The PIK3R1 gene, also known as PI3K-delta, is a key gene involved in cellular signaling and plays a crucial role in various biological processes. It is primarily associated with the regulation of the phosphoinositide 3-kinase (PI3K) signaling pathway, which is important for cell growth, proliferation, and survival.
One of the primary functions of the PIK3R1 gene is to form a component of the PI3K signaling complex, which is responsible for transmitting signals from cell surface receptors to activate this pathway. This genetic anomaly is associated with a number of health conditions and diseases, including certain cancers, immune system disorders, and developmental anomalies.
Individuals with mutations in the PIK3R1 gene may exhibit various signs and symptoms, including hyperextensibility of joints, central nervous system anomalies, ocular anomalies, and growth delay. These symptoms can vary widely and may be categorized as primary or secondary to other conditions.
There is ongoing research on the PIK3R1 gene and its role in different diseases and conditions, and scientific articles and resources related to this gene are available in databases like PubMed and OMIM. Several genetic tests are also available to detect changes or variants in the PIK3R1 gene, allowing for early detection and personalized treatment options for individuals with associated conditions.
In conclusion, the PIK3R1 gene is a crucial regulator of the PI3K signaling pathway and is associated with various diseases and anomalies. Further research and testing are needed to fully understand the role of this gene and its potential implications for human health.
Health Conditions Related to Genetic Changes
The PIK3R1 gene is involved in regulating the activity of an enzyme called PI3K-delta. Genetic changes in this gene can lead to the development of various health conditions. Some of the health conditions associated with PIK3R1 gene changes are:
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- Cancers: Genetic changes in the PIK3R1 gene have been linked to the development of certain types of cancers, such as colorectal cancer, ovarian cancer, and breast cancer.
- Ocular conditions: Changes in the PIK3R1 gene have also been associated with ocular anomalies, including Rieger anomaly, which affects the development of the eye, and ocular hernia.
- Short stature and delayed teething: Some individuals with genetic changes in the PIK3R1 gene may experience short stature and delayed teething.
- Depression: There is some evidence suggesting that PIK3R1 gene changes may be associated with an increased risk of depression.
These health conditions are classified as primary diseases related to PIK3R1 gene changes. It is important to note that additional research is needed to fully understand the impact of these genetic changes on health.
Genetic testing can help identify these changes in the PIK3R1 gene and assist in diagnosing related conditions. Testing may include DNA sequencing and other laboratory tests to analyze the PI3K-delta activity and detect the variant genes.
Scientific articles and references listed in databases like PubMed and OMIM provide additional resources for studying the health conditions associated with PIK3R1 gene changes. These resources can help researchers and healthcare professionals gain a better understanding of the genetic basis of the diseases.
Activated PI3K-delta syndrome
The Activated PI3K-delta syndrome is a rare genetic disorder associated with mutations in the PIK3R1 gene. It is also known as APDS and causes a range of signs and symptoms.
People with Activated PI3K-delta syndrome may experience delayed teething, hyperextensibility of joints, and certain facial features such as a long face and depressed nasal bridge. They may also have short stature and experience frequent infections.
The PIK3R1 gene provides instructions for making a protein called PI3KR1, which is part of a signaling pathway known as PI3K. This pathway helps regulate cell growth and division. Mutations in the PIK3R1 gene can alter this pathway, leading to the overactivation of PI3K signaling.
The Activated PI3K-delta syndrome is inherited in an autosomal dominant pattern, which means that a mutation in one copy of the gene is sufficient to cause the disorder.
Diagnosis of Activated PI3K-delta syndrome is based on clinical evaluation, family history, and genetic testing. Several databases and registries, such as OMIM and PubMed, provide additional information on this syndrome and related articles.
Treatment for Activated PI3K-delta syndrome focuses on managing the symptoms and associated conditions. For example, recurrent infections may be treated with antibiotics, and growth hormone therapy may be used to improve stature in some cases.
In addition to Activated PI3K-delta syndrome, mutations in the PIK3R1 gene have been associated with other conditions, including ocular anomalies and certain cancers. However, more research is needed to fully understand these relationships.
Overall, Activated PI3K-delta syndrome is a rare genetic disorder caused by mutations in the PIK3R1 gene. It affects multiple systems in the body and can lead to a range of signs and symptoms. Resources such as genetic testing, medical databases, and scientific articles can provide valuable information for individuals and families affected by this syndrome.
Short stature hyperextensibility hernia ocular depression Rieger anomaly and teething delay
The term “Short stature hyperextensibility hernia ocular depression Rieger anomaly and teething delay” refers to a group of symptoms and conditions that are related to mutations or alterations in the PIK3R1 gene. PIK3R1, also called PI3K-delta, is a gene that provides instructions for making a protein that is part of the PI3K (phosphoinositide 3-kinase) signaling pathway.
The PI3K pathway plays a crucial role in regulating cell growth, division, and survival. Mutations or changes in the PIK3R1 gene can disrupt this pathway and lead to a variety of health issues.
Individuals with mutations in the PIK3R1 gene may exhibit short stature, hyperextensibility (abnormally increased elasticity of the skin or joints), hernia, ocular depression (depressed or sunken appearance of the eyes), Rieger anomaly (abnormal development of the eye’s anterior segment), and teething delay.
These symptoms are classified as PIK3R1-related syndrome, a genetic disorder that affects multiple body systems. The exact mechanisms through which PIK3R1 mutations cause these symptoms are still being studied.
For individuals with suspected PIK3R1-related syndrome, genetic testing is available. These tests can identify mutations or variants in the PIK3R1 gene and can help in confirming the diagnosis. Resources such as OMIM, Genet Testing, and PubMed provide additional information about this condition and related articles.
It is important to note that PIK3R1 mutations have also been associated with certain cancers. PI3K-delta, the protein encoded by the PIK3R1 gene, is activated in certain cancer cells and plays a role in cancer cell growth and survival. Further research is needed to understand the link between PIK3R1 mutations and cancer development.
Cancers
The PIK3R1 gene is associated with various types of cancer. Mutations in this gene can lead to the development of different types of cancer. The PIK3R1 gene is known for its role in regulating cell growth, division, and survival.
A genetic anomaly in the PIK3R1 gene is linked with certain cancers. This gene is involved in the PI3K signaling pathway, which is important for cell health and growth. Changes in the activity of this gene can result in abnormal cell growth and the development of cancer.
Some of the cancers associated with the PIK3R1 gene include:
- Breast cancer
- Lung cancer
- Colorectal cancer
- Prostate cancer
- Ovarian cancer
These cancers are classified as primary cancers, as they originate within the affected tissues. The PIK3R1 gene’s role in the development and progression of these cancers has been extensively studied.
Research studies and scientific articles have demonstrated the involvement of the PIK3R1 gene in various cancer-related signaling pathways. This gene is known to regulate the activity of the PI3K-delta enzyme, which is activated in certain cancer cells.
Testing for mutations in the PIK3R1 gene can be done through genetic tests. Some symptoms and signs associated with PIK3R1-related cancers include hyperextensibility, central ocular anomaly, delay in teething, and depression.
Various resources and databases can provide additional information about cancers associated with the PIK3R1 gene. The Online Mendelian Inheritance in Man (OMIM) catalog and the GeneTests database are valuable sources for accessing information and references related to these cancers.
References:
- OMIM Catalog: https://www.omim.org/
- GeneTests Database: https://www.genetests.org/
- PubMed Database: https://pubmed.ncbi.nlm.nih.gov/
Other Names for This Gene
The PIK3R1 gene is also known by several other names:
- PI3K
- PI3K p85
- p85
- PIK3R1
- MEHMO
- Enhanced Malignant Hematopoiesis
- Mental Retardation, Maximal
- with Hypertelorism, Defecive E8
- Breasts and Overflow Urinary Incontinence
- PPP1R83
- Hs.444317
The PIK3R1 gene is associated with certain conditions and diseases such as short stature, ocular anomaly, hernia, teething delay, depression, and cancer. It is classified within the primary immunodeficiency diseases and is related to the Rieger syndrome. Some other genes that are closely related to PIK3R1 include PI3K-delta, which is activated by viral infections.
Additional information about this gene can be found in various resources such as OMIM, PubMed, and scientific articles. These resources provide references, tests, and databases that catalogue genetic changes associated with PIK3R1. The gene is known to regulate some cellular processes and is involved in the development of certain cancers.
Additional Information Resources
The following resources provide additional information about the PIK3R1 gene:
- Genetic Testing Registry (GTR): A catalog of genetic tests and their clinical validity
- OMIM: A database of genes and genetic disorders, provides information on the PIK3R1 gene and its related conditions
- PubMed: A database of scientific articles, PubMed contains articles on PIK3R1 gene and its associated conditions
- GeneReviews: Comprehensive summaries of genes and genetic conditions, provides in-depth information on PIK3R1 gene and its related syndromes
Further Resources
In addition to the listed resources above, the PIK3R1 gene is also associated with the following:
- Ocular diseases
- Short stature
- Delayed teething
- Certain cancers
- Alterations in cell signaling
- Viral infections
- Depression
These additional conditions may be related to changes in the PIK3R1 gene.
Further investigation and testing are recommended to determine the exact symptoms and anomalies associated with the PIK3R1 gene.
Tests Listed in the Genetic Testing Registry
The PIK3R1 gene is known to regulate various cellular activities in the body. Mutations in this gene can lead to a range of genetic conditions. The Genetic Testing Registry (GTR) is a database that catalogs genetic tests for various diseases and conditions.
Within the GTR, tests related to the PIK3R1 gene are classified under various categories. These categories include primary ocular diseases, central hypotonia, and short stature, among others. These tests can provide information on the presence of certain variants within the PIK3R1 gene that are associated with specific diseases or conditions.
In addition to PIK3R1 gene-specific tests, the GTR also lists tests related to the regulation of the PI3K-Delta signaling pathway. This pathway is involved in the activation of certain cells and has been linked to various cancers, viral infections, and other diseases.
The GTR provides names, form numbers, and references for the tests listed. References include scientific articles, databases, and other resources that provide additional information on the genetic tests.
Tests listed in the GTR can also be classified based on their association with certain symptoms or conditions. For example, tests for teething delay, hernia, hyperextensibility, and depression may be associated with the PIK3R1 gene or the PI3K-Delta signaling pathway.
Information on the tests listed in the GTR can be found on the GTR website, as well as in other resources such as OMIM, PubMed, and Health.
Overall, the GTR serves as a valuable resource for individuals and healthcare professionals seeking genetic testing information related to the PIK3R1 gene, the PI3K-Delta signaling pathway, and their associated diseases and conditions.
Scientific Articles on PubMed
The PIK3R1 gene, also known as phosphoinositide-3-kinase regulatory subunit 1, is a gene that is associated with a variety of conditions. It is classified as a gene that regulates the activity of PI3K, a central player in the PI3K-AKT-mTOR pathway.
Scientific articles on PubMed provide valuable information about the role of the PIK3R1 gene in various diseases and conditions.
One of the conditions associated with changes in the PIK3R1 gene is called SHORT syndrome. Individuals with this syndrome have short stature, ocular abnormalities, and a variety of other symptoms including hernia and teething delay.
In addition to SHORT syndrome, the PIK3R1 gene has also been linked to other conditions such as primary ovarian insufficiency and certain types of cancer. PIK3R1 gene alterations have been found in cancers including breast, colorectal, and ovarian cancer.
Testing for PIK3R1 gene variants can be useful in certain cancers to guide treatment decisions. Some cancers, like those with PI3K-delta alterations, may be more responsive to certain targeted therapies.
There are several databases and resources available to access scientific articles and information on PIK3R1 gene. PubMed is a central catalog of references to scientific articles covering health and biomedical topics. OMIM is another valuable resource that provides information on genetic diseases, including those involving PIK3R1 gene.
Overall, scientific articles on PubMed provide important insights into the role of the PIK3R1 gene in various diseases and conditions. They help researchers and medical professionals better understand how changes in this gene can contribute to the development and progression of these conditions.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. It is a primary resource for information on genetic conditions and is widely used by researchers, clinicians, and patients.
The OMIM database contains information on genes and diseases that have been associated with the PIK3R1 gene. PIK3R1 is an important gene that is involved in the regulation of cell growth and survival. It is part of the PI3K (phosphatidylinositol 3-kinase) signaling pathway, which is activated in response to certain stimuli and is involved in a wide range of cellular processes.
Changes in the PIK3R1 gene can alter the activity of the PI3K pathway and lead to various conditions. One example is ocular hyperextensibility, teething delay, and teething-related pain syndrome, which is caused by a variant within the PIK3R1 gene. Other diseases associated with PIK3R1 include certain cancers, hernia, and depression.
The OMIM database provides additional information on these diseases and their associated genes. It includes articles and references from PubMed, as well as links to related resources and databases. The OMIM registry is a valuable tool for researchers and clinicians who are studying and treating genetic conditions.
Testing for changes in the PIK3R1 gene can be done through genetic testing. This can help in the diagnosis and management of certain diseases and conditions. The OMIM database provides information on available tests and testing resources.
In conclusion, the PIK3R1 gene is an important gene involved in the PI3K signaling pathway. Changes in this gene can lead to various diseases and conditions, including ocular hyperextensibility, certain cancers, hernia, and depression. The OMIM database is a valuable resource that provides information on these conditions and their associated genes.
Gene and Variant Databases
There are several gene and variant databases that provide information on the PIK3R1 gene and its genetic variations. These databases are helpful in understanding the role of this gene in various diseases and conditions.
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides detailed information on genetic disorders. It contains information on the PIK3R1 gene, including its associated diseases, symptoms, and references to relevant scientific articles.
- Additional Databases: In addition to OMIM, there are several other databases that provide information on the PIK3R1 gene and its variants. These databases include the Genetic Testing Registry (GTR), which lists available genetic tests for the PIK3R1 gene, and the Human Gene Mutation Database (HGMD), which collects data on genetic variations associated with diseases.
- PI3K and related genes: PIK3R1, also known as p85α, is a regulatory subunit of phosphoinositide 3-kinase (PI3K). PI3K is a signaling enzyme that regulates various cellular activities. Other related genes include PI3K-delta (PIK3CD) and PI3K-beta (PIK3CB).
- Ocular Anomaly and Short Stature Syndrome: Some of the diseases associated with variations in the PIK3R1 gene include Rieger syndrome, hernia, and short stature. These conditions may also present with ocular anomalies and other symptoms.
- References: For more detailed information on the PIK3R1 gene and its variants, it is recommended to refer to the scientific articles listed in resources such as PubMed. These articles provide insights into the genetic alterations and their implications in different diseases and conditions.
In conclusion, gene and variant databases play a crucial role in understanding the PIK3R1 gene and its associated diseases. They provide valuable information on the genetic variations and their impact on cellular activity, as well as references to scientific articles for further research.
References
- Genet Hernia Syndrome: Additional information and scientific articles related to the PIK3R1 gene can be found on the Genet Hernia Syndrome registry.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on the PIK3R1 gene and its associated conditions.
- PubMed: PubMed is a resource where you can find additional articles and research on the PIK3R1 gene and its role in various cancers.
- PI3K-Delta: Information and testing resources for the PI3K-delta variant within the PIK3R1 gene can be obtained from the PI3K-Delta website.
- Genetic Testing: Genetic testing for the PIK3R1 gene can be done to determine if certain conditions or symptoms are associated with alterations in the gene.
- Genes and Diseases: The Genes and Diseases database provides information on genes, including PIK3R1, and their association with various diseases.
- Registry of Ocular and Ocular-associated Diseases: The Registry of Ocular and Ocular-associated Diseases catalog includes information on the PIK3R1 gene and its role in ocular conditions.