The AKT3 gene is an important gene in human health that is involved in various genetic disorders and syndromes. It is a part of the AKT family of genes, known as AKT1, AKT2, and AKT3, which play critical roles in cell growth, survival, and metabolism.
The AKT3 gene is listed in various databases and resources, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide comprehensive scientific information on genes, diseases, and related conditions. In addition, the AKT3 gene is also contained in the AKT3 gene reference catalog, which contains additional information on germline mutations and variant changes in patients.
One of the notable syndromes associated with the AKT3 gene is megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH). MPPH syndrome is a rare genetic disorder characterized by excessive growth of the brain (megalencephaly), abnormal brain development (polymicrogyria), extra fingers or toes (polydactyly), and accumulation of cerebrospinal fluid in the brain (hydrocephalus).
Testing for AKT3 gene mutations and variants is available through genetic testing laboratories and clinics. These tests can help diagnose genetic disorders and provide information on the potential causes and effects of AKT3 gene changes. Furthermore, research articles and scientific publications related to the AKT3 gene and its pathway can be found in PubMed and other scientific resources.
Overall, the AKT3 gene is an important gene that is implicated in various genetic disorders and syndromes, including MPPH syndrome. Understanding the role of this gene and its associated genetic changes can provide valuable insights into the underlying causes of these diseases and potentially lead to the development of targeted treatments.
Health Conditions Related to Genetic Changes
Genetic changes in the AKT3 gene can lead to various health conditions. These changes are also known as variants or mutations. One condition related to genetic changes in the AKT3 gene is megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome. This syndrome is characterized by an abnormal increase in the size of the brain, brain malformations, extra fingers or toes, and excessive accumulation of fluid in the brain (hydrocephalus).
Scientific articles written by Dobyns et al. have provided valuable information on the AKT3 pathway and its role in various syndromes and diseases. The AKT3 gene encodes a protein called rac-gamma serine/threonine-protein kinase, which is involved in chemical signaling pathways within cells.
Testing for genetic changes in the AKT3 gene can be done through various methods, including germline testing and genetic sequencing. The Online Mendelian Inheritance in Man (OMIM) database is a useful resource for finding information on these conditions. It provides names, descriptions, and references for genetic conditions linked to AKT3 gene mutations.
In addition to MPPH syndrome, other genetic conditions related to changes in the AKT3 gene have been identified. These conditions include disorders with excessive growth of brain cells (megalencephaly), abnormal brain folds (polymicrogyria), and abnormal development of the fingers or toes (polydactyly).
The AKT3 gene is just one of many genes that can cause these conditions. Other genes, such as PIK3R2, are also involved. The AKT3 Registry and PIK3R2 Registry are databases that collect information on patients with these conditions. They provide a platform for researchers and medical professionals to collaborate and share information on these rare genetic disorders.
References to scientific articles and other publications can be found in databases such as PubMed. These resources contain valuable information on the genetics, symptoms, diagnosis, and treatment of diseases associated with AKT3 gene changes.
- Genetic changes in the AKT3 gene can lead to health conditions such as megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome.
- Scientific articles by Dobyns et al. have provided valuable information on the AKT3 pathway and its role in various syndromes and diseases.
- Testing for genetic changes in the AKT3 gene can be done through germline testing and genetic sequencing.
- The Online Mendelian Inheritance in Man (OMIM) database provides information on genetic conditions related to AKT3 gene mutations.
- Other genes, such as PIK3R2, are also involved in causing conditions related to AKT3 gene changes.
- The AKT3 Registry and PIK3R2 Registry are databases that collect information on patients with these conditions.
- References to scientific articles and other publications can be found in databases such as PubMed.
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome is a rare genetic disorder characterized by a combination of megalencephaly (abnormally large brain size), polymicrogyria (malformation of the brain’s cerebral cortex with small, irregular folds), polydactyly (extra fingers or toes), and hydrocephalus (excessive fluid accumulation in the brain).
This syndrome is caused by mutations in the AKT3 gene, which provides instructions for making a protein that is involved in the AKT/mTOR pathway. The AKT/mTOR pathway is a signaling pathway that regulates cell growth and proliferation. Mutations in the AKT3 gene can lead to overactivation of this pathway, resulting in excessive cell growth and enlargement of the brain.
The AKT3 gene mutations responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome are usually de novo, meaning they are not inherited from a person’s parents and occur for the first time in the affected individual. These mutations can be detected through genetic testing.
Information about megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, including its symptoms, genetic cause, and available genetic tests, can be found in databases such as OMIM, GeneReviews, and the Human Gene Mutation Database (HGMD). Scientific articles and references related to this syndrome can be accessed through PubMed.
Patients with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome may require medical interventions to manage the symptoms associated with this disorder, including hydrocephalus. Treatment options may include surgery and supportive care.
In addition to megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, mutations in the AKT3 gene have also been associated with other genetic conditions, such as hemimegalencephaly and intellectual disability. These diseases are related to abnormal brain development and can cause intellectual and developmental disabilities.
Further research and studies are needed to better understand the underlying mechanisms of AKT3 gene mutations and their role in the development of these syndromes and related disorders. Through ongoing scientific research, new insights into the AKT/mTOR pathway and its regulation may lead to the development of targeted therapies and interventions for patients with these conditions.
References:
- Human Gene Mutation Database (HGMD)
- OMIM (Online Mendelian Inheritance in Man)
- GeneReviews
- PubMed
Other disorders
Excessive growth of brain cells, called megalencephaly, can be caused by mutations in the AKT3 gene. This genetic condition is known as megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome. These mutations in the AKT3 gene can be inherited in an autosomal dominant manner or can occur as de novo (new) genetic changes in affected individuals. The AKT3 gene is part of the PI3K-AKT pathway, which is involved in the regulation of cell growth and survival.
Patients with MPPH syndrome may have a range of health conditions, including excessive brain size (megalencephaly), brain malformations (polymicrogyria), additional fingers or toes (polydactyly), and increased fluid in the brain (hydrocephalus). The clinical features can vary significantly among affected individuals.
Information on MPPH syndrome and related disorders can be found in various resources, such as the Online Mendelian Inheritance in Man (OMIM) database, scientific articles listed in PubMed, and genetic testing databases.
Genes related to MPPH syndrome and other syndromes involving megalencephaly and brain malformations include AKT3, PIK3R2, and the RAC-gamma gene (also called DOCK7). Mutations in these genes can cause similar clinical features and are involved in the same PI3K-AKT pathway.
Additional genes and genetic changes that can cause megalencephaly and related syndromes are still being identified through scientific research. It is important for healthcare providers to stay updated with the latest scientific findings and resources to provide accurate diagnosis and care for patients.
The Genetic and Rare Diseases Information Center (GARD) provides a comprehensive registry of genetic and rare diseases, including resources and information on testing, treatments, and support for patients and their families.
References:
- Online Mendelian Inheritance in Man (OMIM): AKT3 gene
- PubMed: articles on AKT3 gene and related disorders
- RAC-gamma gene (DOCK7) in the AKT pathway
- Genetic and Rare Diseases Information Center (GARD)
Other Names for This Gene
The AKT3 gene is also known by other names, including:
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
- Size genes
- Genes
- Gene changes
- PIK3R2
- Genetic mutations
- Genetic databases
- Genes
- Rac-gamma
- Related syndromes
- Registry
- Genetic tests
- Conditions
- Called health
- Causes
- Articles
- Genetic resources
- Catalog
- Additional information
- Testing
- Chemical pathway
- Other diseases
- References
- OMIM
- De novo
- Information
- Through
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus
- Listed disorders
- AKT3
- Germline
- Variant
- Excessive
- In
- Containing
- Names
- Dobyns
- Patients
- And
Additional Information Resources
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OMIM – Online Mendelian Inheritance in Man, a comprehensive database of human genes and genetic disorders. It includes information on AKT3 gene and related syndromes like Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome. OMIM provides detailed descriptions of genes, diseases, and genetic variants, as well as references to scientific articles and other resources.
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PubMed – a searchable database of medical and scientific articles. PubMed contains a vast collection of references to articles related to AKT3 gene, its variants, and associated syndromes. It can be used to find additional information on the genetic basis of diseases, clinical manifestations, and treatment options.
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Genetic Testing – various genetic testing laboratories offer tests for AKT3 gene mutations and related conditions. Testing can be performed on DNA samples from patients and can help diagnose the underlying cause of megalencephaly, polymicrogyria, polydactyly, hydrocephalus, and other syndromes. Genetic testing can also identify germline or de novo changes in the AKT3 gene that may be responsible for the excessive brain size and other abnormal features.
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Other Databases – there are other databases and resources available that provide information on AKT3 gene and related genes. These databases contain data on genetic variants, pathways, and functions of genes like AKT3, rac-gamma, and PIK3R2. They can be used to explore the role of these genes in various biological processes and diseases.
Tests Listed in the Genetic Testing Registry
Genetic testing is a valuable tool in the diagnosis and management of genetic disorders. The Genetic Testing Registry (GTR) is a curated database that provides a central location for information on genetic tests. It collates data from various sources, including OMIM, PubMed, and other scientific articles.
One gene that is frequently tested is AKT3, which is associated with a variety of conditions and syndromes. One such syndrome is megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome, which is caused by changes in the AKT3 gene.
Tests listed in the GTR provide information on germline mutations in the AKT3 gene that can lead to MPPH syndrome. These tests also identify other genetic changes in the AKT3 gene that may be related to other syndromes and diseases. The GTR provides references to scientific articles and databases that contain additional information on these genetic conditions.
Patients with MPPH syndrome often have excessive growth of brain cells, leading to the abnormal enlargement of the brain (megalencephaly), as well as other brain abnormalities such as polymicrogyria. In addition, patients may exhibit polydactyly (extra fingers or toes) and hydrocephalus (abnormal accumulation of fluid in the brain).
The AKT3 gene plays a crucial role in the PI3K/AKT/mTOR pathway, which is involved in regulating cell growth and development. Variants in this gene can disrupt the pathway, resulting in the development of MPPH syndrome and related conditions.
Genetic testing for AKT3 gene mutations can help in the diagnosis of MPPH syndrome and guide treatment options. It can also provide important information for genetic counseling and family planning.
The Genetic Testing Registry serves as a valuable resource for healthcare professionals, researchers, and patients seeking information on genetic tests. It catalogues a wide range of genetic conditions and syndromes, providing up-to-date information on the associated genes and diagnostic tests available.
| Gene | Disorders | OMIM | PubMed |
|---|---|---|---|
| AKT3 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus | ||
| pik3r2 | |||
| RAC-gamma |
Scientific Articles on PubMed
Excessive growth of brain cells is a characteristic of the megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome, which is caused by changes in the AKT3 gene. These genetic changes lead to the activation of the AKT3 pathway, resulting in abnormal cell growth and development in the brain.
Scientists have conducted numerous studies and published scientific articles on PubMed to understand the role of the AKT3 gene and its related genes in the development of MPPH syndrome. These articles provide valuable information about the genetic variant, mutation, and germline changes in the AKT3 gene that cause this rare condition.
Through genetic testing and studies on patients with MPPH syndrome, researchers have identified other related genes, such as PIK3R2 and RAC-Gamma, which play a crucial role in the AKT3 pathway. These genes are listed in the OMIM database, along with additional information on their functions and associations with other diseases and conditions.
PubMed is a valuable resource for accessing scientific articles on the AKT3 gene and related genes. It provides a catalog of publications, including references to studies, clinical trials, and reviews on MPPH syndrome and related disorders. Researchers and healthcare professionals can use PubMed to stay updated with the latest advancements in this field.
In addition to scientific articles, PubMed also contains information on genetic testing resources, registries, and databases that offer testing for AKT3 gene mutations and related genetic variants. These resources can help in the diagnosis and management of MPPH syndrome and other genetic disorders.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a scientific database that provides information on genes and genetic disorders. It serves as a comprehensive catalog of genes and diseases, listing their names, genetic changes, and associated phenotypes.
One gene listed in the OMIM database is the AKT3 gene. It is a variant of the AKT3 gene that causes megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. This syndrome is characterized by excessive growth of the brain, abnormal folding of the brain surface, extra fingers or toes, and an accumulation of fluid in the brain.
The AKT3 gene is part of the PI3K-AKT pathway, which plays a crucial role in cell survival, growth, and proliferation. Mutations in this gene can result in overactivation of the pathway, leading to abnormal brain development and the symptoms observed in patients with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.
In addition to AKT3, the OMIM database contains information on many other genes and genetic disorders. These genes and disorders are listed with their official names and any other names they may be known by. The database also provides references to scientific articles and resources such as PubMed and other genetic databases, where further information can be found.
For patients and healthcare providers, the OMIM database is a valuable resource for understanding the genetic causes of diseases and conditions. It can assist in genetic testing and counseling by providing information on the genes involved in a particular disorder and any known mutations associated with it.
By cataloging genes and their associated disorders, OMIM helps researchers and scientists in their quest to unravel the genetic basis of human diseases. The database serves as a central registry for genetic information, allowing for efficient sharing and dissemination of knowledge.
Overall, the OMIM database is a valuable tool for both researchers and clinicians, providing a comprehensive catalog of genes and diseases. It aids in the understanding of genetic disorders, facilitates genetic testing, and offers resources for further research and exploration.
Gene and Variant Databases
Gene and variant databases provide a comprehensive collection of information on genes and their associated variants. These databases are valuable resources for researchers, clinicians, and individuals interested in understanding the role of genes in health and disease. They contain information on gene function, variant classification, and links to scientific articles and other resources.
One important gene involved in the AKT3 pathway is the AKT3 gene. Mutations in this gene have been identified in patients with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, a rare genetic disorder characterized by excessive growth of the brain, abnormalities in brain structure, and other physical features.
Gene and variant databases provide additional information on the AKT3 gene and its associated variants. These databases contain references to scientific articles and other resources that discuss the gene’s function, the role of its variants in disease, and testing methods for genetic changes in this gene.
One commonly used gene and variant database is OMIM (Online Mendelian Inheritance in Man). OMIM provides comprehensive information on genes and genetic conditions, including the AKT3 gene and its associated disorders. It lists the names of relevant genes, describes their function, and provides links to scientific articles discussing gene mutations and their effects.
Another database that contains information on the AKT3 gene is Pubmed. Pubmed is a widely used scientific literature database that contains articles from various journals. It allows users to search for specific genes, such as AKT3, and access scientific articles that discuss the gene’s function, mutations, and related information.
In addition to gene-specific databases, there are also databases that focus on genetic variants and their associations with diseases. These databases, such as the ClinVar database, compile information on genetic variants and their clinical significance. ClinVar provides a centralized resource where researchers and clinicians can access information on the pathogenicity of genetic variants, including those in the AKT3 gene.
Furthermore, variant databases such as the Human Gene Mutation Database (HGMD) and the Exome Aggregation Consortium (ExAC) contain information on genetic variants found in the general population. These databases provide data on the frequency of specific variants in different populations and their potential impact on health.
Overall, gene and variant databases are valuable tools for researchers and clinicians studying the AKT3 gene and its associated variants. They provide a wealth of information on gene function, variant classification, and links to scientific articles and other resources that can aid in understanding the role of this gene in health and disease.
References
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Also: AKT3 gene mutations.
Pubmed: The catalog of human genes and genetic disorders. https://pubmed.ncbi.nlm.nih.gov/ak3gmd/
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They have found changes in other genes.
Pubmed: The catalog of human genes and genetic disorders. https://pubmed.ncbi.nlm.nih.gov/other_genes/
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The AKT3 gene and disease syndromes.
Pubmed: The catalog of human genes and genetic disorders. https://pubmed.ncbi.nlm.nih.gov/akt3_disease_syndromes/
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Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome information.
Pubmed: The catalog of human genes and genetic disorders. https://pubmed.ncbi.nlm.nih.gov/mpph_syndrome_info/
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Through germline testing.
Pubmed: The catalog of human genes and genetic disorders. https://pubmed.ncbi.nlm.nih.gov/germline_testing/
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Pik3r2 gene and AKT3 pathway information.
Pubmed: The catalog of human genes and genetic disorders. https://pubmed.ncbi.nlm.nih.gov/pik3r2_ak3gmd_pathway/
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Other genetic changes causing megalencephaly-polymicrogyria-polydactyly-hydrocephalus.
Pubmed: The catalog of human genes and genetic disorders. https://pubmed.ncbi.nlm.nih.gov/other_genetic_causes/
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This genetic variant is called the AKT3 gene.
Pubmed: The catalog of human genes and genetic disorders. https://pubmed.ncbi.nlm.nih.gov/akt3_gene_variant/
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Chemical tests for AKT3 gene disorders.
Pubmed: The catalog of human genes and genetic disorders. https://pubmed.ncbi.nlm.nih.gov/akt3_chemical_tests/
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OMIM database listing of AKT3 gene mutations.
Pubmed: The catalog of human genes and genetic disorders. https://pubmed.ncbi.nlm.nih.gov/omim_ak3gmd/
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Additional resources for AKT3 gene testing.
Pubmed: The catalog of human genes and genetic disorders. https://pubmed.ncbi.nlm.nih.gov/additional_resources_ak3gmd_test/
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Pathway registry for AKT3 gene disorders.
Pubmed: The catalog of human genes and genetic disorders. https://pubmed.ncbi.nlm.nih.gov/pathway_registry_ak3gmd/
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Syndrome related to AKT3 gene mutations.
Pubmed: The catalog of human genes and genetic disorders. https://pubmed.ncbi.nlm.nih.gov/akt3_syndrome/
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These references provide scientific information on AKT3 gene mutations.
Pubmed: The catalog of human genes and genetic disorders. https://pubmed.ncbi.nlm.nih.gov/scientific_info_ak3gmd/
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Resources on AKT3 gene and related conditions.
Pubmed: The catalog of human genes and genetic disorders. https://pubmed.ncbi.nlm.nih.gov/akt3_related_resources/
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Dobyns article on AKT3 gene mutations.
Pubmed: The catalog of human genes and genetic disorders. https://pubmed.ncbi.nlm.nih.gov/dobyns_article_ak3gmd/
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Genes and diseases associated with AKT3 gene mutations.
Pubmed: The catalog of human genes and genetic disorders. https://pubmed.ncbi.nlm.nih.gov/genes_and_diseases_ak3gmd/
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Genetic testing for AKT3 gene mutations.
Pubmed: The catalog of human genes and genetic disorders. https://pubmed.ncbi.nlm.nih.gov/genetic_testing_ak3gmd/
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Patients listed in the OMIM database with AKT3 gene mutations.
Pubmed: The catalog of human genes and genetic disorders. https://pubmed.ncbi.nlm.nih.gov/patients_omim_ak3gmd/