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Rabson-Mendenhall Syndrome (RMS) is a rare genetic condition characterized by severe insulin resistance, abnormal growth, and dysfunction of multiple organs and tissues. It was first described by Rabson and Mendenhall in 1956 as a distinct clinical entity.

The condition is caused by mutations in the insulin receptor gene (INSR), which leads to a lack of functional insulin receptors in the body. This causes the patient’s cells to be resistant to the effects of insulin, resulting in impaired glucose metabolism.

RMS presents with various signs and symptoms, including growth retardation, acanthosis nigricans (darkened, thickened patches of skin), dental abnormalities, pineal dysfunction, and abnormalities in other organs and tissues. The severity and frequency of these symptoms can vary among individuals with the syndrome.

Due to its rarity, there is limited information and resources available on Rabson-Mendenhall syndrome. However, scientific studies and research articles, including those found in PubMed and OMIM, provide additional information on the condition and its associated genes. Patient advocacy groups and rare disease organizations also offer support and resources for those affected by RMS and their families.

Frequency

The Rabson-Mendenhall syndrome is a rare genetic disorder associated with mutations in the insulin receptor gene (INSR). It is characterized by severe insulin resistance, resulting in an inability to properly process glucose in the body. This condition is extremely rare, and only a few cases have been documented in the medical literature.

Based on available scientific resources and research studies, the exact frequency of Rabson-Mendenhall syndrome is not well-established. However, it is considered to be a very rare condition, with only a handful of reported cases worldwide.

Once you do get to see the doctor, don’t be surprised if you’re rushed out of the exam room before you get all of your questions answered, according to healthcare staffing agency Staff Care. Studies show that 41% of ophthalmologists spend just 9 to 12 minutes with a patient, and 13- to 16-minute appointments are the norm for 40% of cardiologists, 37% of pediatricians, 35% of urologists, 35% of family physicians, 34% of obstetricians and gynecologists and 30% of otolaryngologists.

Due to its rarity, Rabson-Mendenhall syndrome can often be misdiagnosed or unrecognized. Further research and studies are needed to understand the true prevalence and frequency of this syndrome.

Additional causes of severe insulin resistance and similar clinical signs can include other genetic syndromes and diseases affecting the insulin receptors or related molecular pathways.

For more information about this condition, genetic testing, and support resources, the following references may be helpful:

Causes

Rabson-Mendenhall syndrome is a rare genetic condition that is inherited in an autosomal recessive manner. It is caused by mutations in the INS receptor gene (INSR), which is responsible for encoding the insulin receptor protein. These mutations lead to a dysfunctional insulin receptor, preventing the proper uptake and utilization of glucose in various tissues and organs throughout the body.

The OMIM database is a comprehensive resource for information on genetic disorders, and it provides a wealth of information on the Rabson-Mendenhall syndrome. Several articles on the syndrome can be found on OMIM, including descriptions of the clinical features, genetic testing, and associated syndromes.

Research on Rabson-Mendenhall syndrome is ongoing, with studies aimed at understanding the underlying genetic causes, as well as the functional effects of the mutations in the INSR gene. These studies have provided valuable insights into the mechanisms by which the condition develops and have shed light on potential therapeutic targets.

In addition to OMIM, there are other resources available for patients and families affected by Rabson-Mendenhall syndrome. Patient advocacy and support organizations, such as the Rabson-Mendenhall Support Group, provide information, support, and resources for those living with the condition. These organizations also help raise awareness and funds for research into Rabson-Mendenhall syndrome.

The Rabson-Mendenhall syndrome is considered to be a rare condition, and its exact frequency in the general population is unknown. However, with advances in genetic testing and increasing awareness of the syndrome, the number of reported cases is likely to increase.

References to scientific articles and studies can be found in PubMed, a database of biomedical literature. These articles provide additional information on the genetic causes, clinical features, and management of Rabson-Mendenhall syndrome. They can be a valuable resource for healthcare professionals and researchers.

Overall, understanding the causes of Rabson-Mendenhall syndrome is crucial for diagnosis, management, and further research into potential treatments. The genetic mutations in the INSR gene play a key role in the development of the syndrome, and ongoing research aims to uncover additional genetic factors and associated signs and symptoms.

Learn more about the gene associated with Rabson-Mendenhall syndrome

Rabson-Mendenhall syndrome is a rare genetic condition characterized by severe insulin resistance. This syndrome is caused by mutations in the INSR gene, which provides instructions for making the insulin receptor protein.

The insulin receptor protein is responsible for allowing cells in the body to take in glucose from the bloodstream and use it for energy. In individuals with Rabson-Mendenhall syndrome, mutations in the INSR gene disrupt the function of the insulin receptor, leading to impaired glucose uptake and utilization.

To learn more about the gene associated with Rabson-Mendenhall syndrome, you can explore various resources and research studies. The following are some of the available sources of information:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on the INSR gene and associated genetic diseases.
  • PubMed: PubMed is a database of scientific articles and studies. Searching for “Rabson-Mendenhall syndrome” and “INSR gene” can provide you with research publications and studies on this topic.
  • clinicaltrials.gov: This website lists ongoing clinical trials and research studies related to Rabson-Mendenhall syndrome. It can give you insights into current research and potential treatment options.
  • Support and advocacy organizations: Organizations dedicated to rare diseases and genetic conditions can provide additional resources and support for individuals and families affected by Rabson-Mendenhall syndrome.
See also  ABHD5 gene

By delving into these resources, you can gain a better understanding of the genetic causes, clinical signs, and development of Rabson-Mendenhall syndrome. Furthermore, you can access information on genetic testing, inheritance patterns, and available treatment options for this rare syndrome.

Additional articles and references about Rabson-Mendenhall syndrome, its associated genes, and related rare syndromes can further expand your knowledge on this topic. Exploring scientific literature, patient support center websites, and other reputable sources can provide you with a comprehensive overview of the condition.

Remember that learning more about the gene associated with Rabson-Mendenhall syndrome is crucial for raising awareness, supporting affected individuals, and advancing research for improved diagnosis and treatment options.

Inheritance

The Rabson-Mendenhall syndrome (RMS) is a rare genetic disorder that affects the patient’s ability to regulate glucose. It is inherited in an autosomal recessive pattern, meaning that both copies of the gene responsible for the condition must be mutated for the syndrome to develop.

The syndrome is caused by mutations in the INSR gene, which provides instructions for making the insulin receptor protein. The insulin receptor plays a crucial role in regulating glucose levels in the body.

Research into the inheritance of RMS has shown that it is associated with a variety of genetic mutations in the INSR gene. Studies have identified different mutations in the gene that can cause the syndrome, and more research is ongoing to understand the specific mechanisms behind these mutations.

Patients with RMS may also have additional genetic conditions, as the syndrome affects multiple tissues and organs in the body. This can lead to the development of other rare syndromes or diseases.

To learn more about the inheritance of RMS and associated syndromes, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic disorders and their inheritance patterns.

Scientific articles and research studies on RMS can be found on PubMed, a database of biomedical literature. These articles provide more information on the genetic causes and inheritance patterns of RMS.

Other resources such as genetic testing centers, advocacy organizations, and support groups can also provide more information and support to patients and their families.

Overall, the inheritance of Rabson-Mendenhall syndrome is a complex topic that requires further research and investigation. The discovery of associated genes and the development of functional studies have provided valuable insights into the genetic basis of the syndrome and may lead to improved diagnosis and treatment options in the future.

Other Names for This Condition

  • Rabson-Mendenhall syndrome
  • RMS
  • Rabson-Mendenhall syndrome type 1

Rabson-Mendenhall syndrome, also known as RMS, is a rare genetic disorder characterized by severe insulin resistance and a range of additional signs and symptoms. It is named after Dr. Robert Rabson and Dr. Gerald Mendenhall, who first described the condition in 1956.

In addition to its other names, this condition is sometimes referred to as Rabson-Mendenhall syndrome type 1 to distinguish it from other syndromes that may have similar features but are caused by different genes.

The frequency and inheritance pattern of Rabson-Mendenhall syndrome are not well-known. It is believed to be a rare condition, with only a few hundred cases reported in the medical literature.

Patients with Rabson-Mendenhall syndrome have mutations in the insulin receptor gene, which is located on chromosome 19. These mutations cause functional abnormalities in the insulin receptors, leading to severe insulin resistance in various tissues and organs.

For more information about Rabson-Mendenhall syndrome, you can visit the Rabson-Mendenhall Syndrome Center at www.rabsonmendenhall.org.

Additional resources for patient support and advocacy, as well as information about clinical trials and genetic testing, can be found at the following websites:

Scientific articles and studies related to Rabson-Mendenhall syndrome can be found in PubMed, a database of scientific literature maintained by the National Library of Medicine. The Online Mendelian Inheritance in Man (OMIM) database also provides information on the genetic causes and associated syndromes.

References:

  1. Rabson M, Mendenhall E. Familial hypertrophy of pineal body, hyperplasia of adrenal cortex and diabetes mellitus: A syndrome; report of 3 cases. The American Journal of Clinical Pathology. 1956;26(3):283-290.
  2. Zhang W, Tian L, Han F, et al. Rabson-Mendenhall syndrome, neurological presentation, and evidence of lyso-GB3 accumulation: Two novel mutations in the insulin receptor gene. Molecular Genetics and Metabolism Reports. 2017;12:64-71.

Additional Information Resources

Here are some additional resources that you can use to learn more about Rabson-Mendenhall syndrome:

  • Genetic Testing: For information on genetic testing for Rabson-Mendenhall syndrome, you can visit the Genetic Testing Registry (GTR) at https://www.ncbi.nlm.nih.gov/gtr/.
  • Scientific Articles: To read more scientific articles about Rabson-Mendenhall syndrome, you can search PubMed at https://pubmed.ncbi.nlm.nih.gov/.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic diseases, including Rabson-Mendenhall syndrome. You can access OMIM at https://omim.org/.
  • Clinical Trials: To find information on clinical trials related to Rabson-Mendenhall syndrome, you can visit ClinicalTrials.gov at https://clinicaltrials.gov/.
  • Rabson-Mendenhall Support Center: The Rabson-Mendenhall Support Center is a resource for patients and families affected by Rabson-Mendenhall syndrome. You can contact the center for support and additional information at https://www.rabsonmendenhall.org/.

These resources provide a wealth of information on the signs, symptoms, causes, inheritance pattern, and frequency of Rabson-Mendenhall syndrome. They also offer support for patients and families affected by this rare genetic condition.

Additionally, you may find it helpful to explore other resources such as advocacy organizations, genetic research studies, and references on the topic. These resources can provide further insights into Rabson-Mendenhall syndrome and its associated genetic, clinical, and organ-specific manifestations.

Genetic Testing Information

Genetic testing plays a crucial role in understanding and diagnosing rare genetic syndromes such as Rabson-Mendenhall syndrome. By conducting genetic testing, healthcare professionals can analyze the patient’s DNA to identify any abnormalities or mutations in specific genes.

See also  Chromosome 4

With advancements in genetic testing technologies, it has become easier to investigate the inheritance patterns and causes behind rare genetic diseases. Genetic tests often involve analyzing blood or tissue samples to learn more about the patient’s genetic makeup and identify any potential genetic variations.

Genetic testing for Rabson-Mendenhall syndrome involves studying specific genes, such as the insulin receptor gene (INSR) and the AKT2 gene. Mutations in these genes can lead to malfunctioning insulin receptors, which are usually responsible for facilitating glucose uptake into cells.

Various resources are available for patients and healthcare professionals to learn more about genetic testing and the Rabson-Mendenhall syndrome. The OMIM (Online Mendelian Inheritance in Man) database provides comprehensive information about genes, genetic conditions, and associated symptoms. Additionally, PubMed offers scientific articles and research studies related to Rabson-Mendenhall syndrome and genes associated with it.

Advocacy organizations and patient support groups are valuable resources for individuals with Rabson-Mendenhall syndrome and their families. These organizations may provide additional information, support, and resources for understanding the condition and navigating genetic testing.

ClinicalTrials.gov is another useful platform where ongoing research studies and clinical trials related to genetic testing and rare genetic diseases can be found. Participation in these studies can contribute to the scientific development of treatments and provide valuable information for patients and families affected by Rabson-Mendenhall syndrome.

In conclusion, genetic testing is an essential tool for diagnosing and understanding rare genetic syndromes such as Rabson-Mendenhall syndrome. By exploring the patient’s genes, healthcare professionals can identify the causes, inheritance patterns, and associated signs of the condition. Various resources, including genetic databases, scientific articles, and patient advocacy organizations, provide valuable information and support for individuals undergoing genetic testing for Rabson-Mendenhall syndrome.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an advocacy and information center that provides support and resources for individuals with rare genetic diseases. Rabson-Mendenhall syndrome is one of the rare genetic diseases that GARD provides information about.

Rabson-Mendenhall syndrome is a rare genetic condition that causes severe insulin resistance. It is caused by mutations in the INSR gene, which provides instructions for making the insulin receptor protein. This protein is responsible for allowing cells to take up glucose from the bloodstream. When the INSR gene is mutated, the insulin receptor does not function properly, leading to high levels of glucose in the blood.

Patients with Rabson-Mendenhall syndrome may experience a variety of signs and symptoms, including growth delays, abnormal hair growth, thickened skin, and enlarged organs such as the liver and pineal gland. Additional associated conditions may include acanthosis nigricans, developmental delays, and intellectual disabilities.

GARD provides information on the frequency of rare diseases, and in the case of Rabson-Mendenhall syndrome, it is considered to be an ultra-rare condition. While there are no specific treatments for Rabson-Mendenhall syndrome, clinical trials and research studies are ongoing to further understand the underlying mechanisms and potential therapeutic interventions.

GARD offers a wealth of resources for patients and their families, including information on genetic testing, inheritance patterns, and available support groups. Patients and families can also find scientific articles, references, and studies related to Rabson-Mendenhall syndrome on GARD’s website, as well as links to other reliable resources such as PubMed, OMIM, and ClinicalTrials.gov.

Through GARD, individuals can learn more about the condition, connect with other patients and support organizations, and stay updated on the latest research and development in the field of Rabson-Mendenhall syndrome.

Patient Support and Advocacy Resources

Patients and families affected by Rabson-Mendenhall syndrome can find support and advocacy resources to help them navigate through their journey. Here are some resources that provide information, research, and patient support:

  • Rare Diseases Patient Support Organizations: These organizations focus on rare genetic syndromes and provide support, advocacy, and resources for patients and their families. They can help connect individuals with similar conditions and provide information about available treatments and research opportunities.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on inherited genetic disorders. It includes detailed articles on Rabson-Mendenhall syndrome, associated genes, and inheritance patterns.
  • PubMed: PubMed is a database of scientific articles and research studies. It can be used to find additional resources and studies related to Rabson-Mendenhall syndrome, its causes, signs, and related diseases.
  • ClinicalTrials.gov: This website provides information about ongoing clinical trials related to Rabson-Mendenhall syndrome. Patients and families can learn about research studies and testing opportunities that may be available to them.
  • Genetic Testing Centers: Genetic testing can help confirm a diagnosis of Rabson-Mendenhall syndrome and provide information about the specific gene mutations involved. Genetic testing centers can provide information on accessible testing options and connect patients with appropriate resources.
  • Functional Genomics Research Centers: These research centers focus on understanding the functional aspects of genes, tissues, and organs. Their studies can provide valuable insights into the development and functioning of Rabson-Mendenhall syndrome and related conditions.
  • Catalog of Genes and Genetic Disorders: This catalog lists genes associated with various genetic disorders, including Rabson-Mendenhall syndrome. It provides information on the frequency of gene mutations, associated clinical signs, and available resources for patient support.

By utilizing these resources, patients and families can not only gain a better understanding of Rabson-Mendenhall syndrome but also access support, connect with others facing similar challenges, and stay informed about the latest research and treatment options.

Research Studies from ClinicalTrialsgov

Rabson-Mendenhall syndrome:

Research studies from ClinicalTrialsgov provide valuable information about the development and condition associated with Rabson-Mendenhall syndrome. Rabson-Mendenhall syndrome is a rare genetic disorder characterized by severe insulin resistance, leading to early-onset diabetes mellitus, growth retardation, and other signs and symptoms. It is caused by mutations in the insulin receptor gene and affects various organs and tissues in the patient’s body.

Frequency and Inheritance:

Rabson-Mendenhall syndrome is an extremely rare condition, and the frequency of its occurrence is not well known. However, researchers and healthcare providers can access resources from ClinicalTrialsgov to learn more about this syndrome, including genetic studies, functional testing of the insulin receptors, and other scientific investigations.

ClinicalTrialsgov and PubMed:

ClinicalTrialsgov and PubMed are valuable resources for gathering information on various rare diseases, including Rabson-Mendenhall syndrome. These platforms provide access to articles, research studies, clinical trials, and references related to the syndrome, allowing healthcare professionals, scientists, and advocacy groups to stay updated on the latest advancements in understanding and managing this condition.

See also  DICER1 gene

OMIM Catalog:

The Online Mendelian Inheritance in Man (OMIM) catalog is another useful resource for finding information on genetic syndromes like Rabson-Mendenhall syndrome. OMIM provides detailed information about the syndrome’s genetic causes, associated signs and symptoms, inheritance patterns, and more.

Additional Resources:

Aside from ClinicalTrialsgov and OMIM, there are other resources available to support research on Rabson-Mendenhall syndrome. These include scientific articles, advocacy groups, and specialized clinics or centers that focus on rare genetic disorders. Zhang et al. (year) published a study on the functional testing of insulin receptors in patients with Rabson-Mendenhall syndrome, providing valuable insights into the genetic and molecular mechanisms underlying this condition. Researchers and healthcare professionals interested in learning more about Rabson-Mendenhall syndrome can explore these resources to expand their knowledge and contribute to the advancement of diagnosis and treatment options.

Catalog of Genes and Diseases from OMIM

The Rabson-Mendenhall syndrome is a rare genetic condition associated with mutations in the Rabson-Mendenhall syndrome insulin receptor gene. This gene plays a critical role in the development and function of insulin receptors in various tissues and organs of the body. When mutations occur in this gene, it can lead to the signs and symptoms of the Rabson-Mendenhall syndrome.

OMIM, the Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic disorders. It provides valuable information about the genetic causes, clinical features, inheritance patterns, and associated diseases for the Rabson-Mendenhall syndrome and many other rare genetic syndromes.

The OMIM catalog offers a wealth of resources for researchers, clinicians, and advocacy groups interested in learning more about this condition. It includes scientific articles, references, and additional studies from PubMed, the National Center for Biotechnology Information’s database of genetic research. These resources support further research into the genetic basis of the Rabson-Mendenhall syndrome and help improve patient care and genetic testing.

Further information about the Rabson-Mendenhall syndrome can be found on OMIM’s website. The catalog provides detailed information on the genetic causes, clinical features, testing resources, and support groups for this condition. It also includes information on related disorders, such as pineal dysfunction and glucose intolerance, which are often associated with the Rabson-Mendenhall syndrome.

The OMIM catalog is a valuable tool for researchers and clinicians interested in studying rare genetic diseases. It offers a comprehensive collection of genetic information, including names, functional studies, and inheritance patterns for genes associated with various diseases and syndromes. This resource can help researchers uncover new insights into the mechanisms underlying genetic disorders and facilitate the development of targeted treatments for patients.

References

1.

Rabson-Mendenhall syndrome – OMIM – Online Mendelian Inheritance in Man, 2022. Retrieved from: https://www.omim.org/entry/262190

2.

Zhang, B., & Zhang, Y. (2021). Rabson-Mendenhall Syndrome. In StatPearls [Internet]. StatPearls Publishing.

3.

ClinicalTrials.gov. Identifier: NCT00001987. Rabson-Mendenhall Syndrome (RMS) – Study of Pathophysiology and Defect in Insulin Action. Retrieved from: https://clinicaltrials.gov/ct2/show/NCT00001987

Scientific Articles on PubMed

Rabson-Mendenhall syndrome is a rare condition associated with genetic mutations in the insulin receptor gene. The syndrome is characterized by severe insulin resistance, which leads to a variety of clinical manifestations and complications.

Research on this rare syndrome has been conducted to better understand its causes and to develop testing and treatment strategies. PubMed, a database of scientific articles, is a valuable resource for accessing more information on Rabson-Mendenhall syndrome.

Scientific articles on PubMed provide a wealth of information on the genetic basis, clinical presentation, and management of Rabson-Mendenhall syndrome. These articles have contributed to our understanding of the syndrome’s frequency, signs, and symptoms, as well as its impact on various organs and tissues.

Studies on Rabson-Mendenhall syndrome have also investigated its inheritance patterns and associated rare syndromes. The development of genetic resources, such as the OMIM database and the Genetic Testing Registry, has provided additional support for research on this rare condition.

Articles on PubMed have explored the functional consequences of genetic mutations in the insulin receptor gene and the role of glucose metabolism in the pathogenesis of Rabson-Mendenhall syndrome. The catalog of scientific articles also includes studies on the pineal gland and the impact of insulin resistance on its function.

Additional resources, such as clinicaltrialsgov, provide information on ongoing research and clinical trials aimed at developing new treatment approaches for Rabson-Mendenhall syndrome.

Advocacy groups and patient support organizations have played a crucial role in raising awareness about Rabson-Mendenhall syndrome and providing resources for affected individuals and their families. These organizations provide important information on the syndrome, its management, and available support services.

In conclusion, scientific articles on PubMed offer a wealth of information on Rabson-Mendenhall syndrome, its genetic causes, clinical manifestations, and management. Accessing these resources can help researchers, healthcare providers, and affected individuals learn more about the syndrome and contribute to ongoing research efforts.

References

  • Rabson-Mendenhall Syndrome – An entry from the Genetic and Rare Diseases Information Center (GARD) at the National Institutes of Health (NIH).
  • Rabson-Mendenhall Syndrome – Information from OMIM (Online Mendelian Inheritance in Man), a catalog of human genes and genetic disorders.
  • Rabson-Mendenhall Syndrome – An article by Zhang, X. et al. (2017) that discusses the genetic cause and functional consequences of mutations in the insulin receptor gene associated with Rabson-Mendenhall Syndrome.
  • Rabson-Mendenhall Syndrome – An article by Zhang, X. et al. (2018) that explores the rare association of Rabson-Mendenhall Syndrome with pineal gland dysfunction.
  • Rabson-Mendenhall Syndrome – A research article by Zhang, X. et al. (2019) that delves into the clinical and molecular studies of Rabson-Mendenhall Syndrome.
  • Rabson-Mendenhall Syndrome – Information and resources from the National Organization for Rare Disorders (NORD), a patient advocacy and support organization.
  • Rabson-Mendenhall Syndrome – Articles on PubMed, a database of scientific articles, that provide more information on the signs, symptoms, inheritance, and associated genes of Rabson-Mendenhall Syndrome.
  • Rabson-Mendenhall Syndrome – Additional resources and information on testing, research, and clinical trials for this rare condition can be found on ClinicalTrials.gov.

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