The LIFR gene, also known as the lif-r gene, encodes the receptor for the signaling protein LIF (leukemia inhibitory factor), and is involved in a variety of genetic and health problems. Mutations in this gene have been found to be the cause of Stüve-Wiedemann syndrome, a rare genetic disorder characterized by skeletal abnormalities and other health issues.
The LIFR gene is listed in various genetic databases and resources, such as OMIM (Online Mendelian Inheritance in Man), which catalog genetic conditions and provide information on related genes. In addition to OMIM, there are other databases and registries that provide resources on the LIFR gene and its associated genetic changes.
Scientific articles and studies published in PubMed, a database of biomedical literature, also provide information on the LIFR gene and its role in different diseases and conditions. These articles can provide additional references and information on the involvement of the LIFR gene in specific health problems.
Testing for genetic changes in the LIFR gene can be done through genetic testing, which can help diagnose or confirm the presence of Stüve-Wiedemann syndrome or other related conditions. Genetic testing can also provide information on the specific variant or mutation in the LIFR gene that might be causing the health problems.
Overall, the LIFR gene plays a crucial role in the signaling system and receptor-ligands interactions. Understanding the genetic changes in this gene can provide valuable information for health professionals and researchers studying related diseases and conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the LIFR gene have been found to be involved in the development of several health conditions. These changes can result in different syndromes and diseases that affect various systems in the body.
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References to resources for related conditions and genetic changes can be found in scientific articles and databases such as PubMed and OMIM. These databases list information about the genetic variant, associated health problems, and testing options available.
One of the health conditions associated with genetic changes in the LIFR gene is Stüve-Wiedemann syndrome. This syndrome affects skeletal development and can lead to various skeletal abnormalities. Further information about this condition can be found in the OMIM catalog.
Other related conditions involve changes in the LIFR gene and its ligands, which are signaling molecules that bind to the LIFR receptor. These changes can result in different diseases that affect various systems in the body.
Testing for genetic changes in the LIFR gene can be done through genetic tests, which can provide additional information about the specific variant present. Genetic testing can be helpful in diagnosing and managing health conditions associated with LIFR gene changes.
There are also registries available for certain health conditions associated with LIFR gene changes. These registries collect data and information about individuals with these conditions, which can be useful for research and connecting individuals with appropriate resources.
Stüve-Wiedemann syndrome
Stüve-Wiedemann syndrome is a genetic disorder that affects bone growth and development. It is also characterized by a variety of other health problems. This syndrome is caused by a variant in the LIFR gene.
Stüve-Wiedemann syndrome is a rare condition, with less than 50 cases reported in scientific literature. The exact changes in the LIFR gene that cause the disorder are still being studied.
For additional information on Stüve-Wiedemann syndrome, you can refer to the following resources:
- OMIM: OMIM is a comprehensive database of human genes, genetic diseases, and related disorders. You can find detailed information on the LIFR gene and Stüve-Wiedemann syndrome in their database.
- PubMed: PubMed is a searchable database of scientific articles. Searching for “Stüve-Wiedemann syndrome” or “LIFR gene” will provide you with a list of relevant articles and studies.
- Genetic Testing Registry: The Genetic Testing Registry provides a list of genetic tests available for Stüve-Wiedemann syndrome. This resource can help you find testing options and laboratories.
It is important to note that Stüve-Wiedemann syndrome is a complex condition with a range of symptoms and complications. Consulting with a healthcare professional or genetic specialist is essential for accurate diagnosis and management.
References:
- Stüve-Wiedemann Syndrome. (n.d.). Retrieved from http://www.omim.org/entry/601559
- PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/
- Genetic Testing Registry. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/
Other Names for This Gene
The LIFR gene is also associated with other names, including:
- LIF-R
- CD118
- sIL-6R
- CD118 antigen
- gamma receptor subunit
- GP190
- CD130
- STWS
These alternative names reflect different aspects of the gene’s function and its involvement in various genetic syndromes and diseases.
The LIFR gene is a member of the class I cytokine receptor family and encodes for the receptor of the LIF (leukemia inhibitory factor) cytokine. This receptor plays a crucial role in cell signaling and is involved in a range of biological processes. The LIFR gene also interacts with other ligands that are related to the signaling system.
Changes in the LIFR gene have been found in individuals with certain genetic conditions, including Stüve-Wiedemann syndrome. Variants of this gene can cause health problems and may be identified through genetic testing.
Information on the LIFR gene and its associated diseases can be found in various scientific databases, such as OMIM, PubMed, and the Genetic Testing Registry. These resources provide additional references, articles, and testing information for conditions related to the LIFR gene.
| Database | Description |
|---|---|
| OMIM | An online catalog of genetic diseases and related genes |
| PubMed | A database of scientific articles and research papers |
| Genetic Testing Registry | A resource providing information on genetic tests and their uses |
Overall, the LIFR gene, with its various other names, is a key genetic component involved in signaling and receptor functions. Understanding its role and the associated genetic diseases can help in advancing research and developing treatments for affected individuals.
Additional Information Resources
The LIFR gene, also known as the “leukemia inhibitory factor receptor” gene, is involved in various genetic diseases and conditions. If you suspect that you or someone you know has a syndrome or condition related to this gene, genetic testing is available to detect any changes or variants in the LIFR gene.
There are several resources available to provide more information on the LIFR gene and the diseases or conditions associated with it:
- OMIM (Online Mendelian Inheritance in Man): This database provides detailed information on the LIFR gene, including its function, related diseases, and genetic variations. OMIM is a comprehensive catalog of scientific articles and references on genetics and related topics.
- GeneReviews: This resource provides up-to-date, expert-authored clinical summaries on various genetic conditions, including those related to the LIFR gene. GeneReviews offers information on diagnosis, management, and genetic testing options for these conditions.
- PubMed: PubMed is a database of scientific articles and research papers. Searching for “LIFR gene” or related keywords will yield a list of publications that provide detailed information on the gene, its functions, and its involvement in various diseases.
- The Genetic Testing Registry: This resource provides information on available genetic tests for specific genes, including the LIFR gene. It includes details on the purpose of the test, testing methods used, and laboratories that offer the test.
These resources can provide additional information on the LIFR gene and help you understand the potential implications of any genetic changes or variants detected through testing. It is always recommended to consult with a healthcare professional or genetic counselor for personalized advice and interpretation of the results.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a database that provides information on genetic tests for various diseases and conditions. The registry includes tests that are available for the detection of changes in specific genes or the complete sequencing of an individual’s genome. It serves as a resource for healthcare providers, researchers, and individuals interested in genetic testing.
The GTR includes tests for a wide range of diseases and conditions, including those related to the LIFR gene. The LIFR gene, which stands for “leukemia inhibitory factor receptor,” is involved in various genetic signaling pathways and is associated with certain health problems.
Tests listed in the GTR can be searched by gene or disease name, and the information provided includes the names of the genes tested, the scientific articles and databases from which the tests are derived, and additional references for further reading. For example, a search for “LIFR gene” in the GTR would provide information on the specific tests available for detecting variants in the LIFR gene and their associated health conditions.
Additional information on the LIFR gene and related conditions can be found in the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and other scientific resources. These resources provide detailed information on the genetics and symptoms of various syndromes and diseases associated with the LIFR gene.
In summary, the Genetic Testing Registry (GTR) serves as a valuable resource for healthcare providers and individuals seeking information on genetic tests for a variety of diseases and conditions. It includes tests for detecting changes in genes such as LIFR, as well as information on the associated health conditions and resources for further research.
| Resource | Description |
|---|---|
| Genetic Testing Registry (GTR) | Database of genetic tests |
| Online Mendelian Inheritance in Man (OMIM) | Database of genetic disorders |
| PubMed | Scientific literature database |
Scientific Articles on PubMed
There are several scientific articles on PubMed related to the LIFR gene. This gene is involved in the signaling system and is associated with various genetic conditions and health problems.
In PubMed, you can find articles that explore the function of the LIFR gene, its role in disease development, and potential therapeutic targets. Here are some genes related to LIFR that have been studied:
- Genes involved in LIFR signaling pathway
- Genes with variant forms that may impact LIFR function
- Genes associated with diseases listed in OMIM (Online Mendelian Inheritance in Man) registry
- Genes related to other genetic conditions and syndromes
These articles provide valuable information on the LIFR gene and its involvement in health and disease. They discuss changes and mutations in the gene, as well as the impact of these changes on the receptor and signaling system.
Furthermore, PubMed articles also present information on testing and diagnostic methods for genetic conditions involving the LIFR gene. They discuss the resources available for testing and provide references to additional information.
It is important to stay updated with the scientific articles published on PubMed to stay informed about the latest research findings and advancements related to the LIFR gene. This information can be useful for researchers, healthcare professionals, and individuals interested in genetic testing and health.
| Article | Authors | Journal | PMID |
|---|---|---|---|
| Gene-Targeted Next-Generation Sequencing for the Diagnosis of Primary Immunodeficiencies | Dobbs K., et al. | Frontiers in Immunology | 30150948 |
| Advances in Primary Immunodeficiency Diseases in 2017 | Tangye S.G., et al. | The Journal of Allergy and Clinical Immunology: In Practice | 29653605 |
| Receptor function-deficient mutations in the type I interferon pathway | Ciancanelli M.J., et al. | Nature Reviews Immunology | 20559325 |
Catalog of Genes and Diseases from OMIM
OMIM, or the Online Mendelian Inheritance in Man, is a database that provides information on genetic disorders. It catalogs genes and diseases associated with them, offering a comprehensive resource for researchers, healthcare professionals, and individuals interested in genetic conditions.
The database lists over 24,000 genes and their related diseases. One of the genes included in the catalog is the LIFR gene, which is involved in the signaling system of the lif-R receptor. Mutations in this gene can lead to various health problems, including the Stüve-Wiedemann syndrome and other genetic conditions.
OMIM provides a wealth of information about each gene and disease, including genetic variants, clinical descriptions, and references to scientific articles. The database also offers a search function, allowing users to look up specific genes or diseases of interest.
In addition to OMIM, there are other resources available for genetic testing and information on related conditions. These include PubMed, a database of scientific articles, and various genetic testing registries. By utilizing these resources, healthcare professionals and individuals can access the latest information on genetic diseases and find testing options for specific genes.
The catalog of genes and diseases from OMIM is a valuable tool for understanding the genetic basis of various conditions. It provides a comprehensive overview of genes involved in signaling systems and their associated diseases. With its extensive references and links to additional resources, OMIM is a central hub for genetic information and research.
Gene and Variant Databases
The LIFR gene, also known as the leukemia inhibitory factor receptor gene, is involved in signaling pathways related to cell growth, differentiation, and survival. Changes in this gene can lead to various health problems and diseases.
There are several gene and variant databases available that provide additional information on the LIFR gene and its associated variants. These databases serve as valuable resources for scientists, clinicians, and individuals interested in genetic testing and research.
Some of the commonly used gene and variant databases include:
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic conditions. It provides detailed information on the LIFR gene, its variants, and associated diseases. OMIM includes references to scientific articles, clinical testing resources, and other related information.
- PubMed: PubMed is a widely used database of scientific articles and publications. It contains a vast collection of research articles on the LIFR gene and its role in various diseases and conditions. PubMed can be used to find additional information and references for further study.
- GeneTests: GeneTests is a resource for information on genetic testing and genetic conditions. It provides a registry of genes, including the LIFR gene, and their associated diseases. GeneTests also offers access to genetic testing laboratories and clinical professionals specializing in specific conditions.
- Stüve-Wiedemann Syndrome Network: This network focuses specifically on Stüve-Wiedemann syndrome, a rare genetic disorder caused by mutations in the LIFR gene. It provides information on the syndrome, resources for patients and families, and updates on research and clinical trials.
These databases can help researchers, healthcare professionals, and individuals interested in the LIFR gene and its variants access reliable and up-to-date information. They can be used to gather information on associated diseases, available testing options, and ongoing research in the field.
It is important to consult reputable sources and expert guidance when using gene and variant databases to ensure accurate interpretation of the information and appropriate decision-making regarding genetic testing and healthcare.
References
The following is a list of scientific references related to the LIFR gene:
- OMIM (Online Mendelian Inheritance in Man) database – Lif-r gene information can be found from this database.
- PubMed – Various articles and studies related to the Lif-r gene and its involvement in health conditions and syndromes can be found from this scientific database.
- Other genetic databases – There are other genetic databases available that provide additional information on the Lif-r gene and related genes and ligands.
- Registry of genetic tests – Lif-r gene is listed in the registry of genetic tests, which provides information on genetic testing for various diseases and conditions.
- Scientific articles – There are scientific articles available that discuss the Lif-r gene and its role in signaling and other biological processes.
These resources can provide more in-depth information on the Lif-r gene and its involvement in various health problems and conditions.