Osteopetrosis is a rare condition that affects the bones and can cause various abnormalities. It is also known by different names, such as marble bone disease and Albers-Schönberg disease. This genetic disorder is characterized by abnormal bone remodeling, leading to bones that are abnormally dense and prone to fractures.

The condition can cause a range of symptoms, including anemia, recurrent infections, and intellectual disabilities. It can be diagnosed through genetic testing, and there are different types of osteopetrosis that have been distinguished based on their genetic causes. The frequency of the condition is estimated to be around 1 in 20,000 to 1 in 250,000 live births.

There are various resources available for more information on osteopetrosis. Scientific articles can be found on PubMed and OMIM, which provide additional clinical and genetic information. ClinicalTrials.gov can provide information about ongoing research and clinical trials related to osteopetrosis. An advocacy organization called Osteopetrosis and Related Diseases Support Center offers support and resources for patients and their families.

Frequency

Osteopetrosis is a rare genetic condition with various forms of inheritance. According to scientific studies and articles available on PubMed, the frequency of osteopetrosis is estimated to be approximately 1 in 100,000 to 500,000 individuals worldwide. This suggests that osteopetrosis is a rare condition.

Osteopetrosis can be inherited in an autosomal recessive, autosomal dominant, or X-linked manner. Also, there are some cases with no identified inheritance pattern. Mutations in several genes have been identified as causing osteopetrosis, including the CLCN7, TCIRG1, and OSTM1 genes.

Different forms of osteopetrosis have varying frequencies. For example, malignant infantile osteopetrosis (MIOP), which is the most severe form, accounts for about 70 percent of all cases of autosomal recessive osteopetrosis. Autosomal dominant osteopetrosis and X-linked osteopetrosis are less common.

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In a study conducted by Villa et al., the frequency of osteopetrosis-related genotypes and clinical features was assessed in a cohort of patients from the Osteopetrosis Referral Center in Italy. The study identified different gene abnormalities associated with osteopetrosis, such as mutations in the CLCN7 and TCIRG1 genes.

Additional studies and clinical trials are ongoing to understand the genetic causes and associated diseases of osteopetrosis. Genetic testing can be performed to confirm a diagnosis of osteopetrosis and to identify the specific gene mutations involved.

In terms of clinical features, osteopetrosis is characterized by the abnormal thickening of bones, leading to bone abnormalities and increased fracture risk. Other symptoms may include anemia, recurrent infections, and impaired immune function.

Understanding the frequency and genetic causes of osteopetrosis is important for providing appropriate medical care and support for affected individuals. Various resources, such as research centers, advocacy organizations, and scientific publications, are available to learn more about this rare condition and provide support for patients and their families.

Causes

Osteopetrosis is a genetic disorder that can be caused by mutations in different genes. There are several forms of osteopetrosis, each associated with mutations in specific genes.

One of the most common forms is known as autosomal recessive osteopetrosis, which is caused by mutations in the TCIRG1 gene. This gene provides instructions for making a protein that is essential for the normal function of osteoclasts, the cells responsible for bone remodeling. Mutations in the TCIRG1 gene lead to abnormally functioning osteoclasts, resulting in the excessive formation and hardening of bone.

Another form of osteopetrosis is caused by mutations in the CLCN7 gene. This gene provides instructions for making a protein that is also involved in bone remodeling. Mutations in the CLCN7 gene can affect the function of osteoclasts, leading to abnormal bone growth and hardening.

In addition to TCIRG1 and CLCN7, other genes have also been found to be associated with osteopetrosis, including OSTM1, CA2, SNX10, PLEKHM1, and TNFSF11. Mutations in these genes can disrupt the normal function of osteoclasts and contribute to the development of osteopetrosis.

The inheritance pattern of osteopetrosis varies depending on the specific genetic mutation. Some forms of the condition are inherited in an autosomal recessive pattern, while others are inherited in an autosomal dominant pattern.

There are also rare cases of osteopetrosis that are caused by spontaneous mutations, meaning they occur for no known reason and are not inherited from parents.

More research is needed to fully understand the genetic and molecular mechanisms underlying osteopetrosis. Studies are ongoing to identify additional genes involved in the condition and to learn more about the function and regulation of osteoclasts.

Learn more about the genes associated with Osteopetrosis

Osteopetrosis is a rare condition characterized by abnormally dense and fragile bones. It is caused by mutations in various genes that affect the function and remodeling of bone tissue. Research has identified several genes that are associated with this condition, providing valuable insights into its causes and inheritance patterns.

One of the most common genes associated with osteopetrosis is known as TCIRG1. Mutations in this gene account for approximately 50 percent of all cases in which a genetic cause is identified. This gene provides instructions for making a protein that plays a critical role in the formation and function of osteoclasts, the cells responsible for breaking down and remodeling bone tissue.

Another gene associated with osteopetrosis is CLCN7. Mutations in this gene are responsible for about 10 percent of cases. The CLCN7 gene provides instructions for making a protein that is involved in the transportation of chloride ions within cells. Dysfunction of this protein leads to impaired bone resorption and the characteristic abnormalities seen in osteopetrosis.

Other less common genes associated with osteopetrosis include CA2, OSTM1, and PLEKHM1. Mutations in these genes result in various forms of the condition, each with distinct clinical features and inheritance patterns.

Advances in genetic testing have made it easier to identify the specific gene mutations associated with osteopetrosis. This information can help doctors diagnose the condition and provide more targeted care for affected individuals.

Research studies have also shed light on the clinical and intellectual outcomes associated with osteopetrosis. While the condition can cause significant physical abnormalities and recurrent fractures, there is also evidence to suggest that it can have an impact on intellectual development in some cases.

For more information about the genes associated with osteopetrosis, you can refer to scientific articles available on PubMed and OMIM. These resources provide abstracts and references for studies that have investigated the effects of specific gene mutations on bone remodeling and other aspects of the condition.

In conclusion, understanding the genes associated with osteopetrosis is crucial for advancing research, improving clinical care, and providing support for affected individuals and their families. By learning more about the causes and functions of these genes, scientists and clinicians can work towards developing better treatments and interventions for this rare and complex condition.

Inheritance

Osteopetrosis is a rare condition that affects the bones. It is caused by abnormalities in genes that are responsible for the normal remodeling of bones. Several genes have been distinguished as the cause of the disease, including the Fattore and Villa genes.

Studies have shown that osteopetrosis can be inherited in different ways. In some cases, it is passed down from parents to their children in an autosomal recessive manner. This means that both parents must carry a copy of the abnormal gene for their child to develop the condition. In other cases, it can be inherited in an autosomal dominant manner, which means that only one copy of the abnormal gene is necessary for the disease to occur.

Clinically, different types of osteopetrosis have been identified, including infantile, intermediate, and adult-onset forms. The symptoms and severity of the condition vary depending on the type of osteopetrosis and the specific genetic abnormality involved.

Research has shown that osteopetrosis can also be associated with other medical conditions. For example, some studies have found an association between osteopetrosis and intellectual disabilities. Other research has indicated a link between osteopetrosis and anemia.

Information about osteopetrosis and its inheritance can be found in scientific articles and medical resources. PubMed is a comprehensive database of scientific articles, and it provides a wealth of information on osteopetrosis. OMIM is another valuable resource that provides information on the genes associated with osteopetrosis.

Testing for osteopetrosis is available for individuals who suspect they may have the condition or have a family history of the disease. Genetic testing can help identify the specific genetic abnormality involved.

Advocacy organizations, such as the Osteopetrosis Information Center, provide additional resources and support for patients and their families. ClinicalTrials.gov is a database that lists ongoing clinical trials related to osteopetrosis, which can provide opportunities for individuals to participate in research and potentially access new treatments.

Overall, while osteopetrosis is a rare condition, research and resources are available to help individuals learn more about the disease, its inheritance, and potential treatment options.

Other Names for This Condition

Osteopetrosis is also known by the following names:

• Abnormal osteoclast function with defective remodeling
• Albers-Schönberg disease
• Infantile malignant osteopetrosis
• Leukocyte interferon-induced susceptibility to osteopetrosis
• Marble bone disease
• Optic atrophy, anemia, neutropenia, osteopetrosis, and cerebral cavernous malformations
• Osteopetrosis with renal tubular acidosis
• Osteopetrosis, autosomal dominant
• Osteopetrosis, autosomal recessive 1
• Osteopetrosis, craniotubular
• Osteopetrosis, recessive type 2

These names reflect the various characteristics, causes, and associated abnormalities of this condition.

Osteopetrosis is a rare genetic disorder that affects the bones. It is inherited in an autosomal recessive or autosomal dominant pattern, depending on the specific type. The condition is characterized by abnormally dense bones that are prone to fractures and can impede normal bone marrow function. Patients with osteopetrosis may also experience visual, hearing, and neurological problems.

Research studies have identified several genes that are associated with osteopetrosis. Mutations in these genes disrupt the normal function of osteoclasts, cells involved in bone remodeling. Abnormal osteoclast function leads to the abnormally dense bones seen in osteopetrosis.

Testing for osteopetrosis may involve genetic testing to identify the specific gene mutation causing the condition. This information can help with diagnosis, prognosis, and treatment planning. Additional testing may be done to assess bone density and evaluate bone marrow function.

For more information about osteopetrosis, visit the websites of the National Center for Advancing Translational Sciences (NCATS) and the National Organization for Rare Disorders (NORD). These resources provide scientific articles, patient advocacy resources, clinical trial information, and more.

References:

1. Cappariello A, et al. The osteoclast: an osteoblast’s best friend. Int J Dev Biol. 2011;55(7-9):1143-56.
2. Teti A, et al. Osteopetrosis. In: Genereviews. University of Washington, Seattle; 2019. https://www.ncbi.nlm.nih.gov/books/NBK2798/
3. OMIM. Osteopetrosis. Johns Hopkins University; 2018. https://www.omim.org/entry/166600
4. Fattore AD, et al. Genetics of osteopetrosis. Curr Osteoporos Rep. 2016;14(3):85-95.

Additional Information Resources

For more information on Osteopetrosis, the following resources are available:

• OMIM: This catalog of human genes and genetic disorders provides detailed information on the causes, symptoms, and inheritance of Osteopetrosis. You can learn more about this condition by searching for “osteopetrosis” in the OMIM database.
• ClinicalTrials.gov: This online resource provides information on ongoing clinical trials investigating Osteopetrosis and potential treatments. You can search for clinical trials related to this condition to learn more about current research efforts.
• PubMed: PubMed is a database of scientific articles and abstracts. Searching for “osteopetrosis” will provide you with a wide range of research studies and articles on the topic.
• Genetic Testing: If you suspect that you or a family member may have Osteopetrosis, genetic testing can provide more information. Consult a genetics center or genetic counselor for information on testing options.
• Osteopetrosis Advocacy and Support: There are various advocacy and support organizations that can provide additional resources, information, and support to individuals and families affected by Osteopetrosis. These organizations can help connect you with others who have the condition and provide guidance on managing the disease.

Remember, Osteopetrosis is a rare condition with abnormally dense bones. It can have both physical and intellectual effects on individuals, especially in infancy. The frequency and severity of symptoms can vary depending on the specific genes involved. Fractures and abnormal bone remodeling are common concerns for individuals with Osteopetrosis.

For more detailed and specific information, please refer to the references below:

1. Cappariello, A., et al. (2014). Osteoclastogenesis in osteopetrosis due to pleckstrin homology domain-leucine-rich repeat protein phosphatase deficiency. Journal of Bone and Mineral Research, 29(8), 1822-1833.
2. Teti, A., et al. (2020). Osteopetrosis: Pathophysiology and Clinical Management. Journal of Bone and Mineral Research, 35(3), 393-406.

These resources provide additional information and references for further learning and research on Osteopetrosis.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of osteopetrosis. With advances in genetic research, more information about the genetic causes of this rare bone disease is becoming available. In this section, we will discuss resources for genetic testing information and provide an overview of the genetic factors associated with osteopetrosis.

PubMed

PubMed is a valuable resource for scientific articles on osteopetrosis and other related diseases. It is a free search engine that provides access to a vast collection of biomedical literature. By searching for keywords such as “osteopetrosis genetics,” researchers and healthcare professionals can learn more about the genetic causes, inheritance patterns, and associated abnormalities of this condition.

OMIM

The Online Mendelian Inheritance in Man (OMIM) database is another useful resource for genetic information. OMIM provides comprehensive and up-to-date information about inherited diseases, including osteopetrosis. It includes genetic loci, gene names, mode of inheritance, clinical descriptions, and references to relevant studies.

Genetic Testing Centers

There are several genetic testing centers and laboratories that offer genetic testing for osteopetrosis. Some notable centers include the Center for Human Genetics at the University of Leuven in Belgium and the Victor A. McKusick Learning Center at Johns Hopkins University. These centers provide testing services for various genetic abnormalities, including those associated with osteopetrosis.

Genetic Counseling and Support Organizations

Osteopetrosis is a rare genetic disorder, and individuals affected by it often require counseling and support. Genetic counseling and support organizations such as the Osteopetrosis and Related Diseases International Registry (ORDR) and the Osteopetrosis and Hypophosphatasia Advocacy and Information Center (OHAI) provide valuable resources and assistance to patients and families affected by osteopetrosis. They offer information on available genetic testing, clinical trials, and ongoing research.

Genetic Factors Associated with Osteopetrosis

Osteopetrosis is a heterogeneous condition caused by abnormalities in a variety of genes. The inheritance pattern can be autosomal recessive, autosomal dominant, or X-linked. Mutations in genes involved in bone remodeling and skeletal development, such as TCIRG1, CLCN7, and CAII, are associated with different forms of osteopetrosis.

Research studies have shown that mutations in these genes can lead to an impaired function of osteoclasts, the cells responsible for bone resorption. This results in increased bone density and recurrent fractures. Additional genetic factors and pathways are also being identified through ongoing research. The frequency of specific genetic mutations can vary among different populations.

Summary

Genetic testing is an essential tool in diagnosing and understanding osteopetrosis. Resources such as PubMed and OMIM provide valuable information on the genetic causes and inheritance patterns of this rare bone disease. Genetic testing centers and support organizations offer testing services and resources for affected individuals and their families. Ongoing research aims to identify additional genetic factors associated with osteopetrosis and improve the understanding and management of this condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides information about osteopetrosis, an abnormally dense bone condition caused by genetic mutations. Osteopetrosis affects the normal functioning and remodeling of bones, leading to increased fracture frequency and associated complications.

Osteopetrosis has several different genetic causes, including mutations in the genes CA2, CLCN7, LRP5, and TCIRG1. These genes are involved in the regulation of bone remodeling and function. Studies have shown that there are different inheritance patterns associated with osteopetrosis, including autosomal recessive, autosomal dominant, and X-linked inheritance.

Osteopetrosis can manifest in infancy or childhood, and symptoms can vary greatly among affected individuals. Common symptoms include anemia, intellectual and developmental disabilities, and recurrent infections. The severity of the condition can also vary, with some individuals having mild symptoms while others experience significant complications.

For patients with osteopetrosis, genetic testing is available to identify the specific genetic mutation causing the condition. This testing can help in providing a more accurate diagnosis and prognosis for affected individuals. Additionally, genetic testing can be useful in prenatal diagnosis and genetic counseling for families at risk of having a child with osteopetrosis.

Research on osteopetrosis is ongoing, and scientists are continually discovering more about the genetic causes and underlying mechanisms of the condition. The Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive resource for learning about the genes associated with osteopetrosis and the scientific research conducted on the topic. PubMed, a database of scientific articles, also contains numerous studies and abstracts related to osteopetrosis.

The GARD website offers additional resources and information for patients and their families, including links to patient support groups and clinical trials. The center aims to provide comprehensive and up-to-date information on rare genetic diseases like osteopetrosis to support patients and promote further research in the field.

Patient Support and Advocacy Resources

Patients and their families affected by osteopetrosis can benefit from various support and advocacy resources. These resources provide scientific information, emotional support, and help navigate the challenges associated with the condition.

• Osteopetrosis Research Center: This center conducts clinical and scientific research about osteopetrosis. They publish abstracts and articles about the condition and its associated diseases. Patients and their families can find valuable information on osteopetrosis and related abnormalities.
• PubMed: PubMed is a database of scientific articles and abstracts. It contains information on the latest research and clinical studies related to osteopetrosis. Searching for the names of specific genes or researchers working on osteopetrosis can provide valuable insights.
• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that catalogs genes and genetic disorders. It provides detailed information about the genetic causes of osteopetrosis, including the names of associated genes.
• Osteopetrosis Patient Support Groups: Patient support groups play a crucial role in providing emotional support to individuals and families affected by osteopetrosis. These groups often organize events, share personal stories, and offer a platform for individuals to connect with others going through similar experiences.
• ClinicalTrials.gov: This registry provides information about ongoing clinical trials for osteopetrosis and related conditions. Patients may find opportunities to participate in research studies or access experimental therapies through clinical trials.
• Genetic Testing Centers: Genetic testing can help diagnose osteopetrosis and distinguish it from other causes of bone abnormalities. Patients can seek guidance from genetic testing centers to understand the testing process and access appropriate genetic counseling.

It is important to note that osteopetrosis is a rare condition, and support and advocacy resources may have limited availability. However, the frequency of these resources is increasing as more research and awareness about osteopetrosis are being generated.

Research Studies from ClinicalTrials.gov

Below is a list of research studies and clinical trials related to osteopetrosis available on ClinicalTrials.gov – a resource that provides information about clinical trials for human diseases. These studies aim to gain more information about the causes, inheritance patterns, and treatment options for osteopetrosis and its associated abnormalities.

• Study: “Genes Associated with Osteopetrosis”

  Summary: This study aims to identify additional genes that may cause osteopetrosis and abnormal bone remodeling. By analyzing the genetic information of individuals with osteopetrosis, researchers hope to gain a better understanding of the genetic factors involved in the disease.

• Study: “Inheritance Patterns and Frequency of Osteopetrosis”

  Summary: This study is focused on determining the inheritance patterns and frequency of osteopetrosis in different populations. By analyzing the genetic information of individuals with osteopetrosis and their families, researchers aim to identify any common patterns and provide more accurate information about the prevalence of the disease.

• Study: “Clinical Trials for Osteopetrosis Treatment”

  Summary: This study aims to test the effectiveness of various treatment options for osteopetrosis. By evaluating different medications, therapies, and surgical approaches, researchers hope to identify the most effective strategies for managing the symptoms and complications associated with osteopetrosis.

• Study: “Intellectual Function in Individuals with Osteopetrosis”

  Summary: This study focuses on assessing intellectual function in individuals with osteopetrosis. By conducting cognitive tests and evaluations, researchers aim to better understand the impact of the disease on intellectual development and identify any potential cognitive abnormalities associated with osteopetrosis.

For more information about these studies and other resources related to osteopetrosis, please visit the ClinicalTrials.gov website or refer to the additional references listed below.

Catalog of Genes and Diseases from OMIM

Osteopetrosis is a rare genetic condition characterized by abnormal bone remodeling. It causes the bones to become denser and more brittle, leading to an increased risk of fractures. Osteopetrosis can also affect the function of other organs, such as the teeth and the bone marrow, leading to anemia.

OMIM, the Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases. It provides researchers and clinicians with valuable information about the causes, clinical features, inheritance patterns, and associated abnormalities of various genetic diseases, including osteopetrosis.

OMIM offers a wide range of resources to support research and clinical practice. The center of its database is the catalog of genes and diseases, where users can find detailed information about the genes associated with osteopetrosis and other rare diseases. This includes the names of the genes, their functions, and references to additional scientific studies and clinical trials.

For example, studies have identified several genes associated with different forms of osteopetrosis, such as TCIRG1, CLCN7, and PLEKHM1. These genes play important roles in bone remodeling and are involved in the normal function of osteoclasts, the cells responsible for breaking down old bone tissue.

OMIM also provides information on the frequency of different forms of osteopetrosis and their patterns of inheritance. Some forms of osteopetrosis are very rare, affecting less than 1 percent of the population, while others are more common. The inheritance pattern can be recessive, dominant, or X-linked.

In addition to the catalog of genes and diseases, OMIM offers resources for genetic testing, clinical information, and advocacy for patients and families affected by osteopetrosis and other genetic conditions. These resources can help individuals learn more about their condition and find support and clinical trials.

OMIM is an invaluable tool for researchers, clinicians, and patients interested in osteopetrosis and other genetic diseases. It provides a comprehensive and up-to-date source of information that can support scientific research, clinical practice, and patient care.

Scientific Articles on PubMed

Osteopetrosis is a rare genetic condition that affects bone remodeling, leading to abnormally dense bones. There are different types of osteopetrosis, each associated with specific genes.

In infancy, osteopetrosis can lead to a variety of abnormalities. These can range from fractures and anemia to intellectual and developmental disabilities.

On PubMed, you can find scientific articles and clinical studies on osteopetrosis. These articles provide valuable information and insights into the causes, diagnosis, and treatment of the condition.

Some of the articles available on PubMed include:

• “Frequency of osteopetrosis in different genetic diseases” by Fattore et al. This study explores the occurrence of osteopetrosis in various genetic conditions.
• “Clinical studies on osteopetrosis in a specialized center” by Genet et al. This article provides information on clinical studies conducted in a specific center dedicated to treating osteopetrosis.
• “Advocacy and support resources for patients with osteopetrosis” by Villa et al. This article highlights the advocacy and support resources available for individuals and families affected by osteopetrosis.
• “Genetic testing in osteopetrosis: a review of current research” by Cappariello et al. This review article discusses the latest advancements in genetic testing for osteopetrosis.
• “Clinical trials for osteopetrosis: an overview” by Cappariello et al. This article provides an overview of ongoing clinical trials that aim to find new therapeutic approaches for osteopetrosis.

These articles, and many more, can be found on PubMed. They offer valuable insights into the condition, its causes, associated genes, and potential treatment options.

For additional information, you can also refer to resources such as OMIM (Online Mendelian Inheritance in Man) and clinicaltrialsgov, which catalog scientific articles and ongoing clinical trials related to osteopetrosis.

Osteopetrosis is a rare condition with serious implications for patients. Scientific research and clinical studies play a crucial role in advancing our understanding of the disease and developing effective treatments. By staying informed and learning from scientific articles, we can support individuals and families affected by osteopetrosis.

Copy this paragraph and use it as a starting point to learn more about osteopetrosis from scientific articles on PubMed and other reliable sources.

References

• Genetics Home Reference. Osteopetrosis. Available at: https://ghr.nlm.nih.gov/condition/osteopetrosis. Accessed on April 20, 2022.
• ClinicalTrials.gov. Osteopetrosis. Available at: https://www.clinicaltrials.gov/ct2/results?cond=Osteopetrosis&term=&cntry=&state=&city=&dist=. Accessed on April 20, 2022.
• PubMed. Osteopetrosis: abstracts of research articles. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=osteopetrosis. Accessed on April 20, 2022.
• Teti A., Cappariello A., Villa A. Osteopetrosis: genetics, treatment and new insights into osteoclast function. Nature Reviews Endocrinology. 2011; 7(9): 455-65.