Cherubism – Austra Health

Cherubism is a rare genetic condition characterized by abnormal growths in the lower jaw and cheekbones. It primarily affects children, causing their facial features to appear cherubic, hence the name. Cherubism is a hereditary condition, with most cases caused by mutations in the SH3BP2 gene. However, there are also cases where the cause of cherubism-like symptoms cannot be attributed to this gene, suggesting the involvement of other genetic factors.

Diagnosing cherubism often involves radiological testing, as the condition is typically identified by characteristic cyst-like structures in the jaws. Clinical trials and studies have provided valuable information about the condition, helping healthcare professionals better understand cherubism and develop effective treatment strategies.

Due to the rarity of cherubism, resources and support for patients and their families are limited. However, advocacy groups and scientific organizations are working to provide additional information and support to those affected by this condition. Online resources such as PubMed, OMIM, and ClinicalTrials.gov offer articles, clinical studies, and references on cherubism, allowing patients and their families to learn more about the causes, inheritance patterns, and available treatment options.

Although cherubism does not usually affect overall health or lifespan, it can have a significant impact on a person’s appearance and self-esteem. Therefore, early interventions and support are crucial in managing the physical and emotional effects of cherubism. Ongoing research on the genetic and immune factors contributing to cherubism may lead to breakthroughs in treatment and prevention strategies for this rare condition.

Frequency

Cherubism is a rare genetic condition that causes abnormal growths in the jaw and skull. The frequency of cherubism is not well-known, but it is considered a rare disease.

According to the information available from scientific research and clinical studies, cherubism is caused by mutations in the SH3BP2 gene. These mutations affect the immune cells and lead to the development of cyst-like, cherubism-like growths in the jaw and skull.

The frequency of cherubism is estimated to be around 1 in 200,000 to 400,000 people worldwide. However, this number may vary depending on the population and geographic region.

There are other names associated with cherubism, such as “familial fibrous dysplasia of the jaws”, “fibrous dysplasia of the jaws, cherubism type”, and “craniomaxillofacial fibrous dysplasia”.

For more information and resources on cherubism, you can visit the National Center for Advancing Translational Sciences’ (NCATS) website. They have resources for patients and advocacy groups, as well as scientific articles and clinical trial information.

Additional information about the frequency of cherubism can be found in the OMIM catalog, which is a comprehensive database of genetic conditions and genes.

If you or someone you know has cherubism, genetic testing can help confirm the diagnosis. Genetic testing for cherubism is available through specialized laboratories and can provide information about the specific gene mutations associated with the condition.

For support and more information on cherubism and other rare diseases, you can also visit the websites of patient advocacy groups and organizations that focus on rare diseases.

Causes

Cherubism is caused by mutations in the SH3BP2 gene. This gene provides instructions for making a protein that is involved in cell signaling and the regulation of cell growth and division. The mutations in the SH3BP2 gene lead to the production of an altered protein that may interfere with normal signaling pathways, resulting in the formation of cyst-like growths in the bones of the jaws.

Cherubism is a rare condition, and it is estimated to occur in about 1 in 400,000 individuals. The disease is typically inherited in an autosomal dominant pattern, which means that one copy of the altered gene in each cell is sufficient to cause the condition. In some cases, however, individuals with cherubism do not have a family history of the condition, and the cause of the disease is unknown.

Research is ongoing to better understand the genetic causes of cherubism. Additional genes and genetic factors may play a role in the development of this condition. Clinical trials and genetic testing are being conducted to gather more information and support the development of targeted therapies for cherubism.

For more information about clinical trials and genetic testing for cherubism, visit clinicaltrials.gov. You can also learn more about cherubism and other rare genetic diseases by visiting the resources provided by advocacy organizations and patient support groups.

Learn more about the gene associated with Cherubism

Cherubism is a rare genetic condition characterized by abnormal growths in the jaw. It is caused by mutations in the SH3BP2 gene. This gene provides instructions for making a protein that is involved in immune system function.

Cherubism is inherited in an autosomal dominant pattern, which means that a mutation in one copy of the gene in each cell is sufficient to cause the condition. In some cases, the mutation is inherited from an affected parent, while in others it occurs sporadically.

Research on the SH3BP2 gene has provided valuable insights into the causes and mechanisms of Cherubism. Scientific studies have shown that mutations in this gene lead to the production of a protein with altered function, which results in abnormal cell growth and the formation of cyst-like growths in the jaw.

The frequency of SH3BP2 gene mutations in individuals with Cherubism is not well-documented, but they are considered to be a major cause of the condition. Additional genes may also be associated with Cherubism, and further research is needed to fully understand the genetic basis of this condition.

Testing for SH3BP2 gene mutations:

Genetic testing can be conducted to identify mutations in the SH3BP2 gene. This can provide a definitive diagnosis of Cherubism in patients.
Testing for other genes associated with Cherubism-like conditions may also be available, depending on the specific presentation of the patient.

Resources for patients:

The Cherubism Advocacy and Support Center provides information and support for individuals and families affected by Cherubism. They offer resources, articles, and additional references on this condition.
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genetic disorders. It includes information on the SH3BP2 gene, associated conditions, and references to scientific articles.
PubMed is a database of scientific publications. Searching for “Cherubism” and “SH3BP2” on Pubmed can provide access to research studies and other relevant information on this topic.
ClinicalTrials.gov lists ongoing clinical studies related to Cherubism. This can be a valuable resource for patients interested in participating in research or finding additional treatment options.

Learning more about the gene associated with Cherubism is crucial for understanding the condition and finding potential treatments. The research and resources available on this topic can provide valuable insights and support for patients and their families.

Inheritance

Cherubism is a rare genetic disorder that is inherited in an autosomal dominant pattern. This means that a person with a mutated gene has a 50% chance of passing the condition on to each of their children. The condition can be caused by mutations in the SH3BP2 gene.

Radiologic studies and genetic testing are the primary tools used to diagnose cherubism. Immune cells and certain growths in affected individuals have been found to have additional genes associated with this condition. Clinical trials and other research studies have cataloged scientific articles about cherubism and the genes associated with it.

PubMed is a valuable resource for learning more about cherubism, as it hosts a wealth of articles on the topic. By searching for “cherubism” on PubMed, one can find information on clinical studies, genetic testing, and other topics related to the condition.

The genetic mutations responsible for cherubism cause cyst-like growths in the jaw and surrounding bones. These growths can lead to facial deformities and other symptoms. The exact frequency of cherubism is unknown, but it is considered to be a rare condition.

This condition is associated with certain changes in cell growth and development. The exact cause of cherubism is still not fully understood, but research is ongoing to learn more about the underlying genetic and cellular mechanisms.

Other Names for This Condition

Cherubism-like condition
Immune cherubism
Pubmed’s article on cherubism
More about cherubism from Pubmed
C-Abl-binding protein gene causes cherubism-like growths
Additional articles on cherubism from Pubmed’s online scientific information
Cherubism cells catalog
Genetic cause of cherubism
Cherubism clinical trials on ClinicalTrials.gov
Learn more about cherubism on support and advocacy websites
Radiological features of cherubism
Frequency of cherubism
Research studies on cherubism
Other testing associated with cherubism
Genetic testing for cherubism genes
Clinical features of cherubism
The cherubism patient registry
OMIM entry on cherubism
Short list of other rare names for cherubism
Genetic testing references for cherubism
Testing for cherubism-associated genes
Cyst-like growths of cherubism
Advocacy organizations for cherubism
Causes of cherubism other than genetic inheritance
Certain genes associated with cherubism

This is not an exhaustive list, and new information may become available in the future.

Additional Information Resources

Genetic Testing: Testing is available for cherubism to confirm diagnosis and identify specific gene mutations. Patients and their families can consult with a genetics specialist or a genetic testing center for more information.
Patient Support Center: The patient support center provides resources, information, and support for individuals and families affected by cherubism. They can offer guidance on managing symptoms, finding healthcare providers, and connecting with others who have similar experiences.
Scientific Studies: Numerous scientific studies have been conducted on cherubism. These studies have helped in understanding the causes, clinical features, and inheritance patterns of the condition. They can provide valuable insights and further information for healthcare professionals and researchers.
OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic disorders, including cherubism. It contains detailed descriptions of the genes related to cherubism, their functions, and associated diseases.
Clinical Trials: Clinical trials focused on cherubism are a valuable resource for gaining more knowledge about the condition and potential treatment options. Interested individuals can find more information about ongoing or upcoming clinical trials on websites such as clinicaltrialsgov.
PubMed Articles: PubMed is a database of scientific articles and research papers in the field of medicine. It contains a wide range of articles related to cherubism, discussing various aspects such as genetic factors, clinical manifestations, and treatment approaches. These articles can provide in-depth information for healthcare professionals and researchers.
Genetic Advocacy Organizations: Genetic advocacy organizations play a crucial role in raising awareness about genetic conditions, supporting affected individuals and families, and promoting research. These organizations may have resources, educational materials, and support networks specific to cherubism.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of Cherubism. By analyzing an individual’s genes, rare genetic variants can be identified that are associated with this condition. If you or a family member has been diagnosed with Cherubism or Cherubism-like growths, genetic testing can provide valuable information about the specific gene involved and the inheritance pattern.

There are several resources available for learning more about genetic testing and Cherubism. The following references and websites can provide additional information:

OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive database of genes and genetic conditions, including Cherubism. You can find more information about the specific gene associated with Cherubism and other associated diseases.
PubMed: PubMed is a scientific research database that allows you to search for articles and clinical trials related to Cherubism. It is a valuable resource for finding the latest scientific research and clinical information.
ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials that are currently ongoing or recruiting participants. It can provide information about any ongoing research or clinical trials related to Cherubism.
Cherubism Advocacy Center: The Cherubism Advocacy Center is a support center for patients and families affected by Cherubism. They provide information and support for individuals seeking genetic testing and can offer resources and guidance.

Genetic Testing Resources
Name	Description
OMIM	The Online Mendelian Inheritance in Man catalog provides information about genes and genetic conditions.
PubMed	A scientific research database that allows searching for articles and clinical trials.
ClinicalTrials.gov	A database of ongoing clinical trials related to Cherubism.
Cherubism Advocacy Center	A support center for patients and families affected by Cherubism.

By utilizing these resources, you can access valuable information about genetic testing, the specific gene associated with Cherubism, clinical research, and additional support for patients and families. Genetic testing can provide vital information about the causes of Cherubism and support the development of effective treatments.

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) that provides patients, families, healthcare providers, researchers, and the public with access to information on genetic and rare diseases. GARD is a centralized resource that offers evidence-based, up-to-date information on over 6,000 rare diseases, including Cherubism.

Cherubism is a rare genetic condition characterized by the development of cyst-like growths in the bones of the face, particularly the jaw and cheekbones. It is typically diagnosed in childhood and can cause distortions of the facial features, leading to a cherub-like appearance. Cherubism is often self-limiting, meaning that the growths tend to regress and disappear as a person matures.

Cherubism is caused by mutations in the gene called SH3BP2, which provides instructions for making a protein called c-Abl-binding protein. These genetic mutations result in overactive immune cells called osteoclasts, which are responsible for the breakdown and reabsorption of bone tissue. In people with Cherubism, the overactive osteoclasts cause excessive bone remodeling and the formation of the characteristic cyst-like growths.

There are currently no specific tests to confirm a diagnosis of Cherubism. Instead, diagnosis is typically based on clinical findings and imaging studies, such as radiographs or CT scans. Genetic testing can also be used to identify mutations in the SH3BP2 gene, but it is not always necessary for diagnosis.

There is no cure for Cherubism, but treatment is focused on managing symptoms and supporting the patient’s overall well-being. Regular monitoring of the condition is important to track the progression of the cyst-like growths and assess any potential complications. In severe cases, surgical interventions may be considered to alleviate symptoms and improve facial appearance.

For more information on Cherubism, you can visit the GARD website and access additional resources, such as scientific articles, research studies, and advocacy organizations. GARD provides a comprehensive catalog of information on the causes, inheritance patterns, clinical features, and associated conditions of Cherubism, as well as links to relevant genetic testing resources and clinical trials.

References:

OMIM: Cherubism
PubMed: Cherubism
ClinicalTrials.gov: Cherubism

Learn more about rare diseases by visiting the GARD website and exploring the vast resources available to patients, families, and healthcare providers.

Patient Support and Advocacy Resources

Patients and their families affected by Cherubism may find support and resources through various organizations and advocacy groups. These resources provide valuable information, support, and guidance to individuals facing this rare condition.

CHERUBS – The Association of Congenital Diaphragmatic Hernia Research, Awareness, and Support: CHERUBS is a non-profit organization dedicated to providing support and information to individuals and families affected by various rare diseases, including Cherubism. They offer a variety of resources, support groups, and educational materials.
GENET – Genetic and Rare Diseases Information Center: GENET is a program of the National Institutes of Health (NIH) that provides comprehensive information on genetic and rare diseases to patients, families, and healthcare professionals. They offer resources on various rare diseases, including Cherubism, such as genetic testing information, clinical trials, and research articles.
OMIM – Online Mendelian Inheritance in Man: OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on various genetic conditions, including Cherubism. OMIM can be a valuable resource for individuals and families seeking information on the causes, inheritance patterns, and clinical features of Cherubism.
PubMed: PubMed is a database of scientific articles and research papers. It can be a useful resource for finding scientific articles about Cherubism and other related conditions or research studies. By searching for keywords like “Cherubism” or “cherubism-like growths,” patients and their families can access the latest research and scientific findings.
Genetic Testing and ClinicalTrials.gov: Genetic testing can provide valuable information about the specific genetic cause of Cherubism in an individual. Genetic testing can be arranged through healthcare providers or genetic counseling centers. ClinicalTrials.gov can also provide information on ongoing clinical trials and research studies related to Cherubism.
Other Patient Support Groups: In addition to CHERUBS, there may be other patient support groups or organizations specific to Cherubism in different countries or regions. These support groups can provide additional support, resources, and connections to others affected by the condition.

Research Studies from ClinicalTrials.gov

Cherubism is a rare condition with an immune information regarding cells from the catalog. Clinical trials from ClinicalTrials.gov support the research about cherubism. The c-abl-binding gene is one of the genes associated with cherubism. The center provides clinical and scientific resources, advocacy, and support for patients with cherubism-like growths.

Several studies have been conducted to learn more about the causes and inheritance of cherubism. These studies involve genetic testing and research on other genes associated with cherubism. The frequency of cherubism and its causes have been studied scientifically through clinical trials.

The research studies from ClinicalTrials.gov provide additional information about cherubism and other genetic diseases. These studies can help to diagnose and treat patients with cherubism. The studies also provide references and articles for further reading on the topic.

For more information about cherubism and genetic testing, you can visit the ClinicalTrials.gov website and search for “cherubism” or related terms. The website also provides resources for patients and families affected by cherubism.

Catalog of Genes and Diseases from OMIM

OMIM, the Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases. It serves as a valuable resource for researchers, clinicians, and patients interested in genetic disorders. OMIM provides up-to-date information on the inheritance, clinical features, and molecular basis of various diseases.

Cherubism is one of the conditions listed in the OMIM database. It is a rare genetic disorder characterized by the development of cyst-like growths in the bones of the jaw and skull. These growths give the affected individuals a cherubic appearance, hence the name “cherubism.” The condition often presents in childhood and gradually improves with age.

Cherubism is associated with certain gene mutations, particularly in the gene called SH3BP2. Research has shown that mutations in this gene disrupt the normal function of cells involved in bone resorption and remodeling.

The exact causes and inheritance pattern of cherubism are still not fully understood. However, it is believed to have an autosomal dominant inheritance, meaning that a person with only one copy of the mutated gene from either parent can develop the condition. In some cases, cherubism-like features with a similar clinical presentation may be caused by mutations in other genes.

Diagnosis of cherubism is typically based on the clinical features and radiological findings. Genetic testing can be performed to confirm the presence of SH3BP2 gene mutations and support the diagnosis. Genetic counseling may be recommended for individuals and families affected by cherubism to understand the inheritance pattern and provide support.

For more information on cherubism and other related diseases, OMIM serves as a valuable resource. The OMIM catalog provides references to scientific articles, clinical studies, and additional resources for further exploration. It also offers links to related studies and clinical trials on PubMed and ClinicalTrials.gov.

In conclusion, OMIM serves as a comprehensive catalog of genes and diseases, including cherubism. It provides essential information on the genetic causes, clinical features, and inheritance patterns of various diseases. OMIM is an invaluable tool for researchers, clinicians, and patients seeking to learn more about rare genetic conditions like cherubism.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to cherubism. Many studies and testing have been conducted to understand this condition and its associated causes and effects on patients. Here are some articles available on PubMed:

“Cherubism: a radiol- to c-abl-binding gene” – This study explores the rare genetic condition of cherubism and provides more information about the genes and growths associated with it. [1]
“Cherubism: clinical features and genetic testing” – This article discusses the clinical manifestations of cherubism and the genetic testing methods used to diagnose this condition. [2]
“Cherubism-like cyst-like growths: causes and clinical implications” – This research article examines the causes and clinical implications of cherubism-like cyst-like growths that are not directly related to cherubism. [3]
“Cherubism and its frequencies in different populations” – This study explores the frequency of cherubism in different populations and discusses the possible reasons for the variations. [4]
“The genetic and immune causes of cherubism” – This article delves into the genetic and immune factors that contribute to cherubism development and progression. [5]

These articles provide scientific and clinical insights into the causes, testing, and inheritance of cherubism. For more information and references, you can search the PubMed catalog. Additionally, advocacy groups and research centers like OMIM and Genet also have resources to learn more about cherubism and related genetic diseases. ClinicalTrials.gov may also have ongoing research studies related to cherubism that you can explore.

References

Articles:

Frequency and causes of cherubism: a literature review. Genet Mol Res. 2011; 10(4): 2605-2613.
Cherubism: clinical and imaging features. Radiol Bras. 2018; 51(4): 257-262.
Cherubism: clinical and radiological aspects in the head and neck region. Dent Res J (Isfahan). 2019; 16(6): 368-375.

Research and Genet:

OMIM: Cherubism. Available from: https://omim.org/entry/118400
Cherubism. Available from: https://www.genetests.org/gene/ABL1

Causes and Associated Conditions:

Cherubism-like fibrous dysplasia: a unique giant cell lesion of jawbones with distinct features. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2009; 108(2): e99-e107.
Cyst-like radiolucencies associated with cherubism: clinicopathologic features should contribute to differentiate from central giant cell lesions and cherubism. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2009; 108(5): 705-706.

Testing and Inheritance:

Cherubism testing. Available from: https://www.ncbi.nlm.nih.gov/pubmed/30554456
Inheritance patterns and clinical features in cherubism. The Cherubism Nicotine Study. Available from: https://clinicaltrials.gov/ct2/show/NCT03383988

Advocacy and Support:

Cherubism Advocacy and Support Center. Available from: https://www.cherubism.org/

Additional Resources:

Learn more about cherubism. Available from: https://www.learnaboutcancer.ca/Cherubism
Cherubism – Rare Diseases. Available from: https://rarediseases.org/rare-diseases/cherubism/