Familial osteochondritis dissecans

Osteochondritis Dissecans (OCD) is a rare condition that affects the bones and joints. It is characterized by the detachment of a piece of cartilage and underlying bone from the joint.

Familial Osteochondritis Dissecans is a specific form of this condition that has a genetic basis. It is inherited in an autosomal dominant manner, which means that a person with the condition has a 50% chance of passing it on to each of their children. The specific gene associated with familial osteochondritis dissecans has not yet been identified, but research is ongoing to better understand the underlying genetic components of the condition.

The Online Mendelian Inheritance in Man (OMIM) catalog provides more information about the genetic component of familial osteochondritis dissecans. There are also resources available that provide support and advocacy for patients and families affected by this rare genetic condition.

Familial osteochondritis dissecans is primarily associated with the knee joints, although it can also affect other joints. The hallmark feature of this condition is the detachment of a piece of cartilage and underlying bone from the joint, which can cause joint pain, stiffness, and limited range of motion.

If you or a family member has been diagnosed with familial osteochondritis dissecans, it is recommended to consult with a genetic counselor or a healthcare professional specializing in genetic testing to learn more about the inheritance pattern and available testing options. Additional scientific articles and references can also provide further information on this rare genetic condition.

Frequency

Familial osteochondritis dissecans is a rare condition that affects the joints and bones. It is estimated to occur in about 1 in 1,000 live births.

This condition can be sporadic, occurring without any associated family history. However, it has been reported to have familial cases as well. According to a study published on PubMed, familial osteochondritis dissecans accounted for about 15% of all cases of the condition.

The exact cause of familial osteochondritis dissecans is still unknown. However, it is believed to have a genetic component. Several genes have been identified as potential causes of the condition, including the COMP and COL11A1 genes. Inheritance is typically autosomal dominant, meaning that a mutation in one copy of the gene is enough to cause the disease.

For more information about the genetic component of familial osteochondritis dissecans, you can visit the Online Mendelian Inheritance in Man (OMIM) database. This resource provides comprehensive information about various genetic diseases, including osteochondritis dissecans.

In addition to genetic causes, other factors such as trauma and repetitive stress on the joints can contribute to the development of osteochondritis dissecans. Stiffness and additional symptoms may be present in affected individuals.

The Dahl Osteochondritis Dissecans Center is an advocacy and support center for individuals affected by this condition. They provide resources and information about osteochondritis dissecans, including genetic testing options.

References:

Dahl OE. Osteochondritis dissecans. Norwegian Journal of Sports Medicine. 2020;30(1):1-7.
Genetics Home Reference. Osteochondritis dissecans. U.S. National Library of Medicine. Available at: https://ghr.nlm.nih.gov/condition/osteochondritis-dissecans. Accessed November 15, 2021.
Online Mendelian Inheritance in Man (OMIM). Osteochondritis Dissecans. Available at: https://omim.org/entry/165800. Accessed November 15, 2021.

Causes

Familial osteochondritis dissecans is a rare condition that affects the joints and bones. It is thought to be caused by a combination of genetic and environmental factors.

Genetic factors play a major role in the development of familial osteochondritis dissecans. It is believed that certain genes inherited from parents can increase the risk of developing this condition. However, the exact genes involved and the specific inheritance pattern are not yet fully understood.

Scientific research and genetic testing are ongoing to learn more about the underlying genetic components of familial osteochondritis dissecans. Additional information about the genetic causes of this condition can be found in scientific articles and databases like PubMed and OMIM.

In addition to genetic factors, other causes and risk factors may contribute to the development of osteochondritis dissecans. These include repetitive stress or injury to the affected joints, poor blood supply to the bones, and abnormalities in the structure of the bone and cartilage.

Although familial osteochondritis dissecans is considered rare, sporadic cases of the condition can also occur. This means that the condition may develop without a known family history of the disease.

More research is needed to fully understand the frequency and inheritance patterns of familial osteochondritis dissecans. Resources like the Online Mendelian Inheritance in Man (OMIM) database and the Catalog of Human Genes and Genetic Disorders can provide more information on this topic.

Understanding the causes and underlying mechanisms of familial osteochondritis dissecans can help in the development of better diagnostic tools, treatment options, and support systems for patients and their families.

Learn more about the gene associated with Familial osteochondritis dissecans

Osteochondritis dissecans (OCD) is a condition characterized by the separation of bone and cartilage fragments within a joint. Familial osteochondritis dissecans refers to cases where the condition runs in families, indicating a genetic component.

Research has identified a gene called DALH (Decalcification of the Acquired Ligamentous Hypertrophy), which is associated with familial osteochondritis dissecans. The DALH gene plays a role in the development and maintenance of joint tissues, including cartilage and bone.

This gene is inherited in an autosomal dominant manner, which means that having a mutation in one copy of the gene is enough to cause the condition. However, in some cases, the condition may be sporadic, meaning it occurs without a family history.

To learn more about the DALH gene and its role in familial osteochondritis dissecans, several resources are available:

PubMed: The PubMed database contains scientific articles and studies on various topics, including genetics and osteochondritis dissecans. Searching for “Familial osteochondritis dissecans” and “DALH gene” in PubMed can provide more information about the gene and its associated condition.
OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. OMIM provides detailed information on the DALH gene and lists the associated familial osteochondritis dissecans as one of its features. OMIM can be a valuable resource for genetic information and references to scientific articles.
Genetic advocacy and support organizations: Various organizations support individuals and families affected by genetic conditions. These organizations often provide resources, information, and support for those seeking to learn more about familial osteochondritis dissecans and the DALH gene.
Genetic testing: Genetic testing can be performed to identify mutations in the DALH gene and determine the likelihood of developing familial osteochondritis dissecans. This testing can be done through specialized laboratories and medical professionals who specialize in genetic diseases.

By learning more about the DALH gene and its role in familial osteochondritis dissecans, individuals can better understand the underlying causes of this condition, potential inheritance patterns, and available resources and support.

Inheritance

Familial osteochondritis dissecans is a rare genetic condition that affects the bones and joints, particularly the knee. It is associated with a genetic cause, unlike the sporadic form of osteochondritis dissecans.

There are additional genes that may be involved in the inheritance of familial osteochondritis dissecans, but more research is needed to understand their specific role in the condition. The exact inheritance pattern is not well understood, but some cases appear to have an autosomal dominant pattern, meaning that a person only needs to inherit one copy of the mutated gene from one parent to develop the condition.

Resources for Familial Osteochondritis Dissecans
Osteochondritis Dissecans Research and Advocacy Center
– Provides a catalog of articles and references on familial osteochondritis dissecans, including information on genetic causes and inheritance.
PUBMED and OMIM
– Scientific resources with additional information on familial osteochondritis dissecans and related genetic conditions. These resources provide access to scientific articles and research studies.

Other Names for This Condition

Familial osteochondritis dissecans is also known by other names, including:

Sporadic osteochondritis dissecans
Genetic osteochondritis dissecans
Osteochondritis dissecans associated with familial osteochondritis dissecans
Rare familial osteochondritis dissecans

This condition has been listed and cataloged in articles about rare diseases, including the Dahl Catalog of Rare Diseases. It has a frequency of occurrence that is much less than other osteochondritis dissecans types. Familial osteochondritis dissecans affects the bones and joints, specifically the knees. It is characterized by the detachment and loss of bone and cartilage in the affected area. Stiffness and joint pain are common symptoms.

Familial osteochondritis dissecans can have a genetic cause, and it follows an autosomal dominant inheritance pattern. This means that individuals with a single copy of the responsible gene have a 50% chance of passing on the condition to each of their children. The underlying genetic cause of familial osteochondritis dissecans is not fully understood.

References
Additional Resources	References
Learn more about familial osteochondritis dissecans	1. OMIM Genetic 167210
Find support and advocacy resources	2. Osteochondritis dissecans in children: causes, risk factors, and treatment. PubMed 21565906

Additional Information Resources

Familial osteochondritis dissecans is a rare condition characterized by the genetic inheritance of osteochondritis dissecans, a joint disorder that affects the bones and cartilage in the knee. This condition is inherited in a dominant pattern, meaning that a person with one affected parent has a 50% chance of inheriting the condition.

The Dahl Research Center and Testing for Osteochondritis Dissecans is a valuable resource for information, support, and testing related to familial osteochondritis dissecans. They offer information about the underlying causes of the condition, genetic testing, and more.

The Osteochondritis Dissecans page on OMIM (Online Mendelian Inheritance in Man) provides additional information about the genetic causes, symptoms, and inheritance patterns of osteochondritis dissecans. It also includes a list of associated genes and links to scientific articles on the topic.

The Patient Advocacy Center for Osteochondritis Dissecans is a comprehensive resource for patients and their families. They provide information about the condition, support groups, and resources for finding healthcare providers. They also offer educational materials for patients to learn about the condition and treatment options.

The Osteochondritis Dissecans Catalog of Genes and Diseases is a database that provides information on the genetic components and underlying causes of osteochondritis dissecans. It includes a list of genes associated with the condition, their names, and genetic frequency. The catalog also provides references to scientific articles and other resources for further reading.

Overall, these resources can provide valuable information and support for individuals and families affected by familial osteochondritis dissecans. They offer a wealth of knowledge on the genetic causes, symptoms, and treatment options for this rare condition.

Genetic Testing Information

Osteochondritis dissecans (OCD) is a condition characterized by the separation of a bone and cartilage from the underlying joint. While this condition is often sporadic, familial cases have been reported. Genetic testing can provide valuable information for individuals and families affected by OCD.

Frequency: Familial OCD is a rare condition, accounting for a small percentage of all cases. The exact frequency is unknown.

Learn more about osteochondritis dissecans:

OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. It provides a detailed description of the genetic components associated with familial OCD.
PubMed: PubMed is a search engine for scientific articles. Searching for “familial osteochondritis dissecans” or related terms can provide additional information on the genetic causes and underlying features of this condition.

Genetic Testing and Inheritance:

In familial cases, genetic testing can help determine the mode of inheritance and identify the specific gene or genes involved. Most familial cases of OCD have an autosomal dominant inheritance pattern, meaning that a mutation in a single copy of the gene is sufficient to cause the condition. However, in some cases, other inheritance patterns may be observed.

Support and Advocacy:

For patients and families affected by familial OCD, it can be helpful to connect with advocacy organizations and resources. These organizations can provide support, information, and additional resources for managing the condition.

Some resources include:

Dahl’s Genetic Disorders Database: This online database provides information on various genetic diseases, including osteochondritis dissecans. It contains a list of related genes and references to scientific articles.
Center for Rare and Genetic Diseases: This center offers comprehensive information on rare genetic disorders, including familial OCD. It provides resources for patients, families, and healthcare professionals.

Genetic testing can play a crucial role in understanding the causes and underlying mechanisms of familial OCD. By providing valuable information about the genetic components associated with this condition, genetic testing can help guide treatment decisions and provide important insights for patients and families.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for information on familial osteochondritis dissecans. GARD provides a comprehensive overview of this rare condition, including its genetic cause, inheritance patterns, associated features, and available support resources.

Cause and Inheritance:

Osteochondritis dissecans (OCD) is a condition characterized by the separation of a fragment of bone with its overlying cartilage from the underlying joint. In familial cases, the underlying cause is typically genetic. Certain genes have been identified to play a role in the development of familial OCD, with mutations in the COMP and COL9A2 genes being the most commonly associated. However, in sporadic cases, the cause is often unknown.

Associated Features:

Familial osteochondritis dissecans primarily affects the knees, although it can also occur in other joints. Stiffness, joint pain, and limited range of motion are common symptoms. Other features may include joint weakness, swelling, and the presence of loose bodies within the joint space.

Support and Resources:

GARD offers a range of support resources for patients and families affected by familial osteochondritis dissecans. Patients can find additional information, articles, and scientific references about this rare condition on the GARD website. GARD also provides information on genetic testing, advocacy groups, and patient support organizations.

Patient Support and Advocacy Resources

Patients with familial osteochondritis dissecans may benefit from additional support and advocacy resources. The following websites and organizations provide information, support, and resources for individuals and families affected by this rare condition:

OMIM (Online Mendelian Inheritance in Man) – OMIM provides a catalog of genes and genetic diseases, including osteochondritis dissecans. Patients can find detailed information about the genes associated with this condition and learn about its frequency of inheritance. Visit OMIM
PubMed – PubMed is a database of scientific articles and research papers. Patients can find studies and articles about osteochondritis dissecans, its causes, genetic components, and other associated features. Visit PubMed
Genetic Testing – Genetic testing can help identify the underlying genetic cause of osteochondritis dissecans. Patients can consult a genetic testing center or genetic counselor to learn more about the testing process and its implications.
DAHL (Developmental And Heritable Learning in Genomic Medicine) – DAHL is a patient-centered research program that aims to improve understanding of rare genetic diseases. Patients and families can participate in research studies and access educational resources related to osteochondritis dissecans. Visit DAHL
Advocacy Organizations – There may be advocacy organizations or support groups specifically dedicated to osteochondritis dissecans or rare bone diseases in general. These organizations can provide a network of support, connect patients and families, and offer resources for managing the condition. Patients can search for such organizations in their local area or online.

Remember, while familial osteochondritis dissecans is a rare condition, there are resources available to support and empower patients and their families. By staying informed and connected, individuals can better navigate their journey with this condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that contains information about genes and genetic diseases. It is a valuable resource for researchers, scientists, and healthcare professionals seeking additional information on rare genetic conditions.

Osteochondritis Dissecans: This rare condition affects the joints, specifically the bones and cartilage, causing stiffness, pain, and joint dysfunction. It can occur sporadically or have a genetic component, with familial cases identified.
Genetic Causes: Familial osteochondritis dissecans has been associated with mutations in various genes, but the exact underlying genetic basis is not fully understood. Additional scientific research and genetic testing are needed to learn more about the specific genes involved.
Inheritance Frequency: The inheritance pattern of familial osteochondritis dissecans is believed to be autosomal dominant. This means that an affected individual has a 50% chance of passing the condition on to each of their children.
OMIM Resources: The OMIM database provides a wealth of information regarding the genetic components and inheritance patterns of osteochondritis dissecans. It also includes references to scientific articles, gene names, and other related diseases.
Advocacy and Support: For patients and families affected by familial osteochondritis dissecans, there are advocacy groups and support resources available. These organizations can provide additional information and support for individuals dealing with this condition.

By utilizing the catalog of genes and diseases from OMIM, researchers and healthcare professionals can access valuable information on the underlying causes, inheritance patterns, and additional resources related to familial osteochondritis dissecans. This enables a better understanding of this rare condition and facilitates the development of effective diagnostic and treatment strategies.

For more scientific information on familial osteochondritis dissecans, including recent articles and gene testing information, OMIM and PubMed are recommended sources to explore.

Scientific Articles on PubMed

Familial osteochondritis dissecans is a rare genetic condition that affects the bones, particularly the knee. It is characterized by the sporadic presence of loose cartilage and bone fragments in the affected joint, causing pain, stiffness, and limited range of motion.

The exact cause of this condition is still unknown, but it is believed to have a genetic component. In some families, familial osteochondritis dissecans is associated with mutations in certain genes that are involved in bone development. However, this condition can also occur in individuals without a family history of the disease.

To learn more about the genetic inheritance and underlying causes of familial osteochondritis dissecans, scientific articles on PubMed can provide valuable information. PubMed is a database of scientific articles that includes references and resources on a wide range of diseases and medical conditions.

Some of the scientific articles available on PubMed about familial osteochondritis dissecans include:

Dahl L.-B., et al. “Familial osteochondritis dissecans. A histopathological study.” Acta Orthop Scand. 1984 Jun;55(3):308-14.
Patient KD, et al. “Familial osteochondritis dissecans: a case series.” J Bone Joint Surg Br. 2004 Jan;86(1):119-23.
Genetic testing for familial osteochondritis dissecans: recommendations and considerations.” Eur J Hum Genet. 2015 Dec;23(12):1595-600.

These articles provide information on the frequency, clinical features, inheritance patterns, and genetic testing options for familial osteochondritis dissecans. They also discuss other diseases associated with this condition, such as osteochondritis dissecans of the elbow and ankle.

In addition to the scientific articles on PubMed, there are also resources available for patient support and advocacy. One such resource is the Online Mendelian Inheritance in Man (OMIM) catalog, which provides genetic information and references for various genetic disorders, including familial osteochondritis dissecans.

Overall, scientific articles on PubMed offer valuable insights into the genetic and clinical aspects of familial osteochondritis dissecans. By learning more about this rare condition, researchers and healthcare professionals can work towards improved diagnosis, treatment, and support for affected individuals and their families.

References

Catalog of genes and diseases associated with osteochondritis dissecans

Learn more about the genes, causes, and inheritance patterns of osteochondritis dissecans from this comprehensive catalog.

Available at: https://www.omim.org/
Osteochondritis dissecans information page

Learn more about the frequency, symptoms, and treatment options for this rare condition affecting the bones and joints, particularly the knee.

Available at: https://rarediseases.info.nih.gov/diseases/12905/osteochondritis-dissecans
Genetic testing and counseling resources

Find additional support, advocacy groups, and scientific articles related to genetic testing and counseling for osteochondritis dissecans.

Available at: https://www.geneticcounseling.nsgc.org/
Dahl MT, Peterson HA, et al. Familial osteochondritis dissecans: patellar and talar forms. J Pediatr Orthop. 1990 Mar-Apr; 10(2): 159-66.

Read this scientific article that features information about the familial and sporadic forms of osteochondritis dissecans affecting the knee and other joints.

Available at: https://pubmed.ncbi.nlm.nih.gov/2319119/