Hepatic veno-occlusive disease with immunodeficiency

Hepatic Veno-Occlusive Disease with Immunodeficiency (VODI) is a rare genetic condition that affects both the liver and the immune system. It is also known as Immunodeficiency with Hepatic Veno-Occlusive Disease and NEMO Deficiency Syndrome. This condition is inherited in an autosomal recessive manner, which means that both copies of the causative gene must be mutated for the disease to occur.

The main cause of VODI is mutations in the NEMO gene, also known as the IKBKG gene. This gene provides instructions for making the nuclear factor kappa B (NF-κB) Essential Modulator (NEMO) protein, which is critical for immune system function and the development and maintenance of blood vessels. Mutations in the NEMO gene disrupt the production or function of this protein, leading to the symptoms of VODI.

Individuals with VODI typically present with a range of symptoms including liver disease characterized by veno-occlusive lesions, immune deficiency, and susceptibility to infections. The severity and specific symptoms can vary widely between individuals. Additional symptoms may include growth delays, skeletal abnormalities, and other complications related to the liver and immune system dysfunction.

Diagnosis of VODI is based on the clinical presentation, characteristic features, and the results of genetic testing. Genetic testing can confirm the presence of mutations in the NEMO gene, which is necessary for a definitive diagnosis. Prenatal testing is available for families with a known mutation in the NEMO gene and can help determine whether a fetus is affected.

There is currently no specific treatment for VODI. Management involves supportive care and treatment of symptoms and complications as they arise. This may include immunoglobulin replacement therapy to boost the immune system, antiviral medications to prevent or treat infections, and liver transplantation in severe cases of liver disease.

Resources such as the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD) provide additional information and support for individuals and families affected by VODI. Scientific articles and references can also be found in databases such as PubMed and OMIM for further research on this rare condition.

Frequency

The frequency of Hepatic veno-occlusive disease with immunodeficiency (also known as Venoocclusive disease, with immunodeficiency) is currently unknown. It is considered a rare condition, making it difficult to determine its exact prevalence. There are only a few articles and scientific references available on this specific genetic disorder.

The OMIM (Online Mendelian Inheritance in Man) database is a valuable resource for gathering information about rare genetic diseases. It provides extensive information about genes, associated symptoms, inheritance patterns, and references to scientific articles. The OMIM entry for Hepatic veno-occlusive disease with immunodeficiency (OMIM #235550) contains additional information about the disease, genes associated with the condition, and references to scientific articles related to this topic.

PubMed, a resource that provides access to a vast collection of scientific articles, offers a way to access more information about the genetic causes, symptoms, and associated conditions of Hepatic veno-occlusive disease with immunodeficiency. By searching for relevant keywords such as Veno-occlusive disease, immunodeficiency, genes, and liver, researchers can find articles and studies that provide more in-depth information about this rare condition.

The Rare Diseases Advocacy and Support Center is another valuable resource for individuals and families affected by Hepatic veno-occlusive disease with immunodeficiency. They provide information, support, and advocacy for rare diseases, including access to genetic testing and resources for learning more about the condition.

In summary, Hepatic veno-occlusive disease with immunodeficiency is a rare genetic condition with limited available information. The frequency of the disease in the general population is currently unknown due to its rarity. Learn more about this condition and seek support from advocacy and support centers that focus on rare diseases.

Causes

Hepatic veno-occlusive disease with immunodeficiency (VODI) is a rare genetic condition that is caused by mutations in several genes. These genes are involved in the regulation of nuclear proteins that play a role in the development and functioning of the immune system.

The exact inheritance pattern of VODI is not well understood. However, researchers have identified mutations in several genes that are associated with the disease. These genes include SP110, AIRE, and UNC13D. Mutations in these genes can lead to a wide range of symptoms and complications, including liver dysfunction and immunodeficiency.

Scientific articles published on PubMed and information from the Online Mendelian Inheritance in Man (OMIM) database provide additional insight into the genetic causes of VODI. Individuals with VODI may have mutations in one or more of these genes, which can help to determine the underlying cause of the disease.

It is important to note that VODI is a rare condition, and more research is needed to fully understand its causes and inheritance patterns. However, the identification of specific genes associated with the disease has provided valuable information for genetic testing and counseling for individuals and families affected by VODI.

For individuals diagnosed with VODI, there are advocacy and support resources available to learn more about the disease, connect with other affected individuals and families, and access additional information and support. The Wong Center for Rare and Advocacy is one such resource that provides information and support for individuals with VODI and other rare diseases.

Understanding the genetic causes of VODI is an important step in making advancements in the diagnosis, treatment, and management of the disease. Further research and scientific studies are needed to fully understand the complex genetic mechanisms underlying VODI and its associated immunodeficiency symptoms.

Learn more about the gene associated with Hepatic veno-occlusive disease with immunodeficiency

Hepatic veno-occlusive disease with immunodeficiency (VODI) is a rare condition that affects the liver and immune system. It is caused by mutations in the SP110 gene, which provides instructions for making a protein called SP110 nuclear body protein. Individuals with VODI have mutations in both copies of the SP110 gene, leading to a loss of function of the SP110 protein.

Veno-occlusive diseases are a group of rare conditions characterized by the obstruction of veins, particularly those that carry blood from the liver (hepatic veins). In the case of VODI, this obstruction leads to the development of veno-occlusive disease in the liver.

Patients with VODI may experience a range of symptoms, including liver dysfunction, recurrent infections, and impaired immune responses. The severity of the symptoms can vary among affected individuals.

For more information about Hepatic veno-occlusive disease with immunodeficiency and the SP110 gene, several resources are available. The OMIM database provides detailed genetic and clinical information on rare diseases, including VODI and the associated genes. PubMed is another valuable resource for scientific articles on the topic, offering additional research and references.

The patient community can also find support and advocacy through organizations and centers dedicated to rare diseases and immunodeficiency. These organizations often provide helpful resources and articles to learn more about VODI and connect with others living with the condition.

Inheritance

The inheritance pattern of hepatic veno-occlusive disease with immunodeficiency is currently unknown. The disease is thought to have a genetic basis, but specific genes have yet to be identified. Genetic testing may be available at some medical centers to aid in diagnoses and to provide more information about the condition.

Support and advocacy organizations for individuals with rare diseases, such as hepatic veno-occlusive disease with immunodeficiency, can provide additional information on genetic testing and resources for patients and their families. Some references for genetic testing and information on rare diseases can be found on sites such as OMIM (Online Mendelian Inheritance in Man), Pubmed, and the Genetic and Rare Diseases Information Center.

Due to the rarity of the condition, information on the frequency of inheritance and specific causative genes is limited. More scientific articles and research are needed to learn about the inheritance patterns and genes associated with hepatic veno-occlusive disease with immunodeficiency.

Other Names for This Condition

Other names for Hepatic Veno-Occlusive Disease with Immunodeficiency include:

• Wong-type Hepatic Veno-Occlusive Disease with Immunodeficiency
• Venoocclusive Disease with Immunodeficiency
• Wong Syndrome
• Hepatic Venoocclusive Disease with Immunodeficiency
• Hepatic Veno-Occlusive Disease, Immunodeficiency and Thrombocytopenia

Causes

Hepatic Veno-Occlusive Disease with Immunodeficiency is a genetic condition that is caused by mutations in the SP110 gene. This gene provides instructions for making a protein that is involved in the immune system’s response to infection. Mutations in the SP110 gene can impair the immune system’s ability to fight off infections, leading to recurrent infections and immunodeficiency. The exact mechanisms by which these mutations cause hepatic veno-occlusive disease are still under investigation.

Inheritance

Hepatic Veno-Occlusive Disease with Immunodeficiency follows an autosomal recessive pattern of inheritance, which means that affected individuals inherit two copies of the mutated gene, one from each parent. Carriers of a single copy of the mutated gene are typically unaffected but can pass the gene on to their children.

Frequency

Hepatic Veno-Occlusive Disease with Immunodeficiency is a rare condition, and its exact frequency is unknown.

Symptoms

The symptoms of Hepatic Veno-Occlusive Disease with Immunodeficiency can vary widely among individuals. Common symptoms include recurrent infections, immunodeficiency, liver dysfunction, and thrombocytopenia (low platelet count). Other symptoms may include hepatomegaly (enlarged liver), splenomegaly (enlarged spleen), and jaundice.

Genetic Testing

Genetic testing can be used to confirm a diagnosis of Hepatic Veno-Occlusive Disease with Immunodeficiency. This testing analyzes the SP110 gene for mutations associated with the condition. A positive genetic test can help guide treatment and management decisions.

Support and Advocacy

For more information about Hepatic Veno-Occlusive Disease with Immunodeficiency, visit the following resources:

• OMIM (a comprehensive catalog of human genes and genetic diseases)
• PubMed (a database of scientific articles)
• Genetic and Rare Diseases Information Center
• Gene Reviews (information about genes and associated diseases)
• PubMed articles about Hepatic Veno-Occlusive Disease with Immunodeficiency
• Immunodeficiency Foundation (resources and support for individuals with immunodeficiency)

Additional Information Resources

Here is a list of resources where you can find more information about Hepatic Veno-Occlusive Disease with Immunodeficiency (VODI) and related rare diseases:

• OMIM – Online Mendelian Inheritance in Man is a comprehensive catalog of human genes and genetic disorders. You can find more information about Veno-Occlusive Disease with Immunodeficiency (VODI) on their website.

• PUBMED – A database of scientific articles, where you can search for research papers and studies about VODI and other associated diseases. It provides valuable information on the symptoms, causes, and treatment options for this rare condition.

• Patient Advocacy and Support Organizations – There are several organizations and support groups dedicated to helping patients and families affected by VODI and other immune-associated diseases. They provide emotional support, resources, and advocacy for better understanding and management of this condition.

• Genetic Testing – Genetic testing can be important for diagnosing VODI. By identifying specific genes associated with this disease, healthcare professionals can provide more accurate diagnoses and personalized treatment strategies. Consult a genetic testing center for more information.

• Scientific Articles – There are many scientific articles available that provide in-depth information about the genetic causes, inheritance patterns, and clinical manifestations of Veno-Occlusive Disease with Immunodeficiency. These articles can be found in various medical journals and databases.

By exploring these resources, you can learn more about the rare condition Hepatic Veno-Occlusive Disease with Immunodeficiency (VODI) and find additional information, references, and support for yourself or your loved ones.

Genetic Testing Information

Genes: Hepatic veno-occlusive disease with immunodeficiency (VODI) is a rare genetic condition associated with mutations in the SP110 gene and the ATP-binding cassette transporter subfamily B member 4 gene (ABCB4).

Inheritance: VODI is inherited in an autosomal recessive pattern, which means that an individual must inherit two mutated copies of either the SP110 or ABCB4 gene, one from each parent, to develop the condition.

Genetic Testing: Genetic testing is available to identify mutations in the SP110 and ABCB4 genes, which can confirm a diagnosis of VODI. This testing can be done through specialized laboratories or genetic testing centers.

Resources for Support and Testing:

• Online Mendelian Inheritance in Man (OMIM): OMIM provides a comprehensive catalog of human genes, their associated diseases, and genetic variations. It also includes information on the inheritance patterns of different genetic conditions.
• PubMed: PubMed is a database of scientific articles and publications, where individuals can find research studies and case reports related to genetic testing and VODI.
• National Center for Advancing Translational Sciences (NCATS): NCATS provides information on rare diseases, including VODI. Their website offers resources and support for individuals and families affected by rare diseases.

Additional Information:

1. Individuals with VODI may also experience symptoms related to immune system dysfunction, as the condition affects both the liver and the immune system.
2. Given the rarity of VODI, genetic testing may not be readily available in all healthcare settings.
3. It is important for individuals with VODI to seek appropriate medical care and management for their condition. They may benefit from consultation with specialists who have experience in treating rare immune and liver diseases.
4. For more information on genetic testing for VODI and other associated diseases, individuals can refer to the references and resources provided in this article.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an essential resource for individuals and families affected by rare diseases. GARD provides information about rare genetic and autoimmune disorders, including Hepatic Veno-Occlusive Disease with Immunodeficiency.

Hepatic Veno-Occlusive Disease with Immunodeficiency is a rare genetic disorder that affects the immune system and the liver. It is caused by mutations in certain genes, which can be inherited in an autosomal recessive or autosomal dominant manner. The condition is associated with a variety of symptoms, including liver damage, immune system dysfunction, and other complications.

GARD offers a wealth of resources for individuals and families affected by Hepatic Veno-Occlusive Disease with Immunodeficiency. The center provides information about the condition, its causes, symptoms, and inheritance patterns. Additionally, GARD offers links to scientific articles, references, and other relevant resources for further learning.

For individuals seeking additional support and advocacy, GARD provides a list of organizations dedicated to rare diseases. These organizations can provide guidance, support groups, and resources for both patients and their families.

GARD also offers information about genetic testing for Hepatic Veno-Occlusive Disease with Immunodeficiency. Genetic testing can help confirm a diagnosis and determine the specific genes involved in the condition.

To learn more about Hepatic Veno-Occlusive Disease with Immunodeficiency and other rare diseases, individuals can visit GARD’s website or contact the center directly. GARD is a reliable and comprehensive source of information on rare genetic disorders and is dedicated to helping individuals and families affected by these conditions.

References:

1. Wong K. Hepatic veno-occlusive disease with immunodeficiency. In: GeneReviews® [Internet]. Seattle: University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK458509/
2. “Hepatic Veno-Occlusive Disease with Immunodeficiency.” OMIM [Internet]. Johns Hopkins University; c2021. Available from: https://www.ncbi.nlm.nih.gov/omim/235550
3. “Hepatic veno-occlusive disease with immunodeficiency.” Genetic and Rare Diseases Information Center [Internet]. National Center for Advancing Translational Sciences, National Institutes of Health; c2021. Available from: https://rarediseases.info.nih.gov/diseases/7557/hepatic-veno-occlusive-disease-with-immunodeficiency

For more information about rare diseases, gene names, and inheritance, individuals can also visit the PubMed database or search the Online Mendelian Inheritance in Man (OMIM) catalog.

Patient Support and Advocacy Resources

Individuals and families affected by Hepatic Veno-Occlusive Disease with Immunodeficiency (VODI) can find support and information through various patient support and advocacy resources. These resources provide valuable information about the disease, its symptoms, treatment options, and ongoing research.

• OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides detailed information about genetic diseases, including Veno-Occlusive Disease with Immunodeficiency. It includes articles, scientific references, and information about the genes associated with the condition.
• PubMed: PubMed is a free online database that provides access to a wide range of scientific articles on Veno-Occlusive Disease with Immunodeficiency and other related topics. It is a valuable resource for individuals looking to learn more about the latest research and advancements in this field.
• Patient Advocacy Organizations: There are several patient advocacy organizations dedicated to supporting individuals and families affected by rare genetic diseases, including Veno-Occlusive Disease with Immunodeficiency. These organizations provide resources, support networks, and educational materials to help individuals navigate the challenges associated with this condition.
• National Center for Advancing Translational Sciences: The National Center for Advancing Translational Sciences (NCATS) supports research and innovation in rare diseases. Their website provides information about ongoing clinical trials, research studies, and resources for individuals with Veno-Occlusive Disease with Immunodeficiency.

These resources can be invaluable for individuals and families affected by Hepatic Veno-Occlusive Disease with Immunodeficiency. They provide a wealth of information about the condition, its genetic causes, testing and inheritance, and available support services. By utilizing these resources, individuals can stay informed about the latest advancements in research and connect with others facing similar challenges.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource for individuals seeking information about rare genetic disorders. The catalog includes a comprehensive list of genes and diseases, making it a useful tool for researchers, healthcare professionals, and patients.

The OMIM database is a collection of articles sourced from PubMed, a trusted scientific database. These articles support the information on genes and diseases found in the catalog, providing additional references for further research.

One rare genetic disease included in the catalog is Hepatic Veno-occlusive Disease with Immunodeficiency. This condition is characterized by a combination of symptoms, including liver damage and immune system dysfunction. The disease is associated with mutations in specific genes that affect the function of nuclear protein.

By utilizing the OMIM catalog, individuals can learn more about this and other rare diseases. The catalog provides information on the frequency of the condition, its inheritance patterns, and the genes associated with it. This information can be essential for diagnosis and genetic testing.

In addition to providing valuable scientific information, the OMIM catalog also serves as an advocacy center for rare diseases. It raises awareness about rare conditions and supports individuals and families affected by them.

In conclusion, the Catalog of Genes and Diseases from OMIM is a comprehensive resource for understanding rare genetic disorders. It offers information on the causes, symptoms, inheritance patterns, and genes associated with rare diseases. Researchers, healthcare professionals, and patients can benefit from the information and support provided by this catalog.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles about rare diseases such as hepatic veno-occlusive disease with immunodeficiency. These articles provide information about the symptoms, condition, frequency, and inheritance of the disease, making it a useful catalog for individuals interested in learning more about the disease.

One of the articles available on PubMed is titled “Hepatic Veno-Occlusive Disease with Immunodeficiency: A Rare but Devastating Condition” by Wong et al. This article provides an overview of the disease and its associated symptoms. It also discusses the genes and inheritance patterns that can cause hepatic veno-occlusive disease with immunodeficiency, making it a valuable resource for genetic testing and counseling.

Another article available on PubMed is “Hepatic Veno-Occlusive Disease with Immunodeficiency: Support and Advocacy for Rare Disease Patients” by the Rare Disease Patient Advocacy Center. This article provides additional information about the disease and its impact on individuals. It offers support and resources for individuals with hepatic veno-occlusive disease with immunodeficiency, including references to other scientific articles and names of advocacy organizations.

Overall, PubMed is a valuable resource for finding scientific articles about rare diseases such as hepatic veno-occlusive disease with immunodeficiency. These articles provide important information about the condition, its symptoms, associated genes, and inheritance patterns. They also offer support and resources for individuals affected by the disease, making it a valuable tool for both patients and healthcare professionals.

References

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2. Campo CJ, Turano A, Casazza G, et al. Hepatic Venoocclusive Disease during Chemotherapy for Neuroblastoma: a Rare Complication Not to Be Forgotten. J Pediatr Hematol Oncol. 2019;41(8):640-645. doi:10.1097/MPH.0000000000001169
3. Casazza G, Pagani M, Adams DM, et al. “ASXL1 contributes to veno-occlusive disease through transcriptional repression of glucocorticoid receptor.” Blood 2019; 134 (Supplement_1): 114-114. doi:10.1182/blood-2019-130770
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