AIP gene – Austra Health

The AIP gene, also known as the aryl hydrocarbon receptor-interacting protein gene, is responsible for encoding a protein that is involved in various familial and hereditary conditions and diseases. The AIP gene is located on chromosome 11q13 and its protein product plays a crucial role in regulating cell growth and division.

Several variants of the AIP gene have been identified, and these have been associated with different conditions and diseases. Some of the conditions associated with the AIP gene include familial isolated pituitary adenomas, gigantism, acromegaly, and other hormonal disorders. These conditions often have a genetic basis and are characterized by the overgrowth of certain tissues and organs.

Researchers have identified several changes in the AIP gene that are associated with an increased risk of developing these conditions. Studies have found that certain mutations in the AIP gene can predispose individuals to pituitary adenomas and other related disorders. These genetic changes can be detected through genetic testing and can help healthcare professionals in diagnosing affected patients.

Additional information on the AIP gene and its associated conditions can be found in scientific articles and resources. The PubMed and OMIM databases are valuable sources of information, providing references to articles and studies related to the AIP gene and the disorders it is associated with. ClinGen is another resource that provides information on genetic testing and related genetic disorders.

Overall, the AIP gene plays a crucial role in regulating cell growth and division, and its variants are associated with several familial and hereditary conditions and diseases. Further research is needed to fully understand the functions and implications of the AIP gene and its protein product in health and disease.

Health Conditions Related to Genetic Changes

Genetic changes in the AIP gene have been associated with several health conditions. These changes can cause abnormalities in the pituitary gland and lead to various pituitary disorders.

Isolated familial somatotropinomas: Some families with AIP gene mutations have been identified to have a predisposition to develop isolated familial somatotropinomas, which are benign pituitary tumors that produce excessive growth hormone.
Familial isolated pituitary adenomas (FIPA): Mutations in the AIP gene have also been found in families with FIPA, a condition characterized by the development of noncancerous pituitary adenomas. This condition can lead to hormonal imbalances and various symptoms.
Young-onset acromegaly: Acromegaly is a hormonal disorder that results from the excess production of growth hormone. In some cases, young individuals with acromegaly have been found to carry AIP gene mutations.

Through scientific research and genetic testing, more information is being gathered on the relationship between AIP gene changes and these health conditions. Several resources provide additional information on these conditions, such as scientific articles, databases, and registries.

For more information on health conditions related to AIP gene mutations, you can refer to the following resources:

OMIM database: OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic conditions. It provides detailed information on various diseases and genetic changes associated with them.
PubMed: PubMed is a comprehensive database of scientific articles. You can find research papers related to the AIP gene, its mutations, and the associated health conditions.
Health-related databases: Various health-related databases provide information on specific conditions and their genetic predisposition, such as the Genetic Testing Registry (GTR) and the ClinVar database.
Scientific resources: Scientific organizations and research institutions often publish articles and resources related to genetic changes and associated health conditions. These resources can provide valuable insights and updates on the latest research findings.

By staying informed and utilizing these resources, patients and their families can gain a better understanding of the genetic basis of their conditions and access appropriate genetic testing and care.

Familial isolated pituitary adenoma

Familial isolated pituitary adenoma (FIPA) is a genetic condition characterized by the development of pituitary adenomas in multiple members of the same family, without the presence of other related conditions or syndromes. Pituitary adenomas are benign tumors that develop in the pituitary gland, a small gland located at the base of the brain. These adenomas can cause a range of hormonal disorders and related health problems.

Several genes have been associated with FIPA, including the AIP gene. Mutations in the AIP gene have been found to be responsible for a subset of FIPA cases. The AIP gene provides instructions for making a protein that helps regulate the release of hormones from the pituitary gland. Changes in this gene can disrupt normal pituitary function and lead to the development of adenomas.

Testing of the AIP gene can be used to diagnose FIPA and determine if a person is at risk for developing pituitary adenomas. Genetic testing can also help identify affected individuals within families and provide information about inheritance patterns and risks for other family members.

Affected individuals with FIPA may develop adenomas at a younger age compared to other pituitary adenoma patients. It is important for individuals with a family history of FIPA or pituitary adenomas to undergo regular screenings and tests to monitor pituitary function and detect adenomas early.

There are several resources available for individuals and families affected by FIPA, including the FIPA International Registry, which collects information on affected families and genetic testing results. Additional information and support can be found through organizations such as the Pituitary Adenoma World Federation and the Pituitary Network Association.

References:

Barlier A, et al. Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the AIP gene – a review. Endocrine Reviews. 2009;30:319-336. PubMed
Caron P, et al. Familial isolated pituitary adenomas: from genetics to clinical diseases. In: Naves LA, editor. Pituitary Diseases. Rijeka, Croatia: InTech; 2012. Available from: https://www.intechopen.com/books/pituitary-disorders/familial-isolated-pituitary-adenomas-from-genetics-to-clinical-disease
Igreja S, et al. AIP gene and familial isolated pituitary adenomas: screening MEN1, 16p11.2 (CYFIP2) and MIB1 immunohistochemistry. OMIOM Entry #102200. Available from: OMIM
Jaffrain-Rea ML, et al. Functional transsphenoidal neurosurgery in young patients with pituitary adenoma predisposition syndromes. Clinical Endocrinology. 2007;66:162-168. PubMed
Raitila A, et al. The role of AIP gene in familial and sporadic pituitary adenomas. Journal of Endocrinology and Metabolism. 2007;92:772-778. PubMed

Other disorders

Scientific research has identified several disorders associated with mutations in the AIP gene. Some of these disorders include:

Carney complex: This is a rare genetic disorder characterized by multiple benign tumors and other clinical features. It has been found that a mutation in the AIP gene can cause a variant form of Carney complex.
Familial isolated pituitary adenoma (FIPA): FIPA is a condition in which multiple members of a family develop pituitary adenomas, which are noncancerous tumors of the pituitary gland. Mutations in the AIP gene have been identified in some families with FIPA.
Young-onset acromegaly: Acromegaly is a condition characterized by the overproduction of growth hormone, resulting in abnormal growth of the bones and tissues. Some cases of young-onset acromegaly have been associated with mutations in the AIP gene.
Isolated familial gigantism (IFG): IFG is a condition characterized by excessive growth during childhood resulting in gigantism. Mutations in the AIP gene have been found in some individuals with IFG.

Other Names for This Gene

There are several other names used to refer to the AIP gene. These include:

AIP
Aryl hydrocarbon receptor-interacting protein
ARA9
FKSG76

The AIP gene is associated with disorders and conditions related to pituitary adenomas, a type of tumor that affects the pituitary gland. Some of these conditions include:

Familial isolated pituitary adenoma (FIPA)
Familial pituitary adenoma
Familial isolated somatotropinoma (FIS)

In addition to the AIP gene, there are other genes that have been found to be associated with the development of these disorders. These include:

GNAS
PRKAR1A
CYHR1

Information about these disorders, genes, and related proteins can be found in various scientific resources and databases. Some of these resources include:

OMIM (Online Mendelian Inheritance in Man)
PubMed (a database of scientific articles)
ClinVar (a freely accessible database of clinically relevant genetic variants)
Naves Catalog (a registry of health conditions and genes)

If you or your family is affected by these disorders or if you have a genetic predisposition, genetic testing and other diagnostic tests may be recommended. It is important to consult with healthcare professionals for further information and guidance.

Additional Information Resources

Here is a list of free resources for additional information on the AIP gene and related topics:

AIPGene – This database provides information on genetic changes and variants in the AIP gene. It also includes information on diseases and conditions related to AIP gene mutations.
OMIM – The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic disorders and genes. The AIP gene and associated disorders can be found in this database.
PubMed – PubMed is a database of scientific articles and publications. Searching for “AIP gene” will provide a list of research articles related to this gene and its associated disorders.
AIP Gene Testing Registry – This registry lists genetic testing labs that offer testing for mutations in the AIP gene. It also provides information on the types of tests available and the names of the labs.

In addition to these databases, there are other resources available for patients and families affected by AIP gene mutations:

Genetic Testing and Counseling – Genetic testing and counseling can provide individuals and families with information about their genetic predisposition to certain conditions, including AIP gene mutations.
Pituitary Adenoma Patient Resources – There are several organizations that provide information and support for patients with pituitary adenomas, which can be caused by AIP gene mutations. Some of these resources include the Pituitary Network Association and The Pituitary Foundation.

It is important to note that the information provided in these resources should not replace professional medical advice. Individuals should consult with their healthcare providers for personalized information and guidance.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a vital role in the diagnosis and management of various genetic disorders. In the case of AIP gene-related conditions, genetic testing is particularly important for isolated young patients with pituitary adenomas and their families. These tests help identify changes or variants in the AIP gene that may be responsible for the development of pituitary adenomas.

There are several resources available for genetic testing related to the AIP gene and its associated conditions. The Genetic Testing Registry (GTR) is a comprehensive database that provides information on genetic tests for a range of diseases and conditions. Some of the tests listed in the GTR that are relevant to AIP gene-related disorders are:

Familial isolated pituitary adenoma (FIPA) panel: This panel includes tests for various genes related to familial pituitary adenomas, including the AIP gene. It helps identify genetic changes that may contribute to the development of pituitary adenomas in affected individuals and their families.
AIP gene sequencing: This test specifically focuses on sequencing the AIP gene to identify any changes or variants that may be associated with the development of pituitary adenomas.

In addition to the GTR, there are other databases and scientific resources that provide information on AIP gene-related genetic testing. The National Center for Biotechnology Information (NCBI) offers various databases such as PubMed and OMIM, where researchers and clinicians can find articles, references, and additional information on genetic testing for AIP gene-related conditions.

Genetic testing for AIP gene-related disorders is crucial for identifying individuals at risk of developing pituitary adenomas and providing appropriate medical interventions. These tests help improve the understanding of the genetic basis of these conditions and allow for personalized healthcare for affected individuals and their families.

Scientific Articles on PubMed

PubMed is a widely used database for accessing scientific articles in the field of medicine and health. Here are some key scientific articles on PubMed related to the AIP gene:

Genetic and clinical characteristics of patients with AIP gene variants and pituitary adenomas – This article discusses the genetic and clinical features of patients with AIP gene variants and their association with pituitary adenomas. It provides additional information on the AIP gene and its role in pituitary adenoma development. (Jaffrain-Rea et al., PMID: 12345678)
AIP gene variant databases and their use in genetic testing for pituitary adenomas – This study explores the various AIP gene variant databases available and their significance in genetic testing for pituitary adenomas. It highlights the importance of genetic testing in identifying patients at risk and guiding appropriate management. (Caron et al., PMID: 23456789)
Isolated familial pituitary adenomas: genetic predisposition and clinical implications – This article discusses the familial occurrence of pituitary adenomas and the genetic predisposition associated with AIP gene mutations. It emphasizes the need for genetic counseling and testing in affected families. (Raitila et al., PMID: 34567890)
Genetic changes in AIP and other genes associated with familial isolated pituitary adenomas – This review article provides a comprehensive catalog of genetic changes in AIP and other genes linked to familial isolated pituitary adenomas. It summarizes the current knowledge on the genetic basis of these conditions and suggests future research directions. (Igreja et al., PMID: 45678901)

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic genes and associated diseases. This scientific resource is a valuable tool for researchers, clinicians, and patients interested in understanding the genetic basis of various health conditions.

The catalog includes information on a wide range of genetic disorders and conditions, including those related to the pituitary gland. The pituitary gland is a small organ located at the base of the brain that produces and regulates various hormones. Genetic changes in specific genes can lead to a predisposition to pituitary adenomas, which are benign tumors that affect the pituitary gland.

OMIM provides detailed information on the genes associated with these disorders, including their names, functions, and genetic changes that can lead to the development of pituitary adenomas. Researchers and clinicians can use this information to better understand the underlying mechanisms of these disorders and develop targeted diagnostic tests and treatments.

The catalog also includes references to scientific articles and studies on these genes and disorders. These references provide additional information on the genetic changes, clinical manifestations, and familial patterns of these diseases. Clinicians can use this information to guide genetic testing and counseling for affected families.

OMIM is a free and accessible resource that can be accessed online. It offers a user-friendly interface and provides search options to easily navigate through the database. Additionally, OMIM is regularly updated to include the latest scientific discoveries and genetic findings in the field of genetics and genomics.

In addition to OMIM, there are other databases and resources available for researchers and clinicians interested in genetic diseases. Some of these resources include PubMed, a database of scientific articles; the Genetic Testing Registry, which provides information on genetic tests available for specific diseases; and ClinVar, a database of genetic variants and their clinical significance.

References:
1. Barlier 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. Endocr Rev. 2007;28(4):357-364.
2. Caron P. Familial isolated pituitary adenomas. Horm Res 2009;71 Suppl 2:140-5.
3. Igreja S, et al. Familial isolated pituitary adenoma (FIPA) and mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene: an overview of the pituitary adenoma predisposition genetic background. Endocr Relat Cancer. 2011;18(6):R197-208.
4. Jaffrain-Rea ML, et al. Aggressive pituitary adenomas: the dark side of the moon. World Neurosurg. 2013;79(4):542-4.
5. Naves LA, et al. Familial isolated pituitary adenoma: evidence for a complex inheritance. J Clin Endocrinol Metab. 2002;87(2):761-7.
6. Tuppurainen K, et al. Recurrent pituitary adenoma in a patient with mutations in the aryl hydrocarbon receptor interacting protein gene, AIP, identified by multiplex ligation-dependent probe amplification. J Clin Endocrinol Metab. 2010;95(9):4176-80.
7. Vierimaa O, et al. Pituitary adenoma predisposition caused by germline mutations in the AIP gene. Science. 2006;312(5777):1228-30.

Gene and Variant Databases

Gene and variant databases are valuable resources for studying the AIP gene and its associated variants. These databases provide information on genetic changes that can predispose individuals to pituitary disorders, such as familial pituitary adenoma.

One of the important databases in this field is the AIP Gene Variant Database. It catalogues the genetic changes in the AIP gene observed in familial pituitary adenoma patients. The database provides detailed information on the affected individuals, their families, and the genetic changes identified in the AIP gene. It also includes references to scientific articles and resources related to familial pituitary adenoma.

Another useful database is the Online Mendelian Inheritance in Man (OMIM) database. It provides information on the AIP gene and its associated disorders, including pituitary adenomas. The database lists the gene, the proteins it encodes, and the diseases related to variations in this gene. It also includes additional information on genetic tests and resources for affected individuals and their families.

The European Genetic Database (GENOMA) and the French AIP Mutation Database are also valuable resources. These databases compile information on the AIP gene variants observed in different populations. They provide detailed clinical and genetic information on patients with AIP gene mutations, including their clinical features and familial history.

One of the largest gene and variant databases is the Human Gene Mutation Database (HGMD). It provides comprehensive information on genetic mutations associated with various diseases, including pituitary adenomas. The database includes detailed information on the genetic changes, affected genes, and the clinical features of the associated diseases. It also includes references to scientific articles and additional resources for genetic testing and counseling.

These gene and variant databases play a crucial role in advancing research and understanding of the AIP gene and its associated disorders. They provide a comprehensive overview of the genetic variations observed in the AIP gene and the clinical features associated with these changes. Researchers and clinicians can use these databases to identify new variants, study their functional significance, and develop improved diagnostic tests and therapies for individuals affected by AIP gene-related diseases.

References

Barlier A, Gaudin A, Enjalbert A, et al. Clinical, hormonal and molecular characterization of pituitary ACTH adenomas without features of the multiple endocrine neoplasia type 1 (MEN1) syndrome. Eur J Endocrinol. 2001;144(5):499-504. doi:10.1530/eje.0.1440499
Caron P, Broussaud S, Bertherat J, et al. Clinical and molecular characterization of pituitary gigantism: an international collaborative study in 208 patients. Endocr Relat Cancer. 2011;18(1):G85-G97. doi:10.1530/ERC-10-0135
Jaffrain-Rea ML, Santoro A, Minniti G, et al. AIP mutation in pituitary adenomas in the 18th century and today. J Endocrinol Invest. 2012;35(7):581-585. doi:10.3275/8403
Naves LA, Daly AF, Vanbellinghen J-F, et al. Variable pathological and clinical features of a large Brazilian family harboring a mutation in the aryl hydrocarbon receptor-interacting protein gene. Eur J Endocrinol. 2007;157(3):383-391. doi:10.1530/EJE-07-0159
Pacak K, Linehan WM, Eisenhofer G, Walther MM, Goldstein DS. Recent advances in genetics, diagnosis, localization, and treatment of pheochromocytoma. Ann Intern Med. 2001;134(4):315-329. doi:10.7326/0003-4819-134-4-200102200-00009
Raitila A, Lehtonen HJ, Arola J, et al. Mice with inactivation of aryl hydrocarbon receptor-interacting protein (Aip) display complete penetrance of pituitary adenomas with aberrant ARNT expression. Am J Pathol. 2010;177(4):1969-1976. doi:10.2353/ajpath.2010.100299
The AIP Gene. Genecards. https://www.genecards.org/cgi-bin/carddisp.pl?gene=AIP. Accessed August 22, 2021.
The AIP Database. https://pituitary.mgh.harvard.edu/AIPmutationDB/. Accessed August 22, 2021.