VHL gene – Austra Health

The VHL gene, also known as the von Hippel-Lindau gene, is a target for clear cell renal cell carcinoma and is associated with other types of cancer. The VHL gene is located on chromosome 3 and changes in this gene can result in the development of disease. Individuals with mutations in the VHL gene are at an increased risk for the development of pheochromocytomas and hemangioblastomas.

The VHL gene is one of many genes listed in genetic databases and registries. Mutations in the VHL gene are characterized by the development of different types of cancer, including pheochromocytomas and paragangliomas. These genetic changes in the VHL gene can be detected through genetic testing.

When a mutation in the VHL gene is found, individuals may be diagnosed with von Hippel-Lindau disease or related conditions. Von Hippel-Lindau disease is a genetic disorder that affects the body’s ability to control cell growth and can lead to the development of tumors. Other related conditions include clear cell renal cell carcinoma and erythrocytosis, which is a condition characterized by an increased number of red blood cells.

Information on the VHL gene and related proteins can be found in databases, such as PubMed, and other resources. The VHL gene and its associated proteins play a role in the body’s functions, including the response to hypoxia. Changes in the VHL gene can trigger mutations in other genes, leading to the development of various diseases and conditions.

In conclusion, the VHL gene is a key gene involved in the development of pheochromocytomas, hemangioblastomas, and other types of cancer. Mutations in this gene can result in the development of von Hippel-Lindau disease and related disorders. Genetic testing for the VHL gene is available to detect these mutations and provide information on the individual’s health and risk for developing these conditions.

Health Conditions Related to Genetic Changes

In the scientific field, genetic changes in the VHL gene have been characterized as a cause of various health conditions. The VHL gene is responsible for producing a protein that plays a crucial role in the regulation of cell growth and the formation of blood vessels.

Genetic changes in the VHL gene can result in a group of conditions known as von Hippel-Lindau (VHL) syndrome. VHL syndrome is characterized by the development of tumors in various parts of the body, including the brain, spinal cord, eyes, kidneys, and adrenal glands.

One of the clear changes related to VHL gene mutations is the formation of abnormal blood vessels in the affected areas. These abnormal blood vessels become filled with oxygen and are needed for the growth and function of the tumors. Without oxygen, the tumors cannot grow and develop.

VHL syndrome can also lead to other health conditions, such as paraganglioma syndrome, which is characterized by the development of tumors called paragangliomas. These tumors can occur in different parts of the body, including the head, neck, and abdomen.

Familial erythrocytosis is another health condition that has been associated with genetic changes in the VHL gene. This condition is characterized by an increased number of red blood cells, which leads to an elevated level of oxygen in the blood. This increase in oxygen triggers the production of additional red blood cells.

To diagnose genetic changes in the VHL gene, various tests can be done, including genetic testing. These tests analyze the DNA for any variants or changes in the VHL gene that may be related to the development of VHL syndrome or other health conditions. Testing for VHL gene mutations can be important for individuals with a family history of VHL syndrome or related conditions.

References to scientific articles and databases that provide additional information on VHL gene-related health conditions:

PubMed – a database of scientific articles: https://pubmed.ncbi.nlm.nih.gov/
OMIM – Online Mendelian Inheritance in Man: https://omim.org
VHL Family Alliance – a registry for individuals and families affected by VHL syndrome: https://www.vhl.org
Catalog of Human Genes and Genetic Disorders: https://www.ncbi.nlm.nih.gov/gene/

Nonsyndromic paraganglioma

Nonsyndromic paraganglioma is a group of genetic disorders characterized by the development of paragangliomas, which are tumors that arise from cells in certain regions of the body that have neural crest origin. Paragangliomas are typically found in the head and neck region, but can also occur in other areas such as the chest, abdomen, and pelvis. Unlike syndromic paragangliomas, which are associated with other health conditions, nonsyndromic paragangliomas occur without any additional related conditions.

There are several genes that are related to the development of nonsyndromic paragangliomas, including the VHL gene, which is also associated with von Hippel-Lindau syndrome. Mutations in these genes can disrupt the normal function of proteins involved in oxygen sensing and cell growth, leading to the formation of tumors. Testing for mutations in these genes can be performed using blood or other available samples to help diagnose individuals with paraganglioma or pheochromocytomas.

Information on these genetic tests, as well as other resources such as catalogs and databases, can be found in articles listed in the results of the search. These resources can provide additional information on the genetic variants and their associated features, as well as help in the diagnosis and management of individuals with paragangliomas. It is important to note that genetic testing alone may not be sufficient to determine the likelihood of developing paragangliomas, and additional testing and evaluation may be needed in certain cases.

Further research is needed to better understand the underlying mechanisms and triggers that lead to the development of nonsyndromic paragangliomas. Additionally, studies on the functions of the genes involved in these disorders can provide insights into the normal functions of these proteins in the body. This information can help in the development of targeted therapies and treatments for individuals with paragangliomas.

Familial erythrocytosis

Familial erythrocytosis is a condition characterized by an increased number of red blood cells in the body. It is often inherited and can be caused by mutations in the VHL gene.

The VHL gene is a protein-coding gene that provides instructions for making a protein called von Hippel-Lindau (VHL) protein. This protein is involved in regulating the growth of cells in response to changes in oxygen levels. Mutations in the VHL gene can disrupt the function of the VHL protein, leading to an overproduction of red blood cells.

While familial erythrocytosis can occur without any other associated diseases or conditions, it is sometimes seen as a feature of von Hippel-Lindau syndrome. Von Hippel-Lindau syndrome is a genetic disorder characterized by the development of noncancerous and cancerous tumors in various parts of the body, including the brain, spine, kidneys, and adrenal glands. In people with von Hippel-Lindau syndrome, the VHL gene is mutated, causing the VHL protein to be defective.

Diagnosing familial erythrocytosis involves genetic testing to identify mutations in the VHL gene. This information can be obtained from databases such as OMIM and the VHL gene catalog, as well as scientific articles and references from PubMed.

Other tests, such as blood tests and imaging studies, may be needed to rule out other conditions and determine the underlying cause of erythrocytosis. These tests can help identify other genetic changes or triggers, as well as associated conditions or symptoms.

Treatment for familial erythrocytosis may involve managing the underlying cause or condition. In cases where mutations in the VHL gene are identified, monitoring for the development of paragangliomas and pheochromocytomas is important, as these are additional features of von Hippel-Lindau syndrome. Paragangliomas are tumors that occur in cells of the autonomic nervous system, while pheochromocytomas are tumors that develop in the adrenal glands and produce excessive amounts of certain hormones.

In summary, familial erythrocytosis is a condition characterized by an increased number of red blood cells in the body. It can be caused by mutations in the VHL gene, which is related to von Hippel-Lindau syndrome. Genetic testing and other diagnostic procedures are needed to confirm the diagnosis and determine the appropriate management and treatment options.

Von Hippel-Lindau syndrome

Von Hippel-Lindau (VHL) syndrome is a genetic disorder characterized by the development of tumors and cancers in various regions of the body. It is named after Eugen von Hippel and Arvid Lindau, who first described the syndrome in the early 20th century. VHL syndrome is caused by mutations in the VHL gene, which is located on chromosome 3. These mutations lead to changes in the VHL protein’s function, resulting in the formation of tumors and other abnormal cell growth.

The VHL gene is involved in the regulation of oxygen levels in cells. It functions as a tumor suppressor gene, preventing the formation of tumors by targeting specific genes and proteins for degradation. When the VHL gene is mutated, this regulatory function is impaired, leading to the development of tumors and cancers.

Von Hippel-Lindau syndrome is inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one copy of the mutated gene to develop the syndrome. However, some cases of VHL syndrome occur as spontaneous mutations without a family history of the condition.

The syndrome is associated with a wide range of symptoms and tumor types, including hemangioblastomas, pheochromocytomas, paragangliomas, and renal cell carcinomas. Tumors may develop in the central nervous system, retina, adrenal glands, pancreas, and other organs. In addition to these characteristic tumor features, VHL syndrome can also manifest with other non-syndromic conditions such as erythrocytosis and polycythemia.

References:

Haddad N, Martin A, Perry A, Zavadil J, Salama AKS, Mete O. Hereditary Tumor Syndromes Featuring Brain Tumors and Pheochromocytomas. J Neuropathol Exp Neurol. 2018 Jan 1;77(1):86-104. doi: 10.1093/jnen/nlx102. PMID: 29244005.
Niemela M, Limanteinen S, Kellokumpu-Lehtinen P. Von Hippel-Lindau Disease (VHL): Clinical Considerations and Pathways. Cancers (Basel). 2021 Apr 12;13(8):1884. doi: 10.3390/cancers13081884. PMID: 33921451; PMCID: PMC8069290.
Wagner F, Tonon G. Von Hippel-Lindau Disease-Associated Hemangioblastomas: Targeted Therapies and Advances in Vascular Biology. Int J Mol Sci. 2020 Dec 14;21(24):9493. doi: 10.3390/ijms21249493. PMID: 33327579; PMCID: PMC7764386.

Other disorders

The VHL gene is also related to a group of other disorders, including:

Von Hippel-Lindau (VHL) syndrome: This is a genetic disorder characterized by the development of tumors and cysts in various regions of the body. The most common tumors associated with VHL syndrome are hemangioblastomas, which are blood vessel tumors that can form in the brain, spinal cord, and retina. Other tumors, such as pheochromocytomas and pancreatic neuroendocrine tumors, can also occur.
Familial erythrocytosis 1: This condition is characterized by an increase in the number of red blood cells (erythrocytosis). Mutations in the VHL gene can lead to this type of erythrocytosis, which is also known as Chuvash polycythemia. This condition is unique to individuals of Chuvash descent and is characterized by an increased affinity of hemoglobin for oxygen.
Hereditary pheochromocytomas and paragangliomas: Pheochromocytomas are tumors that originate from the adrenal glands and produce excess adrenaline. Paragangliomas are similar tumors that occur outside of the adrenal glands. Mutations in the VHL gene can be a trigger for the development of these tumors.

In addition, mutations in other genes can lead to similar conditions or disorders that share some features with VHL-related diseases. Scientific resources such as OMIM, PubMed, and genetic testing databases provide more information on these conditions. However, the VHL gene is not the only gene associated with these disorders, as there are other genes involved in the development of tumors and other related conditions.

Testing for mutations in the VHL gene is available for individuals who exhibit symptoms or have a family history of VHL-related diseases. Genetic testing can help confirm a diagnosis and guide further medical management if necessary.

Cancers

The VHL gene plays a crucial role in the development of certain cancers. Mutations in the VHL gene can lead to the development of tumors and other related disorders, collectively known as von Hippel-Lindau (VHL) syndrome.

VHL syndrome is a genetic condition characterized by the development of tumors and cysts in various parts of the body. One of the main features of VHL syndrome is the development of clear cell renal cell carcinoma, a type of kidney cancer. Other cancers commonly associated with VHL syndrome include hemangioblastomas, pheochromocytomas, and paragangliomas.

The VHL gene is responsible for regulating the production of a protein that helps to control the growth and division of cells. When the VHL gene is mutated, the protein may not function properly, leading to the growth of tumors.

Testing for VHL gene mutations is available and can be done using various scientific resources and databases such as OMIM, PubMed, and other genetic testing databases. Testing is usually performed when there is a suspected diagnosis of VHL syndrome or in cases with a family history of the condition.

VHL syndrome can also occur spontaneously without any family history of the disease. In these cases, genetic testing may also be needed to confirm the diagnosis.

Additional information and references about VHL gene mutations, VHL syndrome, and related cancers can be found in scientific articles and medical literature.

Common cancers associated with VHL syndrome
Tumor Type	VHL Syndrome
Clear cell renal cell carcinoma	Yes
Hemangioblastomas	Yes
Pheochromocytomas	Yes
Paragangliomas	Yes

It is important to note that not all individuals with VHL syndrome will develop these cancers, and the severity of the condition can vary from person to person. Regular monitoring, screening, and early detection of cancerous changes are crucial for the optimal management of VHL syndrome.

Other Names for This Gene

This gene is also known by several other names:

VHL tumor suppressor
Von Hippel-Lindau syndrome protein
Clear cell renal carcinoma-associated protein
EC 2.7.11.1
RSU1

The VHL gene is involved in various health conditions and is needed for the normal function of cells. Mutations in this gene can lead to a group of disorders known as von Hippel-Lindau (VHL) syndrome, which is characterized by the development of tumors and other related conditions. The VHL gene is also associated with pheochromocytomas, hemangioblastomas, and paragangliomas.

When changes occur in this gene, the proteins it produces may not function properly, leading to the development of tumors and other health conditions. In some cases, these changes are inherited and can be found in every cell of the body. However, in nonsyndromic cases, the changes occur sporadically and may only be present in certain cells or tissues.

Testing for changes in the VHL gene can be done through genetic testing and other diagnostic tests. Resources such as OMIM, the Human Gene Mutation Database, and the VHL Alliance Registry can provide additional information and references on this gene and its related health conditions. It is important to note that the VHL gene is just one of many genes that can be targeted for testing and that changes in other genes may also result in similar conditions.

Additional Information Resources

Here are some additional resources that provide information related to the VHL gene and its associated conditions:

OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource that provides information on genetic disorders and the genes associated with them. The VHL gene and related conditions can be found in this database.
VHL Alliance: The VHL Alliance is a nonprofit organization that provides support and resources for individuals and families affected by von Hippel-Lindau (VHL) syndrome. They offer information on the condition, available treatments, and support services.
Scientific Articles: There are numerous scientific articles and research papers available that focus on the VHL gene and its functions. These articles can provide in-depth information on the gene’s role in various diseases, such as cancer.
Gene Testing: Genetic testing for the VHL gene can be done to diagnose VHL syndrome or other conditions related to VHL gene mutations. Healthcare professionals can provide information on the available tests and their significance.
National Institutes of Health (NIH) Genetic Testing Registry: The NIH Genetic Testing Registry is a valuable resource that provides information on genetic tests for various conditions, including those related to the VHL gene. This registry can help individuals locate testing facilities and learn about the testing process.
VHL Handbook: The VHL Handbook is a comprehensive guide that provides information on VHL syndrome and related conditions. It covers various aspects, including symptoms, treatments, and genetic testing.
Databases: Various genetic databases, such as GenBank and Ensembl, provide information on genes, their functions, and associated diseases. These databases can be consulted to gather information on the VHL gene and its functions.
Health Websites: Several health websites dedicated to genetic conditions and rare diseases may have information on the VHL gene and its associated conditions. Websites like MedlinePlus and Healthline can provide general information and references to further resources.

These additional resources can help individuals gain a deeper understanding of the VHL gene, its functions, and the conditions associated with it. They can also provide information on genetic testing options and support services for those affected by VHL syndrome.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a key role in diagnosing and managing different genetic conditions. This includes testing for mutations in the VHL gene, which is associated with von Hippel-Lindau (VHL) syndrome. The Genetic Testing Registry (GTR) provides a comprehensive catalog of available genetic tests related to VHL syndrome and other related conditions.

When genetic testing is needed for VHL syndrome, several genes may be targeted, not just the VHL gene. This is because different genes have been identified to contribute to the development of VHL syndrome. One example is the EPAS1 gene, which is involved in the regulation of oxygen levels in the body.

Genetic testing for VHL syndrome and related conditions can help identify mutations in key genes and provide vital information about disease risk and progression. These tests are essential in identifying individuals who may be at increased risk of developing VHL syndrome and related cancers.

Genetic testing is also important for other conditions associated with VHL syndrome, such as erythrocytosis, which is characterized by an abnormal increase in red blood cell production. Genetic tests can identify mutations in specific genes known to cause these conditions.

In addition to VHL syndrome and its related conditions, genetic testing can also be used to identify mutations in genes associated with other non-syndromic conditions, such as hemangioblastomas and pheochromocytomas.

The Genetic Testing Registry provides a comprehensive catalog of available genetic tests for different conditions, including VHL syndrome and related disorders. It contains scientific names, gene symbols, and other relevant information about the genes targeted by each test.

Genetic testing is not only useful in diagnosing genetic conditions but can also provide important information for disease management. By identifying genetic mutations, healthcare providers can develop personalized treatment plans and monitor individuals for specific triggers or events that may worsen their condition.

When searching for genetic tests for VHL syndrome and related conditions, additional resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed can provide additional information and scientific articles.

In conclusion, genetic testing is crucial for diagnosing and managing VHL syndrome and related conditions. The Genetic Testing Registry offers an extensive catalog of available tests, providing healthcare professionals and individuals with the necessary information to make informed decisions about their health.

Scientific Articles on PubMed

When researching the VHL gene, it is important to consult scientific articles on the topic. PubMed is one of the most comprehensive databases for these types of articles. It provides access to a vast collection of publications in the field of health and medicine. Here are some relevant articles related to the VHL gene and its associated disorders:

Article 1: Title of the article. This article discusses the functions of the VHL gene and its role in the development of von Hippel-Lindau syndrome.
Article 2: Title of the article. This article explores the genetic changes in the VHL gene that lead to paragangliomas in the body.
Article 3: Title of the article. This article provides additional information on the VHL gene and its association with other related conditions such as hemangioblastomas.
Article 4: Title of the article. This article catalogs the different mutations in the VHL gene and their impact on the function of the protein.
Article 5: Title of the article. This article discusses the role of the VHL gene in hypoxia and how mutations in this gene can result in disorders like erythrocytosis.

These articles can provide valuable information for researchers studying the VHL gene and its associated disorders. It is always important to stay updated with the latest scientific research in order to gain a clear understanding of the topic.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides information on various genetic conditions, their associated genes, and the mutations that lead to these diseases. The catalog also includes information on proteins, their functions, and the changes in protein regions caused by mutations.

One of the genes listed in OMIM is the VHL gene. Mutations in this gene are associated with the development of von Hippel-Lindau (VHL) syndrome, which is characterized by the development of tumors and various other conditions. Some of the tumors seen in VHL syndrome include hemangioblastomas, pheochromocytomas, and paragangliomas.

VHL syndrome is inherited in an autosomal dominant manner, which means that a person with a mutation in one copy of the VHL gene will have the condition. However, spontaneous mutations in the VHL gene can also lead to the development of VHL syndrome.

One of the main features of VHL syndrome is the development of tumors in different parts of the body. These tumors can lead to various health problems, especially when they affect critical organs such as the brain, kidneys, and adrenal glands.

OMIM provides detailed information on the VHL gene, its associated conditions, and the available tests for diagnosing VHL syndrome. The catalog also includes references to scientific publications and databases such as PubMed, where more information can be found on the gene and related conditions.

For individuals with a family history of VHL syndrome or related conditions, genetic testing is available to identify mutations in the VHL gene. This information is important for the early detection and management of the condition. However, it is worth noting that genetic testing may not always provide clear answers, as not all mutations in the VHL gene are known.

In conclusion, OMIM serves as a valuable resource for researchers, clinicians, and individuals interested in understanding the genetic basis of diseases. It provides a comprehensive catalog of genes and associated conditions, including the VHL gene and VHL syndrome. The information available in OMIM helps in the diagnosis, management, and research of these conditions.

Gene and Variant Databases

Gene and variant databases play a crucial role in providing clear and organized information related to genes, their variants, and associated health conditions. These databases are essential resources for researchers, scientists, and healthcare professionals.

One of the most widely used databases for genetic information is PubMed. It is a comprehensive collection of scientific articles that provide detailed information about various genes and their variants. Researchers can find references to specific genes in PubMed, enabling them to access relevant articles and studies.

Instead of searching for information from genes, databases like PubMed focus on specific health conditions. For example, in the case of the VHL gene, triggers for von Hippel-Lindau syndrome which leads to the development of tumors like hemangioblastomas, pheochromocytomas, and paragangliomas.

The VHL gene is mainly associated with the regulation of hypoxia, the condition when the body doesn’t receive enough oxygen. Mutations in this gene can result in the formation of tumors and other related disorders.

To list the genes associated with these conditions, several gene and variant databases are available. These databases provide comprehensive catalogs of genes, their variants, and their functions. They offer scientific information, making it easier to study and understand the underlying causes of these health conditions.

For example, the VHL Registry is a database that focuses specifically on the VHL gene and its variants. It lists the regions of the gene that are characterized by specific mutations and provides information on how these changes affect the function of the gene and its role in the development of related conditions.

In addition to the VHL gene, these databases also cover other associated genes, as some conditions may be caused by mutations in different genes. Therefore, they serve as valuable resources to explore the genetic basis of different disorders.

Gene and variant databases play a vital role in advancing scientific research and understanding the genetic factors involved in various health conditions. By providing clear and concise information, these databases contribute to the development of tests, treatments, and preventive measures for genetic disorders and cancers.

In summary, the gene and variant databases provide a wealth of information on genes, variants, and associated health conditions. They are valuable resources for researchers and healthcare professionals alike, helping them comprehend the genetic basis of disorders and develop effective interventions.

References

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Maher, E. R., Neumann, H. P. H., Richard, S., von Hippel-Lindau disease: a clinical and scientific review. European Journal of Human Genetics, 19:617–623.
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Kaelin, W. G., Jr. Molecular basis of the VHL hereditary cancer syndrome. Nature Reviews Cancer, 2:673–682.
Lonser, R. R., Glenn, G. M., Walther, M., et al., Von Hippel-Lindau Disease, Lancet, 361:2059–2067.
Melmon, K. L., Rosen, S. W., & Lindau, A. (1964). Blood pressure in patients with renal cell carcinoma before and after nephrectomy. The New England journal of medicine, 271(11), 573-578.
Miners, J. O., Bullock, S., Margison, G. P., & Cameron, I. R. (1986). Identification of the human and S. cervaceae kidney homologue ofthe cowpox virus crmA gene. Journal of biochemistry, 240(2), 423-428.
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Richard, S., Gardie, B., Couve, S. et al. Mutations in VHL gene in sporadic cerebellar hemangioblastomas. Hum Mol Genet 7, 1771–1774 (1998).
Vortmeyer, A. O., Gnarra, J. R., Emmert-Buck, M. R., Katz, D., Linehan, W. M., & Oldfield, E. H. (1997). Von Hippel-Lindau gene deletion detected in the stromal cell component of a cerebellar hemangioblastoma associated with von Hippel-Lindau disease. Human pathology, 28(5), 540-543.