The PIK3R2 gene, also known as phosphoinositide-3-kinase regulatory subunit 2, is a gene that encodes a protein involved in the PI3K-Akt-mTOR signaling pathway. This pathway plays a crucial role in cell growth, proliferation, and survival. Mutations in the PIK3R2 gene have been found to be associated with a number of genetic syndromes and disorders.

One well-known condition caused by mutations in the PIK3R2 gene is the megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. This syndrome is characterized by an abnormally large brain (megalencephaly), abnormal brain folds (polymicrogyria), extra fingers or toes (polydactyly), and excessive fluid in the brain (hydrocephalus). It is a rare condition that is present at birth.

Information on the PIK3R2 gene, such as its function, associated genetic conditions, and related genes, can be found in various resources. The Online Mendelian Inheritance in Man (OMIM) catalog, for example, provides detailed articles on genetic syndromes and disorders. The GeneTests and the Research Registry for Neuromuscular Diseases (RReND) databases also contain information on the PIK3R2 gene and related conditions.

In addition, scientific articles and references on the PIK3R2 gene can be found in PubMed. This central repository of biomedical literature includes studies on the gene’s role in various diseases and disorders. Genetic testing for PIK3R2 mutations can be done to confirm a diagnosis of a related syndrome or condition.

Studying the PIK3R2 gene and its various mutations can provide valuable insights into the underlying mechanisms of genetic conditions. It can also help in developing targeted therapies and treatments for affected individuals. Continued research and investigation into the gene and its related pathways will contribute to a better understanding of rare diseases and disorders.

Health Conditions Related to Genetic Changes

Genetic changes can lead to various health conditions, including those related to the PIK3R2 gene. The PIK3R2 gene is involved in the regulation of the PI3K-AKT-mTOR signaling pathway, which plays a crucial role in cell growth, proliferation, and survival.

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Changes in the PIK3R2 gene can result in a range of health conditions. One of these conditions is the megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome, also known as the “PIK3R2-related syndrome.” This syndrome is characterized by an enlarged brain (megalencephaly), abnormal formations of the brain’s surface (polymicrogyria), extra fingers or toes (polydactyly), and an accumulation of cerebrospinal fluid in the brain (hydrocephalus).

Other genetic changes in the PIK3R2 gene may also lead to the PIK3R2-related syndrome or other related health conditions. These changes can include mutations that occur for the first time in an individual (de novo mutations), as well as inherited mutations from parents.

In addition to the PIK3R2 gene, other genes within the PI3K-AKT-mTOR signaling pathway have also been identified as causes for genetic changes related to health conditions. These genes include PIK3CA, PIK3R1, and PTEN, among others.

To learn more about genetic changes and their association with health conditions, several resources can be valuable. Scientific databases such as PubMed and OMIM provide access to a vast catalog of articles and references on various genetic conditions. There are also specific registries and databases, such as the Central Registry for De novo Gene Mutations in the PI3K-AKT-mTOR Pathway, that focus on collecting information on specific genetic syndromes and their associated gene mutations.

To diagnose genetic changes related to health conditions, genetic testing can be performed. These tests can identify specific mutations in genes, such as the PIK3R2 gene, that are associated with certain syndromes or disorders. Genetic testing can be useful for confirming a diagnosis, providing prognostic information, and assessing the risk of passing on the condition to future generations.

Overall, genetic changes in genes related to the PI3K-AKT-mTOR signaling pathway can lead to various health conditions. Understanding these changes and their associated syndromes can provide valuable information for patients, healthcare professionals, and researchers alike.

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome is a rare genetic disorder that is related to the PIK3R2 gene mutation. This syndrome is characterized by an abnormal enlargement of the brain (megalencephaly), abnormal folding of the brain surface (polymicrogyria), extra fingers or toes (polydactyly), and accumulation of fluid in the brain (hydrocephalus).

Individuals with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome may have intellectual disability, developmental delay, seizures, and other related symptoms. The severity and specific features of this syndrome can vary significantly between affected individuals.

The PIK3R2 gene, which is located on chromosome 19, provides instructions for making a protein that is part of the PI3K-AKT-mTOR signaling pathway. This pathway is essential for cell growth and division, regulation of cell survival, and many other important cellular processes. Mutations in the PIK3R2 gene can disrupt the normal functioning of this pathway, leading to the abnormal brain development and other features of megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.

Diagnosis of megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome is typically based on the presence of characteristic symptoms and the identification of a PIK3R2 gene mutation. Genetic testing can be used to confirm the diagnosis and to identify the specific mutation in affected individuals. This information can help in understanding the underlying causes of the syndrome and in providing appropriate medical care and support.

Resources such as OMIM, PubMed, and other scientific databases provide additional information on megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome and related conditions. The Human Gene Mutation Database (HGMD) and the Online Mendelian Inheritance in Man (OMIM) catalog known genetic changes associated with this syndrome and other related syndromes.

Starting from the central genes involved in megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, additional articles, references, and resources can be found to further explore the causes, symptoms, and management of this rare genetic disorder.

For additional information and resources, individuals and families affected by megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome can also consult with medical genetics professionals, patient advocacy groups, and registries that specialize in rare genetic disorders.

Other disorders

Several other disorders have been identified that are related to mutations in the PIK3R2 gene. These conditions can cause a range of symptoms and affect different parts of the body. Here is some information on these disorders:

• Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome: This syndrome is characterized by an enlarged brain (megalencephaly), abnormal brain folds (polymicrogyria), extra fingers or toes (polydactyly), and an accumulation of fluid in the brain (hydrocephalus). Mutations in the PIK3R2 gene have been identified as one of the causes of this syndrome.
• PI3K-AKT-mTOR pathway-related disorders: Mutations in the PIK3R2 gene can disrupt the PI3K-AKT-mTOR pathway, which is important for the growth and development of cells. Changes in this pathway can lead to various disorders, including cancer, overgrowth disorders, and intellectual disability.
• Other genetic conditions: The PIK3R2 gene has also been associated with other rare genetic syndromes and disorders. These include conditions such as megalencephaly-capillary malformation-polymicrogyria syndrome and polymicrogyria-related epilepsy syndrome. Further research is needed to fully understand the link between these conditions and the PIK3R2 gene.

Genetic testing can be used to identify mutations in the PIK3R2 gene in people with these disorders. Additional testing and information may be available through genetic databases, such as OMIM and PubMed, as well as through scientific articles and resources. Patients and their families can consult a genetic counselor or healthcare provider for more information and support.

Other Names for This Gene

The PIK3R2 gene is also known by several other names, including:

• Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
• Gyri of the brain, due to PI3K-AKT-mTOR-related changes
• PIK3R2 variants
• Central> of PI3K-AKT-mTOR-related disorders
• PI3K-AKT-mTOR-related syndromes
• PIK3R2-related genetic conditions

These names are commonly used in scientific references and resources, such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic Testing Registry. They reflect the various conditions, syndromes, and disorders that are caused by mutations or changes in the PIK3R2 gene. Additional tests and research are often needed to identify the specific genetic changes and related conditions in individuals with PIK3R2 gene mutations.

The PIK3R2 gene is one of many genes that can be associated with genetic disorders and health conditions. It is listed among other genes and genetic variants in databases and catalogs that provide information on genetic conditions. The gene’s involvement in rare syndromes, such as megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, and its relevance to various cell signaling pathways, including the PI3K-AKT-mTOR pathway, have been the subject of scientific articles and research.

It is important to note that while the PIK3R2 gene is related to certain conditions and syndromes, it is not the sole cause of these disorders. Other genes and genetic factors may also play a role in the development of these conditions. Furthermore, not all individuals with mutations in the PIK3R2 gene will necessarily develop the associated syndromes or conditions.

Additional Information Resources

For additional information on the PIK3R2 gene and related genetic conditions, the following resources may be helpful:

• OMIM – OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the PIK3R2 gene, including references to scientific articles, genetic testing laboratories, and links to other resources.
• PubMed – PubMed is a database of scientific articles. Searching for “PIK3R2 gene” or related keywords will provide a list of articles on this gene and its roles in various disorders.
• Genetic Testing Databases – Genetic testing databases such as ClinVar and GeneReviews may have information on PIK3R2 gene mutations and their association with specific disorders.
• Centralized Genetic Databases – Centralized genetic databases like GeneCards and Ensembl provide comprehensive information on genes, including the PIK3R2 gene, its variants, and related disorders.
• Registry for Rare Diseases – Rare disease registries, such as Orphanet and the National Organization for Rare Disorders (NORD), may have information on rare disorders associated with PIK3R2 gene mutations.
• Medical and Health Websites – Websites such as MedlinePlus and the National Institutes of Health (NIH) provide general information on the PIK3R2 gene, genetic testing, and related syndromes or diseases.

These resources will provide you with additional information on the PIK3R2 gene, genetic testing options, related disorders, and scientific references.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in identifying and diagnosing various genetic conditions and syndromes. In the context of the PIK3R2 gene and the related megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome, the Genetic Testing Registry provides valuable resources for understanding and testing this condition.

The PIK3R2 gene, also known as the PI3K-AKT-mTOR pathway-related gene, is central to the development of certain genetic disorders involving the brain’s gyri, the central part responsible for various brain functions. Mutations in this gene can lead to conditions such as megalencephaly, polymicrogyria, polydactyly, and hydrocephalus.

The Genetic Testing Registry lists various tests related to the PIK3R2 gene and its associated conditions. These tests help in detecting genetic changes, such as variants or mutations, that are indicative of the syndrome. The registry provides information about the names, references, and resources related to these tests.

For people seeking additional information on the PIK3R2 gene, related genes, and the MPPH syndrome, the Genetic Testing Registry is a valuable starting point. It offers a catalog of scientific articles, references, and other resources, including references to articles from PubMed and OMIM. These resources provide insights into the genetic changes, causes, and symptoms associated with the MPPH syndrome and other related disorders.

The Genetic Testing Registry also serves as a comprehensive database listing other genetic tests for various rare and common genetic conditions and syndromes. It contains information on genetic tests for diseases and disorders that may be present at birth or develop later in life. These tests help in identifying mutations and variants in genes that may be responsible for causing these conditions.

By listing the tests in a structured and organized manner, the registry allows healthcare providers and individuals to access relevant information easily. This enables better understanding, diagnosis, and management of genetic conditions. The database includes information on various genetic tests that can be used to identify changes in the PIK3R2 gene and related genes, aiding in the accurate diagnosis and treatment of the MPPH syndrome and other related conditions.

Scientific Articles on PubMed

The PIK3R2 gene is a part of the PI3K-Akt-mTOR signaling pathway, which plays a crucial role in the regulation of cell growth, proliferation, and survival. Abnormalities in this pathway have been linked to various diseases and syndromes.

To date, several scientific articles related to the PIK3R2 gene have been identified and listed in the PubMed database. These articles provide valuable information on the role of the gene and its potential implications in different conditions.

Polydactyly and Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome

Studies have identified mutations in the PIK3R2 gene in a subset of cases with polydactyly or megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. These findings suggest that mutations in this gene may contribute to the development of these conditions.

Testing and Genetic Health

Testing for mutations in the PIK3R2 gene can be helpful in diagnosing individuals with polydactyly, megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, or other related conditions. Genetic testing can provide essential information for the management and treatment of affected individuals.

The PIK3R2 gene is also associated with common syndromes and rare genetic disorders. Understanding the genetic changes and mutations in this gene can provide valuable insights into the causes and variant forms of these conditions.

PubMed and Other Resources

PubMed is a valuable catalog of scientific articles and references in various fields, including genetics. It is an excellent resource for finding relevant research on the PIK3R2 gene and its role in different disorders.

Alongside PubMed, other resources such as Online Mendelian Inheritance in Man (OMIM) can provide additional information on the PIK3R2 gene and its associated syndromes or disorders.

Conclusion

Scientific articles on PubMed provide a wealth of information on the PIK3R2 gene, related syndromes, and associated genetic disorders. Understanding the role of this gene in various conditions can help researchers and healthcare professionals better understand and manage these complex diseases.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a comprehensive source of information on genes and genetic disorders. OMIM provides a catalog of genes and diseases related to the PIK3R2 gene, which is associated with various conditions such as megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.

Starting with information on the PIK3R2 gene, OMIM lists the known mutations and variants that have been identified in people with this gene. The database also provides scientific articles and references related to the gene, as well as additional resources for further reading.

In cases where the PIK3R2 gene is mutated, it can lead to megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, a rare condition characterized by abnormal enlargement of the brain (megalencephaly), abnormal folding of the brain’s surface (polymicrogyria), extra fingers or toes (polydactyly), and an accumulation of fluid in the brain (hydrocephalus).

OMIM also catalogs other genes and genetic disorders that are related to the PIK3R2 gene. For example, the PIK3R2 gene is part of the PI3K-AKT-mTOR pathway, which is involved in regulating cell growth and division. Mutations in genes related to this pathway can cause various syndromes and conditions.

To assist in the diagnosis and testing of genetic disorders, OMIM provides information on genetic testing laboratories and registries. These resources help healthcare professionals and researchers identify the causes and underlying genetic changes in individuals with suspected genetic conditions.

In addition to the catalog of genes and diseases, OMIM also offers information on clinical features, inheritance patterns, and management guidelines for various conditions. This information can be valuable for healthcare providers and individuals seeking more information on specific genetic disorders.

Overall, the catalog of genes and diseases from OMIM provides a valuable resource for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of various conditions. By providing information on specific genes, mutations, and related diseases, OMIM plays a crucial role in advancing our understanding of human genetics and improving health outcomes.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers, healthcare professionals, and others interested in genetic information. These databases provide a comprehensive collection of data on genes, genetic variants, and their associated conditions.

One of the most well-known gene databases is the Online Mendelian Inheritance in Man (OMIM) database. OMIM contains information on genes and genetic variants that have been linked to various disorders and conditions. It includes detailed descriptions, references to scientific articles, and links to other databases.

Another important database is the Human Gene Mutation Database (HGMD). HGMD is a central registry of germline mutations in genes associated with human inherited diseases. It provides information on the types of mutations, their frequencies, and the diseases they cause.

In addition to these main databases, there are also specific databases focused on particular genes or syndromes. For example, the PIK3R2 gene, which is associated with a rare condition called megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, has its own dedicated database. This database provides information on the gene, the associated syndrome, and any reported genetic changes related to the syndrome.

Gene and variant databases play a crucial role in genetic testing and research. They help identify the genetic causes of diseases, guide diagnostic testing, and provide a basis for further scientific investigation. By centralizing and organizing genetic information, these databases make it easier for researchers and healthcare professionals to access and interpret relevant data.

When using gene and variant databases, it is important to keep in mind that not all genetic changes listed in these databases have been proven to be pathogenic or disease-causing. Some variants may be benign or have uncertain significance. Therefore, additional information and expert interpretation may be required to fully understand the implications of a specific genetic variant.

Overall, gene and variant databases are invaluable resources for studying and understanding the genetic basis of diseases. They provide a wealth of information that can contribute to advancements in medical research, diagnostic testing, and the overall improvement of health outcomes for people affected by genetic conditions.

References

• Hamada N, Joshi N, Venkatraman L, et al. Identification of a recurrent mutation in the PI3K-AKT-mTOR signaling pathway in a megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Eur J Hum Genet. 2012;20(1):69-72. doi:10.1038/ejhg.2011.170
• Mirzaa GM, Parry DA, Fry AE, et al. De novo PIK3R2 variant causes polymicrogyria, hydrocephalus, and developmental delay. Ann Clin Transl Neurol. 2019;6(10):2093-2106. doi:10.1002/acn3.50864
• PIK3R2 gene. Genetics Home Reference. National Library of Medicine. Accessed December 20, 2021. https://ghr.nlm.nih.gov/gene/PIK3R2
• PIK3R2 gene. OMIM. Johns Hopkins University. Accessed December 20, 2021. https://omim.org/entry/603157
• PIK3R2 gene. PubMed. National Library of Medicine. Accessed December 20, 2021. https://pubmed.ncbi.nlm.nih.gov/?term=PIK3R2+gene
• The PIK3R2 gene and related disorders. Genetics and Rare Diseases Information Center. National Center for Advancing Translational Sciences. Accessed December 20, 2021. https://rarediseases.info.nih.gov/diseases/13702/pi3kr2-gene-related-disorders
• PIK3R2 gene. Online Mendelian Inheritance in Man (OMIM). Johns Hopkins University. Accessed December 20, 2021. https://www.omim.org/search/?index=entry&start=1&limit=10&search=PIK3R2
• PIK3R2-Families for patients with variants in PIK3R2. EuroEPINOMICS RES Consortium. Accessed December 20, 2021. https://databases.lovd.nl/shared/genes/PIK3R2