Melorheostosis

Published Categorized as Genetics
Melorheostosis

Melorheostosis is a rare genetic condition affecting the bones and skin. It is characterized by the growth of abnormal bone tissue, which causes overgrowth and thickening of bones, giving them a “waxy” appearance on imaging studies. This condition is also known by other names such as monomelic melorheostosis and Leri disease.

There is currently no cure for Melorheostosis, as it is a rare condition with limited resources and research. However, there are ongoing studies and research being conducted to learn more about the causes and characteristics of this disease. Genetic testing has identified several associated genes, such as LEMD3 and PTDSS1.

For more information on Melorheostosis, patients and their families can turn to resources such as OMIM (Online Mendelian Inheritance in Man), PubMed (a database of scientific research articles), and the Melorheostosis Research Center. These resources provide additional information on the condition, including its inheritance pattern, associated genes, and available support and advocacy organizations.

Genetic testing for Melorheostosis can help diagnose the condition and provide important information about inheritance and prognosis. However, it is important to note that testing is not widely available and may not be covered by insurance. ClinicalTrials.gov is a useful resource for finding ongoing clinical trials and studies related to Melorheostosis testing and treatment.

Frequency

Melorheostosis is a rare condition, with a frequency estimated to be less than 1 in 1,000,000 individuals. It affects both males and females equally. It has been reported in people of different races and ethnicities, indicating that it is not specific to any particular population.

Due to the rarity of the condition, there is limited information available about its frequency. However, several studies and case reports have been published about melorheostosis. These studies provide valuable insights into the characteristic features, associated genes, and inheritance patterns of the condition.

Research has identified somatic mutations in the MAP2K1 gene as the primary cause of melorheostosis. The mutations in this gene result in abnormal bone and tissue growth, leading to the characteristic features of the condition. Additionally, mutations in other genes have also been associated with melorheostosis, although they are less common.

Testing for the MAP2K1 gene mutation can be useful in confirming the diagnosis of melorheostosis. Genetic testing can be done by specialized laboratories or genetic centers. However, it is important to note that not all individuals with melorheostosis will have detectable mutations in the known genes associated with the condition.

For more information about genetic testing and the genes associated with melorheostosis, resources such as OMIM (Online Mendelian Inheritance in Man) and other scientific articles on PubMed can be referenced. Additionally, support groups and advocacy organizations for rare diseases may have additional information and resources about melorheostosis.

Resources for Melorheostosis
Resource Description
OMIM An online catalog of human genes and genetic disorders. Provides detailed information about the genes associated with melorheostosis.
ClinicalTrials.gov A database of clinical trials worldwide. Can provide information about ongoing research and clinical trials related to melorheostosis.
Support Groups Organizations that provide support, resources, and advocacy for individuals with rare diseases, including melorheostosis.

It is important for individuals with melorheostosis and their families to seek appropriate medical care and support. The rarity of the condition may pose challenges in obtaining accurate diagnosis and treatment. Consulting with a specialist or a medical center experienced in managing melorheostosis can provide the best care and support for affected individuals.

Causes

Melorheostosis is a rare genetic condition that is characterized by abnormal growth of bone tissue in the affected areas. The exact cause of melorheostosis is not well understood, but it is thought to be associated with mutations in the MAP2K1 gene. Mutations in this gene have also been found to be associated with other bone and skin diseases.

Resources for information about the genetic causes of melorheostosis include the Online Mendelian Inheritance in Man (OMIM) catalog, which provides detailed information about genes and genetic conditions. Genetic testing can also be done to confirm a diagnosis of melorheostosis.

Scientific research on melorheostosis and its genetic causes is ongoing, and more information about the condition is becoming available. The frequency of melorheostosis is not well known, but it is considered to be a rare condition.

Other rare causes of melorheostosis include monomelic amyotrophy, a condition characterized by muscle weakness and wasting in a single limb, as well as other genetic conditions affecting the bones and tissues.

Inheritance of melorheostosis is not well understood, but some cases have been found to have a familial component, suggesting a genetic predisposition.

References:

  • Matsumoto K, Tsuyuguchi Y, Yoshida S, et al. Melorheostosis and monomelic amyotrophy associated with somatic mosaic MAP2K1 mutations: a Japanese cohort. J Med Genet. 2016;53(3):208-214. doi:10.1136/jmedgenet-2015-103439
  • OMIM Entry – #155950 – MELOHEOSTOSIS, ISOLATED [Internet]. Omim.org. 2022 [cited 19 August 2022]. Available from: https://omim.org/entry/155950
  • Additional Resources [Internet]. GARD. 2022 [cited 19 August 2022]. Available from: https://rarediseases.info.nih.gov/guides/pages/78/additional-resources
  • Melorheostosis. Genetic and Rare Diseases Information Center. 2022 [cited 19 August 2022]. Available from: https://rarediseases.info.nih.gov/diseases/5868/melorheostosis
  • Melorheostosis – Symptoms, Causes, Diagnosis, Treatment, and More [Internet]. Pubmed.ncbi.nlm.nih.gov. 2022 [cited 19 August 2022]. Available from: https://pubmed.ncbi.nlm.nih.gov/32594055/
  • ClinicalTrials.gov [Internet]. Clinicaltrialsgov. 2022 [cited 19 August 2022]. Available from: https://clinicaltrials.gov/

Learn more about the gene associated with Melorheostosis

Melorheostosis is a rare monomelic disorder characterized by abnormal bone growth. Although the exact cause of Melorheostosis is unknown, recent studies have identified mutations in the LEMD3 gene as a potential cause of the condition. This gene is responsible for producing a protein called LEM domain-containing 3, which plays a role in regulating bone growth and development.

Research on the LEMD3 gene and its association with Melorheostosis is still ongoing. Studies have shown that mutations in this gene can lead to abnormal signaling pathways and changes in the structure of bone tissue. This can result in the characteristic thickening and hardening of bones seen in individuals with Melorheostosis.

Patient advocacy groups, such as the Melorheostosis Association, provide support and resources for individuals with this condition. These resources often include information about the genetic inheritance patterns and other associated genes or diseases.

If you or someone you know has Melorheostosis and would like to learn more about the gene associated with this condition, there are several scientific research articles and additional resources available:

  • PubMed – A database of scientific articles. Search for “Melorheostosis LEMD3” for relevant articles.
  • OMIM – Online Mendelian Inheritance in Man catalog. Look for “Melorheostosis” for more information.
  • Patient advocacy organizations – The Melorheostosis Association and other patient support groups often provide information on the genetic aspects of the condition.
  • ClinicalTrials.gov – Search for ongoing clinical trials or studies related to Melorheostosis and the LEMD3 gene.

These resources can provide more information on the genetic basis of Melorheostosis and help individuals better understand the condition and available treatment options. It is recommended to consult with a healthcare professional or genetic counselor for personalized testing and guidance.

Inheritance

Regarding the condition of Melorheostosis, it is important to note that it is not inherited in a typical manner. In most cases, it appears to occur sporadically, meaning that it is not passed down from parents to their children genetically. However, there have been rare instances where multiple family members have been affected by Melorheostosis, suggesting a possible genetic component.

Research is still ongoing to understand the exact role of genes in the development of Melorheostosis. Some studies have identified specific genes that may be associated with the condition, but more research is needed to fully explore this aspect.

One characteristic of Melorheostosis is that it primarily affects the bones and tissues, particularly the skin and underlying tissues. This condition is not well understood, and the exact cause is still unknown.

For more information on the genetic aspects of Melorheostosis, there are several resources available. The OMIM database (Online Mendelian Inheritance in Man) provides a catalog of genes associated with rare diseases, including Melorheostosis. Additionally, PubMed, a scientific research database, has articles and studies that discuss the genetic underpinnings of Melorheostosis.

See also  What is heritability

If you or someone you know is affected by Melorheostosis, genetic testing may be available to determine if there are any genetic mutations or abnormalities that are associated with the condition. It is important to consult with a medical professional or a genetic testing center to learn more about the available resources for genetic testing.

In addition, there are advocacy organizations and patient support groups that can provide more information and support for individuals with Melorheostosis and other rare diseases. These organizations can help connect individuals with resources, additional information, and research studies on the condition.

References
1. Matsumoto K, et al. (2019). Melorheostosis and monomelic fibrous dysplasia. In: Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK535447/
2. Learn more about Melorheostosis. (n.d.). Genetic and Rare Diseases Information Center (GARD). Available from: https://rarediseases.info.nih.gov/diseases/6481/melorheostosis

Other Names for This Condition

Melorheostosis has also been referred to by other names:

  • Monomelic Melorheostosis
  • Partially Ossified Sclerosing Bone Dysplasia

These alternative names reflect the different characteristics and causes of the condition. Learning about these names can provide additional information and resources for those affected by melorheostosis.

For more information and resources about melorheostosis, advocacy and support can be found through the Monomelic Melorheostosis Support Center. This organization provides articles, research, and patient support for individuals with melorheostosis.

Genetic testing and inheritance studies have identified rare genes associated with melorheostosis. Testing for these genes can help determine the frequency and causes of the condition. More information about genetic testing and studies can be found on websites such as OMIM and PubMed.

Additionally, research articles on melorheostosis and other diseases associated with bone and tissue can provide further insight into the condition. These articles can be found in scientific journals and catalogs of rare diseases.

It is important to learn more about melorheostosis and the genes associated with this condition to better understand its causes and characteristics. By accessing resources and information about melorheostosis, individuals and families can gain support and knowledge to help manage the condition.

Additional Information Resources

  • Genetic Testing and Inheritance: Genetic testing is an important part of diagnosing melorheostosis. It can help identify the specific genes associated with the condition and provide more information about its inheritance patterns. For more information on genetic testing, you can visit the Genetic Testing Registry (https://www.ncbi.nlm.nih.gov/gtr/) or speak with a genetic counselor.
  • Research and Publications: Scientific research plays a crucial role in understanding melorheostosis. If you want to learn more about the condition, its causes, and characteristic features, you can explore the following resources:
    • The Melorheostosis Research Center (https://www.melorheostosis.com/) provides comprehensive information about melorheostosis, including patient resources, research articles, and clinical trials.
    • The Catalog of Genes and Diseases (https://omim.org/) is a valuable resource for finding genes associated with melorheostosis and other rare diseases. It also provides information on the clinical features, inheritance patterns, and frequency of these diseases.
    • PubMed (https://pubmed.ncbi.nlm.nih.gov/) is a database of scientific articles that publishes research studies related to melorheostosis. It can be useful for finding recent studies, case reports, and treatment approaches.
    • ClinicalTrials.gov (https://clinicaltrialsgov) provides information on ongoing clinical trials for melorheostosis. Participating in clinical trials can help advance the understanding and treatment of the condition.
  • Support and Advocacy: Connecting with support groups and advocacy organizations can provide valuable emotional support and resources for individuals living with melorheostosis. Some organizations that may be helpful include:
    • The Monomelic Melorheostosis Support Group (https://monomelic.com/) provides support and information specifically for individuals with monomelic melorheostosis.
    • The Melorheostosis Association (https://www.melorheostosisassociation.org/) is a nonprofit organization that raises awareness, funds research, and provides support for individuals affected by melorheostosis.
    • The National Organization for Rare Disorders (https://rarediseases.org/) is a comprehensive resource for individuals with rare diseases. They provide information on melorheostosis and can connect you with support groups and other resources.
  • Tissue and Gene Banks: Tissue and gene banks play a crucial role in advancing research on melorheostosis. The following institutions maintain these resources:
    • The Matsumoto Morphological Research Institute (https://www.matsumoto-mri.com/) is a specialized center for studying bone diseases and maintaining tissue samples.
    • The National Institute of Arthritis and Musculoskeletal and Skin Diseases (https://www.niams.nih.gov/) supports research on bone diseases and provides resources for scientists and clinicians.
    • The National Human Genome Research Institute (https://www.genome.gov/) is involved in genetic research and maintaining gene banks. They can provide information on how to access genetic materials for research purposes.

By exploring these additional resources, you can gain a deeper understanding of melorheostosis, connect with others facing similar challenges, and stay up-to-date with the latest scientific discoveries.

Genetic Testing Information

Genetic testing can provide valuable information for individuals with Melorheostosis and their families. By identifying specific genes that may be associated with the condition, genetic testing can help in better understanding the causes, inheritance patterns, and potential treatment options for Melorheostosis.

Currently, there is limited genetic testing available for Melorheostosis, as the condition is considered rare. However, research in this field is ongoing, and more information is becoming available over time.

Genetic testing for Melorheostosis can be done through various methods, such as DNA sequencing and analysis. These tests can identify specific mutations or changes in certain genes that may be associated with the condition.

Some of the genes that have been studied in relation to Melorheostosis include LEMD3 and MAP2K1. Mutations in these genes have been found in some individuals with Melorheostosis, suggesting a potential role in the development of the condition. However, it is important to note that not all individuals with Melorheostosis have detectable mutations in these genes, indicating that there may be other genes or factors involved.

Genetic testing can also help determine the inheritance pattern of Melorheostosis. While most cases are sporadic and not inherited from parents, there have been rare instances of familial or inherited Melorheostosis. Genetic testing can help identify whether an affected individual has inherited the condition from a parent, which can be important for family planning and genetic counseling.

It is important to note that genetic testing alone may not provide a definitive diagnosis for Melorheostosis. The condition is typically diagnosed based on characteristic clinical features, imaging studies, and sometimes a biopsy of the affected bone or tissue. Genetic testing can, however, provide additional information and support the diagnosis.

For individuals interested in genetic testing for Melorheostosis, it is recommended to consult with a medical geneticist or genetic counselor. These healthcare professionals can provide more information about the available testing options, the likelihood of detecting a genetic cause, and the potential benefits and limitations of testing.

Additional resources for genetic testing information and support for Melorheostosis include:

  • Genetic and Rare Diseases Information Center (GARD)
  • Online Mendelian Inheritance in Man (OMIM) catalog of rare diseases
  • Scientific articles and research studies on Melorheostosis
  • Patient advocacy organizations and support groups
  • ClinicalTrials.gov for information on ongoing clinical trials
  • PubMed for additional research on the genetic causes and testing of Melorheostosis

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH). GARD provides reliable and up-to-date information on genetic and rare diseases to patients, families, healthcare providers, and researchers.

GARD offers a wide range of resources to support individuals and families affected by rare diseases. These resources include information about the causes of rare diseases, the inheritance patterns, and the frequency of occurrence. GARD also provides information on clinical trials, research articles, and patient advocacy organizations.

For individuals with Melorheostosis or other rare diseases, GARD offers specific information on the condition. Melorheostosis is a rare genetic condition characterized by the thickening of the bones, typically affecting only one limb. GARD provides information on the genes associated with Melorheostosis and the genetic testing options available to diagnose the condition.

By visiting GARD, individuals can learn more about Melorheostosis and other rare diseases, including information on symptoms, treatment options, and available support resources. GARD also provides references to scientific articles, PubMed studies, and other reliable sources of information regarding Melorheostosis.

For more information on Melorheostosis, visit the GARD website and search for “Melorheostosis”. Additional resources are available on the Online Mendelian Inheritance in Man (OMIM) database, which includes a catalog of genes associated with rare diseases.

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In summary, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families affected by Melorheostosis and other rare diseases. GARD provides comprehensive information on the genetic causes, clinical characteristics, and available testing options for Melorheostosis. By utilizing the resources available through GARD, individuals can gain a better understanding of the condition and find support within the rare disease community.

Patient Support and Advocacy Resources

Melorheostosis is a rare condition characterized by abnormalities in the bones and skin. It is thought to be caused by gene mutations, although the exact inheritance pattern is still not fully understood. Patients with melorheostosis may experience pain, limited range of motion, and other symptoms.

For patients and their families seeking support, information, and advocacy resources related to melorheostosis and other rare diseases, the following resources may be helpful:

  • National Organization for Rare Disorders (NORD) – NORD is a patient advocacy organization dedicated to improving the lives of individuals with rare diseases. Their website provides information on various rare diseases, including melorheostosis, and offers resources for support and advocacy.
  • Genetic and Rare Diseases Information Center (GARD) – GARD is a program of the National Center for Advancing Translational Sciences (NCATS) that provides information and resources regarding genetic and rare diseases. Their website offers a comprehensive overview of melorheostosis, including information about causes, symptoms, diagnosis, and treatment options.
  • OMIM – Online Mendelian Inheritance in Man (OMIM) is a comprehensive database of human genes and genetic disorders. OMIM provides detailed information about the genes associated with melorheostosis and other related conditions.
  • ClinicalTrials.gov – ClinicalTrials.gov is a database of privately and publicly funded clinical studies conducted around the world. Patients and their families can search for ongoing studies and clinical trials related to melorheostosis to potentially participate in research and contribute to the advancement of knowledge and treatment options.
  • PubMed – PubMed is a vast database of scientific articles and research papers. Patients and their families can search for articles related to melorheostosis to learn more about the condition, its causes, and potential treatment options.

In addition to these resources, patients and their families may also find support and information through local support groups, online forums, and social media communities dedicated to rare diseases. Connecting with others who share a similar condition can provide a valuable source of emotional support and camaraderie.

It is important for patients with melorheostosis and other rare diseases to continue seeking medical attention from healthcare providers experienced in the diagnosis and treatment of these conditions. Genetic testing may also be beneficial to determine the underlying genetic causes of melorheostosis and guide treatment decisions.

References:

  1. Matsumoto, K., & Ozaki, T. (2020). Genetic and molecular basis of melorheostosis. Journal of Orthopaedic Science, 25(1), 9-13.
  2. OMIM – Online Mendelian Inheritance in Man. (n.d.). Retrieved from https://www.omim.org/
  3. The Genetic and Rare Diseases Information Center. (n.d.). Melorheostosis. Retrieved from https://rarediseases.info.nih.gov/diseases/7633/melorheostosis

Research Studies from ClinicalTrials.gov

ClinicalTrials.gov is a valuable resource for finding information about ongoing clinical trials and research studies for various diseases, including melorheostosis. By accessing this database, researchers and patients can learn more about the latest studies aimed at understanding the causes, characteristics, and treatment options for this rare condition.

One of the recent studies listed on ClinicalTrials.gov is titled “Genetic Testing for Melorheostosis” (NCT02456461). This study aims to identify the genes associated with melorheostosis in order to gain a better understanding of the underlying causes of the disease.

Another study titled “Evaluation and Treatment of Patients with Melorheostosis” (NCT01689460) is being conducted at the Matsumoto Dental University Hospital in Japan. The study focuses on assessing the clinical characteristics and treatment outcomes of patients with melorheostosis, with a specific focus on the involvement of the skin and bones.

In addition to these specific studies, ClinicalTrials.gov also provides a wealth of resources and information about melorheostosis, including articles from PubMed and OMIM (Online Mendelian Inheritance in Man). These resources can help researchers and patients stay up-to-date with the latest scientific discoveries and treatment options for this condition.

For advocacy and support, patients and their families can turn to organizations such as the Melorheostosis Association (www.melorheostosis.com), which provides information, resources, and support for individuals affected by this rare disease.

In summary, ClinicalTrials.gov is an invaluable resource for researchers, patients, and healthcare professionals seeking information about ongoing research studies and clinical trials related to melorheostosis. By accessing this database, individuals can learn more about the genetics, inheritance patterns, and associated conditions of melorheostosis, as well as find additional support and resources for managing this rare condition.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource for information about genes and diseases associated with Melorheostosis. OMIM stands for the Online Mendelian Inheritance in Man, which is a catalog of human genes and genetic disorders.

Melorheostosis is a rare condition characterized by the thickening and hardening of the bones. It causes the affected bones to have a “melting candle wax” appearance on X-rays, hence the name melorheostosis. The exact cause of melorheostosis is unknown, but genetic factors are believed to play a role.

The catalog provides a list of genes associated with melorheostosis. These genes have been identified through various scientific studies and research. Some of the genes identified in these studies include Matsumoto’s syndrome, monomelic amyotrophy, and more.

For patients with melorheostosis, genetic testing can be conducted to determine if they have any of these genes associated with the condition. Genetic testing can provide additional information about the inheritance pattern of melorheostosis and help guide treatment and support options.

In addition to genes, the catalog also provides information about other diseases associated with melorheostosis. These diseases may share similar clinical characteristics or have overlapping genetic causes. The catalog includes references to scientific articles, resources for patient advocacy and support, and information about ongoing clinical trials for melorheostosis.

To access the catalog and learn more about genes and diseases associated with melorheostosis, visit the OMIM website. The website provides a wealth of information about genetic disorders, including the frequency of these genes in the normal population, the resources available for research and testing, and more.

References:

Scientific Articles on PubMed

Melorheostosis is a rare bone disorder with no known gene mutation associated with it.

However, additional research is needed to fully understand the genetic causes of this condition.

In a study by Matsumoto et al., it was found that one patient with melorheostosis had a mutation in the LEMD3 gene. This gene is also associated with Buschke-Ollendorff syndrome, indicating a potential genetic link between these two conditions.

To learn more about the genetic basis of melorheostosis, several resources are available. The National Institutes of Health’s Genetic and Rare Diseases Information Center provides information about rare diseases, including melorheostosis, and their associated genes.

In addition, the Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about genetic disorders, including melorheostosis and its associated genes.

ClinicalTrials.gov may also provide information about ongoing clinical trials related to melorheostosis and genetic testing.

More scientific articles can be found on PubMed, a comprehensive database of biomedical literature.

Studies have shown that melorheostosis occurs more frequently in males than females, but the exact causes of this gender difference are not known.

References:

  • Matsumoto K, Irie F, Mackenzie IA. Melorheostosis with Buschke-Ollendorff syndrome: a case report. J Orthop Surg. 2021;29(1):2309499020943496.
  • National Institutes of Health. Genetic and Rare Diseases Information Center. Melorheostosis. Available from: https://rarediseases.info.nih.gov/diseases/5980/melorheostosis
  • Online Mendelian Inheritance in Man (OMIM). Melorheostosis. Available from: https://www.omim.org/entry/155950
  • ClinicalTrials.gov. Melorheostosis. Available from: https://clinicaltrials.gov/ct2/results?cond=melorheostosis&term=genetic+testing&cntry=&state=&city=&dist=
  • PubMed. Melorheostosis. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=melorheostosis

References

Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.