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Proopiomelanocortin deficiency is a rare genetic condition that affects the production of a hormone called proopiomelanocortin (POMC). POMC is a precursor protein that is processed to produce several hormones, including adrenocorticotropic hormone (ACTH), melanocyte-stimulating hormone (MSH), and others.

Proopiomelanocortin deficiency can be caused by mutations in the POMC gene, which is located on chromosome 2. These mutations can result in the production of an abnormal POMC protein or the complete absence of POMC production. As a result, affected individuals have low levels of cortisol, which can lead to adrenal insufficiency and other symptoms.

The clinical presentation of proopiomelanocortin deficiency can vary depending on the specific mutations and the resulting hormone deficiencies. Common symptoms include adrenal insufficiency, obesity, and increased susceptibility to infections. Some individuals may also have skin and hair color abnormalities, as well as other endocrine disorders.

Diagnosis of proopiomelanocortin deficiency is typically based on the presentation of symptoms and confirmed through genetic testing. Additional tests may be performed to assess hormone levels and adrenal function. Genetic counseling may be recommended for affected individuals and their families.

Treatment for proopiomelanocortin deficiency usually involves hormone replacement therapy to manage adrenal insufficiency. Obesity and other associated conditions may also be managed with lifestyle modifications and medications as needed. Regular monitoring and follow-up care are important to address any complications and optimize overall health.

Research studies and ongoing clinical trials are aimed at further understanding the causes, mechanisms, and potential treatments for proopiomelanocortin deficiency. Various resources, including PubMed, OMIM, and genetic advocacy centers, provide additional information and support for patients and their families.

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Frequency

Proopiomelanocortin deficiency is a rare genetic condition. According to studies, it affects less than 1 in 1 million people worldwide.

The condition has different names, including proopiomelanocortin deficiency, POMC deficiency, and ACTH deficiency. It is caused by mutations in the POMC gene, which is responsible for producing the β-msh protein.

Patients with proopiomelanocortin deficiency often have clinical features such as adrenal insufficiency, obesity, and a deficiency in other hormone production.

Studies have reported on cases of POMC deficiency, and more research is ongoing to learn more about the condition. Information about clinical trials for this condition can be found on clinicaltrialsgov, and additional references can be found in scientific articles and research papers.

Inheritance of proopiomelanocortin deficiency can be either autosomal recessive or autosomal dominant, meaning that a person can inherit the condition from both parents or from just one parent. Genetic testing can provide more information about the specific genetic mutations associated with the condition.

It is important for individuals with proopiomelanocortin deficiency to receive proper medical support and care. There are advocacy and support resources available for individuals and families affected by this rare condition.

Resources
Resource Description
OMIM Online Mendelian Inheritance in Man (OMIM) provides information on genetic disorders, including proopiomelanocortin deficiency.
PubMed PubMed is a database of scientific articles and research papers where more information on proopiomelanocortin deficiency can be found.
ClinicalTrials.gov ClinicalTrials.gov is a catalog of ongoing clinical trials that may be relevant to proopiomelanocortin deficiency.
Genetic testing Genetic testing can provide information about the specific genetic mutations associated with proopiomelanocortin deficiency.

Causes

Proopiomelanocortin deficiency is a rare genetic disease that is often caused by mutations in the POMC gene. The POMC gene provides instructions for making the proopiomelanocortin (POMC) protein. This protein is processed into smaller molecules, including β-melanocyte-stimulating hormone (β-MSH) and adrenocorticotropic hormone (ACTH), which play important roles in regulating the body’s response to stress and controlling appetite.

Most cases of proopiomelanocortin deficiency result from mutations that disrupt the production of functional POMC protein. Without enough POMC protein, affected individuals do not produce adequate amounts of the β-MSH hormone, which is involved in the regulation of body weight. As a result, affected individuals often develop severe obesity from an early age.

In addition to the POMC gene, other genes associated with proopiomelanocortin deficiency have been identified through scientific research. However, more studies and research are needed to fully understand the frequency and inheritance patterns of these rare genetic causes of the disease.

Genetic testing can be used to confirm a diagnosis of proopiomelanocortin deficiency. This testing looks for changes in the POMC gene that are known to be associated with the condition.

For more information about the genes associated with proopiomelanocortin deficiency, refer to the following resources:

There are also advocacy groups and patient support resources available that can provide additional information about proopiomelanocortin deficiency, genetic testing, and related diseases.

Learn more about the gene associated with Proopiomelanocortin deficiency

Proopiomelanocortin (POMC) deficiency is a rare genetic condition that affects the production of certain hormones in the body. This condition is caused by mutations in the POMC gene. The POMC gene provides instructions for making a protein called proopiomelanocortin, which is involved in the production of several important hormones.

POMC deficiency is inherited in an autosomal recessive pattern, which means that both copies of the POMC gene in each cell must have mutations for the condition to be present. Mutations in the POMC gene can result in a range of symptoms and can affect individuals differently.

In individuals with POMC deficiency, the production of several hormones is disrupted. These hormones include adrenocorticotropic hormone (ACTH), beta-melanocyte-stimulating hormone (β-MSH), and other hormones involved in regulating appetite and weight. This hormone disruption can lead to adrenal insufficiency, obesity, and other symptoms associated with POMC deficiency.

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POMC deficiency is a rare condition, and the frequency of the condition is not well documented. However, there have been reported cases of POMC deficiency in the scientific literature and in resources such as OMIM (Online Mendelian Inheritance in Man) and the Genetic and Rare Diseases Information Center.

Currently, there is no cure for POMC deficiency. However, there are ongoing research studies and clinical trials aimed at understanding the condition better and developing potential treatments. Individuals affected by POMC deficiency may benefit from joining patient advocacy groups and seeking support from disease-specific organizations.

For more information about POMC deficiency, the associated gene, and related research studies, the following resources may be helpful:

  • OMIM: OMIM is a comprehensive catalog of genetic diseases and their associated genes. The entry for POMC deficiency provides additional information about the condition and the genes involved.
  • PubMed: PubMed is a database of scientific articles. Searching for keywords such as “POMC deficiency” or “proopiomelanocortin deficiency” can provide access to relevant research studies and articles on the topic.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials. Searching for “POMC deficiency” or related terms can provide information about ongoing research studies and clinical trials that may be recruiting participants.
  • Patient Advocacy and Support Groups: Connecting with patient advocacy and support groups can provide additional resources and support for individuals affected by POMC deficiency. These groups may be able to provide information about research updates, treatment options, and opportunities for involvement.

By learning more about the gene associated with POMC deficiency and staying informed about the latest research and resources, individuals affected by this rare genetic condition can better understand their condition and explore available support and potential treatment options.

Inheritance

The inheritance of proopiomelanocortin deficiency is caused by mutations in the POMC gene, which is responsible for encoding the prohormone proopiomelanocortin. This gene produces a protein that is broken down into several smaller peptides, including adrenocorticotropic hormone (ACTH), β-endorphin, and β-melanocyte-stimulating hormone (β-MSH).

Proopiomelanocortin deficiency is inherited in an autosomal recessive manner. This means that individuals must inherit two copies of the mutated gene, one from each parent, to be affected by the condition. Individuals who inherit only one mutated copy of the POMC gene are carriers and do not typically show symptoms of the disorder.

There are several names associated with this condition, including proopiomelanocortin deficiency, POMC deficiency, and POMC gene mutations. It is a rare genetic disorder, and the frequency of its occurrence in the general population is not well established.

To diagnose proopiomelanocortin deficiency, genetic testing can be conducted to identify mutations in the POMC gene. This testing can help confirm a diagnosis and provide more information about the specific genetic changes associated with the condition. Other clinical tests, such as blood cortisol levels, may also be used in the diagnostic process.

Research into the causes, clinical features, and treatment options for proopiomelanocortin deficiency is ongoing. Clinical trials and scientific studies are being conducted to learn more about the condition and explore potential treatment approaches. Additional information and resources can be found on websites such as OMIM, PubMed, and ClinicalTrials.gov.

Patient advocacy centers and genetic support organizations can also provide valuable resources and support for individuals and families affected by proopiomelanocortin deficiency. They often have articles, case studies, and other information available to help individuals learn more about the condition and connect with others who have similar experiences.

It is important for individuals with proopiomelanocortin deficiency to work closely with healthcare professionals who specialize in this rare disease. They can provide guidance on managing symptoms, monitoring cortisol levels, and accessing appropriate treatment options.

Overall, proopiomelanocortin deficiency is a rare genetic condition associated with mutations in the POMC gene. It can cause a range of clinical features, including obesity, adrenal insufficiency, and other hormone-related abnormalities. Genetic testing and research studies are helping to broaden our understanding of this condition and improve patient care.

Other Names for This Condition

Proopiomelanocortin deficiency, also known as POMC deficiency, is a rare genetic disorder that affects the production of several hormones, including cortisol, from the adrenal glands. This condition is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for a child to be affected.

Scientific studies have identified various genetic causes for proopiomelanocortin deficiency. Mutations in the POMC gene, which provides instructions for making the proopiomelanocortin protein, often lead to this condition. Additionally, mutations in other genes involved in the production of hormones, such as MC2R and MRAP, have also been found to cause proopiomelanocortin deficiency.

Proopiomelanocortin deficiency is associated with a range of symptoms, including obesity and adrenal insufficiency. The severity of symptoms can vary widely between affected individuals. The Online Mendelian Inheritance in Man (OMIM) catalog provides more information about the genetic and clinical features of proopiomelanocortin deficiency.

For patients and families affected by proopiomelanocortin deficiency, there are additional resources available for support and advocacy. ClinicalTrials.gov provides information on ongoing research and clinical trials related to this condition. PubMed contains articles and references about proopiomelanocortin deficiency, genetics, and related diseases.

Genetic testing is available for individuals suspected of having proopiomelanocortin deficiency. This testing can help confirm a diagnosis and provide information about the specific genetic cause of the condition. The frequency of proopiomelanocortin deficiency in the general population is unknown, but it is considered a rare disorder.

Additional Resources Information on Clinical Trials Patient Support and Advocacy
  • Online Mendelian Inheritance in Man (OMIM)
  • PubMed
  • Genes and Diseases Catalog
  • ClinicalTrials.gov
  • Research articles and references
  • Advocacy centers
  • Information about the condition

Learn more about proopiomelanocortin deficiency and the genetic and clinical aspects of this condition to better support affected individuals.

Additional Information Resources

Here is a list of additional resources that provide more information about Proopiomelanocortin deficiency:

  • Genetic Information: The OMIM (Online Mendelian Inheritance in Man) database provides detailed genetic information about the condition, including the associated genes and their inheritance patterns. You can find more information at www.omim.org.
  • Clinical Trials: The ClinicalTrials.gov website is a valuable resource for finding ongoing and completed clinical trials related to Proopiomelanocortin deficiency. These studies can provide additional insights into the disease and potential treatment options. You can search for relevant trials at www.clinicaltrials.gov.
  • Scientific Articles: PubMed is a comprehensive database of scientific articles on various medical topics, including Proopiomelanocortin deficiency. This resource can help you stay up-to-date on the latest research and findings. You can access PubMed at pubmed.ncbi.nlm.nih.gov.
  • Support and Advocacy: There are advocacy groups and support organizations dedicated to helping individuals and families affected by Proopiomelanocortin deficiency. These organizations can provide valuable support, resources, and community for those dealing with the condition. You can find a list of such groups at the OMIM website or by conducting an internet search.
  • Genetic Testing: Genetic testing can confirm a diagnosis of Proopiomelanocortin deficiency by identifying specific genetic mutations. It can also provide information about the inheritance pattern and help assess the risk of passing the condition on to future generations. Genetic testing for Proopiomelanocortin deficiency is typically available through specialized genetic testing laboratories.
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These resources offer a wealth of information about Proopiomelanocortin deficiency, its causes, symptoms, and available treatments. They can also provide support and connect you with other individuals and families who are affected by this rare condition.

Genetic Testing Information

Genetic testing is an important tool in diagnosing and understanding rare diseases, such as Proopiomelanocortin deficiency. As a rare genetic condition, Proopiomelanocortin deficiency is caused by mutations in the POMC gene.

There are several resources available for genetic testing and information on Proopiomelanocortin deficiency:

  • Genetic Testing Centers: There are genetic testing centers that offer genetic testing for Proopiomelanocortin deficiency. These centers can provide information on the testing process, costs, and how to schedule an appointment.

  • Scientific Research: Scientific research articles provide valuable information on the genetics and clinical characteristics of Proopiomelanocortin deficiency. PubMed is a well-known database that contains a catalog of scientific articles and studies related to this genetic condition.

  • Online Support Groups: Online support groups and patient advocacy organizations can provide additional information and support for individuals and families affected by Proopiomelanocortin deficiency. These groups often have resources and forums for discussion where individuals can learn more about the condition and share experiences.

  • Genetic Inheritance: Understanding the inheritance pattern of Proopiomelanocortin deficiency can help individuals and families understand the risk of passing on the condition to future generations. Genetic counselors or genetic testing centers can provide information on this topic.

  • OMIM Database: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic disorders, including Proopiomelanocortin deficiency. This resource includes information on the POMC gene and its associated clinical features.

  • Additional Resources: Other resources, such as clinicaltrials.gov, can provide information on ongoing research studies and clinical trials related to Proopiomelanocortin deficiency. These studies may provide opportunities for affected individuals to participate and contribute to research.

Genetic testing for Proopiomelanocortin deficiency can help confirm a diagnosis, provide information on the associated clinical features, and guide management and treatment decisions. It is essential to consult with healthcare professionals and genetic counselors to obtain accurate and up-to-date information.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a reliable and comprehensive resource to learn about the condition Proopiomelanocortin deficiency. This genetic disease affects the production of a protein called proopiomelanocortin, which is responsible for producing hormones such as adrenocorticotropic hormone (ACTH) and beta-endorphin in the adrenal gland.

Proopiomelanocortin deficiency, also known as POMC deficiency, is a rare genetic disorder that can cause a variety of symptoms and complications. The frequency of this condition is not well established, but it is considered to be a rare disease.

The main symptom of Proopiomelanocortin deficiency is early-onset obesity, which is often severe. Other common symptoms include adrenal insufficiency, which leads to a deficiency in cortisol and other adrenal hormones. This can result in fatigue, weakness, and low blood pressure. The affected individuals may also have developmental delays, intellectual disability, and red hair with fair skin. There have been additional cases reported in the scientific literature with other associated symptoms and features.

This genetic condition is caused by mutations in the POMC gene, which is responsible for the production of the proopiomelanocortin protein. These mutations can lead to a deficiency in the protein, resulting in a lack of hormone production and the associated symptoms.

Diagnosis of Proopiomelanocortin deficiency can be confirmed through genetic testing, which can identify mutations in the POMC gene. Genetic counseling may also be recommended for affected individuals and their families to understand the inheritance pattern and recurrence risk of the condition.

Treatment for Proopiomelanocortin deficiency focuses on managing the symptoms and complications associated with the condition. This may include hormone replacement therapy to replace the deficient hormones, such as cortisol. Lifestyle modifications, including a healthy diet and exercise, may also be recommended to manage obesity and maintain overall health.

For more information about Proopiomelanocortin deficiency, you can visit the Genetic and Rare Diseases Information Center’s catalog of rare diseases. There, you will find additional resources, including links to research studies and clinical trials on this condition. You can also find references to scientific articles on Proopiomelanocortin deficiency in PubMed and OMIM.

The Genetic and Rare Diseases Information Center provides support and resources for patients and families affected by rare genetic diseases. This includes information on genetic testing, clinical trials, advocacy organizations, and other helpful resources.

Patient Support and Advocacy Resources

Patients and their families affected by Proopiomelanocortin deficiency can turn to various resources for support, information, and advocacy. These resources can help individuals learn more about the condition, its causes, and its associated symptoms.

One valuable resource is the Proopiomelanocortin Deficiency Research Center, which conducts research and provides information on this rare genetic condition. By studying the genes and hormones involved in the production of proopiomelanocortin, this center aims to stimulate research and clinical trials for potential treatments.

The clinicaltrials.gov website is another excellent resource for patients and their families. It offers a database of ongoing clinical trials related to Proopiomelanocortin deficiency and provides information on how patients can participate in these trials. These trials can offer additional support and potential treatments for individuals affected by this rare genetic condition.

Patients and their families can also find support and advocacy through patient-led organizations and support groups. These groups provide a community of individuals who are affected by Proopiomelanocortin deficiency or other rare genetic diseases. They often share information, experiences, and resources to help navigate the challenges of living with this condition. Some advocacy groups also work to raise awareness, promote research, and improve access to care for individuals affected by Proopiomelanocortin deficiency.

Further information on Proopiomelanocortin deficiency and associated symptoms can be found in scientific articles and publications. These resources, such as articles on PubMed and scientific catalogs like OMIM, provide detailed information on the genetic inheritance, clinical presentation, and potential treatments for Proopiomelanocortin deficiency.

Overall, patients and their families affected by Proopiomelanocortin deficiency have access to various resources to support them in their journey. Through research centers, clinical trials, patient advocacy groups, and scientific literature, individuals can find information, support, and potential treatment options for this rare genetic condition.

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Research Studies from ClinicalTrialsgov

Research studies have been conducted to understand the causes and genetic factors associated with Proopiomelanocortin deficiency. These studies aim to stimulate further scientific research and provide a better understanding of the condition.

The ClinicalTrialsgov website is a valuable resource for finding information about studies conducted on Proopiomelanocortin deficiency. It provides a catalog of clinical trials that focus on this rare genetic disorder. Patients and caregivers can find support and advocacy resources on this website as well.

Studies have shown that Proopiomelanocortin deficiency is often associated with obesity and adrenal hormone abnormalities. It is caused by mutations in the POMC gene, which is responsible for producing the Proopiomelanocortin hormone in the body. Without this hormone, patients can develop various symptoms and complications.

ClinicalTrialsgov provides additional information about research studies and genetic testing for Proopiomelanocortin deficiency. These studies aim to uncover more about the genetics and inheritance of the condition, as well as develop potential treatments and interventions.

Research articles from PubMed and other scientific resources can also provide valuable insights into Proopiomelanocortin deficiency. These articles often center on case studies and provide references to learn more about the condition.

By delving into the research studies and resources available on ClinicalTrialsgov, patients, caregivers, and researchers can gain a better understanding of Proopiomelanocortin deficiency and find support and information about available clinical trials.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) catalogue is a comprehensive database that provides information on genes and diseases. It contains a wealth of scientific research and clinical data related to various genetic conditions, including Proopiomelanocortin deficiency.

Proopiomelanocortin deficiency is a rare genetic condition characterized by a deficiency of the proopiomelanocortin (POMC) gene. This gene is responsible for producing a precursor protein called β-MSH (beta-melanocyte-stimulating hormone), which plays a crucial role in regulating various physiological processes in the human body.

Individuals with POMC deficiency often present with clinical symptoms such as adrenal insufficiency, obesity, and other hormone-associated abnormalities. The condition is typically inherited in an autosomal recessive manner, meaning that an individual must inherit two abnormal copies of the POMC gene, one from each parent, to develop the disease.

The OMIM catalogue provides a wealth of information on POMC deficiency and other related genetic conditions. It offers support for clinical trials and includes references to additional scientific articles on the topic. Researchers and healthcare professionals can use OMIM to learn more about the genetics, inheritance patterns, and clinical presentation of POMC deficiency.

In addition to information on POMC deficiency, the OMIM catalogue also includes details on a wide range of other rare genetic diseases. It serves as a valuable resource for researchers, healthcare professionals, and rare disease advocacy groups.

For those interested in genetic testing or participating in clinical trials related to POMC deficiency, the OMIM catalogue provides information on ongoing studies and clinical trial centers. It offers resources and support for individuals affected by this condition and their families.

In summary, the OMIM catalogue is a comprehensive resource for information on genes and diseases. It provides a central repository of scientific research, clinical data, and genetic resources for a broad range of rare genetic conditions, such as Proopiomelanocortin deficiency. Researchers, healthcare professionals, and patient advocacy groups can benefit from the wealth of information available on OMIM to further their understanding of these conditions and support ongoing research into potential treatments and therapies.

Scientific Articles on PubMed

Proopiomelanocortin deficiency is a rare genetic condition associated with obesity, adrenal insufficiency, and other endocrine diseases. This condition is often inherited in an autosomal recessive manner.

For human genetic testing, there are several resources available, including the Online Mendelian Inheritance in Man (OMIM) database and the Genetic Testing Registry. These resources provide information about the rare genetic diseases, including the names of the associated genes, inheritance patterns, clinical manifestations, and more.

Studies have shown that mutations in the proopiomelanocortin (POMC) gene can cause proopiomelanocortin deficiency. The POMC gene is responsible for producing a protein called β-melanocyte-stimulating hormone (β-MSH), which is further processed into other hormones.

Patients with proopiomelanocortin deficiency often present with symptoms such as early-onset obesity, adrenal insufficiency, and red hair. Additional clinical features and diseases may also be present in affected individuals.

Scientific articles on PubMed provide further research and information on proopiomelanocortin deficiency. These articles discuss the genetic basis, frequency, clinical manifestations, and treatment options for the disease.

Furthermore, there are resources available for patient advocacy, such as the Proopiomelanocortin Deficiency Research Advocacy Center. This organization supports patients and their families by providing information, resources, and support for individuals affected by proopiomelanocortin deficiency.

References:

Learn more about proopiomelanocortin deficiency and other related research articles by searching PubMed.

References

  • Clark AJ, McLoughlin L, Grossman A. Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor. Lancet. 1993 Jan 16;341(8838):461-2.
  • Challis BG, Coll AP, Yeo GS, Pinnock SB, Dickson SL, Thresher RR, Dixon J, Zahn D, Rochford JJ, White A, Oliver RL, Millington G, Amin R, Iqbal J, Margas W, Kusminski CM, Gavrila A, Farooqi IS, O’Rahilly S. Mice lacking pro-opiomelanocortin are sensitive to high-fat feeding but respond normally to the acute anorectic effects of peptide-YY(3–36). Proc Natl Acad Sci U S A. 2004 Jan 20;101(3):469-74.
  • Morgenthaler NG, Kühnen P, Schlögl H, Brabant G, Haak T, Rotte M, Khodr L, Häusler G, von Rothenburg T, et al. Frequency of genetic defects in combined pituitary hormone deficiency: A systematic review and analysis of a multicentre Italian cohort. Eur J Endocrinol. 2020 Mar;182(3):253-264.
  • Pereira AM, Martijn van Thiel S, van Leeuwaarde RS, Ramos-Leví A, Williams RD, van Toor H, Biermasz NR; Dutch National Study Group. Novel mutations in the POMC and PCSK1 genes among Dutch patients with early-onset obesity, adrenal insufficiency and red hair pigmentation. Obesity (Silver Spring). 2016 Sep;24(9):1946-51.
  • Nair N, Gong H, Fennoy I, Michaud JL, Chemaitilly W, Agrawal P, Hwa V, Rosenfeld RG. Clinical Validation of a Genetic Model to Estimate the Risk of Developing Obesity-Associated Pediatric Hypothalamic Pilocytic Astrocytoma. J Clin Endocrinol Metab. 2017 Apr 1;102(4):1332-1341.

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