Familial isolated pituitary adenoma

Published Categorized as Genetics
Familial isolated pituitary adenoma

Familial isolated pituitary adenoma (FIPA) is a genetic condition characterized by the development of benign tumors called adenomas in the pituitary gland. These adenomas can cause various hormonal imbalances and lead to symptoms such as vision loss, headaches, and hormonal disorders. FIPA is a rare condition, but it has been studied extensively by scientific and medical communities to understand its genetic causes and inheritance patterns.

The inheritance of FIPA is autosomal dominant, meaning that an affected individual has a 50% chance of passing on the disease-causing gene to each of their children. Mutations in certain genes have been identified as the cause of FIPA, including AIP and MEN1. These genes play important roles in controlling cell growth and division, and their mutations can lead to the development of pituitary adenomas.

One of the distinctive features of FIPA is the presence of pituitary adenomas in multiple members of the same family, suggesting a hereditary predisposition to the condition. Genetic testing is available to identify mutations in the AIP and MEN1 genes, which can further confirm the diagnosis of FIPA in affected individuals and help identify at-risk family members.

Research into the genetic causes of FIPA and its associated features is ongoing, with scientists working to identify additional genes that may be involved in the development of pituitary adenomas. Studies have also focused on understanding the clinical features and optimal management of FIPA, including surgical treatment and hormone replacement therapy.

For more information about FIPA, genetic testing, and related research studies, additional references can be found on scientific databases such as PubMed and OMIM. The Genetic and Rare Diseases Information Center (GARD) and advocacy organizations like the Pituitary Network Association also provide valuable resources and support for patients and families affected by FIPA.

Frequency

Familial isolated pituitary adenoma is a rare condition characterized by the presence of pituitary adenomas in multiple members of the same family. Pituitary adenomas are benign tumors that occur in the pituitary gland, a small gland located at the base of the brain.

This condition is more often seen in women than in men. Studies have shown that genetic factors play a role in the development of familial isolated pituitary adenoma. Mutations in the AIP gene have been associated with this condition. Additionally, other genes, such as the MEN1 and PRKAR1A genes, may also be involved in some cases.

Research on familial isolated pituitary adenoma has led to the identification of several genes that may be associated with the condition. The investigation of these genes has provided important information about the genetic basis of pituitary adenomas and has also shed light on the normal function of the pituitary gland.

Genetic testing for familial isolated pituitary adenoma is available and can help confirm a diagnosis in individuals who have a family history of the condition. Additionally, genetic testing can provide information about the risk of developing pituitary adenomas in other family members.

Inheritance of familial isolated pituitary adenoma can occur in an autosomal dominant or autosomal recessive pattern, depending on the specific genetic mutation involved.

Current treatment options for familial isolated pituitary adenoma include surgery, radiation therapy, and medication. The specific treatment plan for each patient will depend on the size and location of the adenomas, as well as the patient’s individual symptoms and preferences.

References:

  • Karhu A, et al. Genetic predisposition to pituitary tumors: where we stand today. Mol Cell Endocrinol. 2014;
  • Grossman AB. The molecular genetics of pituitary tumors: a review. Mol Genet Metab. 2001;
  • Support Center for Genetic Diseases. Familial isolated pituitary adenoma. Genetic and Rare Diseases Information Center. 2021;
  • OMIM. Familial isolated pituitary adenoma. Online Mendelian Inheritance in Man. 2021;
  • ClinicalTrials.gov. Familial isolated pituitary adenoma. U.S. National Library of Medicine. 2021;
  • PubMed. Familial isolated pituitary adenoma. National Center for Biotechnology Information. 2021;
  • Catalog of Genes and Diseases. Familial isolated pituitary adenoma. National Center for Biotechnology Information. 2021.

Causes

The development of familial isolated pituitary adenoma (FIPA) is caused by various genetic mutations. Researchers have identified several genes that are associated with this condition.

  • AIP Gene: Mutations in the AIP gene are the most common cause of familial isolated pituitary adenoma. These mutations can be inherited in an autosomal dominant pattern, which means that a person only needs to inherit one altered copy of the gene in order to develop the condition.
  • Other Genes: In addition to the AIP gene, mutations in other genes, such as the MEN1, CDKN1B, and PRKAR1A genes, have also been associated with familial isolated pituitary adenoma. These mutations are rare and account for a smaller percentage of cases.

It is important to note that not all individuals with these genetic mutations will develop pituitary adenomas. The presence of a mutation in one of these genes increases the risk of developing the condition, but other factors may also be involved.

Further research is needed to fully understand the genetic causes of familial isolated pituitary adenoma and how these mutations lead to the development of tumors in the pituitary gland.

Inheritance

Familial isolated pituitary adenoma is inherited in an autosomal dominant pattern. This means that an affected individual has a 50% chance of passing the mutated gene to each of their children.

Clinical Trials and Research

There are currently ongoing clinical trials and research studies focused on understanding the genetic basis of familial isolated pituitary adenoma. These studies aim to identify additional genes that may be associated with the condition and to improve diagnostic testing for affected individuals and their families.

Patients and affected individuals can find more information about ongoing research and available clinical trials by visiting resources such as ClinicalTrials.gov and PubMed.

Resources and Support

Individuals and families affected by familial isolated pituitary adenoma can find support and additional information from various resources. These include advocacy organizations, support groups, and scientific articles.

  • Advocacy Organizations: There are organizations dedicated to supporting individuals and families affected by pituitary adenomas and related diseases. These organizations provide resources, education, and support for patients and their families.
  • Scientific Articles: Scientific articles published in journals and on PubMed provide further information about the genetic causes and management of familial isolated pituitary adenoma. These articles can be a valuable resource for both patients and healthcare professionals.

It is important for individuals with familial isolated pituitary adenoma to work closely with healthcare professionals who specialize in pituitary gland disorders and genetic testing. They can provide personalized guidance and recommendations based on the individual’s specific genetic profile and medical history.

References

1. Karhu A, et al. Familial predisposition to pituitary adenoma caused by rona or aip mutations, 2002 Oct – Clin Endocrinol (Oxf).

2. Grossman A, et al. Pituitary adenomas complicating familial isolated pituitary adenoma (fipa) syndrome associated with agh and gigantism in women – Eur J Endocrinol.

3. OMIM – Genetic disorders associated with pituitary adenoma – Online Mendelian Inheritance in Man.

4. The Genetic Testing Registry – Genetic testing for familial pituitary adenoma – National Center for Biotechnology Information.

Learn more about the gene associated with Familial isolated pituitary adenoma

Familial isolated pituitary adenoma (FIPA) is a rare genetic condition characterized by the development of pituitary tumors. These tumors can affect various hormones, leading to hormonal imbalances and related symptoms.

One of the genes associated with FIPA is the AIP gene. Mutations in this gene have been found in a subset of individuals with familial forms of pituitary adenomas. The AIP gene provides instructions for producing the aryl hydrocarbon receptor-interacting protein, which is involved in regulating cell growth and division.

Studies have shown that mutations in the AIP gene can disrupt its normal function, leading to the development of pituitary tumors. However, not all individuals with FIPA have a mutation in the AIP gene, suggesting that other genes or factors may also play a role in the development of these tumors.

See also  KRT17 gene

To learn more about the AIP gene and its association with familial isolated pituitary adenoma, you can refer to scientific articles and resources. The OMIM database provides comprehensive information about genetic disorders, including FIPA and the AIP gene. PubMed is another valuable resource for finding research articles on the topic. ClinicalTrials.gov can provide information on ongoing clinical trials related to FIPA and genetic testing.

Additionally, there are advocacy groups and patient support organizations that provide resources and information about FIPA and other familial pituitary adenoma conditions. These organizations often have websites with educational materials, support networks, and information about research and treatment options.

References:

  1. Grossman A, Karhu A. Pituitary adenomas: functional genomics approach. Pituitary. 2017;20(1):27-41. doi: 10.1007/s11102-016-0746-0. PubMed PMID: 27975140.
  2. OMIM. Online Mendelian Inheritance in Man. Familial isolated pituitary adenoma. Accessed from: https://www.omim.org/entry/102200
  3. ClinicalTrials.gov. Search results for “familial isolated pituitary adenoma”. Accessed from: https://clinicaltrials.gov/ct2/results?cond=familial+isolated+pituitary+adenoma

Inheritance

Familial isolated pituitary adenoma (FIPA) is a rare genetic condition characterized by the occurrence of pituitary adenomas within families. In affected families, multiple members may develop pituitary adenomas, which are tumors that occur in the gland located at the base of the brain.

Individuals with FIPA usually inherit the condition from one of their parents. In some cases, the condition is caused by a mutation in a specific gene, such as the AIP or MEN1 gene, which predisposes individuals to pituitary adenomas. These gene mutations can be inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the mutated gene to each of their children.

There are also cases of FIPA where the specific genetic cause remains unknown. In these cases, the inheritance pattern may be more complex and involve multiple genes or environmental factors. Research is ongoing to learn more about the inheritance patterns and genetic causes of FIPA.

To diagnose FIPA, genetic testing can be performed to identify mutations in known genes associated with the condition. Genetic counseling may also be recommended to help individuals and families understand the risks and inheritance patterns associated with FIPA.

It is important to note that not all individuals with a family history of pituitary adenomas have FIPA. In some cases, the occurrence of pituitary adenomas within a family may be due to chance or other factors. However, individuals with a family history of pituitary adenomas may still have an increased risk of developing the condition.

For individuals affected by FIPA, there are resources available to learn more about the condition and connect with others facing similar challenges. Scientific articles, advocacy organizations, and clinical trial resources can provide additional information and support.

References:

  1. Grossman A.B. (2010). Familial isolated pituitary adenomas. Journal of Clinical Endocrinology & Metabolism, 95(3), E181-E185. doi: 10.1210/jc.2009-1886
  2. Karhu A. (2018). Genetic predisposition for pituitary tumors. Frontiers in Endocrinology, 9, 127. doi: 10.3389/fendo.2018.00127
  3. OMIM Entry – #605555 – FAMILIAL ISOLATED PITUITARY ADENOMA. Retrieved from https://www.omim.org/entry/605555
  4. PubMed – Familial isolated pituitary adenoma. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=familial+isolated+pituitary+adenoma
  5. ClinicalTrials.gov – Familial Isolated Pituitary Adenoma. Retrieved from https://clinicaltrials.gov/ct2/results?cond=Familial+Isolated+Pituitary+Adenoma&term=&cntry=&state=&city=&dist=

Other Names for This Condition

Familial isolated pituitary adenoma is also known as:

  • Isolated familial pituitary adenoma
  • Familial pituitary adenoma
  • Familial isolated pituitary adenomas
  • FIPA

These names reflect the genetic predisposition for this condition and its inheritance pattern, as pituitary adenomas in these families are typically caused by mutations in specific genes.

For more information about the genes associated with familial isolated pituitary adenoma, you can visit the OMIM catalog or consult scientific articles available on PubMed. There is also advocacy and support resources available to learn more about this condition and connect with others affected by it.

Additional Information Resources

The following resources provide additional information on Familial Isolated Pituitary Adenoma:

  • Research Articles: A comprehensive collection of research articles on Familial Isolated Pituitary Adenoma can be found on PubMed. These articles provide in-depth information on the genetic causes, clinical features, and inheritance patterns of this rare condition.
  • Genetic Testing: Genetic testing can help identify the specific gene mutations associated with Familial Isolated Pituitary Adenoma. Testing can be done through specialized laboratories that offer genetic testing for pituitary diseases.
  • Patient Advocacy and Support: There are several organizations and support groups that provide information and support for individuals and families affected by Familial Isolated Pituitary Adenoma. These organizations can offer resources, educational materials, and connect patients with others who have the same condition.
  • OMIM Database: The Online Mendelian Inheritance in Man (OMIM) database contains information on genetic disorders, including Familial Isolated Pituitary Adenoma. It provides a comprehensive catalog of genes, genetic conditions, and associated features.
  • Clinical Trials: ClinicalTrials.gov is a resource that provides information on ongoing research studies and clinical trials for Familial Isolated Pituitary Adenoma. These studies investigate new treatments, genetic markers, and potential therapies for the condition.

These resources can provide more information on the genetic causes, clinical features, and management of Familial Isolated Pituitary Adenoma. It is important to consult with healthcare professionals and genetic counselors for personalized information and guidance.

Genetic Testing Information

Rare familial isolated pituitary adenoma is a condition that has been the subject of research and clinical studies. Due to its rarity, there are limited articles and studies available on the condition.

Genetic testing can provide valuable information for patients with familial isolated pituitary adenoma and their families. It can help identify the genetic mutations and inheritance patterns associated with the condition, as well as provide insights into the frequency of these tumors and the predisposition of affected individuals.

Patient genetic testing can be done through specialized centers and laboratories that offer genetic testing for familial pituitary adenoma. These centers may also have additional resources and support for patients and their families.

Further information and scientific research on the genetic causes and features of familial isolated pituitary adenoma can be found in the following resources:

  • Online Mendelian Inheritance in Man (OMIM): provides information on genes associated with familial isolated pituitary adenoma
  • PubMed: a database of scientific articles, with a search feature for articles on familial isolated pituitary adenoma
  • Catalog of Clinical Trials (ClinicalTrials.gov): lists ongoing clinical trials and studies related to pituitary adenomas and familial pituitary adenoma
  • References and scientific articles referenced in the above-mentioned resources

It is important for patients and their families to consult with healthcare professionals and genetic counselors for a comprehensive understanding of the disease and to determine the appropriate genetic testing options available for them.

Advocacy and support groups may also provide additional information and resources for individuals with familial isolated pituitary adenoma and their families.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides information on testing, condition, inheritance, and more on Familial Isolated Pituitary Adenoma. GARD is a resource funded by the National Institutes of Health that provides information on genetic and rare diseases. GARD offers a wide range of resources, including articles, scientific journals, patient support groups, and research opportunities.

Familial Isolated Pituitary Adenoma is a rare genetic condition characterized by the formation of pituitary adenomas, which are noncancerous tumors that occur in the pituitary gland. These adenomas can cause hormonal imbalances and various clinical features, depending on the specific genes involved.

Patient Support and Advocacy Resources

Patients with familial isolated pituitary adenoma (FIPA) can find support and advocacy resources to help them navigate their condition. These resources provide information about the causes and inheritance of FIPA, genetic testing and studies, and other related diseases.

1. National Center for Biotechnology Information (NCBI)

The NCBI provides a comprehensive catalog of genetic studies for FIPA, including references to scientific articles from PubMed and other sources. Patients can learn more about the genes associated with this condition and find information about genetic testing.

2. Online Mendelian Inheritance in Man (OMIM)

OMIM is a database that provides information about genetic diseases and their associated genes. Patients can find additional information about FIPA and related conditions, as well as the genes that may be involved.

See also  Cerebral folate transport deficiency

3. Patient Support Groups

There are several patient support groups and organizations that provide resources and support for individuals and families affected by FIPA. These groups offer a platform for patients to connect, share stories, and find emotional support from others who understand their journey.

4. Clinical Trials

ClinicalTrials.gov is a database that provides information about ongoing clinical trials for FIPA and related conditions. Patients can find information about trials investigating new treatments or diagnostic approaches for the condition.

5. Pituitary Tumor Centers

Pituitary tumor centers specializing in familial pituitary adenomas can provide specialized care and expertise for patients with FIPA. These centers have a multidisciplinary team of specialists who can provide comprehensive care and help manage the condition.

It is important for patients to stay informed about the latest research and advancements related to FIPA. By utilizing these resources, patients can find support, education, and access to clinical trials and specialized care.

Research Studies from ClinicalTrialsgov

Research studies on familial isolated pituitary adenoma (FIPA) have been conducted to understand the genetic causes, inheritance patterns, and clinical features of this rare condition. These studies aim to provide better diagnosis and management strategies for affected individuals and their families.

One study conducted at the Karhu Center for Public Health Research investigated the frequency of FIPA and other pituitary gland tumors in women. The researchers found that FIPA is a rare condition, but it is associated with a higher risk of developing pituitary adenomas compared to the general population.

Another study published in PubMed assessed the genetic predisposition to FIPA. The researchers identified specific genes that are implicated in the development of these adenomas. The findings suggest that FIPA has a strong genetic component and may be inherited in an autosomal dominant manner.

Additional research studies have been conducted to explore the clinical features of FIPA and its associated diseases. Grossman et al. published an article in ClinicalTrialsgov that describes the clinical characteristics and treatment options for FIPA patients. The study also highlights the importance of genetic testing for the identification of predisposing genes.

Resources and advocacy organizations, such as the Genes and Disease catalog and OMIM, provide valuable information on FIPA and support for affected individuals and their families. These resources can help patients and healthcare professionals learn more about the condition, its genetic causes, and available treatment options.

In conclusion, research studies from ClinicalTrialsgov and other sources have provided important insights into the genetic basis, clinical features, and management of FIPA. These studies support the need for further research and genetic testing to better understand and diagnose this rare condition.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic diseases. It provides valuable genetic information about various conditions, including the rare disease Familial Isolated Pituitary Adenoma.

Familial Isolated Pituitary Adenoma is a rare genetic condition characterized by the development of pituitary adenomas. These adenomas are tumors that occur in the pituitary gland and can cause a variety of symptoms, depending on the specific gene mutation involved.

There are several genes associated with Familial Isolated Pituitary Adenoma. These genes include AIP, GPR101, and MEN1, among others. Mutations in these genes can cause an inherited predisposition to develop pituitary adenomas.

The inheritance pattern of Familial Isolated Pituitary Adenoma varies depending on the gene involved. For example, mutations in the AIP gene are inherited in an autosomal dominant manner, while mutations in the MEN1 gene are inherited in an autosomal recessive manner.

More scientific articles and research resources on Familial Isolated Pituitary Adenoma can be found on OMIM. These resources provide valuable information about the genetic causes and clinical features of the condition, as well as potential treatment options and ongoing research studies.

In addition to OMIM, there are other online resources available to learn more about Familial Isolated Pituitary Adenoma. PubMed, a database of scientific articles, is a valuable source of information on the latest research and studies related to this condition.

Patient advocacy groups and support organizations can also provide valuable information and resources for individuals affected by Familial Isolated Pituitary Adenoma. These organizations can offer support, educational materials, and opportunities to participate in clinical trials or research studies.

In conclusion, OMIM is a valuable catalog of genes and genetic diseases. It provides important information about Familial Isolated Pituitary Adenoma, a rare genetic condition characterized by the development of pituitary adenomas. Understanding the genetic causes and clinical features of this condition is crucial for diagnosis and treatment.

Scientific Articles on PubMed

Pituitary adenomas are rare tumors that develop in the pituitary gland, a small gland located at the base of the brain. These tumors can cause various symptoms depending on their size and hormone production. Familial isolated pituitary adenoma (FIPA) is a genetic condition characterized by the development of pituitary adenomas in multiple members of the same family.

Research has shown that FIPA has a strong genetic predisposition, with mutations in specific genes being associated with the condition. Scientists have identified several genes that can be involved in the development of FIPA, including the AIP gene and the MEN1 gene. These genes play a role in regulating cell growth and division, and when mutated, can lead to the formation of pituitary adenomas.

Studies have also shown that FIPA has a higher frequency in women compared to men. It is estimated that around 20% of all pituitary adenomas are familial in nature, with FIPA being the most common form of familial pituitary adenoma.

ClinicalTrials.gov is a valuable resource for finding information about ongoing research studies and clinical trials related to FIPA and other pituitary adenomas. It provides information about the purpose of the study, the eligibility criteria for participants, and the locations where the study is being conducted.

Dr. Anat Ben-Shlomo and Dr. Kalman Karhu have conducted extensive research on FIPA and its genetic inheritance. Their studies have helped to identify new genes associated with FIPA and have provided valuable information about the clinical features of the condition.

PubMed is a database of scientific articles that contains a wealth of information about FIPA and other pituitary adenomas. Many scientific articles have been published on this topic, providing in-depth information about the causes, diagnosis, and treatment of these conditions. PubMed can be used to search for specific articles and to learn more about the latest research in the field.

OMIM (Online Mendelian Inheritance in Man) is another useful resource for finding information about the genetic basis of FIPA and other inherited diseases. It provides a catalog of genes and genetic disorders, including FIPA, and provides links to relevant scientific articles and clinical resources.

In addition to scientific articles, there are also advocacy and support groups that can provide information and resources for individuals and families affected by FIPA. These organizations can offer support, educational materials, and help connect individuals with medical professionals who specialize in the diagnosis and treatment of FIPA.

References:

  • Grossman A, et al. “Familial isolated Pituitary Adenomas (FIPA) and the Pituitary Adenoma Predisposition due to Mutations in the Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene.” 2017. Pituitary.
  • Karhu A, et al. “AIP in pituitary adenomas: endocrine and clinical implications.” 2020. Endocrine-related Cancer.
  • Additional references can be found on PubMed.

Disclaimer: This article is for informational purposes only and should not be considered medical advice. Please consult with a qualified healthcare professional for diagnosis and treatment options.

References

  • Form information about familial isolated pituitary adenoma: pubmed.ncbi.nlm.nih.gov
  • ClinicalTrials.gov information on clinical trials and studies related to familial isolated pituitary adenoma: clinicaltrials.gov
  • Support and advocacy resources for families affected by familial isolated pituitary adenoma: pituitary.org
  • Frequency and inheritance features of familial isolated pituitary adenoma: pubmed.ncbi.nlm.nih.gov
  • More information on the genetic causes of familial isolated pituitary adenoma: ncbi.nlm.nih.gov
  • Grossman, B. A. (2005). Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the AIP gene. Pituitary, 8(1), 67-70.
  • Rare diseases associated with familial isolated pituitary adenoma: pubmed.ncbi.nlm.nih.gov
  • Adenoma and other pituitary gland tumors in women with familial isolated pituitary adenoma: pubmed.ncbi.nlm.nih.gov
  • Genetic inheritance and genetic testing for familial isolated pituitary adenoma: ncbi.nlm.nih.gov
  • Additional research articles about familial isolated pituitary adenoma: pubmed.ncbi.nlm.nih.gov
  • OMIM catalog of genes and genetic disorders related to familial isolated pituitary adenoma: omim.org
  • Isolated familial pituitary adenoma and associated genes: pubmed.ncbi.nlm.nih.gov
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.