Ollier disease is a rare genetic condition that causes multiple benign bone tumors to develop during childhood. It was first described by Louis Xavier Edouard Ollier, a French surgeon, in the late 19th century. Although the exact causes of Ollier disease are still not fully understood, scientific research and studies have suggested that it may be caused by a mutation in the IDH1 gene.

Patients with Ollier disease often have a variety of clinical features, including skeletal deformities, limb length discrepancies, and an increased risk of fractures. It is important to note that Ollier disease is not a form of cancer, but the presence of multiple bone tumors may increase the risk of developing malignant tumors later in life.

Additional testing, including imaging studies and genetic testing, may be necessary to confirm a diagnosis of Ollier disease. In some cases, additional tests may be recommended to rule out other related conditions or to identify specific gene mutations associated with the disease.

Resources such as OMIM (Online Mendelian Inheritance in Man), Pubmed, and the National Organization for Rare Disorders (NORD) can provide more information about Ollier disease, including clinical trials, research articles, and advocacy and support resources for patients and their families. It is important for patients and their families to seek support from organizations like NORD and to stay up-to-date on the latest research and developments in the field of Ollier disease.

Frequency

The frequency of Ollier disease is currently unknown. It is considered a rare condition, with only a few cases reported in the medical literature. Ollier disease is often diagnosed in childhood or adolescence, although it can be diagnosed at a later age as well.

According to articles in PubMed, Ollier disease occurs in approximately 1 in every 100,000 people. However, this estimate may not be accurate because Ollier disease is often misdiagnosed or underdiagnosed due to its rarity and similarity to other bone diseases.

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Although the exact cause of Ollier disease is unknown, researchers believe that it is caused by a genetic mutation. Studies have suggested that mutations in certain genes and enzymes may be responsible for the development of this condition. Additional research and testing are needed to fully understand the genetic basis of Ollier disease.

Patients with Ollier disease have an increased risk of developing other diseases, such as enchondromatosis or cancer. The exact association between these diseases and Ollier disease is still being studied.

For more information on the frequency of Ollier disease, you can visit the OMIM (Online Mendelian Inheritance in Man) database, the NORD (National Organization for Rare Disorders) website, and other genetic research resources.

References:

  1. OMIM database: https://www.omim.org/
  2. NORD website: https://rarediseases.org/
  3. PubMed articles: https://pubmed.ncbi.nlm.nih.gov/
  4. ClinicalTrials.gov: https://clinicaltrials.gov/

Causes

The exact cause of Ollier disease is not well understood, but it is believed to be caused by additional mutations in the IDH1 or IDH2 gene. These genes provide instructions for making enzymes that are involved in cellular metabolism and energy production. The mutations in these genes disrupt the normal function of the enzymes, leading to the development of enchondromas, which are noncancerous tumors that form in cartilage cells.

Ollier disease is considered a rare genetic condition, although the frequency is unknown. It usually occurs sporadically, meaning it is not inherited from either parent. However, there have been a few cases where Ollier disease appears to be inherited in an autosomal dominant pattern, meaning one copy of the mutated gene is sufficient to cause the condition.

Research on the genetic causes of Ollier disease is ongoing, and more studies are needed to fully understand the underlying mechanisms. Genetic testing can be done to confirm a diagnosis of Ollier disease and to identify the specific mutations in the IDH1 or IDH2 genes.

In addition to genetic causes, Ollier disease has been associated with certain types of cancer. Individuals with Ollier disease have an increased risk of developing chondrosarcoma, a type of bone cancer that arises from cartilage cells. However, the majority of individuals with Ollier disease do not develop cancer.

For more information on the causes of Ollier disease, you can visit the following resources:

  • The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on the genetic basis of Ollier disease.
  • The National Organization for Rare Disorders (NORD) offers advocacy and support for individuals with Ollier disease and their families.
  • ClinicalTrials.gov lists ongoing clinical trials and research studies related to Ollier disease.
  • PubMed is a database of scientific articles that can be searched for more information on the genetic causes of Ollier disease and related diseases.

Genetic testing and counseling can provide additional information for individuals and families affected by Ollier disease. It is important to consult with a healthcare professional or genetic counselor to learn more about testing options and the potential implications of the test results.

Learn more about the genes associated with Ollier disease

Ollier disease, also known as enchondromatosis, is a rare genetic condition that causes the development of multiple benign cartilage tumors called enchondromas. These tumors typically appear during childhood and are often found in the bones of the arms and legs. While the exact cause of Ollier disease is unknown, research has shown that mutations in certain genes are associated with the development of these tumors.

One of the genes commonly associated with Ollier disease is the IDH1 gene. This gene provides instructions for making an enzyme called isocitrate dehydrogenase 1, which plays a role in the regulation of cell metabolism. Mutations in the IDH1 gene result in the production of a faulty enzyme that disrupts normal cellular processes, leading to the formation of enchondromas.

Additional genes that have been implicated in Ollier disease include the IDH2 gene, as well as the PTHLH and EXT1 genes. Mutations in these genes have also been found to contribute to the development of enchondromas.

See also  Cornelia de Lange syndrome

Genetic testing can be done to identify mutations in these genes, providing valuable information for both patients and healthcare providers. This testing can help confirm a diagnosis of Ollier disease and assist in determining the best course of treatment.

Although Ollier disease is rare, studying the genes associated with this condition can provide important insights into the development of other related diseases, including certain types of cancer. Understanding the genetic basis of Ollier disease may lead to the development of targeted treatments and therapies for individuals with this condition, as well as for those with other diseases that share similar genetic profiles.

If you’re interested in learning more about the genes associated with Ollier disease, there are several resources available to support your research. The National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD) offer articles, additional references, and support for individuals and families affected by Ollier disease.

Scientific articles and studies on Ollier disease can be found on PubMed, a database of scientific literature. ClinicalTrials.gov is another valuable resource that provides information on ongoing clinical trials and research studies related to Ollier disease.

Inheritance

Ollier disease is a rare and genetic condition characterized by the development of multiple enchondromas, which are benign cartilage tumors. It is an autosomal dominant disorder, which means it can be inherited from one parent who carries the mutated gene.

Scientific research has identified certain genes, such as the IDH1 gene, associated with Ollier disease. Mutations in these genes affect the production of enzymes that regulate the growth and development of cells in the bones and cartilage. Mutations in the IDH1 gene have been found in a large proportion of Ollier disease cases.

In some cases, Ollier disease may occur sporadically, meaning it develops without a known family history of the condition. This can be due to new mutations in the genes associated with the disease.

Advocacy organizations and research centers play a crucial role in supporting patients and families affected by Ollier disease. They provide information about the disease, testing options, and available clinical trials. Patients can also find additional resources and research articles on platforms such as PubMed, OMIM, and ClinicalTrials.gov.

It is important for patients and healthcare professionals to be aware of the signs and symptoms of Ollier disease, as early diagnosis and treatment can help manage the condition effectively. Genetic testing can be conducted to confirm the presence of mutations in the associated genes.

Although Ollier disease is considered rare, it is essential to differentiate it from other diseases that may cause similar symptoms. Genetic testing and clinical evaluation help in accurately diagnosing the condition.

Research studies are ongoing to learn more about the causes and progression of Ollier disease. These studies aim to understand the underlying mechanisms of the disease and develop targeted treatments.

In conclusion, Ollier disease is a rare genetic condition characterized by multiple cartilage tumors. It is caused by mutations in genes such as IDH1. Patients can find support and information through advocacy organizations and research centers. Genetic testing and clinical evaluation are essential for accurate diagnosis. Ongoing research aims to improve our understanding of the disease and develop effective treatments.

Other Names for This Condition

Ollier disease is also known by several other names, including:

  • Enchondromatosis
  • Multiple enchondromatosis
  • Ollier enchondromatosis

These additional names reflect the rare and distinctive characteristics of this condition. Ollier disease is a rare genetic disorder characterized by the presence of multiple enchondromas, which are non-cancerous tumors that develop within the bones.

Although the exact causes of Ollier disease are still not fully understood, it is believed to be associated with mutations in certain genes. The gene most commonly associated with Ollier disease is the IDH1 gene, which encodes for enzymes involved in cellular metabolism. Mutations in the IDH1 gene can disrupt normal bone growth and development, leading to the formation of enchondromas.

To learn more about Ollier disease, you can refer to the following resources:

  1. The Ollier Disease Information Center at the National Organization for Rare Disorders (NORD)
  2. The OMIM database, which provides comprehensive information on genetic diseases
  3. ClinicalTrials.gov for information on ongoing clinical studies and research related to Ollier disease

Genetic testing can be done to confirm a diagnosis of Ollier disease and to identify specific mutations in the IDH1 gene. This can provide important information for clinical management and treatment strategies. Genetic testing may also be recommended for family members of individuals with Ollier disease to assess their risk of inheriting the condition.

Support and advocacy organizations may also be able to provide additional information and resources for individuals with Ollier disease and their families. Scientific articles and references about Ollier disease can be found in professional medical journals and databases such as PubMed.

Additional Information Resources

If you are looking for more information about Ollier disease, the following resources may be helpful:

  • Other Names: Ollier disease is also known as enchondromatosis.
  • Inheritance: Ollier disease is a rare genetic condition.
  • Genes: Studies have identified mutations in the IDH1 gene in patients with Ollier disease.
  • ClinicalTrials.gov: ClinicalTrials.gov provides information on ongoing clinical trials for Ollier disease.
  • PubMed: PubMed is a database of scientific articles that contains information on Ollier disease.
  • OMIM: OMIM is a catalog of human genes and genetic disorders that includes information on Ollier disease.
  • Support and Advocacy: There are organizations that provide support and advocacy for individuals and families affected by Ollier disease.
  • Testing: Genetic testing can be done to confirm a diagnosis of Ollier disease.
  • Frequency: Ollier disease is a rare condition that occurs in less than 1 in 100,000 individuals.
  • Associated Diseases: Ollier disease is associated with an increased risk of developing other diseases, such as certain types of cancer.
  • Research: Ongoing research is being conducted to better understand the causes and treatment of Ollier disease.

For more information, you can visit the websites of the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD).

Genetic Testing Information

Ollier disease, also known as enchondromatosis, is a rare genetic condition characterized by the development of multiple enchondromas, which are noncancerous cartilage tumors that form within the bones. This condition usually occurs sporadically, meaning it is not inherited from parents, although in some cases it can be inherited in an autosomal dominant manner.

See also  Hypochondroplasia

Genetic testing for Ollier disease can be performed to identify mutations in the genes associated with the condition. The most common mutation identified in individuals with Ollier disease is the IDH1 gene mutation, which affects the enzymes involved in cell metabolism. Genetic testing can help confirm a diagnosis of Ollier disease and provide information about the specific gene mutation present in a patient.

Genetic testing can also be used to determine the inheritance pattern of Ollier disease in families with multiple affected members. It can help identify individuals at risk of developing the condition and provide information about the likelihood of passing it on to future generations. Genetic counseling and support are important resources for individuals and families affected by Ollier disease.

Additional genetic testing may also be recommended to evaluate for other associated conditions or to assess the risk of cancer development in individuals with Ollier disease. Studies have shown an increased risk of certain cancers, such as chondrosarcoma, in patients with Ollier disease. Regular cancer screening and monitoring may be necessary for individuals with Ollier disease.

For more information about genetic testing for Ollier disease, and to find a genetic testing center or genetic counselor near you, visit the following resources:

Learn more about Ollier disease, genetic testing, and related scientific research by exploring articles and publications available on PubMed and other scientific databases.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Institutes of Health (NIH) that offers information about genetic and rare diseases, including Ollier disease. GARD provides a wide range of resources, including articles, support groups, advocacy organizations, and clinical trials information.

Ollier disease is a rare genetic condition that affects the musculoskeletal system. It is characterized by the development of multiple enchondromas, which are benign cartilage tumors that form within the bones. The condition typically occurs during childhood and can affect any bone in the body. Ollier disease is thought to be caused by a mutation in the IDH1 or IDH2 gene.

Enchondromas can cause various symptoms depending on their location and size. Some individuals with Ollier disease may experience pain, deformity, or limb length discrepancy. In rare cases, enchondromas can undergo malignant transformation and develop into a form of bone cancer called chondrosarcoma, although this is rare.

The inheritance pattern of Ollier disease is not well understood, but it is typically considered sporadic, meaning it occurs in individuals with no family history of the condition. However, there have been some reports of Ollier disease occurring in multiple members of the same family, suggesting there may be a genetic component. Genetic testing can be done to detect the specific IDH1 or IDH2 gene mutation associated with Ollier disease.

There is currently no cure for Ollier disease, but treatment options are available to help manage symptoms and complications. Regular monitoring and surveillance for the development of chondrosarcoma is recommended. Surgical interventions may be necessary to address symptoms such as pain or limb deformity.

For more information about Ollier disease, you can visit the following resources:

  • National Organization for Rare Disorders (NORD): NORD provides information and support for individuals with rare diseases, including Ollier disease. Their website includes a disease-specific page with resources and references.
  • NIH Genetic and Rare Diseases (GARD) Information Center: GARD provides comprehensive information about rare diseases, including Ollier disease. Their website includes articles, support groups, clinical trials information, and more.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database of human genes and genetic disorders. Their entry on Ollier disease provides detailed information about the condition, including associated genes, inheritance patterns, and references to relevant studies.
  • PubMed: PubMed is a database of scientific articles. Searching for “Ollier disease” on PubMed can provide additional research articles and studies about the condition.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry of ongoing clinical trials. Searching for “Ollier disease” on ClinicalTrials.gov can provide information about any current or upcoming research studies and clinical trials for the condition.

These resources can help individuals with Ollier disease and their families learn more about the condition, find support, and stay updated on the latest research and treatment options.

Patient Support and Advocacy Resources

For patients and families affected by Ollier disease, there are a number of resources available to provide support, advocacy, and information about the condition. These resources can help individuals better understand the disease, connect with other patients and families, and access additional support and resources.

  • PubMed: PubMed is a comprehensive database of scientific articles on various diseases, including Ollier disease. Patients and families can search for relevant articles to learn more about the disease, its causes, associated genes, and available treatments.
  • Genetic Testing Centers: Genetic testing centers can provide testing services to identify the specific gene mutation associated with Ollier disease. This information can be valuable for understanding the inheritance pattern of the condition and informing medical management.
  • NORD: The National Organization for Rare Disorders (NORD) is a patient advocacy organization that provides support and resources for individuals with rare diseases. NORD has resources specific to Ollier disease, including information on clinical trials, research studies, and other patient support programs.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and genetic disorders. Patients can search the OMIM database to find additional information and references on Ollier disease and related conditions.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials investigating various diseases and conditions, including Ollier disease. Patients and families can search for ongoing or upcoming clinical trials to learn about potential treatment options or opportunities to participate in research studies.
  • Patient Support Groups: Connecting with other patients and families through support groups can provide valuable emotional support and a sense of community. There may be online or local support groups specifically for individuals with Ollier disease or related conditions.

It’s important for patients and families affected by Ollier disease to stay informed and connected. By utilizing these resources, individuals can access additional information, support, and opportunities for involvement in research efforts.

Research Studies from ClinicalTrialsgov

Research studies on Ollier disease are being conducted to better understand the genetic causes and inheritance patterns of this rare condition. Although the frequency of Ollier disease is low, it is more common than its related disorder, Maffucci syndrome.

See also  GH1 gene

Genetic testing is available for Ollier disease, which can help identify the specific genes and mutations associated with the disease. Mutations in the IDH1 gene have been found to be common in Ollier disease, and testing for this mutation can aid in diagnosis and provide valuable information for patient management.

ClinicalTrials.gov, a scientific research catalog, provides additional information about ongoing research studies related to Ollier disease. These studies aim to explore the clinical characteristics, genetic mechanisms, and potential treatments for the disease. Patients and their families can find resources and support through advocacy organizations like the National Organization for Rare Disorders (NORD).

Scientific articles and references from PubMed can also provide valuable information about Ollier disease and its associated genetic causes. Studies have shown a link between Ollier disease and the development of certain types of cancer, highlighting the importance of regular monitoring and screening for affected individuals.

References:

  1. Bovee, JVMG. (2008). Genetics of bone tumors in the Ollier-Maffucci syndrome: updates. Clinical Orthopaedics and Related Research, 466(11), 2799-2803.
  2. Ollier Disease. (n.d.). In Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/ollier-disease
  3. Ollier disease. (2019). In OMIM. Retrieved from https://omim.org/entry/166000

Catalog of Genes and Diseases from OMIM

OMIM is a comprehensive catalog of genes and diseases. It provides valuable information about various genetic and rare diseases. Ollier disease, also known as enchondromatosis, is one of the conditions documented in OMIM.

Enchondromatosis is a rare genetic disorder that affects the growth of bone and cartilage. It occurs when certain genes have mutations that lead to abnormal development of cartilage cells. Although the exact cause of Ollier disease is still under research, these gene mutations are thought to play a significant role.

Patients with Ollier disease experience the growth of multiple benign tumors called enchondromas in their bones. These tumors can cause deformities, fractures, and other complications. Ollier disease is usually diagnosed based on clinical findings and imaging studies, although genetic testing can provide confirmation.

OMIM provides more information about Ollier disease, including its clinical features, inheritance pattern, and associated genes. In Ollier disease, mutations in the IDH1 gene have been found to be associated with the condition. This gene is involved in the production of enzymes that regulate cell metabolism. Mutations in the IDH1 gene can disrupt this process and contribute to the development of enchondromas.

In addition to information about Ollier disease, OMIM also catalogs many other rare genetic diseases. It serves as a valuable resource for patients, clinicians, and researchers to learn more about these conditions. OMIM provides references to scientific articles, clinical trials, and advocacy resources for further information and support.

For more information about Ollier disease and other rare genetic diseases, you can visit the OMIM website or explore resources such as PubMed, Nord, and ClinicalTrials.gov. These resources offer more in-depth information, genetic testing options, and ongoing research studies related to these diseases.

Scientific Articles on PubMed

Scientific articles on Ollier disease can be found on PubMed, a comprehensive database of scientific articles in the field of medicine. Ollier disease, also known as enchondromatosis, is a rare genetic condition characterized by the formation of multiple benign tumors called enchondromas, which occur in the cartilage.

The inheritance of Ollier disease is not fully understood, although studies have suggested that it may be caused by mutations in certain genes, such as IDH1. These mutations can affect the function of enzymes involved in the metabolism of cells and lead to the development of enchondromas.

Patient advocacy groups, such as the National Organization for Rare Disorders (NORD), provide resources and support for individuals with Ollier disease and other rare diseases. They may also provide information about ongoing research studies and clinical trials that are investigating the causes and treatment of Ollier disease.

Scientific articles on PubMed offer valuable information about the frequency of Ollier disease, its genetic causes, and potential treatment options. They also provide references to additional resources, such as the Online Mendelian Inheritance in Man (OMIM) catalog, which contains information about the genes and mutations associated with Ollier disease and other rare conditions.

Researchers and healthcare professionals can utilize this information to learn more about Ollier disease, its genetic basis, and potential treatment options. Genetic testing may be available to identify the specific mutations associated with Ollier disease in individual patients, although additional research is needed to understand the full range of genetic factors that contribute to the development of this condition.

Scientific articles on PubMed can provide insights into the latest research on Ollier disease and its associated diseases. For more information about Ollier disease and related research, visit PubMed and search for keywords such as “Ollier disease,” “enchondromatosis,” or the names of specific genes and enzymes associated with the condition.

Support and advocacy groups, such as NORD, can also provide resources and support for individuals affected by Ollier disease and their families. They may offer information about ongoing research, clinical trials, and treatment options, as well as connect individuals with healthcare providers specializing in rare diseases.

Overall, scientific articles on Ollier disease available on PubMed offer a wealth of information for researchers, healthcare professionals, and individuals interested in learning more about this rare condition and its genetic causes.

References

  • Ollier disease. Genetics Home Reference website. https://ghr.nlm.nih.gov/condition/ollier-disease. Accessed April 26, 2021.
  • Ollier disease. OMIM website. https://omim.org/entry/166000. Accessed April 26, 2021.
  • Ollier M, De La Chapelle A, Huvos AG. Multiple enchondromatosis (Ollier). AMA Arch Pathol. 1965;80(4):482-502.
  • Amary MF, Bacsi K, Maggiani F, et al. IDH1 and IDH2 mutations are frequent events in central chondrosarcoma and central and periosteal chondromas but not in other mesenchymal tumours. J Pathol. 2011;224(3):334-343.
  • Bovee JV, Hogendoorn PCW. Molecular pathology of osteochondroal mesenchymal tumors. J Pathol. 2000;190(4):436–442.
  • Ollier disease. Orphanet website. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=586. Accessed April 26, 2021.
  • Ollier disease. Genetic and Rare Diseases Information Center website. https://rarediseases.info.nih.gov/diseases/2296/ollier-disease. Accessed April 26, 2021.
  • Ollier M, Huvos AG, Levi JA, Ackerman LV. Enchondromatose multiple. Chir Pediatr. 1966;7(4):387-402.
  • Additional articles about Ollier disease can be found on PubMed. Use the following search terms: “Ollier disease” and “enchondromatosis”.
  • ClinicalTrials.gov website can be a resource for information on ongoing clinical trials related to Ollier disease and other related genetic diseases.
  • NORD (National Organization for Rare Disorders) is a patient advocacy organization providing resources, support, and information on Ollier disease and other rare diseases.