The GH1 gene, also known as the growth hormone 1 gene, is a large gene listed in various scientific databases and resources related to endocrinology and genetic diseases. It encodes the protein hormone growth hormone, which is responsible for normal growth and development in humans.
Mutations in the GH1 gene can result in a deficiency in growth hormone production, leading to conditions such as growth hormone deficiency. These genetic changes can be identified through genetic testing and are often associated with changes in other genes and hormones related to growth and development.
The GH1 gene is listed in databases such as PubMed, OMIM, and the Genetic Testing Registry, which provide additional information on the gene, its variants, and associated genetic conditions. These resources can be used by clinicians and researchers for reference and to find articles and tests related to GH1 gene-related conditions.
Further testing and analysis of the GH1 gene can help in the diagnosis of growth hormone deficiency and provide important information for treatment and management of affected individuals. The GH1 gene is a key player in the regulation of growth hormone production, and its study contributes to our understanding of the genetic basis of growth-related disorders.
Health Conditions Related to Genetic Changes
Genetic changes can have a profound impact on an individual’s health. These changes can be inherited from parents or arise spontaneously. Genetic tests can help identify these changes and provide valuable information about an individual’s risk for certain health conditions.
One gene that is often associated with health conditions is the GH1 gene, which encodes the growth hormone. Genetic changes in this gene can lead to isolated growth hormone deficiency, a condition characterized by a lack of growth hormone production. Individuals with this deficiency may have stunted growth and other developmental issues.
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Scientific research has also identified other genes and genetic changes that are related to health conditions. These include genes that regulate the release of hormones, such as ghrelin and IGF-I, which are involved in growth and metabolism.
There are several online resources that catalog genetic changes and their associated health conditions. The Online Mendelian Inheritance in Man (OMIM) database, for example, provides detailed information about genes and genetic disorders. PubMed, a database of scientific articles, is another valuable resource for finding information about genetic changes and their health implications.
In addition to these databases, there are also specialized registries and clinics that focus on specific genetic conditions. These resources provide additional information, support, and resources for individuals and families affected by genetic changes.
It is important to note that genetic changes can have a wide range of effects on health. Some genetic changes may result in severe health conditions, while others may have little or no impact on health. Additionally, the presence of a genetic change does not necessarily mean that an individual will develop a specific health condition. Environmental factors and other genetic variations can also influence an individual’s risk for certain diseases.
In conclusion, genetic changes can have significant implications for health. Through genetic tests and resources such as databases and clinics, individuals can gain valuable information about their genetic makeup and potential health risks. This knowledge can help inform healthcare decisions and facilitate early interventions for certain health conditions.
Isolated growth hormone deficiency
Isolated growth hormone deficiency is a condition that affects the production of growth hormone in the body. Growth hormone is essential for normal growth, and deficiency can lead to growth disorders and other health conditions.
The GH1 gene and the ghrelin gene are two genes related to isolated growth hormone deficiency. Changes or variants in these genes can disrupt the normal release of growth hormone and lead to deficiency.
Testing for isolated growth hormone deficiency usually involves genetic testing to identify changes in the GH1 or ghrelin genes. This information can help diagnose the condition and guide treatment options.
The Online Mendelian Inheritance in Man (OMIM) database provides additional information on genetic changes and their associated diseases. The Genetic and Rare Diseases Information Center (GARD) also offers resources on isolated growth hormone deficiency.
| Resources | References |
|---|---|
| – Endocrinol. Epub, Articles | – Genetic changes related to isolated growth hormone deficiency |
| – Registry for genetic testing | – Growth hormone deficiency |
| – GH1 gene | – Genetic changes in the GH1 gene |
| – Ghrelin gene | – Genetic changes in the ghrelin gene |
It is important to note that isolated growth hormone deficiency is different from other forms of growth hormone deficiency that may be associated with different genetic changes or health conditions. Consultation with a healthcare professional is recommended for proper diagnosis and treatment.
Other Names for This Gene
- Growth hormone 1
- Growth hormone isoform 2
- Growth hormone variant 2
- Growth hormone gene, large gene family (including gene variants)
- Growth hormone 1 (variant 2)
- Growth hormone (big gene family including variant genes)
- GH-N without variants
- GH-1
- GH1
- IGHD1A
- IGF-I deficiency, isolated
- Isolated growth hormone deficiency
- Protein growth hormone, clients affiliates refer to gene for
Additional Information Resources
Listed below are some additional resources where you can find more information about the GH1 gene and related topics:
- PubMed: A large scientific database that contains articles and references to genes, genetic variants, and diseases. You can search for articles related to the GH1 gene, growth hormone deficiency, and other related conditions.
- OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic disorders. You can find detailed information about the GH1 gene, including its function, related diseases, and genetic variants.
- ClinVar: A public database that provides information on genetic variants and their association with health conditions. You can find information on GH1 gene variants and their clinical significance.
- Genetic Testing Registry: A resource that provides information on genetic tests for specific genes and conditions. You can find information about genetic tests for GH1 gene mutations and growth hormone-related disorders.
- IGF-I: Insulin-like Growth Factor-I, a protein that is related to growth hormone and plays a role in growth and development. You can find information on the relationship between the GH1 gene and IGF-I levels.
- GHRELIN: A hormone that is also involved in growth and metabolism. You can find information on the relationship between the GH1 gene and ghrelin levels.
These resources can provide you with valuable information about the GH1 gene, its function, related disorders, and available testing options. It is always recommended to consult with healthcare professionals or genetic counselors for more specific and personalized information.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a comprehensive database that provides information about genetic tests for various conditions. It is a valuable resource for healthcare professionals, researchers, and individuals interested in genetic testing. The GTR includes a wide range of tests related to the GH1 gene and its associated conditions. Here are some of the tests listed in the GTR:
- GH1 gene sequencing: This test involves analyzing the DNA sequence of the GH1 gene to identify any changes or variants.
- IGF-I measurement: This test measures the level of insulin-like growth factor-I (IGF-I) in the blood, which is regulated by the GH1 gene.
- Growth hormone deficiency panel: This panel includes multiple tests to evaluate the function of the GH1 gene and assess growth hormone deficiency.
- GH1 gene variant databases: These databases compile information about different variants of the GH1 gene, including their frequency and clinical significance.
- Isolated growth hormone deficiency panel: This panel focuses specifically on the genetic causes of isolated growth hormone deficiency, which may involve the GH1 gene.
In addition to these specific tests, the GTR also provides links to other related resources, such as scientific articles, PubMed references, OMIM entries, and clinical catalog entries. These resources offer additional information about the GH1 gene, associated conditions, and genetic testing.
The GTR serves as a centralized hub for genetic testing information, ensuring easy access to accurate and up-to-date data. It plays a crucial role in facilitating research, clinical decision-making, and improving health outcomes.
Scientific Articles on PubMed
PubMed is a catalog for articles related to the GH1 gene, which is responsible for the production of growth hormone. It provides a wealth of information on genetic testing, hormone release, and the effects of GH1 gene changes on other diseases and conditions.
One of the main hormones regulated by the GH1 gene is insulin-like growth factor I (IGF-I). Scientific articles on PubMed discuss the role of IGF-I in growth and development, as well as its potential implications in various health conditions.
Several tests for genetic changes in the GH1 gene are available. These tests can provide valuable information for diagnosis and treatment of growth hormone deficiency and other related conditions. PubMed lists additional resources for genetic testing, including the Genetic Testing Registry and OMIM databases.
Scientific articles on PubMed also explore the role of other genes and proteins related to growth hormone, such as ghrelin. Ghrelin is involved in appetite regulation and has been linked to various health conditions. The names of these genes and proteins, along with their associated scientific references, can be found in PubMed.
PubMed offers a large collection of scientific articles on the GH1 gene, growth hormone, and related topics. It is a valuable resource for researchers, healthcare professionals, and anyone interested in genetic information and the effects of GH1 gene changes.
References:
- PubMed: https://pubmed.ncbi.nlm.nih.gov/
- Genetic Testing Registry: https://www.ncbi.nlm.nih.gov/gtr/
- OMIM: https://omim.org/
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive resource for genetic information on various diseases and genes. It provides a vast amount of information on the GH1 gene, which is directly related to growth hormone deficiency.
In this catalog, you can find not only the names and descriptions of genes and diseases but also additional scientific resources for further understanding. This includes articles from PubMed, related genetic databases, and testing resources for specific conditions.
For the GH1 gene, you can find information on the genetic changes and variant forms associated with growth hormone deficiency. The catalog also lists other conditions that may have isolated growth hormone deficiency as a symptom.
There are references and registry information available for genetic tests and scientific studies conducted on the GH1 gene. Furthermore, the catalog provides information on the normal function of the GH1 gene in the release of growth hormone and its interaction with other hormones such as IGF-I and ghrelin.
Health professionals and researchers can benefit from this catalog as it serves as a one-stop resource for comprehensive and up-to-date information on genes, genetic conditions, and related scientific publications. The catalog serves as a valuable tool for further research and understanding in the field of endocrinology and genetics.
For more information on the GH1 gene and related genetic conditions, you can explore the Catalog of Genes and Diseases from OMIM.
Gene and Variant Databases
Gene and variant databases are online resources that catalog and provide information about genes and their associated variants. These databases serve as a registry for genetic information and are invaluable tools for researchers, healthcare professionals, and patients. They contain data on genes, variants, and their role in various health conditions.
One such database is OMIM (Online Mendelian Inheritance in Man), which provides comprehensive information on genes and genetic diseases. It includes a catalog of genetic test names and descriptions, links to scientific articles and references, and additional resources for further reading.
Another important database is PubMed, a search engine for scientific articles in the field of health and biomedical research. It allows users to access a vast collection of articles related to genes, variants, and their impact on human health. PubMed is a valuable resource for staying up-to-date with the latest research on gene and variant discoveries.
Furthermore, ClinVar is a database that collects and archives information about genomic variants and their relationship to human health. It provides a centralized repository for storing and sharing information about genetic variants and their clinical significance. ClinVar is widely used by healthcare professionals for variant interpretation and clinical decision-making.
Gene-specific databases are also available for many genes and genetic conditions. For example, the GH1 Gene is associated with growth hormone deficiency, and the GH1 Gene Database provides detailed information about the gene and its variants. It includes data on the protein encoded by the gene, variant frequencies in normal and affected populations, and clinical testing information.
Other databases focus on specific genes or gene families, such as the IGF-I gene, which plays a role in growth hormone regulation. The IGF-I Gene Database provides information on the gene, its variants, and their association with growth-related conditions.
In addition to the above-mentioned databases, there are also online resources like Genetic Home Reference, which provides consumer-friendly information about genes, genetic conditions, and related health topics. This resource is particularly useful for patients and their families seeking easily understandable information about genetic disorders.
In conclusion, gene and variant databases are valuable tools for researchers, healthcare professionals, and patients. They provide a wealth of information on genes, variants, and their impact on human health. These databases serve as registries for genetic information, allowing easy access to resources and data that are crucial for genetic testing, research, and the diagnosis and management of genetic conditions.
References
- OMIM – Online Mendelian Inheritance in Man: search for GH1 gene and related diseases information
- PUBMED – scientific articles and research studies on GH1 gene and its variants
- ClinVar – a public database of genetic variants and their relationship to specific diseases and health conditions
- IGF-I – insulin-like growth factor 1, a hormone that is regulated by the GH1 gene
- Endocrinol – Journal of Endocrinology: articles and research related to growth hormone deficiency and GH1 gene
- Genetic Testing Registry – information and resources on genetic testing for GH1 gene and related conditions