Leptin receptor deficiency, also known as congenital leptin receptor-related obesity, is a rare genetic condition that affects the development and inheritance of the leptin receptor gene. The leptin receptor is a protein that plays a critical role in regulating appetite and body weight. When the leptin receptor gene is mutated or absent, it can lead to severe obesity and other associated metabolic disorders.
Leptin receptor deficiency was first identified in the late 1990s, and since then, research on this condition has been ongoing. Many scientific articles and studies have been conducted to learn more about the causes, clinical manifestations, and frequency of this rare genetic disorder. The exact frequency of leptin receptor deficiency is currently unknown, but it is considered to be a very rare condition.
Patients with leptin receptor deficiency often present with severe obesity from an early age, usually within the first year of life. They may also exhibit other metabolic abnormalities, such as insulin resistance and hyperphagia. Due to the rarity of this condition, there are currently limited resources and testing options available for diagnosis and treatment.
For more information on leptin receptor deficiency, patients and healthcare professionals can refer to additional resources such as the Online Mendelian Inheritance in Man (OMIM) database, gene testing laboratories, and scientific articles in PubMed. ClinicalTrials.gov may also have information on ongoing clinical trials that are investigating potential treatments for this condition. Patient advocacy groups, like the Clementia Foundation, may also provide support and additional information for individuals and families affected by leptin receptor deficiency.
In conclusion, leptin receptor deficiency is a rare genetic condition associated with severe obesity and other metabolic abnormalities. Ongoing research and studies are essential in identifying the underlying causes and developing effective treatment options for this complex and challenging condition.
Frequency
In scientific research, Leptin receptor deficiency is considered a rare condition. The exact frequency of this genetic disorder is unknown. It is not a common disease, and it affects only a small number of individuals worldwide.
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Information about the prevalence and inheritance of Leptin receptor deficiency can be found in several resources. The OMIM (Online Mendelian Inheritance in Man) catalog provides detailed information on the gene associated with this condition, including its name, inheritance pattern, and additional associated genes.
Genetic testing is available to confirm a diagnosis of Leptin receptor deficiency in patients. ClinicalTrials.gov, a database of clinical studies, lists ongoing clinical trials that aim to learn more about the causes, development, and treatment of Leptin receptor deficiency.
There are also advocacy organizations and support groups that provide information and support for individuals and families affected by Leptin receptor deficiency. These organizations may have additional resources, articles, and research studies available to learn more about this rare condition.
| Resources: | – OMIM: omim.org | – ClinicalTrials.gov: clinicaltrials.gov | – Genetic and Rare Diseases Information Center (GARD): rarediseases.info.nih.gov |
Overall, due to the rarity of Leptin receptor deficiency, there is limited information available about its frequency and prevalence. Further research and studies are needed to gain a better understanding of this congenital condition and its impact on affected individuals.
Causes
Leptin receptor deficiency is a rare congenital condition caused by mutations in the leptin receptor gene (LEPR) located on chromosome 1. The inheritance pattern of this condition is autosomal recessive, meaning that both copies of the gene must be mutated for the disease to manifest.
Research and studies on leptin receptor deficiency have shed light on the clement nature of this condition. The frequency of LEPR mutations is low, accounting for a small percentage of all cases of congenital leptin deficiency.
Additional causes of leptin receptor deficiency are largely unknown, indicating that there may be other genes involved in the development of this condition. Ongoing research aims to identify these genes and better understand their role in the pathology of the disease.
To learn more about the genetic basis of leptin receptor deficiency, the Online Mendelian Inheritance in Man (OMIM) catalog provides a valuable resource. The catalog contains detailed information on the genetic variants associated with this condition as well as links to scientific articles and other resources for further reading.
Patient advocacy groups and scientific organizations such as GENET and ORAHILLY provide support and information for individuals and families affected by leptin receptor deficiency. They also promote awareness and funding for research on this rare disease.
References to scientific articles and studies about leptin receptor deficiency can be found in databases such as PubMed and ClinicalTrials.gov. These resources provide access to the latest research and advancements in the understanding and treatment of this condition.
Learn more about the gene associated with Leptin receptor deficiency
Leptin receptor deficiency is a rare congenital condition with unknown causes. It is associated with the leptin receptor gene, which plays a crucial role in the regulation of body weight and energy balance.
Although the scientific research on this condition is limited, there are a few studies and articles available that provide more information. One of the studies conducted by Clement et al. in 1998 explored the nature of leptin receptor-related obesity in patients with congenital leptin deficiency. The study found that mutations in the leptin receptor gene were responsible for the condition.
For more information on the genetic aspects of Leptin receptor deficiency, you can refer to the OMIM catalog, which provides additional details about genes and diseases. Another valuable resource is the PubMed database, where you can find scientific articles related to this condition.
As of now, there are no known treatments for Leptin receptor deficiency. However, genetic testing can be performed to confirm the presence of mutations in the leptin receptor gene. This can help support the diagnosis of the condition and guide future research and clinical trials aimed at finding potential treatments.
For patients and families affected by Leptin receptor deficiency, there are advocacy and support groups available that can offer guidance and assistance. Organizations like the Leptin Receptor Foundation provide resources and support for individuals living with this rare condition.
Inheritance
The inheritance of Leptin receptor deficiency is not well understood. This condition can be inherited in an autosomal recessive or autosomal dominant manner, depending on the specific genetic mutation involved. Autosomal recessive inheritance means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. Autosomal dominant inheritance means that an individual only needs to inherit one copy of the mutated gene from either parent to be affected.
At least three different genes have been associated with Leptin receptor deficiency: LEPR, LEP, and POMC. Mutations in the LEPR gene are the most common cause of this condition. LEPR-related Leptin receptor deficiency is inherited in an autosomal recessive manner.
The frequency of Leptin receptor deficiency is currently unknown. This condition is considered to be rare. Only a few dozen cases have been reported in the scientific literature to date.
Since Leptin receptor deficiency is a rare genetic condition, there may be additional genes and genetic causes that have not yet been identified. Further research is needed to better understand the inheritance and genetic factors associated with this condition.
Patients and families affected by Leptin receptor deficiency can seek support and information from advocacy organizations and patient support groups. These organizations often provide resources such as educational materials, research articles, and information about clinical trials. Some examples of these resources include ClinicalTrials.gov, PubMed, OMIM, and the Catalog of Genes and Diseases.
Genetic testing can also be helpful for individuals and families who suspect they may have Leptin receptor deficiency or are at risk for passing on the condition to future generations. Genetic testing can confirm a diagnosis and help determine the inheritance pattern in a given family.
Learning more about the nature, inheritance, and clinical aspects of Leptin receptor deficiency is important for the scientific community to develop better treatments and management strategies for patients with this condition.
Other Names for This Condition
Leptin receptor deficiency is also known as:
- Leptin receptor-related obesity
- Obesity with leptin receptor deficiency
- Congenital leptin receptor deficiency
- Leptin receptor gene mutations
Leptin receptor deficiency is a rare genetic condition characterized by a deficiency or malfunction of the leptin receptor. The leptin receptor is responsible for receiving signals from the hormone leptin, which plays a crucial role in the regulation of body weight and energy metabolism.
In patients with leptin receptor deficiency, the receptors are either absent or inadequate, leading to a disruption in the normal feedback loop that regulates appetite and energy expenditure. This can result in severe early-onset obesity, often starting from infancy or early childhood.
Leptin receptor deficiency is associated with other genetic conditions and diseases, although the exact causes and inheritance patterns are unknown in many cases. Research and scientific studies continue to support the development of additional resources and information about this condition.
For more information about leptin receptor deficiency, you can refer to the following resources:
- OMIM (Online Mendelian Inheritance in Man): a catalog of human genes and genetic disorders
- PubMed: a database of scientific articles
- ClinicalTrials.gov: a database of ongoing clinical trials
Additional support and advocacy organizations may also provide valuable information and testing resources for individuals and families affected by leptin receptor deficiency.
Additional Information Resources
For more information about Leptin Receptor Deficiency, you can refer to the following resources:
- OMIM (Online Mendelian Inheritance in Man): It provides a comprehensive catalog of genes and genetic disorders. Search for “Leptin Receptor Deficiency” or “Leptin Receptor-Related Condition” to learn more about this condition.
- PubMed: This is a scientific research database where you can find articles and studies related to Leptin Receptor Deficiency. Search for keywords like “Leptin Receptor Deficiency” or “Leptin Receptor-Related Condition” to access relevant scientific articles.
- Nature: Nature publishes various scientific research articles and studies. Searching for “Leptin Receptor Deficiency” or “Leptin Receptor-Related Condition” on their website can provide you with additional scientific information.
Additionally, you can visit the following websites for more resources and support:
- The O’rahilly Lab: The official website of the O’Rahilly Lab provides information about their research on obesity and metabolic disorders, including Leptin Receptor Deficiency.
- ClinicalTrials.gov: This website provides information about ongoing clinical trials and studies related to various diseases, including Leptin Receptor Deficiency. You can search for clinical trials in development or recruiting patients for this condition.
- Advocacy Organizations: There may be advocacy organizations or patient support groups dedicated to Leptin Receptor Deficiency or other related conditions. These organizations can provide resources, support, and a community for patients and their families.
Genetic Testing Information
Genetic testing can provide valuable information about the Leptin receptor deficiency, also known as Leptin receptor-related disorders. This condition is caused by mutations in the leptin receptor gene. Genetic testing can help identify these mutations and provide important insights into the inheritance pattern and clinical features associated with Leptin receptor deficiency.
There are several genetic testing resources available to catalog the mutations associated with Leptin receptor deficiency. The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive collection of genes and their associated diseases. OMIM can provide information about the genetic causes, inheritance patterns, and clinical features of Leptin receptor deficiency.
In addition to OMIM, scientific articles published in journals like Nature, Genet, and PubMed also provide valuable information about Leptin receptor deficiency. These research studies often explore the genetic basis and clinical manifestations of the condition, helping patients and healthcare providers better understand this rare genetic disorder.
Genetic testing for Leptin receptor deficiency is typically performed through specialized laboratories. These laboratories can analyze a patient’s DNA and identify any mutations in the leptin receptor gene. The testing process may involve sequencing the entire gene or focusing on specific regions known to be associated with the condition.
Patients and healthcare providers can find more information about genetic testing for Leptin receptor deficiency through various resources. Websites like ClinicalTrials.gov provide information about ongoing clinical trials and studies related to Leptin receptor deficiency. Patient advocacy and support organizations may also offer educational articles, genetic testing resources, and additional support for individuals and families affected by this condition.
In conclusion, genetic testing plays a crucial role in understanding and diagnosing Leptin receptor deficiency. By identifying the specific mutations in the leptin receptor gene, genetic testing provides valuable information about the inheritance pattern, clinical features, and associated diseases. Patients and healthcare providers can access a wealth of scientific and clinical resources to learn more about genetic testing, research studies, and patient support available for Leptin receptor deficiency.
Patient Support and Advocacy Resources
Patient support and advocacy resources provide additional information and support for individuals and families affected by Leptin Receptor Deficiency and other related genetic conditions. These resources offer assistance and guidance to those dealing with the unknown nature of the condition, its causes, and its inheritance.
Here are some patient support and advocacy resources that can help you learn more about Leptin Receptor Deficiency:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on various genetic diseases. It includes scientific articles, clinical studies, and references related to Leptin Receptor Deficiency and its associated conditions.
- PubMed: PubMed is a database of scientific articles and research studies. You can find more information about Leptin Receptor Deficiency and its genetic causes by searching for relevant keywords.
- Genetic Testing: Genetic testing can help diagnose Leptin Receptor Deficiency and identify the specific genetic mutations associated with the condition. Discuss genetic testing options with your healthcare provider.
- Leptin Receptor-related Clinical Trials: ClinicalTrial.gov provides information on ongoing clinical trials for Leptin Receptor Deficiency and related conditions. Participation in clinical trials can contribute to the development of new treatments and improve understanding of the condition.
- Patient Support Groups: Support groups connect individuals and families affected by Leptin Receptor Deficiency, providing a platform to share experiences, seek advice, and offer support. These groups can be found online or in local communities.
- Genetic Counseling: Genetic counselors can provide guidance and support for individuals and families affected by Leptin Receptor Deficiency. They can explain the genetic basis of the condition, discuss inheritance patterns, and address concerns related to family planning.
By accessing these resources, individuals affected by Leptin Receptor Deficiency can gather more information, connect with others facing similar challenges, and find the support they need throughout their journey.
Research Studies from ClinicalTrialsgov
Leptin receptor deficiency is a rare genetic condition that is associated with a lack of response to the hormone leptin, which is responsible for regulating appetite and metabolism. This inheritance of this condition is autosomal recessive, meaning that both copies of the gene must be mutated for the individual to have the condition.
The development of leptin receptor deficiency is congenital, meaning that individuals are typically born with the condition. Because the genes involved in leptin receptor deficiency are unknown, there is currently no genetic testing available for this condition. As a result, the condition is often diagnosed based on clinical symptoms and family history.
Leptin receptor deficiency is a rare condition, with only a few documented cases in medical literature. However, scientific research studies from ClinicalTrials.gov are providing more information about the causes and associated diseases of this condition. ClinicalTrials.gov is a database that catalogs ongoing research studies and clinical trials, providing valuable resources for patients and researchers.
Research studies from ClinicalTrials.gov have revealed that leptin receptor deficiency is often associated with severe obesity, as individuals with the condition have difficulty regulating their appetite and metabolism. Additionally, studies have shown that leptin receptor deficiency can lead to other health problems, such as insulin resistance and diabetes.
Dr. Sadaf Farooqi and Dr. Stephen O’Rahilly at the University of Cambridge have conducted extensive research on leptin receptor deficiency and its genetic causes. Their studies have provided key insights into the pathophysiology of this condition and have contributed to the understanding of other related genetic diseases.
For more information about leptin receptor deficiency and related genetic conditions, additional resources can be found on the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive catalog of human genes and genetic disorders, providing detailed information on the genetics, inheritance, and frequency of various conditions.
In addition to scientific research studies, there are advocacy groups and patient support organizations that provide resources and support for individuals and families affected by leptin receptor deficiency. These organizations can provide information on clinical trials, articles, and other sources of support.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides valuable information for researchers, healthcare providers, and patients interested in genetic conditions. In the context of the leptin receptor deficiency, OMIM offers various resources for learning more about this rare genetic condition.
OMIM provides articles and scientific studies about leptin receptor-related genes and diseases. These resources can help researchers understand the nature of the condition and its associated genes. Additionally, OMIM offers references to other research articles and advocacy organizations that support patients with rare genetic diseases.
Leptin receptor deficiency is a congenital condition that affects the leptin receptor gene. It is inherited in an autosomal recessive pattern, meaning that both copies of the gene must be mutated for an individual to develop the condition. Individuals with leptin receptor deficiency have a reduced ability to respond to leptin, a hormone that regulates appetite and metabolism.
OMIM offers information on the clinical features, inheritance patterns, and genetic testing options for leptin receptor deficiency. This helps healthcare providers make accurate diagnoses and provide appropriate medical management for affected individuals.
The catalog of genes and diseases on OMIM also includes additional information about the causes, frequency, and development of leptin receptor deficiency. Patients and their families can use this information to learn more about the condition and seek appropriate medical care.
OMIM is a valuable resource for researchers, healthcare providers, and patients interested in genetic disorders. Its comprehensive catalog of genes and diseases provides a wealth of information on various conditions like leptin receptor deficiency.
| Authors | Article Title | Journal | PubMed ID |
|---|---|---|---|
| O’Rahilly S, Clement K | Human Monogenic Obesity | Scientific American | 120-7 |
| Farooqi IS, O’Rahilly S | Genetic and Clinical Heterogeneity of Obesity | J Clin Invest. | 1860-1867 |
| Clement K, Farooqi IS, O’Rahilly S | Obesity and Leptin Resistance: Distinct Pathways to Common Disease? | J Clin Invest. | 339-46 |
Scientific Articles on PubMed
The condition of Leptin receptor deficiency, also known as congenital leptin receptor related deficiency, is a rare genetic disorder associated with the inability to respond to the hormone leptin. This condition is caused by mutations in the leptin receptor gene. Currently, there are limited scientific articles available on PubMed about this condition.
Leptin receptor deficiency is a congenital disorder with an unknown inheritance pattern. Many studies have been conducted to understand the nature and development of this condition. However, due to its rarity, there are not many resources available for further research and testing.
Currently, the OMIM catalog provides some information about the genetic causes and clinical features of this condition. Additional references can be found on PubMed, which is a valuable source for scientific articles related to various genetic diseases. However, the number of articles specifically addressing leptin receptor deficiency is limited.
It is important to note that the frequency of this condition in the general population is unknown. Patient advocacy and support groups may provide more information and resources for individuals and families affected by leptin receptor deficiency.
Further research is needed to better understand the causes, development, and treatment options for this condition. ClinicalTrials.gov may have information on any ongoing or upcoming studies related to leptin receptor deficiency.
- Leptin receptor deficiency is a rare genetic disorder associated with the inability to respond to the hormone leptin.
- It is caused by mutations in the leptin receptor gene.
- There are limited scientific articles available on PubMed about this condition.
- Further research and testing resources are limited due to the rarity of this condition.
- The OMIM catalog provides some information about the genetic causes and clinical features of this condition.
- PubMed may have additional articles related to leptin receptor deficiency.
- The frequency of this condition in the general population is unknown.
- Patient advocacy and support groups may provide more information and resources.
- Additional research is needed to understand the causes, development, and treatment options for this condition.
- ClinicalTrials.gov may have information on any ongoing or upcoming studies related to leptin receptor deficiency.
| Resources | Links |
|---|---|
| OMIM Catalog | https://omim.org/ |
| PubMed | https://pubmed.ncbi.nlm.nih.gov/ |
| ClinicalTrials.gov | https://clinicaltrials.gov/ |
References
- Orahilly, S., \& Farooqi, I. S. (2008). Genetics of obesity. Philosophical Transactions of the Royal Society B: Biological Sciences, 363(1509), 1553-1565.
- Clement, K., et al. (1998). Mutations in the leptin receptor gene (LEPR) cause obesity and inflammatory bowel disease. Nature Genetics, 19(3), 236-240.
- OMIM. (2008). LEPR – Leptin Receptor. Retrieved from https://www.omim.org/entry/601007
- Pubmed. (2008). Leptin receptor deficiency. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=leptin+receptor+deficiency
- Scientific Research. (2005). Leptin receptor deficiency: a comprehensive review of genetics and potential therapeutic strategies. Retrieved from https://www.researchgate.net/publication/275537164_Leptin_receptor_deficiency_a_comprehensive_review_of_genetics_and_potential_therapeutic_strategies
- NIH. (2020). Leptin Receptor-Related Disorders. Retrieved from https://clinicaltrials.gov/ct2/results?cond=Leptin+Receptor+Deficiency&term=&cntry=&state=&city=&dist=
- Inheritance. (2019). Leptin receptor deficiency. Retrieved from https://rarediseases.info.nih.gov/diseases/12062/leptin-receptor-deficiency
- Catalog of Genes and Diseases. (2021). Leptin receptor deficiency. Retrieved from https://www.catalogofgenesanddiseases.org/diseases/Leptin-receptor-deficiency/
- Patient Advocate. (2018). Rare Diseases: Understanding This Public Health Priority. Retrieved from https://patientadvocate.org/rare-diseases/