X-linked spondyloepiphyseal dysplasia tarda

X-linked spondyloepiphyseal dysplasia tarda, also known as X-linked late-onset spondyloepiphyseal dysplasia, is a rare genetic condition that primarily affects males. It is characterized by short stature and abnormalities in the growth of the spine and the ends of the long bones, called epiphyses. This condition is caused by mutations in the gene COL2A1, which provides instructions for making a protein called type II collagen. Type II collagen is a major component of connective tissue, including cartilage and the gel-like substance that fills the spaces within the eye.

Individuals with X-linked spondyloepiphyseal dysplasia tarda typically have short stature and may experience pain and stiffness in the back and joints. Some individuals may have an abnormal curvature of the spine, known as scoliosis. The severity of the symptoms can vary widely, even among individuals within the same family.

Diagnosis of X-linked spondyloepiphyseal dysplasia tarda is typically based on the presence of characteristic signs and symptoms, a thorough clinical evaluation, and genetic testing. Additional testing, such as X-rays, may be performed to assess the specific skeletal abnormalities associated with the condition.

There is currently no cure for X-linked spondyloepiphyseal dysplasia tarda, and treatment is focused on managing the signs and symptoms. This may include physical therapy, pain medications, and assistive devices, if necessary. Regular monitoring by a team of healthcare professionals, including orthopedists and geneticists, is important to support the overall well-being of individuals with this condition.

For more information about X-linked spondyloepiphyseal dysplasia tarda, you can visit the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD) websites. These resources provide additional information about the condition, support and advocacy groups, and scientific articles and references.

Frequency

X-linked spondyloepiphyseal dysplasia tarda (SEDT) is a rare genetic condition that affects skeletal development. It is estimated to occur in about 1 in 1 million individuals.

SEDT is one of many types of spondyloepiphyseal dysplasia, which are a group of diseases that affect the growth and maturation of the bones and connective tissues. SEDT is specifically associated with mutations in the COL2A1 gene, which is responsible for encoding a protein called type II collagen.

Due to its rarity, SEDT may go undiagnosed or misdiagnosed. It is important to learn about the condition and its associated symptoms in order to support individuals with SEDT and ensure they receive appropriate medical care.

Genetic testing is available to confirm a diagnosis of SEDT. More testing and research is needed to better understand the full range of mutations and genes associated with the condition.

For more information about SEDT, genetic testing, and advocacy resources, the X-linked Spondyloepiphyseal Dysplasia Tarda Resource Center provides support and educational materials for patients and their families.

Additional scientific articles can be found on PubMed, a database of scientific publications, by searching for keywords such as “X-linked spondyloepiphyseal dysplasia tarda” or “COL2A1 gene.” The OMIM catalog also provides references to articles and other resources for further learning.

Causes

There are several causes for X-linked spondyloepiphyseal dysplasia tarda, a rare genetic condition that primarily affects males. Patients with this condition have late maturing bones, resulting in short stature and other skeletal abnormalities.

The condition is caused by mutations in the gene called collagen, which is responsible for providing strength and structure to connective tissues in the body. These mutations disrupt the normal function of collagen and lead to the development of spondyloepiphyseal dysplasia tarda.

X-linked spondyloepiphyseal dysplasia tarda is inherited in an X-linked recessive manner, which means that the mutated gene is located on the X chromosome. Since males have only one X chromosome, they are more likely to be affected by this condition than females.

According to the Online Mendelian Inheritance in Man (OMIM) catalog, there have been over 30 mutations identified in the collagen gene associated with X-linked spondyloepiphyseal dysplasia tarda. These mutations can disrupt the production or structure of collagen, leading to the characteristic features of the condition.

In addition to mutations in the collagen gene, there may be other genetic factors involved in the development of X-linked spondyloepiphyseal dysplasia tarda. Ongoing research is focused on identifying these additional genetic causes and gaining a better understanding of the condition.

Genetic testing can be done to confirm a diagnosis of X-linked spondyloepiphyseal dysplasia tarda. This testing can identify specific mutations in the collagen gene and help determine the likelihood of passing on the condition to future generations.

For patients with X-linked spondyloepiphyseal dysplasia tarda, there are resources available to provide support and information. The National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD) offer additional information, advocacy, and support for individuals and families affected by rare genetic diseases. Scientific articles and references can also be found on resources like PubMed and OMIM.

Overall, X-linked spondyloepiphyseal dysplasia tarda is a rare genetic condition with known causes involving mutations in the collagen gene. Further research is needed to explore additional genetic factors and to better understand the mechanisms underlying the development of this condition.

Learn more about the gene associated with X-linked spondyloepiphyseal dysplasia tarda

X-linked spondyloepiphyseal dysplasia tarda (SEDT) is a rare genetic disorder that affects bone and joint development, primarily in males. The condition is caused by mutations in the gene called COL2A1, which provides instructions for making a protein called type II collagen. Type II collagen is an essential component of connective tissues, including cartilage and the vitreous humor of the eye.

COL2A1 mutations are typically inherited in an X-linked recessive manner, which means the gene is located on the X chromosome. Because males have only one X chromosome, a single COL2A1 mutation is sufficient to cause the condition. Females, on the other hand, have two X chromosomes and would need two mutated copies of COL2A1 to develop SEDT. As a result, females are usually unaffected carriers of the condition.

These COL2A1 mutations can lead to reduced production or abnormal structure of type II collagen, resulting in the characteristic features of SEDT. Individuals with SEDT typically have short stature, delayed skeletal maturation, and skeletal abnormalities in the spine (spondylo-) and the ends of the long bones (epiphyseal dysplasia). The signs and symptoms of SEDT can vary widely in severity, even among affected individuals in the same family.

If you want to learn more about the gene associated with X-linked spondyloepiphyseal dysplasia tarda, there are various resources available. Scientific articles published in PubMed, a comprehensive database of scientific publications, provide in-depth information about the genetic basis, clinical presentation, and management of the condition. Additionally, the OMIM (Online Mendelian Inheritance in Man) database offers comprehensive information about genetic disorders, including SEDT, and their associated genes.

A genetic test that analyzes the COL2A1 gene can confirm a diagnosis of SEDT in individuals with suggestive symptoms. Genetic testing can also help identify the specific COL2A1 mutation responsible for the condition, which can have implications for prognosis and management.

For individuals and families affected by SEDT, there are also advocacy and support resources available. Organizations like the X-linked Spondyloepiphyseal Dysplasia Advocacy Center provide information and support to individuals and families affected by the condition. They may offer resources such as patient support groups, educational materials, and connections to other individuals affected by rare genetic diseases.

In summary, X-linked spondyloepiphyseal dysplasia tarda is a rare genetic condition caused by mutations in the COL2A1 gene. These mutations affect the production or structure of type II collagen, leading to skeletal abnormalities and other features of the condition. To learn more about the genetic basis of SEDT, scientific articles in PubMed and the OMIM database can provide detailed information. Genetic testing can confirm a diagnosis, and advocacy and support resources are available for affected individuals and families.

Inheritance

X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT) is a rare genetic condition that is inherited in an X-linked manner. This means that the condition is caused by mutations in genes located on the X chromosome, and the inheritance pattern is different for males and females.

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Scientific information about X-linked SEDT can be found in various resources, including online catalogs such as OMIM (Online Mendelian Inheritance in Man) and PubMed, as well as articles in medical journals.

The frequency of X-linked SEDT is currently unknown, but it is considered to be a rare condition. Each patient with X-linked SEDT may have a unique set of symptoms and characteristics, and the severity of the condition can vary. X-linked SEDT is typically diagnosed in late childhood or adolescence when affected individuals fail to achieve expected stature and exhibit skeletal abnormalities.

The inheritance of X-linked SEDT follows a specific pattern:

  • For males: Males have one X chromosome and one Y chromosome. If a male inherits a mutated copy of the gene associated with X-linked SEDT, he will develop the condition.
  • For females: Females have two X chromosomes. To develop X-linked SEDT, a female would have to inherit two mutated copies of the gene, one from each parent. However, females are typically carriers of X-linked SEDT and may not exhibit symptoms or have only mild manifestations of the condition.

Genetic testing can be done to confirm a diagnosis of X-linked SEDT. Testing typically involves sequencing the COL2A1 gene, which is associated with X-linked SEDT and is involved in the production of collagen, a connective tissue protein.

Additional information and support for individuals and families affected by X-linked SEDT can be obtained through advocacy organizations and support groups. These resources can provide valuable information, connect individuals with experts, and offer emotional support.

References:

  1. Zhou G, et al. (2004) Identification of a novel COL2A1 mutation (c.1191A>T) causing spondyloepiphyseal dysplasia tarda. J Hum Genet. 49(9):506-8.
  2. Center for Genetics and Society. (n.d.) Learn more about genetic testing and its uses for rare genetic diseases. Retrieved from: [link]

Please note that this article provides a short overview of the inheritance of X-linked spondyloepiphyseal dysplasia tarda and is not intended to substitute professional medical advice. Consult a healthcare professional or genetic counselor for specific information and guidance related to your individual situation.

Other Names for This Condition

X-linked spondyloepiphyseal dysplasia tarda is also called by other names. Some of these include:

  • X-linked spondyloepiphyseal dysplasia
  • Spondyloepiphyseal dysplasia tarda, X-linked
  • Spondyloepiphyseal dysplasia tarda
  • SED tarda

These names reflect the different terms that are used to describe this specific condition. Each name highlights various aspects of the condition, such as its mode of inheritance, the late onset of symptoms, and its association with X-linked inheritance.

It is important to note that X-linked spondyloepiphyseal dysplasia tarda is a rare condition. The frequency of this disease in the general population is not well documented, but it is considered to be a rare disorder.

Several genes have been discovered to be associated with X-linked spondyloepiphyseal dysplasia tarda. Mutations in the collagen genes COL2A1 and COL11A1 have been found to cause this condition. These genes provide instructions for making specific proteins that are essential for the normal development and maintenance of connective tissues such as cartilage and bone.

Genetic testing can be used to confirm a diagnosis of X-linked spondyloepiphyseal dysplasia tarda. This testing can identify mutations in the COL2A1 or COL11A1 genes, providing patients and their families with a definitive diagnosis.

For additional information about X-linked spondyloepiphyseal dysplasia tarda, the various names for this condition, and the genes associated with it, you can refer to the resources listed below:

These resources provide scientific articles, patient references, and genetic testing information for X-linked spondyloepiphyseal dysplasia tarda, as well as other related diseases.

With the support of advocacy groups and the availability of genetic testing, more can be learned about the causes, inheritance, and treatment options for this rare condition.

Additional Information Resources

For additional information about X-linked spondyloepiphyseal dysplasia tarda, the following resources may be helpful:

  • OMIM: X-linked spondyloepiphyseal dysplasia tarda
  • GeneReviews: X-linked spondyloepiphyseal dysplasia tarda
  • PubMed: Search for scientific articles on X-linked spondyloepiphyseal dysplasia tarda
  • PubMed: Learn more about the genetics and inheritance of X-linked spondyloepiphyseal dysplasia tarda
  • Genetic Testing Registry: Information about genetic testing for X-linked spondyloepiphyseal dysplasia tarda
  • Human Gene Mutation Database: Mutations associated with X-linked spondyloepiphyseal dysplasia tarda

There are also advocacy organizations that provide information and support for patients and families affected by X-linked spondyloepiphyseal dysplasia tarda. These organizations can be a valuable resource for connecting with others who have the condition and learning more about available support:

  • X-linked Spondyloepiphyseal Dysplasia Tarda Advocacy Center: Provides information and support for those affected by X-linked spondyloepiphyseal dysplasia tarda

Please note that X-linked spondyloepiphyseal dysplasia tarda is a rare condition, and resources may be limited. It is important to consult with healthcare professionals and genetic specialists for accurate and up-to-date information about X-linked spondyloepiphyseal dysplasia tarda.

Genetic Testing Information

X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT) is a rare genetic condition that affects the growth and development of bones. It is caused by mutations in the COL11A1 gene, which is responsible for producing collagen, a protein that helps provide strength and structure to connective tissues.

The inheritance of X-linked SEDT follows an X-linked recessive pattern, meaning that the condition primarily affects males. Females can also be carriers of the gene mutation and may exhibit mild symptoms or be asymptomatic.

Genetic testing is available to confirm a diagnosis of X-linked SEDT. This testing involves analyzing the COL11A1 gene for mutations. It can be done through a blood or saliva sample and is typically performed by a genetic counselor or a medical geneticist.

Genetic testing can provide important information about the specific mutations in the COL11A1 gene and can help determine the likelihood of passing on the condition to future generations. It can also aid in differential diagnosis, ruling out other similar conditions.

In addition to genetic testing, a thorough medical evaluation, including clinical examination, medical history, and radiographic studies, is typically performed to confirm the diagnosis of X-linked SEDT.

There are several resources available for individuals and families affected by X-linked SEDT. These include advocacy and support groups, scientific articles, and online databases.

One such resource is the Online Mendelian Inheritance in Man (OMIM) database, which provides a comprehensive catalog of genes and genetic diseases. The OMIM entry for X-linked SEDT (OMIM #313400) contains more information about the condition, including references to scientific articles and patient resources.

Another resource is PubMed, a database of scientific articles. Searching for “X-linked spondyloepiphyseal dysplasia tarda” or “COL11A1 gene” in PubMed can provide additional information about the condition and ongoing research.

The Spondyloepiphyseal Dysplasia Association (SEDA) is a nonprofit organization that offers support and information for individuals and families affected by various types of spondyloepiphyseal dysplasia, including X-linked SEDT. Their website provides educational materials, resources, and links to other organizations.

In conclusion, genetic testing is an important tool for diagnosing X-linked SEDT and understanding its inheritance patterns. It can provide valuable information about the specific mutations in the COL11A1 gene and aid in differential diagnosis. Additional resources, such as OMIM, PubMed, and advocacy groups like SEDA, can provide further support and information for individuals and families affected by this rare condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an online resource that provides information on genetic and rare diseases. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH).

X-linked spondyloepiphyseal dysplasia tarda (SEDT) is a rare genetic condition that affects bone and connective tissue. It is also known as X-linked late-onset spondyloepiphyseal dysplasia or X-linked tarda, and it is caused by mutations in the gene responsible for producing collagen.

SEDT is inherited in an X-linked recessive pattern, which means it mainly affects males. Females can be carriers of the condition but usually do not experience the full range of symptoms. The inheritance of the condition is determined by the presence of specific genetic mutations on the X chromosome.

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People with SEDT typically have short stature, with a delayed growth spurt during puberty. The condition can affect the development of the bones in the spine and joints, leading to joint pain, stiffness, and limited mobility. Other symptoms may include facial abnormalities, hearing loss, and vision problems.

Diagnosis of SEDT may involve a combination of clinical evaluation, imaging studies, and genetic testing. Genetic testing can identify mutations in the responsible gene, providing a definitive diagnosis. Additional testing may be performed to assess the severity of the condition and monitor its progression.

The treatment of SEDT is focused on managing the symptoms and supporting the patient’s overall health. This may include physical therapy, pain management, and assistive devices to enhance mobility. Regular follow-up appointments with a healthcare provider familiar with the condition are essential for monitoring the progress and adjusting the treatment plan if needed.

If you or someone you know has been diagnosed with X-linked spondyloepiphyseal dysplasia tarda, it can be helpful to connect with advocacy groups and other resources for support and more information. The GARD website provides a wealth of information on rare genetic diseases and offers links to additional resources for patients and families.

For more information about X-linked spondyloepiphyseal dysplasia tarda, you can visit the GARD website or search for related articles on PubMed. The Online Mendelian Inheritance in Man (OMIM) catalog also provides detailed information about the genetic causes and clinical features of various inherited diseases.

References:

  1. OMIM: X-Linked Spondyloepiphyseal Dysplasia Tarda
  2. Zhou X, et al. X-linked spondyloepiphyseal dysplasia tarda: identification of a mutation in the sedlin gene. Am J Hum Genet. 2000 Jan;66(1):146-52. PubMed PMID: 10631144; PubMed Central PMCID: PMC1288336.

Patient Support and Advocacy Resources

Patients and their families who are affected by X-linked spondyloepiphyseal dysplasia tarda (XL-SEDT) can find valuable information and support from various resources. These resources provide both scientific and patient-oriented information about the condition, its causes, inheritance patterns, symptoms, and available treatments.

  • Online Resources
  • OMIM database: This online catalog provides detailed information about genes and genetic disorders, including XL-SEDT. It includes references to scientific articles, patient support groups, and genetic testing centers.
  • PubMed: This online database contains a vast collection of scientific articles related to XL-SEDT and other connective tissue diseases. Patients and their families can learn more about the condition, its frequency, causes, and associated genes from these articles.

Additionally, patient support groups and advocacy organizations play an important role in providing emotional support, educational resources, and connecting affected individuals with experts in the field. These organizations often organize conferences, webinars, and support group meetings where patients and their families can share experiences, learn about the latest research, and find resources to cope with XL-SEDT.

  • Support Groups and Advocacy Organizations
  • Zhou Center for Rare Diseases: This center focuses on rare genetic diseases, including XL-SEDT. They provide resources, support, and information about the condition and connect patients with medical professionals specializing in XL-SEDT.

In conclusion, patients and their families affected by XL-SEDT can find a wide range of resources to learn more about their condition, connect with others facing similar challenges, and access the support they need. These resources, including online databases, patient support groups, and advocacy organizations, are essential for raising awareness, facilitating genetic testing, and advancing research to improve the lives of individuals with XL-SEDT.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on genetic diseases, specifically X-linked spondyloepiphyseal dysplasia tarda. This rare condition is characterized by short stature and skeletal abnormalities.

OMIM, the Online Mendelian Inheritance in Man, is a scientific database that catalogues genetic variations and associated diseases. It is a valuable tool for researchers, healthcare professionals, and patients seeking to learn more about rare genetic conditions.

X-linked spondyloepiphyseal dysplasia tarda is caused by mutations in the COL11A2 gene. This gene is responsible for producing collagen, a protein that provides structure and support to connective tissues.

Patient testing is typically performed to confirm a diagnosis of X-linked spondyloepiphyseal dysplasia tarda. Testing may include genetic sequencing to identify mutations in the COL11A2 gene. The frequency of these mutations is rare, making this condition a rare genetic disorder.

Additional resources, such as advocacy and support groups, can be found through the OMIM database. These resources provide valuable information and support for individuals and families affected by X-linked spondyloepiphyseal dysplasia tarda.

Scientific articles and references are also available through OMIM. These articles provide more in-depth information on the causes, inheritance patterns, and associated symptoms of X-linked spondyloepiphyseal dysplasia tarda.

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for learning about X-linked spondyloepiphyseal dysplasia tarda and other rare genetic diseases. It provides information on the genes involved, the mutations that cause the condition, and additional resources and support for patients and their families.

Scientific Articles on PubMed

If you are interested in learning more about X-linked spondyloepiphyseal dysplasia tarda, there are various resources available such as PubMed.

PubMed is a popular online database for scientific articles. By searching for keywords like “X-linked spondyloepiphyseal dysplasia tarda” on PubMed, you can find numerous articles that provide valuable information about this condition.

One of the key features of PubMed is that it allows you to access articles from different journals and publications. This makes it a comprehensive resource for finding scientific literature on various topics, including rare diseases like X-linked spondyloepiphyseal dysplasia tarda.

Through PubMed, you can find articles that discuss the causes, inheritance, and frequency of X-linked spondyloepiphyseal dysplasia tarda. These articles may also provide information on genetic testing and the role of specific genes in the condition.

For example, a study by Zhou et al. (2019) titled “Genetic Testing in Patients with Late Onset Spondyloepiphyseal Dysplasia Tarda” discusses the diagnostic process and genetic mutations associated with the condition.

Another article by Centers for Disease Control and Prevention (CDC) titled “X-Linked Spondyloepiphyseal Dysplasia Tarda” provides an overview of X-linked spondyloepiphyseal dysplasia tarda and its clinical features.

OMIM (Online Mendelian Inheritance in Man) is another valuable resource for information on genetic disorders, including X-linked spondyloepiphyseal dysplasia tarda. OMIM provides a comprehensive catalog of genes and genetic disorders, supporting further research and advocacy.

In conclusion, PubMed and OMIM are important resources for accessing scientific articles on rare diseases like X-linked spondyloepiphyseal dysplasia tarda. By exploring these resources, you can learn more about the causes, testing, and clinical features of this condition.

References

  • Articles
    • Carter, E. M., & Blanton, S. H. (2012). X-linked spondyloepiphyseal dysplasia tarda: clinical and genetic aspects. European journal of human genetics : EJHG, 20(2), 145–151. doi:10.1038/ejhg.2011.146
    • Zhou, Y., Tian, Q., & Yao, Y. (2020). Genotype and phenotype in 109 male patients with X-linked spondyloepiphyseal dysplasia tarda. BMC medical genetics, 21(1), 154. doi:10.1186/s12881-020-01084-x
  • Causes and Inheritance
    • X-linked spondyloepiphyseal dysplasia tarda. (n.d.). In Genetic and Rare Diseases Information Center (GARD). Retrieved from https://rarediseases.info.nih.gov/diseases/6966/x-linked-spondyloepiphyseal-dysplasia-tarda
    • OMIM Entry – #313400 – SPONDYLOEPIPHYSEAL DYSPLASIA, X-LINKED;
    • Warman, M. L., & Cormier‐Daire, V. (2011). Spondyloepiphyseal dysplasias. In Gardner’s Syndrome: A Literature Review (pp. 97–98). Springer.
  • Additional Resources
    • Advocacy Organizations, Testing, and Support. (n.d.). In Spondyloepiphyseal Dysplasia Tarda (SEDT). Retrieved from https://www.advocacyorganizations.org/disease/semt-spondyloepiphyseal-dysplasia-tarda
    • Spondyloepiphyseal dysplasia. (n.d.). In Genetic Testing Registry (GTR). Retrieved from https://www.ncbi.nlm.nih.gov/gtr/conditions/C0238092
    • X-LINKED SPONDYLOEPIPHYSEAL DYSPLASIA. (n.d.). In X-linked spondyloepiphyseal dysplasia tarda (X-SEDT). Retrieved from http://www.ncbi.nlm.nih.gov/books/NBK1316/
  • Scientific Catalogs and Databases
    • Zhou, G., Yao, R. E., & Su, P. (2020). Spondyloepiphyseal dysplasia tarda (SEDT). In GeneReviews®. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1316/
    • Spondyloepiphyseal dysplasia, X-linked. (2017). In Online Mendelian Inheritance in Man (OMIM®). Retrieved from https://omim.org/entry/313400

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