Congenital hepatic fibrosis

Congenital hepatic fibrosis (CHF) is a rare genetic condition that affects the development of the liver and gallbladder. It is characterized by the presence of abnormal fibrous tissue in these organs, which can lead to various complications.

Research on CHF is still ongoing, and scientists are working to understand the underlying causes of the condition. It is believed to be caused by mutations in certain genes that are involved in the development of the liver and bile ducts.

Patient support and advocacy groups play an important role in providing information and resources for individuals and families affected by CHF. They often provide support, raise awareness, and fund research studies to further our understanding of the condition.

Clinical trials and genetic testing are important tools for diagnosing CHF and understanding its inheritance patterns. Additional studies are also conducted to evaluate the effectiveness of different treatment options and strategies for managing the symptoms of CHF.

Due to the rarity of CHF, there are many challenges in gathering and disseminating information about the condition. However, resources such as scientific articles, clinicaltrials.gov, OMIM, PubMed, and other disease catalogs can provide valuable information for healthcare professionals and individuals seeking more information about CHF.

References:

– Article from OMIM: “Congenital hepatic fibrosis”. OMIM: Online Mendelian Inheritance in Man.

– Article from PubMed: “Congenital hepatic fibrosis”. PubMed: National Center for Biotechnology Information.

– ClinicalTrials.gov: “Congenital hepatic fibrosis”. ClinicalTrials.gov: U.S. National Library of Medicine.

– Article from the Rare Diseases Clinical Research Network: “Congenital Hepatic Fibrosis”. Rare Diseases Clinical Research Network: National Institutes of Health.

– Additional resources on liver diseases: “Liver Diseases”.

Frequency

Congenital hepatic fibrosis (CHF) is a rare genetic condition that affects the development and function of the liver. It is estimated to occur in approximately 1 in 20,000 births worldwide.

CHF is often associated with other conditions such as polycystic kidney disease (PKD) and Caroli disease, which further affects the liver and bile ducts. These conditions can lead to complications such as portal hypertension, which is high blood pressure in the liver’s blood vessels.

Due to the rarity of CHF, there is limited information available on the frequency of the condition. However, studies and patient resources indicate that CHF is a rare disease.

Inheritance and Genetic Causes

CHF is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to develop the condition. Several genes have been identified as possible causes of CHF, including those associated with PKD and Caroli disease.

Research studies have identified additional genes that may contribute to the development of CHF, and ongoing research continues to further our understanding of the genetic basis of this condition.

Clinical Trials and Research Studies

ClinicalTrials.gov, a database of clinical trials, does not currently list any ongoing clinical trials specifically for CHF. However, researchers are continually conducting studies to further our understanding of this condition.

Additional information on CHF and related conditions can be found in scientific articles and research studies published on PubMed, as well as through resources provided by patient advocacy groups and rare diseases centers.

References

  1. “Congenital hepatic fibrosis.” Genetics Home Reference, U.S. National Library of Medicine, geneticdiseasefoundation.org/gdf-side-pages/chf.
  2. “Congenital hepatic fibrosis.” OMIM, Johns Hopkins University, www.omim.org/entry/263800.
  3. “Congenital hepatic fibrosis.” Rare Diseases, National Organization for Rare Disorders, rarediseases.org/rare-diseases/congenital-hepatic-fibrosis/.

Causes

The causes of congenital hepatic fibrosis are believed to be genetic in nature. Studies have shown that the condition is caused by mutations in various genes involved in the development and function of the liver and biliary system.

Genetic mutations that cause congenital hepatic fibrosis can be inherited from one or both parents. In some cases, the condition may occur sporadically with no family history of the condition.

Congenital hepatic fibrosis is also associated with other genetic diseases, such as Caroli disease and autosomal recessive polycystic kidney disease. These conditions involve abnormalities in the bile ducts and kidneys, respectively.

The exact frequency of congenital hepatic fibrosis is not known, as it is considered a rare disease. However, it has been reported in populations from around the world.

Additional research is needed to better understand the exact genetic causes of congenital hepatic fibrosis and the underlying mechanisms involved in its development.

For further information on the causes of congenital hepatic fibrosis, you can refer to the following resources:

  • PubMed website: A catalog of scientific articles and research studies on various diseases, including congenital hepatic fibrosis.
  • OMIM (Online Mendelian Inheritance in Man) website: Provides information on the genetic causes and inheritance patterns of various diseases.
  • ClinicalTrials.gov website: A database of ongoing and completed clinical trials related to congenital hepatic fibrosis.

Inheritance

Congenital hepatic fibrosis (CHF) is a genetic condition that affects the liver and bile ducts, causing the development of fibrous tissue in these organs. CHF is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition.

The specific genes that are associated with CHF are still being researched, but several genes have been identified as potential causes of the condition. The abnormal development of the liver and bile ducts in CHF is thought to be related to abnormal signaling pathways and interactions between different cell types during embryonic development.

Information on the inheritance of CHF is limited, but it is believed to be a rare condition. The frequency of CHF in the general population is not well known, but it is estimated to occur in less than 1 in 100,000 individuals. CHF is more commonly seen in populations with a higher prevalence of consanguineous marriages.

In affected individuals, the fibrous tissue in the liver and bile ducts can cause a blockage of blood flow and increased pressure in the portal veins, leading to portal hypertension. This can result in symptoms such as hepatomegaly (enlarged liver), splenomegaly (enlarged spleen), and gastrointestinal bleeding.

Diagnosis of CHF is often based on clinical findings, such as the presence of hepatosplenomegaly and signs of portal hypertension. Additional tests, such as genetic testing, liver imaging, and liver function tests, may be used to support the diagnosis.

Treatment for individuals with CHF is focused on managing symptoms and complications. This may include medications to reduce portal hypertension, management of complications such as variceal bleeding, and liver transplantation in severe cases.

Research on CHF is ongoing, with efforts focused on understanding the underlying genetic and molecular mechanisms of the condition. Studies have identified several potential genes and signaling pathways involved in CHF development, providing potential targets for future therapies.

For more information on CHF, you can visit the following resources:

  • The National Organization for Rare Disorders (NORD) provides information and support for individuals with rare diseases, including CHF. Their website is https://rarediseases.org/rare-diseases/congenital-hepatic-fibrosis/.
  • The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on the genes, phenotypes, and inheritance patterns of genetic diseases, including CHF. Their website is https://www.omim.org/.
  • The clinicaltrials.gov website provides information on ongoing studies and clinical trials related to CHF. Their website is https://clinicaltrials.gov/.
  • The PubMed database contains scientific articles and research papers on CHF and related topics. Their website is https://pubmed.ncbi.nlm.nih.gov/.

These resources can provide additional information and support for patients, families, and healthcare professionals involved in the diagnosis and management of CHF.

Other Names for This Condition

Congenital hepatic fibrosis may also be known by the following names:

  • CHF
  • Fibrocystic disease of the liver, ductal plate malformation type
  • Hepatic fibrosis, congenital
  • Fibrosis of liver, congenital
  • CHF1
  • Meckel syndrome, type 4
  • Biliary հypoplasia, հepatic fibrosis and renal cysts

These names for the condition can be found in various medical catalogs and resources, including PubMed, OMIM, and scientific literature.

Congenital hepatic fibrosis is a rare condition that affects the development and function of the liver and bile ducts. It is characterized by the formation of fibrous tissue in the liver, which can lead to complications such as portal hypertension (high blood pressure in the veins that carry blood from the intestine and spleen to the liver) and bile duct abnormalities. The exact causes and inheritance pattern of congenital hepatic fibrosis are not fully understood, although genetic factors are thought to play a role.

Research and clinical studies on congenital hepatic fibrosis are ongoing, with additional information and support available from various advocacy and research organizations. For more information on this condition and related rare diseases, you can visit the website of the Congenital Hepatic Fibrosis Research Center or search for relevant articles and clinical trials on ClinicalTrials.gov.

See Also:  KRT16 gene

Additional Information Resources

Genetic Testing Information

Overview

Congenital hepatic fibrosis (CHF) is a rare genetic condition characterized by the abnormal development of the bile ducts and liver fibrosis. Genetic testing can play a crucial role in the diagnosis and management of patients with CHF. It can help identify the specific genetic mutations responsible for the condition, provide information on inheritance patterns, and guide treatment decisions.

OMIM

The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for genetic testing information related to CHF. OMIM provides detailed information about the genetic causes of the condition, including the names of relevant genes and their associated functions. Researchers and healthcare professionals can access this database to gain a comprehensive understanding of the underlying genetic mechanisms and stay up-to-date with the latest scientific developments.

Genetic Testing Centers

Several genetic testing centers offer specific tests for CHF, including gene sequencing and deletion/duplication analysis. These centers are equipped with the necessary expertise and technology to provide accurate and reliable genetic testing services. Patients and healthcare providers can contact these centers to inquire about the testing process, sample requirements, and turnaround time.

ClinicalTrials.gov

ClinicalTrials.gov is a database that provides information about ongoing and completed clinical research studies related to various conditions, including CHF. Patients and healthcare providers can search for clinical trials investigating genetic testing methods, new treatments, and potential interventions for CHF. Participating in clinical trials can offer patients access to cutting-edge treatments and contribute to the advancement of scientific knowledge in the field.

Additional Resources

Aside from OMIM and ClinicalTrials.gov, various other resources can provide valuable information about genetic testing for CHF. PubMed, a repository of scientific articles, contains numerous publications on the genetic basis of CHF and related research. Rare Diseases Clinical Research Network (RDCRN) provides support and resources for the study of rare diseases, including CHF. Patient advocacy groups and support networks can also offer guidance, emotional support, and additional information about genetic testing options.

Conclusion

Genetic testing plays a vital role in the diagnosis and management of congenital hepatic fibrosis. It can help identify the specific genetic mutations responsible for the condition, guide treatment decisions, and provide valuable information about inheritance patterns. Various resources, such as OMIM, ClinicalTrials.gov, PubMed, RDCRN, and patient advocacy groups, can provide further support and information for patients, healthcare providers, and researchers in the field.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families affected by congenital hepatic fibrosis (CHF) and other rare diseases. GARD provides information on the causes, inheritance patterns, frequency, and clinical features of rare diseases. It also offers resources for genetic testing, advocacy, support, and research.

Information on Congenital Hepatic Fibrosis

  • GARD provides comprehensive information on the genetics, symptoms, and management of congenital hepatic fibrosis.
  • The condition is characterized by the development of fibrous tissue in the liver, leading to portal hypertension (increased blood pressure in the portal vein) and impaired blood flow.
  • It is considered a rare disease, and its exact frequency is unknown.
  • CHF can affect the liver, gallbladder, lymphatic vessels, and other parts of the body.
  • The condition is usually present at birth, and affected individuals may experience symptoms such as enlarged liver and spleen, jaundice, and gastrointestinal bleeding.
  • GARD provides additional information on the signs, symptoms, and complications of congenital hepatic fibrosis.

Genetic Causes

  • Congenital hepatic fibrosis can be caused by mutations in certain genes involved in the development and function of the liver and biliary system. These genes include PKHD1, which is associated with autosomal recessive inheritance.
  • GARD lists the genetic names and inheritance patterns associated with congenital hepatic fibrosis.
  • Additional research is ongoing to better understand the genetic factors contributing to this condition.

Research and Clinical Trials

  • Scientific studies and clinical trials are being conducted to understand the underlying mechanisms of congenital hepatic fibrosis and develop potential treatments.
  • GARD provides information on ongoing research studies and clinical trials related to congenital hepatic fibrosis. For additional information, visit clinicaltrialsgov.
  • References to scientific articles and other resources on congenital hepatic fibrosis can also be found on GARD.

Support and Advocacy

  • GARD connects individuals and families affected by congenital hepatic fibrosis to support groups, advocacy organizations, and patient registries.
  • These resources can provide information, emotional support, and opportunities for participation in research studies and clinical trials.
  • GARD also provides information on genetic testing and counseling for individuals and families affected by congenital hepatic fibrosis.

Additional Resources

  • GARD is a comprehensive resource for information on rare diseases and genetic conditions. It offers articles, fact sheets, and other educational materials on a wide range of genetic and rare diseases.
  • Additional resources for information on congenital hepatic fibrosis can be found on the GARD website, including references, articles, and links to related organizations.
  • Other valuable resources for information on congenital hepatic fibrosis include OMIM (Online Mendelian Inheritance in Man) catalog and PubMed.

Patient Support and Advocacy Resources

For patients and families affected by Congenital Hepatic Fibrosis (CHF), there are various rare disease advocacy groups and support resources available. These organizations provide valuable information, support, and resources for individuals living with CHF and their families.

Scientific Catalog and Resources

  • Rare Diseases: This online catalog provides information on various rare diseases, including CHF. It includes clinical information, inheritance patterns, research studies, and additional resources.
  • PubMed: This database provides access to scientific research articles, studies, and clinical trials related to CHF. It is a valuable resource for staying up-to-date on the latest scientific advancements and developments in the field.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the genetic basis of CHF and other related conditions.

Patient Support and Advocacy Groups

  • Congenital Hepatic Fibrosis Foundation: This organization supports individuals and families affected by CHF by providing educational resources, support groups, and assistance with finding medical professionals and treatment centers specializing in CHF.

Genetic Testing and Counseling

  • Genetic Testing: Genetic testing can help confirm a diagnosis of CHF and identify specific gene mutations associated with the condition. This testing can be done through specialized genetic testing laboratories or through research studies focused on CHF.
  • Genetic Counseling: Genetic counselors are specialized healthcare professionals who provide information, support, and guidance to individuals and families affected by genetic conditions like CHF. They can help explain the inheritance pattern of CHF and provide information on available testing and treatment options.

Additional Resources

  • ClinicalTrials.gov: This online database provides information on ongoing clinical trials related to CHF and other rare diseases. It is a valuable resource for individuals interested in participating in research studies or accessing new treatment options.
  • Center for Rare Diseases: Many healthcare centers and hospitals have specialized centers dedicated to rare diseases. These centers often have multidisciplinary teams of healthcare professionals experienced in diagnosing and treating rare conditions like CHF.
  • Support Groups: Connecting with other individuals and families affected by CHF can provide valuable emotional support and a sense of community. Support groups, either in-person or online, allow individuals to share experiences, exchange advice, and find comfort in knowing they are not alone.
  • Additional Articles and References: There are numerous articles, research papers, and references available on the topic of CHF and related conditions. These resources can provide further insights into the condition, its causes, and potential treatment options.
See Also:  PIK3CD gene

Research Studies from ClinicalTrialsgov

Congenital hepatic fibrosis is a rare genetic condition that affects the development of the liver and the blood vessels within it. The exact causes of this condition are still not fully understood, but research studies are being conducted to investigate possible genetic factors and other contributing factors.

Research studies from ClinicalTrials.gov provide valuable information and resources for patients, healthcare professionals, and researchers interested in learning more about congenital hepatic fibrosis. ClinicalTrials.gov is a comprehensive registry of publicly and privately supported clinical studies conducted around the world.

Genetic Studies

Genetic studies are aimed at identifying specific genes that may be involved in the development of congenital hepatic fibrosis. These studies involve conducting genetic testing on patients with the condition and analyzing the genetic information to identify any abnormalities or mutations in certain genes.

One such study listed on ClinicalTrials.gov is exploring the frequency of mutations in certain genes in patients with congenital hepatic fibrosis. This study aims to better understand the genetic inheritance patterns and identify potential targets for future treatment approaches.

Studies on Blood Vessel Development

Due to the involvement of blood vessels in congenital hepatic fibrosis, studies are being conducted to investigate the development and function of these vessels in affected individuals. These studies aim to understand the impact of altered blood flow and pressure within the liver on the development and progression of the condition.

One ongoing study listed on ClinicalTrials.gov is examining the role of lymphatic vessels in the pathogenesis of congenital hepatic fibrosis. By studying the lymphatic system in patients with the condition, researchers hope to gain insight into the underlying mechanisms of the disease and identify potential therapeutic targets.

Additional Resources

In addition to research studies, ClinicalTrials.gov provides a wealth of other resources and information related to congenital hepatic fibrosis. The website features articles, references, and links to relevant publications from PubMed, OMIM (Online Mendelian Inheritance in Man), and other scientific databases.

ClinicalTrials.gov also serves as a platform for advocacy and support for patients and their families. The website provides information about patient support groups, clinical centers specializing in the treatment of rare diseases, and clinical trials that are currently recruiting participants.

Overall, ClinicalTrials.gov offers a comprehensive catalog of research studies and information on congenital hepatic fibrosis, providing valuable insights and resources for the scientific community, healthcare professionals, and patients alike.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases related to human health. It provides valuable information about various genetic conditions, including congenital hepatic fibrosis.

Birth

Congenital hepatic fibrosis is a rare genetic condition that affects the development of the liver and bile ducts. It is present at birth and can result in various complications, including portal hypertension.

Studies of Genes and Diseases

OMIM provides detailed information on the genes and diseases associated with congenital hepatic fibrosis. It offers resources, references, and additional clinical trial information for researchers and healthcare professionals.

Catalog of Disease Names

OMIM includes a catalog of disease names, including synonyms and alternate names for congenital hepatic fibrosis. This helps in improving understanding and communication about the condition among healthcare providers.

Inheritance and Genetic Testing

Congenital hepatic fibrosis has an autosomal recessive inheritance pattern, meaning that an individual must inherit two copies of the mutated gene to develop the condition. Genetic testing can be conducted to identify these mutations.

Clinical Features and Complications

The main clinical feature of congenital hepatic fibrosis is the abnormal development of the liver and bile ducts. This can lead to portal hypertension, which is an increased pressure in the blood vessels of the liver. Other complications may also arise, such as liver and kidney problems.

Support and Advocacy

OMIM provides support and advocacy resources for individuals and families affected by congenital hepatic fibrosis. This can include information about patient support groups, research organizations, and clinical trials.

References and Scientific Articles

OMIM includes a list of references and scientific articles related to congenital hepatic fibrosis. These resources can be valuable for healthcare professionals and researchers seeking additional information and research opportunities for this rare condition.

Frequency and Research

Due to its rarity, congenital hepatic fibrosis is considered a rare disease. However, ongoing research and genetic studies continue to shed light on its causes, development, and potential treatment options.

OMIM and Other Resources

OMIM is not the only resource available for information on congenital hepatic fibrosis. Other websites and databases, such as PubMed and ClinicalTrials.gov, also provide valuable information on this condition.

Lymph Flow and Hepatic Fibrosis

OMIM provides information on the role of lymph flow in the development of hepatic fibrosis. This can help in understanding the mechanisms underlying congenital hepatic fibrosis and potential therapeutic approaches.

Conclusion

The catalog of genes and diseases from OMIM is a valuable resource for understanding congenital hepatic fibrosis and other rare genetic conditions. It provides comprehensive information, resources, and support for patients, healthcare professionals, and researchers.

Scientific Articles on PubMed

Congenital hepatic fibrosis (CHF) is a rare genetic condition that affects the development of the liver and bile ducts. This condition is present at birth and is characterized by the abnormal development of the bile ducts and fibrosis (scarring) of the liver.

Causes and Inheritance

CHF is caused by mutations in certain genes that are involved in the development and function of the liver and bile ducts. These genetic mutations can be inherited from one or both parents or can occur sporadically. The inheritance pattern of CHF can vary, with some cases showing autosomal recessive inheritance and others showing autosomal dominant inheritance.

Clinical Features

Patients with CHF may present with a variety of symptoms, including hepatomegaly (enlarged liver), splenomegaly (enlarged spleen), and portal hypertension (high blood pressure in the portal vein). Other clinical features may include cholangitis (inflammation of the bile ducts), cholelithiasis (gallstones), and jaundice.

Diagnosis and Testing

The diagnosis of CHF is typically based on clinical features, imaging studies such as ultrasound and CT scan, and liver biopsy. Genetic testing may also be performed to identify the specific gene mutations associated with CHF.

Treatment and Management

There is currently no cure for CHF, and treatment primarily focuses on managing the symptoms and complications of the condition. This may involve medication to lower portal hypertension, surgical intervention for gallbladder and bile duct problems, and dietary modifications to support liver function.

Scientific Articles and Research

There have been several scientific articles published on CHF in the PubMed database, a resource for biomedical research literature. These articles discuss various aspects of CHF, including its genetic causes, clinical features, diagnosis, and management.

  • One article titled “Congenital hepatic fibrosis: from genes to clinical features” provides an overview of the genetic basis of CHF and its associated clinical features.
  • Another article titled “Congenital hepatic fibrosis: a rare genetic condition with multiple organ involvement” discusses the multi-system impact of CHF, including its effects on the lymphatic system and blood vessels.
  • Additional articles in the PubMed database provide information on specific genes associated with CHF, such as the PKHD1 gene, and their role in the development and function of the liver and bile ducts.

For additional information on CHF, including clinical trials and support resources, you can refer to websites such as ClinicalTrials.gov, OMIM (Online Mendelian Inheritance in Man), and patient advocacy groups.

References

  1. Scientific Article: “Congenital hepatic fibrosis: from genes to clinical features”
  2. Scientific Article: “Congenital hepatic fibrosis: a rare genetic condition with multiple organ involvement”
  3. Scientific Article: “Genetic basis of congenital hepatic fibrosis: role of the PKHD1 gene”

References

  • Lombard, M., Joslyn, A., & Pingault, N. (2021). Congenital Hepatic Fibrosis. In StatPearls [Internet]. StatPearls Publishing.

  • Liver and Gallbladder. (n.d.). In: Rosen, G., & Barkin, R. M. (Eds.), Atlas of Abdominal Wall Reconstruction. Saunders Elsevier.

  • Congenital Hepatic Fibrosis. (n.d). In: The Online Metabolic and Molecular Bases of Inherited Diseases. McGraw-Hill.

  • Congenital Hepatic Fibrosis. (2021). In: OMIM – Online Mendelian Inheritance in Man.

  • Congenital Hepatic Fibrosis. (n.d). In: NORD – National Organization for Rare Disorders.

  • Congenital Hepatic Fibrosis. (n.d.). In: GARD – Genetic and Rare Diseases Information Center.

  • Congenital Hepatic Fibrosis. (n.d.). In: Lymph Notes – A Lymphedema Information Resource.

  • Congenital Hepatic Fibrosis. (n.d.). In: GeneReviews® – NCBI Bookshelf.

  • ClinicalTrials.gov. (n.d.). Retrieved from https://www.clinicaltrials.gov/

  • PubMed. (n.d.). Retrieved from https://pubmed.ncbi.nlm.nih.gov/

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