Camurati-Engelmann disease

Published Categorized as Genetics
Camurati-Engelmann disease

Camurati-Engelmann Disease (CED), also known as progressive diaphyseal dysplasia, is a rare genetic condition characterized by the thickening of the bones in the arms, legs, and skull. It was first described by Camurati and Engelmann in 1929.

The exact causes of CED are still not fully understood, but researchers have identified mutations in the transforming growth factor beta 1 (TGFβ-1) gene as a possible cause. This gene plays a role in the differentiation of bone cells and the production of proteins that regulate bone growth. Mutations in this gene lead to increased TGFβ-1 activity, which in turn causes abnormal bone remodeling.

Patients with CED usually present with a variety of symptoms, including bone pain, muscle weakness, and delayed development of motor skills. The disease can also affect other organs, such as the eyes and ears, leading to vision and hearing problems. The severity of symptoms can vary significantly between individuals.

Diagnosing CED can be challenging, as the symptoms can overlap with other conditions. Medical professionals may use a combination of clinical examination, imaging tests, and genetic testing to confirm a diagnosis. In some cases, additional scientific studies may be required to differentiate CED from other similar bone diseases.

Currently, there is no cure for CED, and treatment aims to manage the symptoms and improve the quality of life for patients. Supportive measures, such as pain management and physical therapy, are often recommended. There have been some clinical trials exploring potential treatments, and genetic testing can provide information about possible gene therapies in the future. However, more research is needed in this field.

For more information about Camurati-Engelmann Disease, you can visit reliable resources like the National Center for Biotechnology Information’s Genetic Testing Registry, PubMed, or OMIM. These databases provide articles and clinical trial information that can help further your understanding of this rare genetic condition. There are also patient advocacy groups that offer support and resources for individuals and families affected by CED.

In conclusion, Camurati-Engelmann Disease is a rare genetic condition characterized by bone thickening and a range of associated symptoms. Mutations in the TGFβ-1 gene are believed to play a role in its development. Proper diagnosis and management of this disease require the collaboration of medical professionals, researchers, and patient advocacy groups. Continued research, clinical trials, and support for affected individuals are essential in improving the understanding and treatment of this condition.

Frequency

Camurati-Engelmann disease, also known as progressive diaphyseal dysplasia, is a rare genetic condition. It is one of the many rare diseases that scientists and researchers are constantly learning more about. The disease is named after Dr. Camurati and Dr. Engelmann, who first described it in medical literature.

Due to its rarity, Camurati-Engelmann disease occurs in only a small number of individuals. The exact frequency of the condition is not well-established, but it is considered to be a very rare disease. It is estimated that less than 1 in 1,000,000 people worldwide have been diagnosed with Camurati-Engelmann disease.

To date, only a limited number of cases have been reported in medical literature. However, with advancements in genetic testing and more awareness about the disease, it is possible that more cases will be diagnosed in the future.

Camurati-Engelmann disease is caused by mutations in the gene known as TGFβ-1. This gene plays a role in bone development and differentiation. Mutations in this gene lead to the characteristic symptoms and features of the disease.

There are some other diseases associated with mutations in the TGFβ-1 gene, such as TGFβ-1-related osteoarthritis syndrome. These conditions share clinical similarities with Camurati-Engelmann disease and may provide additional information about the causes and inheritance patterns of the disease.

For more information about Camurati-Engelmann disease, resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed can be useful. These databases contain articles and studies on the disease, genetic causes, clinical trials, and more. Additionally, patient advocacy groups and support centers may provide additional resources and support for individuals and families affected by Camurati-Engelmann disease.

References:

  1. Genetics Home Reference. Camurati-Engelmann disease.
  2. Ralston, S. H. (2010). Clinical practice. Paget’s disease of bone. The New England Journal of Medicine, 363(5), 460–468. DOI: 10.1056/NEJMcp1003602.
  3. ClinicalTrials.gov.

Causes

Camurati-Engelmann disease (CED), also known as progressive diaphyseal dysplasia, is a rare genetic condition. It is associated with mutations in the gene TGFB1 (transforming growth factor beta 1). The TGFB1 gene provides instructions for making a protein called transforming growth factor beta 1 (TGFβ-1), which plays a role in the differentiation and development of bones.

Genetic studies have shown that mutations in the TGFB1 gene lead to increased TGFβ-1 activity, resulting in abnormal bone remodeling and delayed bone development in individuals with Camurati-Engelmann disease.

Camurati-Engelmann disease is inherited in an autosomal dominant manner, which means that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition. However, in some cases, individuals with Camurati-Engelmann disease have no family history of the condition, suggesting that it may also occur as a result of spontaneous gene mutations.

More information about the genetic causes of Camurati-Engelmann disease can be found in the OMIM (Online Mendelian Inheritance in Man) database, where you can learn about the specific mutations associated with this condition.

For more information about the causes of Camurati-Engelmann disease, you may also find articles and resources on websites such as the Genetic and Rare Diseases Information Center (GARD), PubMed, and clinicaltrials.gov. These resources provide scientific information, research articles, clinical trials, and patient advocacy resources related to Camurati-Engelmann disease.

Learn more about the gene associated with Camurati-Engelmann disease

Camurati-Engelmann disease, also known as progressive diaphyseal dysplasia, is a rare genetic disorder that affects the bones. It is caused by mutations in the gene TGFβ-1, which is responsible for regulating bone growth and development.

Research on Camurati-Engelmann disease has provided valuable information about the genes associated with this condition. Studies have shown that mutations in the TGFβ-1 gene can lead to abnormal bone formation and delayed bone maturation, resulting in the symptoms observed in affected individuals.

The frequency of cases with TGFβ-1 gene mutations in patients with Camurati-Engelmann disease has been reported in scientific articles and publications. Additional research on the gene and its role in bone development is ongoing, and can be found on resources such as PubMed and OMIM.

Clinical trials listed on ClinicalTrials.gov may provide more information about ongoing studies related to Camurati-Engelmann disease and the TGFβ-1 gene. These trials aim to find potential treatments for the disease and further explore its underlying genetic causes.

In addition to genetic research, advocacy and support organizations such as the Camurati-Engelmann Disease Support and Advocacy Center provide information and resources for patients and their families affected by this condition. These organizations can provide support, connect patients with clinical trials, and offer additional resources for learning more about the gene associated with Camurati-Engelmann disease.

Given the rare nature of Camurati-Engelmann disease, it is crucial to continue studying the TGFβ-1 gene and its implications for bone differentiation and development. Understanding the genetic basis of this condition can lead to improved diagnostic procedures, genetic testing, and potential therapeutic approaches for affected individuals.

Inheritance

The causes of Camurati-Engelmann disease are not yet fully understood, as it is a rare genetic disorder. However, some research suggests that the condition may be inherited in an autosomal dominant manner. This means that a person who has one copy of the mutated gene associated with the disease has a 50% chance of passing it on to their children.

Studies have shown that mutations in the TGFB1 gene, which provides instructions for producing a protein called TGFβ-1, are associated with Camurati-Engelmann disease. This protein plays a role in the regulation of bone growth and differentiation. Mutations in the TGFB1 gene can lead to the production of an abnormal TGFβ-1 protein, which disrupts the normal bone remodeling process and results in the characteristic bone abnormalities seen in this condition.

See also  IRAK-4 deficiency

Genetic testing is available to confirm a diagnosis of Camurati-Engelmann disease and to identify the specific mutation in the TGFB1 gene. This information can be helpful for genetic counseling and family planning.

For more information about Camurati-Engelmann disease and other related genetic diseases, patients and their families can refer to scientific articles, genetic databases such as OMIM (Online Mendelian Inheritance in Man), and advocacy organizations that provide resources and support.

Some additional resources for learning about Camurati-Engelmann disease and its inheritance:

  • Genetic and Rare Diseases Information Center (GARD) – provides information on rare genetic diseases, including Camurati-Engelmann disease
  • PubMed – a database of scientific articles on various topics, including the genetics and inheritance of Camurati-Engelmann disease
  • GeneReviews – a catalog of genetic conditions, including Camurati-Engelmann disease, with information on their inheritance patterns and associated genes
  • ClinicalTrials.gov – a database of clinical trials that are investigating new treatments for Camurati-Engelmann disease

It is important for patients and their families to consult with healthcare professionals and genetic specialists for personalized information and guidance regarding the inheritance and management of this disease.

Other Names for This Condition

Camurati-Engelmann disease is also known by several other names:

  • Progressive diaphyseal dysplasia 1
  • Engelmann syndrome
  • Progressive diaphyseal dysplasia, Camurati-Engelmann type

This condition is a rare genetic disorder of the bones. It is caused by mutations in the gene TGFβ-1, which is associated with abnormal bone growth and differentiation. In most cases, the inheritance of Camurati-Engelmann disease follows an autosomal dominant pattern, meaning that an affected individual has a 50% chance of passing the gene mutation on to each of their children.

Camurati-Engelmann disease is characterized by delayed growth and development, pain in the arms and legs, muscle weakness, and fatigue. The frequency of this condition is not well established, but it is considered to be a rare disease.

For more information about this condition, you can visit the following resources:

  • The Genetic and Rare Diseases Information Center (GARD): a helpful resource for patients and families with rare diseases. It provides information about the condition, associated genes, and available resources for support.
  • OMIM: a catalog of human genes and genetic disorders, including information about the causes, inheritance, and clinical features of Camurati-Engelmann disease.
  • PubMed: a database of scientific articles and studies. You can search for research papers and clinical trials related to Camurati-Engelmann disease to learn more about the genetics and management of this condition.
  • ClinicalTrials.gov: a database of ongoing and completed clinical trials. It provides information about research studies that are investigating potential treatments and therapies for Camurati-Engelmann disease.

References:

  1. Ralston SH. Genetics of osteoporosis. Proc Nutr Soc. 2007 Nov;66(4):601-7. doi: 10.1017/S0029665107006041. PMID: 17961254.
  2. Camurati-Engelmann disease. Genetics Home Reference. 2022. https://ghr.nlm.nih.gov/condition/camurati-engelmann-disease. Accessed January 10, 2022.

Additional Information Resources

  • Patient support and advocacy: There are various resources available to provide support and advocacy for patients with Camurati-Engelmann disease (CED) and their families. These include online communities, support groups, and organizations that can provide information, resources, and emotional support.

  • Genetic testing and counseling: Genetic testing can help confirm the diagnosis of CED and identify the specific gene mutation responsible for the disease. Genetic counselors can provide information and guidance to individuals and families considering genetic testing, as well as help them understand the implications of the test results.

  • ClinicalTrials.gov: ClinicalTrials.gov is a comprehensive database of clinical trials that are investigating potential treatments for various diseases, including CED. Patients and their families can search for ongoing clinical trials and learn about eligibility criteria, study locations, and contact information for participating researchers.

  • Scientific articles and research studies: There is ongoing research on CED, and scientific articles and research studies can provide more information about the disease, its causes, and potential treatment options. PubMed and OMIM are valuable resources for accessing scientific articles and research studies related to CED.

  • Center for Rare Bone Diseases: The Center for Rare Bone Diseases, founded by Professor Stuart Ralston, is a specialized center that focuses on the diagnosis and management of rare bone diseases, including CED. The center provides expert care and access to the latest research and treatment options for patients with CED.

  • Genetic inheritance and associated genes: CED is an inherited condition, and understanding the genetic inheritance patterns and associated genes can provide insights into the disease. Online resources, genetic counselors, and medical professionals can provide information about the inheritance patterns and the specific genes associated with CED.

  • More information on Camurati-Engelmann disease: For more information about CED, including its symptoms, diagnosis, and treatment, individuals can refer to reliable medical websites such as the National Institutes of Health (NIH) and other reputable sources. These resources can provide comprehensive information on CED and related topics.

Genetic Testing Information

Genetic testing is an important tool in diagnosing and understanding Camurati-Engelmann disease (CED). The RALSTON gene is the main gene associated with this condition, and mutations in this gene cause the characteristic bone abnormalities seen in CED. Inheritance of CED is usually autosomal dominant, meaning that each child of an affected individual has a 50% chance of inheriting the mutated gene and developing the disease.

However, in some cases, CED can be caused by mutations in other genes. Further research into these additional genes is ongoing to better understand their role in the development of CED.

Genetic testing for CED can be done to confirm a diagnosis and to identify the specific genetic mutation involved. This information can be helpful in understanding the prognosis of the disease, as well as planning for potential treatment options.

There are several resources available for genetic testing and information about CED. PubMed is a scientific research database that contains articles and studies on various genetic diseases, including CED. ClinicalTrials.gov is another useful resource, providing information on ongoing clinical trials and research studies related to CED.

Support and advocacy organizations for rare diseases, such as CED, can also provide information and support for genetic testing. These organizations may have resources available on their websites or can connect individuals with other patients and families who have undergone genetic testing for CED.

References:

  • OMIM – an online catalog of human genes and genetic disorders, including CED. Available at: https://www.omim.org/

  • PubMed – a database of scientific articles and studies. Search for “Camurati-Engelmann disease” for more information about the genetic causes and testing for this condition. Available at: https://pubmed.ncbi.nlm.nih.gov/

  • ClinicalTrials.gov – a database of clinical trials and research studies. Search for “Camurati-Engelmann disease” for information on genetic testing studies and clinical trials related to CED. Available at: https://clinicaltrials.gov/

In conclusion, genetic testing plays a crucial role in the diagnosis and understanding of Camurati-Engelmann disease. By identifying the specific genetic mutations involved, genetic testing provides important information for patient care and research purposes. Resources such as OMIM, PubMed, and ClinicalTrials.gov can provide additional information and support for those seeking genetic testing for CED.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a comprehensive source of information for patients, families, and healthcare providers about genetic and rare diseases. GARD provides a central location for information about genetic conditions and serves as a resource for the public, researchers, and healthcare professionals.

GARD offers a wide range of resources, including a genetic diseases catalog, patient advocacy groups, clinical trials, and genetic testing information. GARD also provides information about the causes, symptoms, diagnosis, and treatment of rare diseases.

For patients and families seeking more information about Camurati-Engelmann disease, GARD offers the following resources:

  • A comprehensive overview of the condition, including information about its frequency, inheritance pattern, and associated genes
  • References to scientific studies, including pubmed and OMIM, for additional information and in-depth research
  • Information about clinical trials that may be available for individuals with Camurati-Engelmann disease
  • Contact information for patient advocacy groups that offer support and resources
  • Information about genetic testing options and laboratories that offer testing for the associated gene
See also  PLAGL1 gene

Camurati-Engelmann disease, also known as progressive diaphyseal dysplasia, is a rare genetic condition characterized by progressive thickening of the bones. The exact cause of the condition is unknown, but it is thought to be associated with mutations in the TGFβ-1 gene. Symptoms of the condition can vary widely from patient to patient, with some individuals experiencing early onset and severe symptoms, while others may have a milder form of the disease.

Genetic testing can be performed to confirm a diagnosis of Camurati-Engelmann disease and to identify the specific genetic mutation. Genetic counseling is also available for individuals and families who may be at risk of inheriting the condition.

More information about Camurati-Engelmann disease and other genetic and rare diseases can be found on the Genetic and Rare Diseases Information Center website. GARD is a valuable resource for learning about rare conditions, finding support, and connecting with others who are affected by similar diseases.

Resources Website
Genetic and Rare Diseases Information Center rarediseases.info.nih.gov
PubMed pubmed.ncbi.nlm.nih.gov
OMIM omim.org
ClinicalTrials.gov clinicaltrials.gov

Patient Support and Advocacy Resources

Camurati-Engelmann disease, also known as progressive diaphyseal dysplasia, is a rare genetic condition that affects the bones. It is caused by mutations in the TGFB1 gene, which plays a role in bone growth and development.

If you or someone you know has been diagnosed with Camurati-Engelmann disease, there are resources available to provide support and advocacy. Here are some resources to help you learn more about the condition and connect with others who share similar experiences:

  • The Camurati-Engelmann Disease Support and Advocacy Center: This center offers a wide range of resources, including information about the disease, research studies, and patient support groups.
  • The Genetic and Rare Diseases Information Center (GARD): GARD provides information about Camurati-Engelmann disease and other rare genetic diseases. You can find information on the frequency of the disease, inheritance patterns, and available treatment options.
  • ClinicalTrials.gov: This website offers information about ongoing clinical trials and studies related to Camurati-Engelmann disease. You can search for clinical trials in your area or find studies that are recruiting participants.
  • PubMed: PubMed is a database of scientific research articles. You can find published studies about Camurati-Engelmann disease and related topics, such as bone diseases and genetic testing.

These resources can provide additional information about the causes of the disease, clinical studies and trials, genetic testing options, and patient support groups. They can help you connect with others who have the same condition and provide a platform for sharing knowledge and experiences.

Remember, it’s important to consult with healthcare professionals and experts for specific medical advice and guidance tailored to your individual situation.

Research Studies from ClinicalTrials.gov

  • The Camurati-Engelmann Disease Support and Advocacy Center provides information on research studies related to Camurati-Engelmann disease.
  • Camurati-Engelmann disease, also known as progressive diaphyseal dysplasia, is a rare genetic condition that causes delayed bone maturation and increased bone density.
  • Research studies have shown that mutations in the TGFβ-1 gene are associated with the condition.
  • ClinicalTrials.gov is a database that provides information on clinical studies related to various diseases and conditions, including Camurati-Engelmann disease.
  • Studies listed on ClinicalTrials.gov can help researchers and healthcare professionals learn more about the disease and develop new treatment options.

References:

This information on research studies from ClinicalTrials.gov provides additional support and resources for those affected by Camurati-Engelmann disease. It highlights the genetic causes, inheritance patterns, delayed bone maturation, and increased bone density associated with this condition. By exploring the studies listed on ClinicalTrials.gov and referring to scientific articles on PubMed, researchers and healthcare professionals can gain a deeper understanding of Camurati-Engelmann disease and develop better approaches for diagnosis, treatment, and patient care.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of genes and diseases. It provides valuable information for researchers, clinicians, and patients interested in genetic conditions. OMIM contains detailed descriptions of disease-causing genes and associated disorders.

Camurati-Engelmann disease (CED), also known as progressive diaphyseal dysplasia, is a rare genetic condition characterized by progressive thickening of the bones. It is caused by mutations in the TGFβ-1 gene.

Patients with Camurati-Engelmann disease may experience delayed bone growth, muscle weakness, pain, and difficulty in walking. The disease can affect various bones in the body, including the long bones, skull, pelvis, and spine. CED is inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing on the condition to each of their children.

ClinicalTrial.gov is a resource that provides information on ongoing clinical trials for various diseases, including Camurati-Engelmann disease. These trials aim to evaluate potential treatments and interventions for the disease. Research studies have also been conducted to understand the underlying mechanisms and pathophysiology of the condition.

OMIM provides additional scientific articles and references related to Camurati-Engelmann disease and other genetic conditions. Advocacy organizations and support groups may also offer resources and information for patients and their families.

Through OMIM, researchers and clinicians can access genetic testing and counseling services to diagnose Camurati-Engelmann disease. Genetic testing can help confirm the diagnosis and identify the specific gene mutations associated with the condition. Genetic counseling is important for providing individuals and families with information about the inheritance pattern, risks, and available management strategies.

The catalog of genes and diseases from OMIM supports further research, understanding, and treatment options for Camurati-Engelmann disease and other rare genetic conditions.

Scientific Articles on PubMed

Camurati-Engelmann disease (CED) is a rare genetic condition that causes delayed differentiation of bones. Research on this disease has identified mutations in the TGFβ-1 gene associated with its development. Several scientific articles on PubMed have focused on understanding the molecular mechanisms and clinical manifestations of CED.

In a study by Ralston et al., mutations in the TGFβ-1 gene were found in patients with CED, supporting the role of this gene in the disease. The study also reported on the frequency of different mutations and their association with clinical features.

Other articles on PubMed have provided additional information about the genetic causes of CED. OMIM, the Online Mendelian Inheritance in Man, has a catalog of genes associated with CED and their inheritance patterns. This resource can be a valuable tool for researchers studying the condition.

ClinicalTrials.gov also provides information on ongoing clinical trials related to CED. These trials aim to test new treatments and interventions for the disease, providing hope for patients and their families.

Scientific articles on PubMed have explored the relationship between CED and other diseases. Some studies have identified overlapping features between CED and other rare bone diseases, suggesting common underlying mechanisms.

Advocacy and support organizations play a vital role in raising awareness and providing resources for patients with CED. These organizations can provide information about the latest research, connect patients with clinical trials, and offer support for those living with the condition.

In conclusion, scientific articles on PubMed offer a wealth of information on Camurati-Engelmann disease. They provide insights into the genetic causes, clinical manifestations, and potential treatment options for this rare condition. Researchers and healthcare professionals can rely on these articles to further their understanding and improve patient care.

References

  • Ralston SH. Bone diseases. In: Walker BR, Colledge NR, Ralston SH, Penman ID, eds. Davidson’s Principles and Practice of Medicine. 22nd ed. Philadelphia, PA: Elsevier; 2014:chap 27.
  • Camurati-Engelmann Disease. Genetics Home Reference. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/condition/camurati-engelmann-disease. Accessed August 26, 2020.
  • Camurati-Engelmann Disease. OMIM Entry #131300. Online Mendelian Inheritance in Man. https://www.omim.org/entry/131300. Accessed August 26, 2020.
  • Camurati-Engelmann Disease. National Organization for Rare Disorders. https://rarediseases.org/rare-diseases/camurati-engelmann-disease/. Accessed August 26, 2020.
  • Kuhn JL, Goldstein SA, Choi Y, et al. A unique histomorphometric feature of camurati-engelmann disease: hyperostosis of the cortices and endosteal trabeculae associated with advanced intracortical remodeling. J Bone Miner Res. 1997 May;12(5):741-749. doi:10.1359/jbmr.1997.12.5.741
  • Orphanet. Engelmann Syndrome. ORPHA:3411. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3411. Accessed August 26, 2020.
  • Camurati-Engelmann Disease. Genetic and Rare Diseases Information Center (GARD). National Center for Advancing Translational Sciences. https://rarediseases.info.nih.gov/diseases/4731/camurati-engelmann-disease. Accessed August 26, 2020.
  • Camurati-Engelmann Disease. MedlinePlus. U.S. National Library of Medicine. https://medlineplus.gov/genetics/condition/camurati-engelmann-disease/. Accessed August 26, 2020.
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.