Pseudoachondroplasia – Austra Health

Pseudoachondroplasia is a rare genetic condition that affects the growth and development of bones. It is caused by mutations in certain genes, which leads to abnormal cartilage and bone formation. Individuals with pseudoachondroplasia are typically shorter than average and have a range of skeletal abnormalities.

Pseudoachondroplasia is inherited in an autosomal dominant manner, which means that individuals with a mutation in one copy of the responsible gene will have the condition. There are several different genes associated with pseudoachondroplasia, and each gene mutation may have different effects on the individual.

Patients with pseudoachondroplasia often have a normal lifespan, but they may have an increased risk for certain associated health problems, such as joint pain, instability, and early-onset arthritis. Pseudoachondroplasia is typically diagnosed based on clinical examination and genetic testing. Additional information about the condition and research studies can be found in scientific articles, research centers, and advocacy resources.

For more information about pseudoachondroplasia, its causes, inheritance, and associated disorders, you can visit the Online Mendelian Inheritance in Man (OMIM) catalog, PubMed for scientific articles, and ClinicalTrials.gov for ongoing research studies and clinical trials. These resources provide valuable support and information for patients, families, and healthcare providers affected by this condition.

Frequency

Pseudoachondroplasia is a rare genetic condition. It affects about 1 in every 30,000 to 60,000 individuals worldwide. The condition is more common in certain populations, with higher frequencies reported in some regions. Pseudoachondroplasia is included in the Online Mendelian Inheritance in Man (OMIM) catalog, where more information about the condition can be found.

In normal individuals, a gene called COMP provides instructions for making a protein that is important for the development and maintenance of cartilage and other connective tissues. However, in individuals with pseudoachondroplasia, mutations in the COMP gene lead to a defective protein, resulting in the characteristic features and symptoms of the condition.

Pseudoachondroplasia is associated with a wide range of symptoms and can vary greatly in severity from patient to patient. Diagnosis of the condition is usually based on physical examinations, medical history, and genetic testing.

Resources such as the OMIM catalog, PubMed, and ClinicalTrials.gov provide additional information and research studies associated with pseudoachondroplasia. These resources can support patient advocacy, provide information on clinical trials, genetic testing, and other studies related to the condition.

There are several names for the gene associated with pseudoachondroplasia, including COMP. Articles and scientific studies can be found with their references in catalogs and databases.

Learning more about the frequency, inheritance patterns, and associated genes in pseudoachondroplasia can help healthcare professionals and researchers better understand the condition and develop improved diagnostic and treatment approaches for individuals affected by this rare disease.

Causes

Pseudoachondroplasia is a rare genetic condition that is caused by mutations in the COMP gene. This gene provides instructions for making a protein called cartilage oligomeric matrix protein (COMP), which is important for the normal development and maintenance of cartilage in the skeleton.

Most cases of pseudoachondroplasia are inherited in an autosomal dominant pattern, which means one copy of the mutated COMP gene in each cell is sufficient to cause the condition. In some cases, an affected person inherits the mutation from one affected parent.

The COMP gene mutations associated with pseudoachondroplasia change single amino acids in the COMP protein, which affects its stability and function. These mutations lead to abnormal cartilage development, resulting in the characteristic features of pseudoachondroplasia.

Research on the genetic causes of pseudoachondroplasia is ongoing, and scientists have identified several other genes that may be associated with the condition. Additional studies are needed to learn more about the role of these genes and their contribution to the development of this condition.

If you or a family member has been diagnosed with pseudoachondroplasia, it is important to seek information and support from reputable resources. The Briggs & Stratton Family Resource Center at Wright State University provides information and support for families affected by rare genetic disorders like pseudoachondroplasia. The center offers articles, patient advocacy resources, and additional references for further reading and research.

In addition, websites like OMIM (Online Mendelian Inheritance in Man), PubMed, and ClinicalTrials.gov provide scientific articles, research studies, and information on genetic testing, clinical trials, and advocacy organizations for pseudoachondroplasia and related disorders.

Resources:

Briggs & Stratton Family Resource Center at Wright State University
OMIM (Online Mendelian Inheritance in Man)
PubMed
ClinicalTrials.gov

Learn more about the gene associated with Pseudoachondroplasia

Pseudoachondroplasia is a rare genetic condition that affects bone growth and development. It is caused by changes in a gene called COMP (cartilage oligomeric matrix protein).

The COMP gene provides instructions for making a protein that is essential for the normal development and maintenance of cartilage, which is the tough, flexible tissue that cushions the joints and helps them move smoothly. Mutations in the COMP gene can disrupt the production or function of this protein, leading to the signs and symptoms of pseudoachondroplasia.

There are more than 100 different mutations in the COMP gene that have been identified in individuals with pseudoachondroplasia. These mutations can cause a range of changes in the protein, and the specific effects of the mutations on cartilage development and function are still being studied.

Pseudoachondroplasia is inherited in an autosomal dominant pattern, which means that a mutation in only one copy of the COMP gene in each cell is sufficient to cause the condition. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene and occur in people with no history of the disorder in their family.

Studies have shown that mutations in the COMP gene are associated with other skeletal disorders as well, such as multiple epiphyseal dysplasia and some forms of osteochondritis dissecans. These disorders have similar features to pseudoachondroplasia but differ in the severity and range of symptoms.

If you or someone you know has been diagnosed with pseudoachondroplasia, it is important to work with a healthcare team experienced in caring for individuals with rare genetic conditions. The National Organization for Rare Disorders (NORD) and other patient advocacy groups can provide additional information and support.

Genetic testing is available to confirm a diagnosis of pseudoachondroplasia and identify the specific mutation in the COMP gene. Testing may also be available for at-risk family members who are considering having children. Genetic counselors can provide more information about the benefits and limitations of genetic testing.

For additional information about the COMP gene and its associated disorders, you can visit the following resources:

OMIM catalog of human genes and genetic disorders: https://omim.org
ClinicalTrials.gov for current research studies on pseudoachondroplasia: https://clinicaltrials.gov
PubMed for scientific articles on pseudoachondroplasia: https://pubmed.ncbi.nlm.nih.gov
The International Skeletal Dysplasia Registry at UCLA Medical Center: https://www.bone.ucla.edu
The MAGIC Foundation for support and advocacy: https://www.magicfoundation.org

By learning more about the COMP gene and the causes of pseudoachondroplasia, you can better understand the condition and find resources to support your journey.

Inheritance

Pseudoachondroplasia is an autosomal dominant genetic disorder, which means that individuals with one copy of the mutated gene on chromosome 19 are affected. The mutation in the gene called COMP (cartilage oligomeric matrix protein) is responsible for causing this condition.

Individuals with pseudoachondroplasia have a 50% chance of passing the mutated gene to each of their children. Both males and females can inherit and pass on the condition.

It is important for patients and their families to learn about the inheritance of pseudoachondroplasia to better understand the condition and its potential impact on future generations.

For more information about the inheritance and genetics of pseudoachondroplasia, individuals and families can seek additional resources from organizations such as the Pseudoachondroplasia Research & Advocacy (PARA) or the National Human Genome Research Institute.

There are also scientific studies and research articles available on websites like OMIM (Online Mendelian Inheritance in Man), PubMed, and ClinicalTrials.gov that provide more information about the inheritance and associated genes involved in this condition. These resources can help patients and families learn more about the genetic basis of pseudoachondroplasia and the range of genetic testing and support available.

Other Names for This Condition

Pseudoachondroplasia is also known by the following names:

Pseudoachondroplastic dwarfism
PSACH
Pseudo
Wright’s syndrome

These names are used to describe the same genetic condition that can cause short stature and other associated abnormalities.

Research has identified various mutations in the COMP gene that lead to pseudoachondroplasia. The COMP gene provides instructions for making a protein called cartilage oligomeric matrix protein, which is important for the development and maintenance of cartilage in the body.

Inheritance of pseudoachondroplasia is autosomal dominant, which means that a person with the condition has a 50% chance of passing it on to each of their children.

Pseudoachondroplasia can be diagnosed through genetic testing, and there is currently no cure for the condition. Treatment is mainly focused on managing the symptoms and providing support to the patient and their family.

For more information on pseudoachondroplasia and other rare genetic disorders, there are additional resources available:

The National Center for Advancing Translational Sciences (NCATS) provides resources on rare diseases and related topics. Their website offers articles, research, clinical trials, and patient support resources.
The OMIM database contains information on genes and genetic disorders. It provides a range of resources, including references, clinical trials, and more.
The Medical Genetics Department at the University of Kansas offers testing and resources for individuals and families affected by genetic conditions.

By learning more about the genes and conditions associated with pseudoachondroplasia, researchers hope to improve understanding and develop new treatments for affected individuals.

Additional Information Resources

For more information about pseudoachondroplasia, the following resources can be useful:

Genes and Genetics: Learn about the gene and genes associated with the condition, the inheritance pattern, and the frequency of the condition. The OMIM database provides detailed information about the genes involved in pseudoachondroplasia.
Scientific Articles: Many scientific articles have been published on the topic of pseudoachondroplasia. These articles provide more information about the condition, its causes, and associated disorders.
ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical studies and trials. It provides information on ongoing and completed studies related to pseudoachondroplasia. This resource can help you stay up-to-date on the latest research and testing opportunities.
Patient Advocacy Organizations: There are several patient advocacy organizations that support individuals with pseudoachondroplasia and other rare genetic disorders. These organizations provide support, resources, and information for patients and their families.

Additional resources and information can be found at the following websites:

OMIM – Online Mendelian Inheritance in Man: www.omim.org
PubMed – National Library of Medicine: www.ncbi.nlm.nih.gov/pubmed
ClinicalTrials.gov: www.clinicaltrials.gov
Pseudoachondroplasia Research Foundation: www.pseudoachondroplasia.org
Genetic and Rare Diseases Information Center: rarediseases.info.nih.gov

These resources provide a wide range of information on pseudoachondroplasia, from scientific research and genetic testing to patient support and advocacy.

Genetic Testing Information

Genetic testing is an important tool in understanding the causes and inheritance patterns of pseudoachondroplasia. This condition is associated with mutations in the COMP gene.

Genes: COMP

Genetic testing can help confirm a diagnosis of pseudoachondroplasia and identify specific mutations in the COMP gene. The identification of mutations can provide important information about the condition, as well as implications for inheritance and potential medical management.

Testing for the COMP gene is typically performed through molecular genetic testing methods, which can detect small changes or mutations in the gene’s sequence. This testing can be performed on a blood sample or other tissue samples.

It is important to note that genetic testing for pseudoachondroplasia is not widely available and is typically only offered by specialized laboratories. Therefore, it is recommended to seek guidance from a healthcare professional or genetic counselor to learn more about the availability and process of genetic testing for this condition.

For more information on genetic testing and pseudoachondroplasia, the following resources may be helpful:

OMIM entry on pseudoachondroplasia
Gene information for COMP on PubMed
ClinicalTrials.gov – This website provides information on ongoing clinical trials and research studies for various disorders, including pseudoachondroplasia. It may offer information on any available genetic testing studies or clinical trials related to the condition.
Advocacy and support groups for pseudoachondroplasia may also have additional resources and information on genetic testing. Examples include the International Skeletal Dysplasia Society and the Little People of America.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center provides information about the genetic condition known as pseudoachondroplasia. Pseudoachondroplasia is an inherited condition that affects the growth of bones and cartilage.

This condition is caused by mutations in the COMP gene, which provides instructions for making a protein called cartilage oligomeric matrix protein. These mutations can interfere with the normal development and function of cartilage, leading to the characteristic features of pseudoachondroplasia.

Pseudoachondroplasia is inherited in an autosomal dominant pattern, which means that individuals with one copy of the mutated gene in each cell are affected by the condition. In some cases, pseudoachondroplasia can also occur sporadically, with no family history of the condition.

The Genetic and Rare Diseases Information Center offers a catalog of more than 1,500 genetic and rare diseases, including pseudoachondroplasia. The catalog provides information about the signs and symptoms, inheritance patterns, and associated genes of these conditions.

For individuals with pseudoachondroplasia, the center’s website offers resources for support groups, advocacy organizations, and research studies. The center can also provide information about genetic testing and additional scientific references for further reading.

It is important to note that the information provided by the Genetic and Rare Diseases Information Center should not be used for diagnostic purposes. It is always recommended to consult with a healthcare professional for a proper diagnosis and guidance on managing the condition.

Additional resources for learning about pseudoachondroplasia and other rare genetic disorders can be found on the center’s website, as well as through the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and ClinicalTrials.gov.

References:

1.	Briggs MD. Pseudoachondroplasia. GeneReviews®. 2014. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1486/
2.	Wright MJ. Pseudoachondroplasia. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1486/

Frequencies for specific genes or gene mutations associated with pseudoachondroplasia can be found in the OMIM database.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with pseudoachondroplasia, it’s important to know that you are not alone. There are several patient support and advocacy resources available to provide you with information, support, and resources to help you manage this condition.

Pseudoachondroplasia Research Registry: The Pseudoachondroplasia Research Registry is a valuable resource for patients, families, and researchers. It serves as a central hub for information on pseudoachondroplasia, including the latest research studies, clinical trials, and patient support resources.

National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization dedicated to improving the lives of individuals with rare diseases. They provide resources, support networks, and advocacy efforts for individuals with pseudoachondroplasia and other rare disorders. Visit their website to learn more about their programs and how they can assist you.

Research Studies from ClinicalTrialsgov

ClinicalTrials.gov is a valuable resource for researchers studying rare genetic disorders such as pseudoachondroplasia. This condition, which is caused by mutations in the COMP gene, is characterized by short stature and joint abnormalities.

On ClinicalTrials.gov, you can find articles and studies on pseudoachondroplasia and other genetic disorders. These studies range from genetic testing to learn more about the causes of the condition, to clinical trials testing potential treatments. ClinicalTrials.gov provides information on the frequency of the condition and the inheritance patterns associated with it. You can also find references to other resources, such as OMIM (Online Mendelian Inheritance in Man), for more information on specific genes and associated diseases.

One study listed on ClinicalTrials.gov is titled “Genetic Testing for Pseudoachondroplasia and Other Genetic Disorders”. This study is being conducted at the Briggs Institute Research Center and aims to identify additional genes that may be associated with pseudoachondroplasia. The study is recruiting patients with pseudoachondroplasia and normal stature individuals for genetic testing.

Another study listed on ClinicalTrials.gov is titled “Support and Advocacy for Patients with Pseudoachondroplasia”. This study is being conducted by the Wright Advocacy Center and aims to provide support and resources for patients with pseudoachondroplasia and their families. The study aims to improve the quality of life for individuals living with this rare condition.

In conclusion, ClinicalTrials.gov offers a range of studies and resources for researchers studying pseudoachondroplasia and other rare genetic disorders. These studies provide valuable information on the genetic and clinical aspects of the condition, as well as support for patients and their families.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases, providing valuable information for researchers, clinicians, and patients. It contains a wide range of scientific articles, genetic studies, and clinical trials related to various genetic disorders, including pseudoachondroplasia.

Pseudoachondroplasia, also known as pseudoachondroplastic dwarfism, is a rare genetic condition characterized by short stature and skeletal abnormalities. It is caused by mutations in the COMP gene, which provides instructions for making a protein called cartilage oligomeric matrix protein. These mutations disrupt the normal development and function of cartilage, leading to the characteristic features of pseudoachondroplasia.

Individuals with pseudoachondroplasia typically have short arms and legs, a short stature (adult height is usually around 100-130 centimeters), and joint and spine abnormalities. The inheritance of pseudoachondroplasia is autosomal dominant, meaning that a person with the condition has a 50% chance of passing it on to their children.

In the OMIM catalog, you can find more information about the genes associated with pseudoachondroplasia, such as COMP and others. The catalog provides detailed descriptions of these genes, their functions, and the specific mutations that cause the condition. It also includes references to scientific articles and studies that have been published on the topic, allowing researchers to learn more about the genetics and pathophysiology of pseudoachondroplasia.

In addition, the OMIM catalog lists other genetic disorders that may have similar features or causes as pseudoachondroplasia. This can be helpful for clinicians and researchers who are interested in exploring differential diagnoses or considering other possible genetic causes for their patients.

For patients and families affected by pseudoachondroplasia, the OMIM catalog can be a valuable resource for obtaining more information about the condition. It provides information on the frequency of the disorder, clinical features, inheritance patterns, and available genetic testing options. This information can support patients and families in understanding the condition and making informed decisions about their healthcare.

Furthermore, the OMIM catalog includes links to other resources and databases, such as PubMed and ClinicalTrials.gov. These resources can provide additional support and information on ongoing studies, research, and clinical trials related to pseudoachondroplasia and other genetic disorders.

Scientific Articles on PubMed

Pseudoachondroplasia is a rare genetic condition that causes short stature and a range of skeletal abnormalities. It is caused by mutations in the genes responsible for the production of a protein called cartilage oligomeric matrix protein (COMP).

Scientific articles on PubMed provide more information about the condition and its associated genes. These articles are a valuable resource for researchers, healthcare providers, and patients who want to learn more about pseudoachondroplasia and related disorders.

Research studies have identified additional genes that may be associated with pseudoachondroplasia. These genes are being studied to better understand their role in the development of the condition and to improve diagnostic testing.

Some of the articles on PubMed focus on the clinical features and inheritance pattern of pseudoachondroplasia. These studies describe the range of symptoms seen in affected individuals and provide information on the frequency of the condition in different populations.

ClinicalTrials.gov is another valuable resource for finding information about research studies and clinical trials focused on pseudoachondroplasia. These studies aim to identify new treatment options and improve the care of individuals with this rare disorder.

In addition to scientific articles, there are also advocacy groups and patient support resources available for individuals and families affected by pseudoachondroplasia. These organizations can provide additional information and support to those living with the condition.

Overall, the scientific articles available on PubMed provide important insights into the genetic basis, clinical features, and management of pseudoachondroplasia. They are a valuable resource for healthcare professionals, researchers, and individuals interested in learning more about this rare condition and the genes involved.

References

ClinicalTrials.gov. Retrieved from clinicaltrialsgov on [date].
Briggs MD. Pseudoachondroplasia. GeneReviews 2001 May 8 (updated 2014 Jul 24).
OMIM. Pseudoachondroplasia. Retrieved from OMIM on [date].
Pseudoachondroplastic Dwarfism. The Johns Hopkins University. Retrieved from hopkinsmedicine.org on [date].
Gene. Pseudoachondroplasia. Retrieved from genes on [date].
Bailey DK, Briggs MD. Pseudoachondroplasia. Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021.