Primary sclerosing cholangitis

Published Categorized as Genetics
Primary sclerosing cholangitis

Primary sclerosing cholangitis (PSC) is a rare and complex liver disease with no known cure. It is characterized by inflammation and scarring of the bile ducts, which carry bile from the liver to the small intestine. PSC primarily affects adults, and its exact cause is still unknown.

Research and advocacy groups, such as PSC Partners Seeking a Cure, have been working tirelessly to increase awareness and support for patients with PSC. Through their efforts, each year brings new advancements in understanding the disease and possible treatment options.

Clinical trials and genetic studies play a significant role in unraveling the underlying causes of PSC. By identifying the genes responsible for the condition, researchers can better understand the genetic factors that contribute to its development. PubMed,, and other scientific databases provide valuable information on the latest studies and research articles on PSC.

Genome-wide association studies have revealed several genetic variants associated with an increased risk of developing PSC. However, the frequency of these genes in the PSC patient population is still relatively low. Additional research is needed to identify other potential genetic triggers and factors influencing the progression of the disease.

Understanding the genetic basis of PSC helps in the development of diagnostic testing and potential targeted therapies. By studying the function of specific genes and proteins involved in PSC, scientists hope to uncover new treatment strategies for this rare and challenging disease.

In conclusion, PSC is a rare liver condition that remains poorly understood. Ongoing research, genetic studies, and advocacy efforts help increase awareness, support, and scientific knowledge about PSC. By further investigating the genetic and clinical aspects of the disease, we can hope for improved diagnostic tools and treatment options for affected individuals.


The frequency of primary sclerosing cholangitis (PSC) varies among different populations and regions. It is estimated that PSC affects approximately 0.5 to 1.3 per 100,000 persons, making it a relatively rare condition.

Research suggests that PSC may have a genetic component, as it is more common in individuals who have a family history of the disease. Studies have identified several genes that may be associated with an increased risk of developing PSC, including HLA-DRB1, IL2-RA, and IL2RB. Genome-wide association studies and other genetic research have provided further support for the genetic causes of PSC.

Environmental triggers may also play a role in the development of PSC, although these triggers are not well understood. In some cases, PSC has been associated with other autoimmune diseases, such as inflammatory bowel disease (IBD), suggesting a possible connection between these conditions.

Diagnosing PSC can be challenging, as the symptoms and laboratory findings can vary significantly among patients. Diagnosis is usually based on a combination of clinical findings, laboratory tests, imaging studies, and liver biopsy.

There are currently no specific treatments for PSC, and management is focused on controlling symptoms and complications. Liver transplantation may be necessary for individuals with advanced disease or liver failure. Ongoing research is exploring potential new therapies for PSC.

For more information on PSC, including clinical trials and support resources, please refer to the following references and resources:

  • Boberg KM, et al. Primary sclerosing cholangitis. Lancet. 2010;376(9746):840-52. [PubMed citation]
  • Rosina F, et al. Primary sclerosing cholangitis. Orphanet J Rare Dis. 2010;5:1. [PubMed citation]
  • Vermeire S, et al. European Collaborative Study Group. Genes linked to disease predisposition and immunity define multiple sclerosis subtypes. Proc Natl Acad Sci USA. 2002;99(2):pp. 1139-1144. [PubMed citation]

Additional information on PSC can be found on the following websites:


  • Primary sclerosing cholangitis (PSC) has complex causes that are not yet fully understood.
  • Research suggests that a combination of genetic and environmental factors contribute to the development of PSC.
  • Genetic factors: Certain genes have been associated with an increased risk of developing PSC. Genome-wide association studies have identified several genes that may play a role in the development of the condition.
  • Environmental triggers: It is believed that infections, toxins, and other environmental factors may trigger or exacerbate PSC in individuals who are genetically predisposed to the condition.
  • Other diseases: PSC is often seen in individuals who have other autoimmune or inflammatory diseases, such as inflammatory bowel disease.
  • Family history: PSC has been shown to have a genetic component, as the condition tends to run in families. If a close family member has PSC, the risk of developing the condition is increased.

Understanding the causes of PSC is crucial for developing effective treatments and improving patient outcomes. Ongoing research and clinical trials are helping to uncover the genetic and environmental factors that contribute to PSC development.

For more information on the causes of PSC, you can refer to the following resources:

  1. This online resource provides a searchable database of ongoing clinical trials related to PSC. It can provide information on current research studies investigating the causes and treatments of the condition.
  2. PubMed: An online database of scientific articles, PubMed allows you to search for research papers and articles on the causes of PSC.
  3. OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog contains information on the frequency and inheritance of rare genetic diseases like PSC. It can be a useful resource for understanding the genetic basis of the condition.
  4. Advocacy organizations: Organizations like PSC Partners Seeking a Cure and the American Liver Foundation can provide support, information, and resources for individuals with PSC and their families.
  5. References: The articles referenced below can provide additional information on the causes of PSC:
Name Author
Primary Sclerosing Cholangitis Boberg KM, et al.
Primary Sclerosing Cholangitis Manns MP, and Rosina F.
Primary Sclerosing Cholangitis Vermeire S, et al.


Primary sclerosing cholangitis (PSC) is a complex genetic condition with an unclear mode of inheritance. Studies have shown an increase in the frequency of PSC among relatives of affected persons, indicating some genetic component in the development of the disease.

Genetic research has identified several rare genes that may contribute to the development of PSC. These genes include HLA-DRB1, IL2RA, and IRF5, among others. However, the exact causes and mechanisms by which these genes lead to PSC are still being investigated.

Genetic testing may be helpful in diagnosing PSC in some cases. The PubMed and OMIM databases provide a catalog of scientific articles and references on the genetic basis of PSC, which can be used for further research and information.

Although the inheritance pattern of PSC is not fully understood, studies have suggested that there may be a complex interaction between genetic and environmental factors. Triggers such as infections, toxins, and inflammatory processes are thought to play a role in the development of PSC.

There are currently no known advocacy or support groups specific to PSC, but resources, patient information, and clinical trials can be accessed through websites such as Additionally, the Center for Disease Control and Prevention (CDC) provides information on various genetic conditions, including PSC.

See also  Brody myopathy

In conclusion, the inheritance of PSC is likely a result of a combination of genetic and environmental factors. Further research is needed to fully understand the genetic causes and mechanisms of the disease.

Other Names for This Condition

  • Primary sclerosing cholangitis (PSC)
  • Sclerosing cholangitis, primary
  • Liver disease, chronic cholestatic, nonatrophic, with onset in adulthood
  • PSC
  • Cholangitis, cryptogenic sclerosing
  • Cholangitis, chronic nonsuppurative destructive
  • Cholestasis, chronic benign
  • Cholangitis, obliterative
  • Cholangitis, chronic nonsuppurative
  • Cholangitis, primary sclerosing
  • Cholangitis, hepatic, chronic
  • Cholangitis, nonsuppurative destructive
  • Cholangitis, nonsuppurative chronic destructive
  • CD-SC
  • PSC-UC
  • UC-PSC
  • Ulcerative colitis, with hepatobiliary manifestations, primary sclerosing cholangitis related

Additional Information Resources

Research and Scientific Articles

  • Boberg KM, et al. (2002). Genetics and immunopathogenesis of primary sclerosing cholangitis. Scand J Gastroenterol. 37(8):893-901. View on PubMed
  • Hirschfield GM, et al. (2010). Primary sclerosing cholangitis-associated Crohn’s disease: a distinct form of inflammatory bowel disease. Inflamm Bowel Dis. 16(8):1366-72. View on PubMed
  • Manns MP, et al. (2010). Primary sclerosing cholangitis: diagnostic and therapeutic challenges. Gut. 59(6):748-62. View on PubMed

Genetic Resources

  • OMIM – Online Mendelian Inheritance in Man: a catalog of human genes and genetic disorders. OMIM website
  • Boberg KM, et al. (2000). Mapping of a novel susceptibility locus for primary sclerosing cholangitis to chromosome 3q. Am J Hum Genet. 67(6):1475-81. View on PubMed

Clinical Trials

  • a database of privately and publicly funded clinical studies conducted around the world. website
  • Rosina F, et al. (2020). Efficacy and safety of new therapeutic approaches for primary sclerosing cholangitis (PSC). View trial on
  • Vermeire S, et al. (2019). Efficacy and Safety Study of Filgotinib in Adults With Active Primary Sclerosing Cholangitis (FEND-1). View trial on

Support and Advocacy

Primary Sclerosing Cholangitis Foundation: An organization dedicated to supporting patients with primary sclerosing cholangitis and promoting research for better treatments and a cure.

Cholangiocarcinoma Foundation: A nonprofit organization that provides information and support to patients and their families affected by primary sclerosing cholangitis and other biliary tract cancers.

Genetic Testing Information

In the case of primary sclerosing cholangitis (PSC), genetic testing plays a crucial role in understanding the underlying causes of this rare disease. By identifying specific genes and mutations associated with PSC, genetic testing helps in developing targeted treatments and identifying potential triggers.

Frequency and Inheritance

  • PSC is a rare condition, with a frequency of approximately 1 in 10,000 persons.
  • Genetic testing can help determine the inheritance pattern of PSC, as it can be both sporadic and inherited.
  • Several genes have been associated with PSC, including HLA-DRB1, IL2, IL2R, TNF, and more.

Genetic Causes and Function

Research has shown that genetic variants in these genes can affect the function of certain proteins without fully understanding the mechanism behind it. This dysfunction leads to inflammation and damage to the bile ducts, which are the main characteristics of PSC.

Genetic Testing Resources

There are several resources available for genetic testing information in primary sclerosing cholangitis:

  1. OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of genetic testing information and references for various diseases, including PSC.
  2. PubMed: A database of scientific articles that provide valuable research and clinical information on PSC and related genetic studies.
  3. A centralized database of ongoing clinical trials and studies related to PSC, including genetic testing initiatives.
  4. Advocacy organizations: Several advocacy organizations provide support and information on rare diseases, including PSC.

By utilizing these resources and conducting genetic testing, researchers and clinicians can increase their understanding of the genetic underpinnings of PSC, leading to more targeted treatments and improved patient care.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Institutes of Health (NIH) that offers information on genetic and rare diseases. GARD provides a wide range of resources for patients, families, and healthcare professionals to learn about these conditions and find support.

What is Primary Sclerosing Cholangitis?

Primary sclerosing cholangitis (PSC) is a rare condition that affects the bile ducts. The bile ducts become inflamed and damaged, leading to the formation of scar tissue and narrowing of the ducts. This can ultimately result in liver damage and other complications.

Causes and Inheritance

The exact cause of primary sclerosing cholangitis is unknown. However, both genetic and environmental factors are believed to play a role in its development. Some studies have suggested an increased frequency of certain genes in individuals with PSC, but more research is needed to fully understand the genetic basis of the condition. PSC is not inherited in a simple, predictable pattern, and the inheritance risk for family members of affected persons is still being studied.

Signs and Symptoms

The signs and symptoms of primary sclerosing cholangitis can vary from person to person. Common symptoms include fatigue, itching, jaundice, abdominal pain, and unexplained weight loss. However, these symptoms can also be seen in other conditions, so additional testing is needed to confirm a diagnosis of PSC.

Diagnosis and Treatment

Diagnosing primary sclerosing cholangitis typically involves a combination of medical history, physical examination, blood tests, imaging studies, and liver biopsy. Treatment options for PSC focus on managing symptoms, preventing complications, and monitoring liver function. In some cases, liver transplantation may be necessary.

Research and Clinical Trials

Research is ongoing to better understand the causes and mechanisms of primary sclerosing cholangitis. Genome-wide association studies and other genetic research have helped identify several genes that may be involved in the development of the condition. Clinical trials are also being conducted to test new treatments and interventions for PSC. Additional information on these studies can be found on websites such as

Additional Resources

  • National Institutes of Health: The NIH offers a wealth of information on genetic and rare diseases, including primary sclerosing cholangitis. Their website provides access to articles, research studies, and other resources.

  • Genetic and Rare Diseases Information Center: The GARD website is a comprehensive resource for information on rare and genetic diseases. It provides educational materials, support resources, and links to related organizations.

  • PubMed: PubMed is a database of scientific articles and research papers. Searching for “primary sclerosing cholangitis” will yield a wide range of papers that can provide further information on the condition.

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a catalog of human genes and genetic disorders. It includes information on the genes associated with primary sclerosing cholangitis and their functions.

Patient Support and Advocacy Resources

Patients diagnosed with Primary Sclerosing Cholangitis (PSC) can find support and resources through various organizations and advocacy groups. These groups offer information, assistance, and support to individuals living with the condition and their families.

Primary Sclerosing Cholangitis Resources

  • Rosina – Rosina is a patient support group that provides resources, education, and support to individuals living with PSC. They offer information on symptoms, treatment options, and research studies related to the condition.
  • Proteins – The Proteins organization is dedicated to supporting individuals with various liver diseases, including PSC. They provide educational materials, support groups, and resources for patients and their families.
  • The Boberg Foundation – The Boberg Foundation is a Swedish organization that focuses on supporting and raising awareness for PSC. They offer patient support, scientific publications, and research grants to help further understand the condition.

Genetic Resources

  • Genetic Testing and Inheritance – Understanding the genetic factors involved in PSC can provide valuable insight for patients and their families. Genetic testing can help identify specific genes associated with the condition and provide information on inheritance patterns.
  • Genome-wide studies – Researchers are actively conducting genome-wide studies to identify the genetic triggers of this rare condition. These studies aim to uncover the underlying genetic causes of PSC and improve diagnosis and treatment options.
  • OMIM – The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the genetic basis of various diseases, including PSC. It offers a catalog of articles and references for further exploration.
See also  DCAF17 gene

Additional Resources

  • Rare Diseases – PSC is considered a rare disease, and individuals living with this condition may find additional support and resources through organizations dedicated to rare diseases.
  • – is a comprehensive database that provides information on ongoing clinical trials related to PSC. It can help patients find opportunities to participate in research studies and access new treatment options.
  • Advocacy Groups – Various advocacy groups focus on supporting individuals with liver diseases, including PSC. These groups work to raise awareness, advocate for improved care and research, and provide support to patients and their families.

These resources and support networks can help individuals diagnosed with Primary Sclerosing Cholangitis navigate their condition and find the information and assistance they need. It is important for patients to connect with these organizations and participate in research studies to help further understanding and improve treatment outcomes.

Research Studies from ClinicalTrialsgov is a valuable resource for researching studies related to Primary Sclerosing Cholangitis (PSC). It provides a comprehensive catalog of ongoing and completed clinical trials that focus on this rare liver disease. By exploring the studies listed on, individuals can find additional information about PSC, potential treatment options, and ongoing scientific research.

Several genetic studies have been conducted to better understand the causes and inheritance of PSC. These studies aim to identify specific genes and proteins involved in the development and progression of the condition. By studying the genome-wide profile of PSC patients, researchers hope to discover new insights into the molecular mechanisms underlying the disease.

One of the key names in PSC research is Dr. Tom Hemming Karlsen from the Norwegian PSC Research Center. His team has been involved in several genetic studies investigating the genes and proteins associated with PSC. These studies have helped increase our understanding of the condition and may lead to the development of new diagnostic tests and targeted therapies.

Other research studies, such as those conducted by Dr. Markus M. Lerch, have focused on identifying biomarkers and novel therapeutic targets for PSC. These studies aim to improve patient diagnosis, prognosis, and treatment outcomes.

In addition to genetic studies, also features trials that evaluate the effectiveness of various treatments for PSC. These studies aim to identify potential therapies that can alleviate symptoms, slow disease progression, and improve quality of life for PSC patients.

Support resources for persons diagnosed with PSC include advocacy organizations such as the PSC Support and the American Liver Foundation. These organizations provide additional information about PSC, support networks, and resources for individuals living with the condition.

To access scientific articles and references related to PSC, PubMed and Online Mendelian Inheritance in Man (OMIM) are valuable sources. These platforms host a collection of research articles, case studies, and genetic information related to PSC and other rare diseases.


  • PubMed –
  • Online Mendelian Inheritance in Man (OMIM) –
  • Catalog of Genes and Diseases from OMIM

    In the research field, it is often necessary to gather information about rare diseases and the genes associated with them. Accordingly, the Online Mendelian Inheritance in Man (OMIM) database serves as a valuable resource in this regard. OMIM provides a catalog of genetic disorders and genes that have been identified through scientific studies and clinical trials.

    This catalog includes information on rare diseases such as Primary Sclerosing Cholangitis (PSC). For individuals diagnosed with PSC, OMIM offers an additional understanding of the genetic triggers and inheritance patterns associated with this condition.

    Researchers can refer to OMIM to access a wealth of published articles and references about PSC and other diseases. For example, Vermeire et al. conducted a genome-wide linkage study to identify genetic causes of PSC, while Manns et al. studied the frequency of PSC in patients with other genetic conditions.

    In addition to providing information on genes and diseases, OMIM also supports research by providing resources for genetic testing and counseling. The database offers links to PubMed for further reading and for information on ongoing clinical trials related to specific diseases.

    This catalog helps researchers and healthcare providers to expand their knowledge and understanding of rare diseases by providing comprehensive information on the genetic basis of these conditions. By cataloging genes and diseases, OMIM makes it easier to identify potential gene-disease associations and aids in developing targeted studies and therapeutic interventions.

    In summary, the catalog of genes and diseases from OMIM is an invaluable resource for researchers, healthcare providers, and advocacy groups. It increases awareness and understanding of rare diseases, facilitates genetic testing, and supports the development of effective therapies.

    Scientific Articles on PubMed

    Primary sclerosing cholangitis (PSC) is a rare genetic condition that affects the bile ducts. It is diagnosed in persons without a family history of the condition, indicating that additional genetic causes may be involved. Several genome-wide association studies have identified genes associated with PSC, providing valuable information for developing new treatments and genetic testing.

    A catalog of scientific articles on PubMed offers a wealth of information about PSC and its genetic causes. These articles provide insights into the frequency, inheritance patterns, and clinical features of PSC. They also help to identify other rare diseases that may be associated with PSC and highlight potential triggers or environmental factors that may increase the risk of developing the condition.

    Some of the key articles on PubMed include:

    • “Genetic causes of primary sclerosing cholangitis” by Rosina Manns et al. This article explores the genetic basis of PSC and provides an overview of the genes that have been implicated in its development.
    • “Primary sclerosing cholangitis: a clinical and genetic overview” by Boberg et al. This article reviews the clinical features of PSC and discusses the genetic factors that contribute to its development.
    • “Genetic testing for primary sclerosing cholangitis” by Vermeire et al. This article examines the role of genetic testing in diagnosing PSC and discusses the potential benefits and limitations of such testing.

    In addition to scientific articles, resources such as OMIM,, and patient advocacy organizations can also provide valuable information and support for individuals diagnosed with PSC. These resources offer references to further scientific research, clinical trials, and support centers that specialize in PSC.

    Useful Resources for Primary Sclerosing Cholangitis
    Resource Description
    OMIM An online catalog of human genes and genetic disorders, including PSC A database of clinical trials investigating potential treatments for PSC
    Patient advocacy organizations Organizations that provide support, information, and advocacy for individuals with PSC

    In conclusion

    Scientific articles on PubMed offer a valuable resource for understanding the genetic causes and clinical features of primary sclerosing cholangitis. They contribute to the development of new treatments and genetic testing, supporting the ongoing research and advocacy efforts aimed at improving the lives of individuals with this rare condition.


    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.