIM) database
  • PubMed, a database of scientific research articles

Long-term management of Dubin-Johnson syndrome typically involves monitoring liver function and addressing any liver-related problems that may arise. This may include regular liver testing, such as blood tests and imaging studies, to assess liver function and the presence of bilirubin deposits. Additional support and information can be obtained from the patient advocacy group and other resources mentioned above.

Other Names for This Condition

The following terms may be used to describe Dubin-Johnson syndrome:

  • Liver cell pigmentary cirrhosis
  • Chronic idiopathic jaundice
  • Chronic idiopathic hepatic jaundice
  • Hyperbilirubinemia type 2
  • Pigment metabolism disorder
  • DJP syndrome
  • Dubin-Johnson hyperbilirubinemia
  • Dubin-Johnson disease

These other names for Dubin-Johnson syndrome can help you find more information about the condition. More research articles about this condition are available on PubMed and can be found through the OMIM catalog of genes and genetic disorders. Additional resources and support for patients with Dubin-Johnson syndrome can be found at the Genetic and Rare Diseases Information Center, as well as through advocacy and support groups.

Long-term studies and clinical trials have provided more information about the frequency, causes, and inheritance patterns of Dubin-Johnson syndrome. Genetic testing can help diagnose the condition and identify specific gene mutations. Liver biopsies may also be used to examine the deposits of pigment in the liver.

For more information about ongoing clinical trials related to Dubin-Johnson syndrome, visit ClinicalTrials.gov. These studies aim to further understand the condition and develop new treatments or management options for patients.

Additional Information Resources

Below is a list of additional resources for learning more about Dubin-Johnson syndrome:

Scientific Articles:

  • Learn more about the genetic causes and inheritance of Dubin-Johnson syndrome on the Genetic Testing Registry website: Genetic Testing Registry
  • Read scientific studies on Dubin-Johnson syndrome from the PubMed database: PubMed
  • Find more information about the symptoms, causes, and treatment options for Dubin-Johnson syndrome on OMIM, a database of genetic disorders: OMIM

Patient Support and Advocacy:

  • Contact the Dubin-Johnson Syndrome Patient Support Center for patient and family support, as well as information about ongoing research and clinical trials: Dubin-Johnson Syndrome Patient Support Center
  • Join online discussion groups and connect with other individuals and families affected by Dubin-Johnson syndrome on the Genetic and Rare Diseases (GARD) Information Center website: GARD Information Center

Additional Resources:

  • Find more information on research studies, clinical trials, and treatment options for Dubin-Johnson syndrome on the ClinicalTrials.gov website: ClinicalTrials.gov
  • Learn about liver problems associated with Dubin-Johnson syndrome and other related conditions on the American Liver Foundation website: American Liver Foundation
  • Read more articles and resources on Dubin-Johnson syndrome on the National Organization for Rare Disorders (NORD) website: National Organization for Rare Disorders

Remember to consult with a healthcare professional for personalized information and advice regarding Dubin-Johnson syndrome.

Genetic Testing Information

Genetic testing can help individuals learn more about the Dubin-Johnson syndrome and its genetic causes. This long-term condition, also known as black liver syndrome, is rare and is associated with yellowing of the liver and other liver problems.

The genetic tests for Dubin-Johnson syndrome focus on analyzing specific genes that are known to be associated with the condition. Scientific research has identified several genes, including the ABCB11 gene, which plays a role in the transportation of bilirubin in the liver.

Patients who suspect they may have Dubin-Johnson syndrome can seek genetic testing as a diagnostic tool. This testing can provide information on the genetic variations that may be causing the syndrome. The results from genetic testing can help confirm the diagnosis and guide appropriate long-term management and treatment options.

Additional resources for genetic testing information on Dubin-Johnson syndrome can be found from research centers, genetic testing centers, and genetic counseling services. These services can provide more information about the syndrome, its inheritance patterns, and personalized support for individuals and families affected by the condition.

For more scientific information on Dubin-Johnson syndrome, individuals can refer to scientific articles, research studies, and medical journals. PubMed and OMIM (Online Mendelian Inheritance in Man) are reliable sources that provide a catalog of scientific articles and references related to this rare genetic condition.

In addition, clinicaltrials.gov can provide information on ongoing research studies and clinical trials related to Dubin-Johnson syndrome. This resource can inform patients about potential new treatment options and advances in understanding the underlying causes of the condition.

Overall, genetic testing and research resources can help individuals and healthcare providers gather valuable information about Dubin-Johnson syndrome, its genetic causes, and available support and advocacy resources. By learning more about this rare liver disorder, patients can take a proactive approach to managing their condition and accessing appropriate medical care.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a center that provides more information about Dubin-Johnson syndrome and other genetic and rare diseases. GARD offers a catalog of resources and additional information for patients, families, healthcare professionals, and researchers to learn more about this rare genetic condition. GARD is a reliable source of scientific and patient-focused information on a variety of rare genetic diseases.

Dubin-Johnson syndrome is a rare genetic condition characterized by long-term liver problems and yellowing of the skin and eyes. The condition is caused by changes (mutations) in the ABCC2 gene, which is involved in the transport of substances in and out of liver cells. The inheritance pattern of Dubin-Johnson syndrome is autosomal recessive, meaning that both copies of the ABCC2 gene must be mutated for the condition to be present.

At the GARD center, you can find information about the frequency and genetic causes of Dubin-Johnson syndrome, as well as the clinical features and long-term outlook for affected individuals. GARD also provides links to related articles and studies from resources such as PubMed and OMIM, where you can find more in-depth information about the condition.

In addition to information on Dubin-Johnson syndrome, GARD provides resources for genetic testing, clinical trials, and advocacy support for patients and families. GARD can help connect individuals with clinical trials and research studies that are investigating potential treatments or better understanding of the condition. GARD also offers information on genetic testing options and can help individuals find laboratories that offer testing for Dubin-Johnson syndrome.

For more information about Dubin-Johnson syndrome and other rare genetic diseases, visit the GARD center at https://rarediseases.info.nih.gov/.

Patient Support and Advocacy Resources

If you or a loved one has been diagnosed with Dubin-Johnson syndrome, you may have questions and concerns about the condition. Fortunately, there are resources available to provide support and information during this time.

Dubin-Johnson Syndrome Information:

  • Learn more: Visit the Dubin-Johnson Syndrome page on the National Organization for Rare Disorders (NORD) website for detailed information about the condition.
  • Patient resources: The Genetic and Rare Diseases Information Center (GARD) provides additional resources and information on Dubin-Johnson syndrome.
  • Scientific articles: PubMed is a valuable resource for accessing scientific articles and research on Dubin-Johnson syndrome. You can search for specific topics or keywords related to the condition.
  • Genetic testing: To learn more about genetic testing for Dubin-Johnson syndrome, you can visit the GeneTests website. They provide information about the genes associated with the condition, testing options, and clinical laboratories that perform these tests.
See Also:  CYP24A1 gene

Patient Support:

  • Patient advocacy organizations: There are several organizations that offer support and resources for individuals and families affected by Dubin-Johnson syndrome. One such organization is the Dubin-Johnson Syndrome Support Group, which provides a supportive community and connects individuals with resources and information.
  • Support groups: In addition to online resources, there may be local support groups or organizations dedicated to liver diseases that can provide additional support. These groups may offer opportunities to connect with others who have experienced similar challenges.
  • Long-term management: If you require long-term management for Dubin-Johnson syndrome or related liver deposits, your healthcare provider can guide you through appropriate treatment options and provide necessary care.

Research and Clinical Trials:

  • Genetic research: Ongoing genetic research is essential for advancing our understanding of Dubin-Johnson syndrome. You can find more information on current research studies and participation opportunities at clinicaltrialsgov.
  • Related diseases and conditions: Dubin-Johnson syndrome is a rare genetic condition, but there may be other genetic problems or diseases associated with liver dysfunction. OMIM is a comprehensive database that provides information on the inheritance patterns, frequency, and clinical characteristics of various genetic conditions.

Additional Resources:

  • Catalog of Human Genes and Genetic Disorders: The Catalog of Human Genes and Genetic Disorders (Online Mendelian Inheritance in Man, OMIM) provides a wealth of information on genetic disorders, including Dubin-Johnson syndrome.
  • Further reading: For more in-depth information on Dubin-Johnson syndrome and related topics, you can explore books and publications dedicated to liver diseases and genetic disorders.

Remember, you are not alone in your journey with Dubin-Johnson syndrome. These patient support and advocacy resources are here to help you navigate this condition and provide support along the way.

Research Studies from ClinicalTrialsgov

The Dubin-Johnson syndrome is a rare genetic condition associated with long-term yellowing of the liver. Research studies from ClinicalTrialsgov aim to learn more about this rare syndrome and support patients with this condition.

– ClinicalTrialsgov provides information about ongoing studies and clinical trials related to Dubin-Johnson syndrome.

– These studies and trials focus on genetic testing, inheritance patterns, and associated liver problems.

– Research studies are also conducted to understand the causes and frequency of this rare genetic condition.

Here are some additional resources and research studies from ClinicalTrialsgov:

– A genetic testing study to identify the genes responsible for Dubin-Johnson syndrome.

– Long-term studies to assess the impact of this condition on liver function and overall patient well-being.

– Scientific articles and references from PubMed and other sources provide valuable information about Dubin-Johnson syndrome and its genetic inheritance.

– Advocacy groups and organizations provide support and information for individuals with Dubin-Johnson syndrome.

– The Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive overview of genetic diseases, including Dubin-Johnson syndrome.

Genetic testing plays a crucial role in the diagnosis and management of this rare condition. ClinicalTrialsgov offers information about ongoing studies and trials focused on improving genetic testing techniques and understanding the underlying genes involved in Dubin-Johnson syndrome.

Moreover, research studies from ClinicalTrialsgov aim to investigate the accumulation of pigment deposits in the liver, which causes the characteristic yellowing seen in patients with Dubin-Johnson syndrome.

By conducting research and clinical trials, scientists hope to gain a better understanding of this rare genetic syndrome and develop improved treatments and management strategies for individuals affected by Dubin-Johnson syndrome.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource for information about various genetic conditions and the genes associated with them.

OMIM, or Online Mendelian Inheritance in Man, is a database that provides information about the inheritance patterns, causes, frequency, and other clinical features of genetic disorders. It is a valuable tool for researchers, clinicians, and patients seeking information about specific genetic conditions.

One of the diseases included in this catalog is Dubin-Johnson syndrome, a rare genetic condition characterized by a yellowing of the skin and long-term liver problems. Dubin-Johnson syndrome is caused by mutations in the ABCC2 gene, which is responsible for the transportation of certain molecules out of liver cells.

In addition to Dubin-Johnson syndrome, the catalog contains information about many other genetic diseases and the genes associated with them. It provides references to scientific articles, research studies, and genetic testing resources for each condition.

For those interested in learning more about Dubin-Johnson syndrome, the catalog provides links to additional resources such as PubMed, the National Institutes of Health’s database of scientific articles, and ClinicalTrials.gov, which provides information about ongoing clinical trials related to the syndrome.

The catalog also includes information about advocacy and support groups for patients with Dubin-Johnson syndrome and other genetic conditions. These organizations can provide support and resources for individuals and families affected by these conditions.

Genetic testing is available for many of the diseases listed in the catalog. Testing can help confirm a diagnosis, provide information about the inheritance pattern, and guide treatment decisions. Patients can find information about genetic testing centers and laboratories that offer testing for specific conditions.

Genes associated with Dubin-Johnson syndrome:

Gene Inheritance
ABCC2 Autosomal recessive

Other names for Dubin-Johnson syndrome:

  • Chronic idiopathic jaundice
  • Chronic jaundice
  • Conjugated hyperbilirubinemia, familial

This catalog is a valuable resource for researchers, clinicians, and patients seeking information about genetic diseases. It provides comprehensive information about the genes associated with these conditions, the clinical features, and available resources for testing and support.

Scientific Articles on PubMed

Dubin-Johnson syndrome is a rare genetic condition characterized by long-term yellowing of the liver and black deposits on its surface. It is caused by a gene mutation that affects the transportation of bilirubin, a substance that causes the yellowing of the skin and eyes in people with liver problems.

This syndrome has been the subject of various scientific studies and research, which can be found on PubMed, a database of scientific articles. These studies provide valuable information about the causes, inheritance patterns, and associated clinical conditions of Dubin-Johnson syndrome.

Through PubMed, patients and healthcare professionals can learn more about this rare genetic condition and find additional support and advocacy resources. The database provides information on genetic testing, clinical trials, and other research studies related to Dubin-Johnson syndrome.

Scientific articles on PubMed have contributed to the understanding of the frequency of this condition, its genetic basis, and its clinical implications. These articles often reference other research studies and provide a comprehensive catalog of information on Dubin-Johnson syndrome.

Furthermore, PubMed contains articles on other liver diseases and genetic disorders that may have overlapping symptoms or inheritance patterns with Dubin-Johnson syndrome. This allows researchers and healthcare professionals to compare and contrast different conditions and learn more about their genetic underpinnings.

Overall, the scientific articles available on PubMed offer a wealth of information on Dubin-Johnson syndrome and related liver disorders. They are a valuable resource for patients, healthcare professionals, and researchers looking to expand their knowledge on this rare genetic condition.

References

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