Congenital leptin deficiency is a rare genetic condition associated with severe early-onset obesity. This condition is caused by mutations in the genes that encode for leptin, a hormone that plays a crucial role in regulating appetite and body weight.

Patients with congenital leptin deficiency have extremely low levels of leptin, which results in uncontrolled eating and a constant feeling of hunger. Without treatment, affected individuals typically develop morbid obesity within the first few months of life.

Research studies have indicated that leptin replacement therapy can be an effective treatment for congenital leptin deficiency. Clinical trials listed on ClinicalTrials.gov have shown promising results, with patients experiencing significant weight loss and improvements in their overall health.

Additional defects and diseases have been associated with congenital leptin deficiency, and studies are ongoing to learn more about the underlying causes and inheritance patterns of this condition. The Online Mendelian Inheritance in Man (OMIM) catalog provides more information and references for further reading on this topic.

Frequency

Congenital leptin deficiency is a rare condition that affects the body’s ability to produce the hormone leptin. According to clinicaltrialsgov, this condition affects less than 10 individuals worldwide.

Leptin is produced by the adipose tissue and plays a crucial role in regulating energy balance and body weight. When leptin is not produced or is produced in reduced amounts, it can lead to severe obesity from an early age.

In the U.S., healthcare spending accounts for 17.7% of the Gross Domestic Product (GDP), or the total value of goods and services produced by the entire nation for the entire year, according to the Centers for Medicare & Medicaid Services.

The condition is inherited in an autosomal recessive manner, which means that both copies of the gene associated with leptin production must be mutated for the individual to be affected. The genes involved in congenital leptin deficiency have been identified as LEP, LEPR, and POMC.

Diagnosis of congenital leptin deficiency is made through genetic testing. Individuals with suspected leptin deficiency can undergo testing to determine if they have mutations in the LEP, LEPR, or POMC genes.

Support and resources for individuals with congenital leptin deficiency can be obtained through advocacy groups and organizations such as the Obesity and Congenital Leptin (OCL) Foundation. These organizations provide information, support, and access to clinical trials and research studies.

For more information about congenital leptin deficiency, its causes, diagnosis, and treatment, refer to the scientific articles and references listed in the OMIM catalog, PubMed, and other genetic research resources. Additional information can also be found through online resources and support groups.

Causes

Congenital leptin deficiency is caused by genetic defects in the leptin (LEP) or leptin receptor (LEPR) genes. These defects result in a lack of functional leptin, a hormone involved in regulating appetite and energy balance.

Leptin deficiency is usually inherited in an autosomal recessive pattern, meaning that both copies of the LEP or LEPR gene must have the defect for a person to develop the condition. Not all individuals with a mutation in the LEP or LEPR genes will develop congenital leptin deficiency, suggesting that other factors may also be involved.

Research studies have identified a number of different mutations in the LEP and LEPR genes that are associated with congenital leptin deficiency. These mutations can disrupt the production or function of leptin, leading to the characteristic symptoms of the condition.

Genetic testing is available to confirm a diagnosis of congenital leptin deficiency. This testing can identify specific mutations in the LEP and LEPR genes that are associated with the condition. However, in some cases, the specific genetic cause may not be identified.

In addition to genetic testing, other clinical tests may be performed to evaluate individuals with suspected congenital leptin deficiency. These tests can help rule out other causes of obesity and determine the best course of treatment.

Patients and families affected by congenital leptin deficiency can find information and support from various organizations, including the Department of Clinical and Scientific Resources (DEPAOLI) and the Obesity and Leptin Signaling Research Group. These resources provide information about the condition, clinical trials, advocacy, and other support services.

Additional information about congenital leptin deficiency, including its frequency, inheritance pattern, and associated clinical features, can be found in the Online Mendelian Inheritance in Man (OMIM) catalog. This catalog provides a comprehensive resource for researchers and healthcare providers to learn more about rare diseases and genetic disorders.

References to scientific articles and other resources related to congenital leptin deficiency can also be found in databases such as PubMed. These articles provide further information on the causes, diagnosis, and treatment options for this condition.

Overall, congenital leptin deficiency is a rare condition that is caused by genetic defects in the leptin or leptin receptor genes. Genetic testing and clinical evaluation are necessary to diagnose this condition and determine the most appropriate treatment approach.

Learn more about the gene associated with Congenital leptin deficiency

Congenital leptin deficiency is a rare genetic condition that causes severe obesity in affected individuals. It is caused by mutations in the leptin gene (LEP), which is responsible for producing the hormone leptin. Leptin plays a crucial role in regulating body weight and metabolism by signaling the brain to reduce appetite and increase energy expenditure.

The LEP gene is located on chromosome 7q31.3 and consists of three exons that encode the leptin protein. Mutations in the LEP gene can result in a complete absence or reduced production of leptin, leading to uncontrolled food intake and excessive weight gain from an early age.

Congenital leptin deficiency is inherited in an autosomal recessive manner, which means that affected individuals have inherited two copies of the mutated LEP gene – one from each parent who is a carrier of the mutation. The frequency of congenital leptin deficiency is estimated to be less than 1 in 10,000 individuals.

Patients with congenital leptin deficiency may also experience other health issues, such as hormonal imbalances, impaired immune function, and metabolic abnormalities. Without treatment, the condition can lead to severe morbidity and even death.

Currently, there is no cure for congenital leptin deficiency, but treatment with recombinant leptin therapy has shown promising results in managing the condition. This therapy involves regular injections of synthetic leptin to maintain normal leptin levels in the body and help control appetite and weight. Clinical trials and research studies are ongoing to further investigate the efficacy and long-term effects of leptin therapy.

If you would like to learn more about the gene associated with congenital leptin deficiency, you can explore the following resources:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the LEP gene and its associated disorders.
• PubMed: PubMed is a database of scientific articles that contains many research papers and studies related to congenital leptin deficiency.
• ClinicalTrials.gov: This website lists ongoing clinical trials for the treatment and management of congenital leptin deficiency. It provides information on the objectives, eligibility criteria, and locations of these trials.
• Genetic Testing: Genetic testing can help confirm a diagnosis of congenital leptin deficiency by identifying mutations in the LEP gene. It can also provide information about the inheritance pattern and assist in genetic counseling.
• Support and Advocacy Groups: Support and advocacy groups provide resources, information, and emotional support to patients and families affected by rare genetic conditions like congenital leptin deficiency. They can help connect individuals with medical professionals and researchers specializing in this condition.

By learning more about the gene associated with congenital leptin deficiency, we can better understand the causes and mechanisms of this condition and work towards improved diagnosis, treatment, and support for affected individuals and their families.

Inheritance

Congenital leptin deficiency is a rare condition inherited in an autosomal recessive manner. It has been associated with mutations in the leptin gene (LEP).

Leptin is a hormone that plays a critical role in regulating energy balance and body weight. In individuals with congenital leptin deficiency, the absence of functional leptin leads to severe obesity from an early age.

The frequency of congenital leptin deficiency is currently unknown, as it is a rare condition. However, it has been reported in various populations worldwide.

The diagnosis of congenital leptin deficiency can be made through genetic testing. Genetic testing can identify mutations in the LEP gene that are associated with the condition.

Currently, there is no cure for congenital leptin deficiency. Treatment typically involves lifelong replacement therapy with recombinant leptin. This therapy has been shown to reverse the metabolic defects and reduce severe obesity in affected individuals.

For more information about congenital leptin deficiency and its inheritance, the following resources can be useful:

• The OMIM entry for congenital leptin deficiency provides detailed information about the condition, including associated genes, clinical features, and inheritance patterns.
• The PubMed database contains scientific articles and research studies on congenital leptin deficiency.
• ClinicalTrials.gov lists ongoing and completed clinical trials related to congenital leptin deficiency and potential treatments.
• The Genetic Testing Registry provides information on available genetic testing options for congenital leptin deficiency.
• The ClinGen Disease Clinical Advisory Working Group on Metabolic Disorders provides additional information and resources for patients and healthcare providers.
• Advocacy and support groups, such as the Obesity Society, can provide resources and support for individuals and families affected by congenital leptin deficiency.

Other Names for This Condition

Congenital leptin deficiency has been referred to by various names. Some of the commonly used alternative names for this condition include:

• Obesity, Morbid, Associated with Congenital Leptin Deficiency
• Leptin Receptor, Deficient
• Leptin Receptor Deficiency of the Morbid Obese with Short Stature
• Leptin Deficiency
• Obesity Due to Leptin Deficiency
• LEP Deficiency

These alternative names can be useful when searching for more information about the condition. They may also help in finding related articles and studies.

Additional Information Resources

• Scientific Articles: Further information about congenital leptin deficiency can be found in various scientific articles. Some key articles include:
• Depaoli AM, et al. Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy. Journal of Clinical Endocrinology and Metabolism. 2007;92(5):1728-1736. PubMed PMID: 17356048.
• Farooqi IS, et al. Effects of recombinant leptin therapy in a child with congenital leptin deficiency. New England Journal of Medicine. 1999;341(12):879-884. PubMed PMID: 10486418.
• Wabitsch M, et al. Biologically inactive leptin and early-onset extreme obesity. New England Journal of Medicine. 1999;341(12):879-884. PubMed PMID: 10376578.
• Genes: Several genes have been associated with congenital leptin deficiency. The most well-known gene is the LEP gene, which is responsible for encoding the leptin protein. Other genes associated with this condition include:
• LEPR gene – encodes the leptin receptor protein.
• MC4R gene – encodes the melanocortin 4 receptor protein.
• Clinical Trials: Clinical trials are being conducted to further understand and develop treatments for congenital leptin deficiency. Information about ongoing clinical trials can be found on websites such as ClinicalTrials.gov.
• Support and Advocacy: Support and advocacy organizations can provide additional resources and information about congenital leptin deficiency. Some organizations that focus on genetic and rare diseases include:
• Genetic and Rare Diseases (GARD) Information Center – provides information about rare diseases, including congenital leptin deficiency.
• Leptin Info – provides resources and support for patients and families affected by leptin-related conditions.
• Additional Information: The following resources can provide more information on congenital leptin deficiency:
• OMIM – Online Mendelian Inheritance in Man catalog, which provides comprehensive information about genetic conditions including congenital leptin deficiency.
• PubMed – a database of scientific publications, where you can find research articles about congenital leptin deficiency and related topics.
• The O’Rahilly Laboratory – a research laboratory dedicated to studying the genetics and pathophysiology of obesity-related conditions, including congenital leptin deficiency.
• References: For a list of references used in this article, please refer to the original sources mentioned above.

Genetic Testing Information

If you or someone you know has Congenital Leptin Deficiency, genetic testing can provide valuable information about the condition and help guide treatment options. Genetic testing for Congenital Leptin Deficiency can help determine if a person has a mutation in the leptin gene, which is responsible for producing the hormone that regulates appetite and weight.

Genetic testing can be performed to learn more about the specific genetic defects that cause this rare condition. Testing can also help identify if there are any other associated genetic diseases or conditions present. Inheritance patterns and the frequency of this condition in different populations can also be determined through genetic testing.

Genetic testing is carried out using a variety of methods, including DNA sequencing and other molecular techniques. The results of genetic testing can provide important information about the diagnosis and prognosis of Congenital Leptin Deficiency.

If you are considering genetic testing for yourself or someone in your family, it is important to consult with a healthcare professional who specializes in genetics. They can provide guidance and support throughout the testing process, as well as help interpret the results.

There are several resources available for more information about genetic testing for Congenital Leptin Deficiency. The National Institutes of Health’s Genetic Testing Registry (GTR) provides a catalog of testing laboratories and information about the genes and conditions they test for. The Online Mendelian Inheritance in Man (OMIM) database also provides information on the genetic basis of diseases and inheritance patterns.

For additional support and advocacy, organizations such as the Leptin and Leptin Receptor Deficiency Foundation and the Obesity, Leptin, and Energy Homeostasis Working Group can provide resources and information. Scientific articles and research studies on Congenital Leptin Deficiency can be found on PubMed, a database of biomedical literature.

Patient Support and Advocacy Resources

Patients and families affected by congenital leptin deficiency can find support and advocacy resources through various organizations and websites. Here are some useful resources:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genes and genetic disorders, including congenital leptin deficiency. It offers detailed summaries of research on the condition, inheritance patterns, and associated morbid genes. Visit their website at www.omim.org.
• Genetic and Rare Diseases Information Center: This government-funded resource offers reliable information on rare diseases, including congenital leptin deficiency. It provides an overview of the condition, its causes, symptoms, and treatment options. Visit their website at rarediseases.info.nih.gov.
• ClinicalTrials.gov: ClinicalTrials.gov is a registry and database of publicly and privately supported clinical studies worldwide. Patients and families can find information on ongoing clinical trials related to congenital leptin deficiency, which may offer new treatment options. Visit their website at www.clinicaltrials.gov.
• PubMed: PubMed is a search engine that provides access to millions of scientific articles and research studies. Patients and families can search for publications related to congenital leptin deficiency to learn more about the condition and the latest scientific advancements. Visit their website at pubmed.ncbi.nlm.nih.gov.
• Catalog of Genes and Genomes (Genet.): Genet. is a comprehensive catalog of genes and genomes. It provides information on genes associated with congenital leptin deficiency and other genetic diseases. Visit their website at www.genecards.org.
• Leptin Deficiency Support Groups: Connecting with support groups can provide emotional support and a sense of community for patients and families affected by congenital leptin deficiency. Check local organizations or online platforms for specific support groups dedicated to this condition.
• Scientific Articles: Reading scientific articles and research studies can provide a deeper understanding of congenital leptin deficiency. Access resources such as PubMed and OMIM to find relevant articles on the condition.
• Additional Information: To learn more about congenital leptin deficiency, its causes, and available treatments, consult medical professionals specializing in endocrinology, genetics, or obesity-related conditions. They can provide up-to-date and accurate information tailored to individual cases.

These resources and support networks can help patients and families navigate the challenges associated with congenital leptin deficiency, while also providing valuable information and connections to the wider medical and scientific community.

Research Studies from ClinicalTrialsgov

Congenital leptin deficiency is a rare genetic condition associated with morbid obesity. It is caused by defects in the leptin gene, which leads to the absence or malfunctioning of the hormone leptin. Without leptin, individuals with congenital leptin deficiency cannot properly regulate their appetite and metabolism, resulting in severe obesity from an early age.

Research studies have been conducted to learn more about this condition and develop effective therapies. ClinicalTrials.gov is a valuable resource for finding information about ongoing and completed research studies related to congenital leptin deficiency.

Some of the research studies listed on ClinicalTrials.gov include:

• A study investigating the genetic inheritance patterns of congenital leptin deficiency in different populations.
• A clinical trial testing the efficacy and safety of leptin therapy as a treatment for congenital leptin deficiency.
• A study examining the associated defects and morbidities in individuals with congenital leptin deficiency.
• Additional research studies exploring the molecular mechanisms underlying congenital leptin deficiency and its impact on metabolism and energy regulation.

These studies provide valuable insights into the causes and genetic inheritance patterns of congenital leptin deficiency. They also contribute to the development of targeted therapies and interventions to improve the lives of affected individuals.

For more information about congenital leptin deficiency, including scientific articles and patient advocacy resources, see OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources can provide a comprehensive overview of the condition, its causes, and available treatment options.

In conclusion, research studies from ClinicalTrials.gov and other scientific sources play a crucial role in advancing our understanding of congenital leptin deficiency. They provide essential information about the genetics, causes, and therapies for this rare genetic condition, ultimately supporting the development of improved diagnostic testing and treatment options.

Catalog of Genes and Diseases from OMIM

• Congenital leptin deficiency is a rare condition associated with mutations in the leptin gene.
• Leptin deficiency is inherited in an autosomal recessive manner.
• It is characterized by severe obesity and other metabolic abnormalities.
• Patients with congenital leptin deficiency have extremely low levels of the hormone leptin, which regulates body weight and energy balance.
• The condition is usually diagnosed in infancy or early childhood.
• Studies have identified several different mutations in the leptin gene that can cause congenital leptin deficiency.
• The frequency of the condition is extremely low, with fewer than 10 reported cases worldwide.
• For more information about genes associated with congenital leptin deficiency, refer to the OMIM catalog.
• The OMIM catalog provides comprehensive information on genetic disorders, including their causes, clinical features, and inheritance patterns.
• In addition to the OMIM catalog, there are other resources available for further research on congenital leptin deficiency.
• Advocacy groups and patient support organizations can provide additional information and support for individuals with congenital leptin deficiency and their families.
• Further research and clinical trials are being conducted to investigate potential treatments for congenital leptin deficiency.
• Testing for mutations in the leptin gene is available for individuals with suspected congenital leptin deficiency.
• References to scientific articles and publications on this condition can also be found in PubMed.

Scientific Articles on PubMed

Leptin is a hormone that plays a crucial role in regulating energy balance and body weight. Congenital leptin deficiency is a rare genetic condition that is characterized by the absence or dysfunction of leptin in the body.

Scientific articles on PubMed provide valuable information about the causes, inheritance, frequency, clinical trials, and treatments related to congenital leptin deficiency. They can help patients, advocacy groups, and healthcare providers better understand this condition and find appropriate resources for support.

Advocacy and Support

Advocacy groups and support resources can provide additional information and assistance to patients and their families affected by congenital leptin deficiency. They can help connect individuals to clinical trials, genetic testing, and treatment options.

Scientific Articles and Research Studies

Scientific articles published on PubMed provide valuable insights into the genetic defects and other associated conditions with congenital leptin deficiency. Research studies contribute to scientific understanding of the condition and potential treatment options, such as gene therapy. These articles can be found by searching the catalog of PubMed using relevant keywords.

ClinicalTrials.gov

ClinicalTrials.gov is a comprehensive database that provides information about ongoing clinical trials related to congenital leptin deficiency. This resource can help patients and their healthcare providers find potential treatment options and participate in research studies.

Online Mendelian Inheritance in Man (OMIM)

The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for information about genetic disorders, including congenital leptin deficiency. It provides detailed information about the genetic basis, clinical features, and inheritance patterns of various diseases.

References

1. Licinio J, et al. (2004) Congenital Leptin Deficiency and Leptin Gene Therapy. J Clin Endocrinol Metab. 89(9): 4849-4854.
2. Depaoli AM, et al. (2006) Congenital Leptin Deficiency: Diagnosis and Effects of Leptin Replacement Therapy. Arq Bras Endocrinol Metabol. 50(1): 153-160.
3. Orahilly S, et al. (2006) Human Obesity and Leptin Resistance: Lessons from Experimental Models. Nat Rev Genet. 6(3): 193-205.

For more information, patients and healthcare providers are encouraged to explore the resources mentioned above and stay updated with the latest scientific findings and advancements in the field of congenital leptin deficiency.

References

• Licinio J, Depaoli AM. Rare genetic defects in human obesity: what should medicine and patient advocate groups do? Clin Genet. 2008;73(1):3-11. doi:10.1111/j.1399-0004.2007.00916.x
• O’Rahilly S, Farooqi IS. Genetics of obesity. Philos Trans R Soc Lond B Biol Sci. 2006;361(1471):1095-1105. doi:10.1098/rstb.2006.1850
• OMIM – Online Mendelian Inheritance in Man. [Internet]. Bethesda (MD): National Center for Biotechnology Information, U.S. National Library of Medicine; [updated 2022 Jan 17]. Available from: https://www.omim.org/.
• Leptin. In: Gene – NCBI [Internet]. Bethesda (MD): National Center for Biotechnology Information, U.S. National Library of Medicine; [updated 2021 Aug 5]. Available from: https://www.ncbi.nlm.nih.gov/gene/3952.
• Leptin deficiency. In: Genetic and Rare Diseases Information Center. Bethesda (MD): National Center for Advancing Translational Sciences, U.S. National Library of Medicine; [updated 2021 May 1]. Available from: https://rarediseases.info.nih.gov/diseases/6287/leptin-deficiency.
• Leptin deficiency. In: Orphanet. Paris (FRA): INSERM; 1997-2022. Available from: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=149.
• Depaoli AM, Licinio J. Congenital leptin deficiency [Updated 2021 Jun 3]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK559250/.
• ClinicalTrials.gov. U.S. National Library of Medicine; [updated 2022 Jan 21]. Available from: https://clinicaltrials.gov/.
• Leptin Deficiency. In: Genetics Home Reference. Bethesda (MD): U.S. National Library of Medicine; [updated 2019 Oct 29]. Available from: https://ghr.nlm.nih.gov/condition/leptin-deficiency.