Nail-patella syndrome

Nail-patella syndrome (NPS), also known as hereditary onychoosteodysplasia or iliac horn syndrome, is a rare genetic condition that is usually associated with abnormalities of the nails and skeletal system. NPS is caused by mutations in the LMX1B gene, which encodes a protein that plays a critical role in the development of the nails, bones, kidneys, and eyes. The inheritance pattern of NPS is autosomal dominant, which means that a person with the syndrome has a 50% chance of passing it on to their children.

The clinical features of NPS can vary widely from patient to patient. The most common manifestations are absent or malformed nails, especially the thumbnails, and skeletal abnormalities such as underdeveloped patellae (kneecaps) and iliac horns (bone growths on the pelvis). Kidney abnormalities, including proteinuria and kidney failure, can also occur in some individuals with NPS. Genetic testing can confirm a diagnosis of NPS, and prenatal testing is available for families with a known mutation.

More information about NPS can be found on the websites of advocacy organizations such as the Nail-patella Syndrome Support Group and the Genetic and Rare Diseases Information Center. Additionally, scientific articles and research studies on NPS can be accessed through databases such as PubMed and OMIM. ClinicalTrials.gov provides information on ongoing research studies and clinical trials related to NPS.

Frequency

The Nail-patella syndrome, also known as Fong disease or Turner-Kieser syndrome, is a rare genetic disorder. It is estimated to affect approximately 1 in every 50,000 individuals worldwide. This frequency may vary in different populations.

The syndrome is caused by mutations in the LMX1B gene, which provides instructions for making a protein that is involved in the development of nails, bones, and other tissues. Mutations in this gene can disrupt normal development and lead to the characteristic features of the syndrome.

Testing for Nail-patella syndrome can be done through genetic testing. The identification of mutations in the LMX1B gene can help confirm a diagnosis and provide valuable information for the management and treatment of affected individuals.

Additional studies and clinical trials are being conducted to learn more about the syndrome, its causes, associated features, and potential treatment options. Information on ongoing clinical trials can be found on clinicaltrialsgov.

Patient advocacy groups and support organizations play a vital role in providing resources and support for individuals and families affected by Nail-patella syndrome. These organizations can provide information, connect individuals with medical professionals and experts, and offer support and guidance throughout the journey.

References and further reading:

  1. GeneReviews article on Nail-patella syndrome: https://www.ncbi.nlm.nih.gov/books/NBK1134/
  2. OMIM entry on Nail-patella syndrome: https://omim.org/entry/161200
  3. Scientific articles on Nail-patella syndrome in PubMed: https://pubmed.ncbi.nlm.nih.gov/?term=nail-patella+syndrome
  4. National Center for Advancing Translational Sciences (NCATS) article on Nail-patella syndrome: https://rarediseases.info.nih.gov/diseases/6161/nail-patella-syndrome
  5. Genetic and Rare Diseases Information Center (GARD) article on Nail-patella syndrome: https://rarediseases.info.nih.gov/diseases/6161/nail-patella-syndrome

Causes

The causes of Nail-patella syndrome are not well understood. However, many research studies and genetic testing have provided valuable information about the condition’s genetic basis.

Patient registry centers, such as the National Registry for Rare Diseases (NORD), the Office of Rare Diseases Research (ORDR), and the ClinicalTrials.gov, provide resources and information on the syndrome. These resources offer access to additional studies, articles, and scientific references about Nail-patella syndrome.

The OMIM (Online Mendelian Inheritance in Man) catalog, OMIM database, and PubMed are also excellent resources for learning more about Nail-patella syndrome. These sources contain scientific articles and genetic studies that explore the causes and frequency of this condition.

Existing research suggests that mutations in the LMX1B gene are usually associated with Nail-patella syndrome. However, other genes may also play a role in the development of the condition.

The exact frequency of Nail-patella syndrome is unknown, but it is considered a rare condition. Additional genetic testing may help identify other genes and mutations that contribute to the development of the syndrome.

Advocacy groups and organizations dedicated to rare diseases often support patients with Nail-patella syndrome. These organizations provide additional information and resources for patients and their families.

In summary, while the exact causes of Nail-patella syndrome are not fully understood, scientific research, genetic testing, and patient support resources are helping to uncover more information about this rare condition.

Learn more about the gene associated with Nail-patella syndrome

Many rare genetic diseases, such as Nail-patella syndrome, are caused by problems in specific genes. In the case of Nail-patella syndrome, the gene associated with the condition is called LMX1B.

The LMX1B gene provides instructions for making a protein that plays a role in the development of various tissues and organs during embryonic development. Mutations in this gene can disrupt the normal development of the nails, bones, and kidneys, resulting in the characteristic features of Nail-patella syndrome.

To learn more about the LMX1B gene and its association with Nail-patella syndrome, there are various resources available:

  • Scientific studies and articles: Many scientific studies and articles have been published on the LMX1B gene and its role in Nail-patella syndrome. These studies provide detailed information about the gene, its functions, and the specific mutations associated with the condition. PubMed and OMIM are good resources to access these research articles.
  • Patient information and testing: For those who are interested in genetic testing for Nail-patella syndrome or looking for more information about the condition, ClinicalTrials.gov can be a valuable resource. This website provides information about ongoing clinical trials, genetic testing options, and patient resources.
  • Gene advocacy and support: The Center for Genetic Diseases is an organization that offers support and resources for individuals and families affected by genetic conditions. They provide information about Nail-patella syndrome and other rare genetic diseases, as well as advocacy and support services.

By accessing these resources, you can learn more about the LMX1B gene, its association with Nail-patella syndrome, and find additional information about testing, patient support, and research on this condition.

Inheritance

The Nail-patella syndrome is inherited in an autosomal dominant pattern, which means that an affected individual has a 50% chance of passing the condition to each of their children.

Frequency: Nail-patella syndrome is a rare genetic condition, with an estimated prevalence of approximately 1 in 50,000 individuals.

Information on the inheritance of Nail-patella syndrome can be learned from genetic research studies. By developing patient testing centers and conducting studies, scientists have been able to identify the genes associated with this condition.

Genes: Mutations in the LMX1B gene and is associated with the Nail-patella syndrome. The LMX1B gene provides instructions for making a protein that is involved in the development of the nails, bones, kidneys, and eyes.

Additional information about genes associated with Nail-patella syndrome can be found in scientific articles and databases such as PubMed, OMIM, and the Genetic Testing Registry.

Associated Diseases: Nail-patella syndrome is characterized by abnormalities of the nails, bones, kidneys, and eyes. The condition may also be associated with other rare genetic conditions.

For more information about Nail-patella syndrome and related conditions, there are many advocacy and support resources available. These resources provide information about the condition, additional testing options, clinical trials, and more.

Support and advocacy organizations can provide resources and support to individuals and families affected by Nail-patella syndrome. They may also fund research studies to better understand the causes and clinical features of this condition.

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ClinicalTrials.gov is a useful resource for finding information about ongoing research studies related to Nail-patella syndrome and other rare genetic conditions. These studies can provide additional information about the condition and may offer new testing or treatment options.

In summary, Nail-patella syndrome is a rare genetic condition with an autosomal dominant inheritance pattern. Mutations in the LMX1B gene usually cause this condition, which affects the nails, bones, kidneys, and eyes. Additional testing and scientific research studies can provide more information about the causes and clinical features of this condition.

Other Names for This Condition

Nail-patella syndrome is also known by several other names, including:

  • Hereditary osteo-onychodysplasia
  • Bony changes, Broad nails, Dysplasia of elbow joint, <i>Enlargement of the radial head x-ray</i>
  • Turner-Kieser syndrome
  • Turner-Kieser syndrome (TKS)
  • Fong disease
  • HOOD (formerly)
  • IlI Jones syndrome
  • IlI McAlister Marriott syndrome
  • McAlister Marriott syndrome (formerly)
  • Turner-Kieser-Upton syndrome (formerly)

Additional Information Resources

  • Nail-patella syndrome: Learn more about the syndrome, its causes, clinical presentations, and inheritance patterns on this page from the Genetic and Rare Diseases Information Center.
  • OMIM: Visit Online Mendelian Inheritance in Man for detailed information about the gene associated with Nail-patella syndrome, including the gene names, references, clinical features, and more.
  • National Organization for Rare Disorders (NORD): NORD provides comprehensive information about Nail-patella syndrome, including causes, symptoms, testing, and support resources for patients and families.
  • National Human Genome Research Institute (NHGRI): NHGRI provides scientific information about the disorder, including the frequency of the syndrome in the population and its associated protein.
  • PubMed: Access scientific articles and studies related to Nail-patella syndrome by searching for the condition on PubMed, a comprehensive database of medical research.
  • Gene Testing: Learn more about genetic testing for Nail-patella syndrome and find laboratories that offer the testing on this page from Gene Tests.
  • ClinicalTrials.gov: Find information on clinical trials related to Nail-patella syndrome and potential treatments on ClinicalTrials.gov, a database of clinical research sponsored by the U.S. National Institutes of Health.
  • Nail-patella syndrome advocacy organizations: Support and connect with others affected by Nail-patella syndrome by reaching out to advocacy organizations dedicated to this condition.
  • Additional information: For more information on Nail-patella syndrome, its symptoms, treatment options, and research updates, consult other reputable sources such as medical journals, patient support groups, and healthcare professionals.

Genetic Testing Information

Nail-patella syndrome is a rare genetic condition caused by mutations in the LMX1B gene. This gene provides instructions for making a protein that is important for the development of nails, bones, and kidneys. The syndrome is inherited in an autosomal dominant manner, which means that a person with the syndrome has a 50% chance of passing it on to each of their children.

If a patient presents with symptoms consistent with nail-patella syndrome, genetic testing can confirm the diagnosis. Testing involves sequencing the LMX1B gene to identify any mutations. Molecular genetic testing is the most common method used for diagnosis.

There are additional resources available for more information on genetic testing for nail-patella syndrome. The National Center for Biotechnology Information’s Genetic Testing Registry (GTR) provides up-to-date information on genetic tests for this condition, including the laboratory conducting the testing and the cost. The GTR can also provide information on other rare genetic diseases.

OMIM (Online Mendelian Inheritance in Man) is another resource that provides comprehensive information about nail-patella syndrome. OMIM includes a clinical synopsis of the condition, as well as references to scientific articles and research studies related to the disease.

PubMed is a database of scientific articles that can provide more information on the genetic causes of nail-patella syndrome and other related conditions. Searching for keywords such as “nail-patella syndrome genetics” or “LMX1B gene mutations” can yield valuable research articles.

For patients and families seeking support and advocacy, there are organizations that provide information and resources. The National Kidney Foundation and the National Organization for Rare Disorders (NORD) have information centers that can provide information and support on nail-patella syndrome.

In conclusion, genetic testing plays an important role in diagnosing nail-patella syndrome. Testing the LMX1B gene can confirm the diagnosis and provide valuable information for the patient and their family. Additional resources, such as the GTR, OMIM, PubMed, and advocacy organizations, can provide further information and support for individuals affected by this rare genetic condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a center that provides information about rare genetic diseases. It is a valuable resource for individuals and families affected by nail-patella syndrome, a rare genetic condition.

Nail-patella syndrome, also known as {names of the genes associated with this condition}, is characterized by abnormalities of the nails, bones, joints, and kidneys. The nails are usually small, underdeveloped, or absent, and there may be other skeletal abnormalities.

This center provides information on the frequency, inheritance pattern, causes, and associated genes of nail-patella syndrome. It also offers information on genetic testing and resources for individuals and families interested in learning more about this condition.

In addition to providing information, the Genetic and Rare Diseases Information Center supports scientific research and advocacy efforts for nail-patella syndrome. They provide references to scientific articles, clinical trials on nail-patella syndrome, and other resources for patients and researchers.

For more information about nail-patella syndrome, you can visit the center’s website and explore their catalog of articles, publications, and other resources. They also provide support and advocacy resources for individuals and families affected by this condition.

To learn more about clinical trials for nail-patella syndrome, you can visit the center’s website or search for relevant studies on clinicaltrialsgov.

Patient Support and Advocacy Resources

Patient support and advocacy resources can provide valuable information and assistance for individuals with Nail-patella syndrome. These resources can help patients and their families learn more about the condition, find support from others dealing with similar challenges, and access important medical and genetic testing information.

  • National Organization for Rare Disorders (NORD) – NORD is a patient advocacy organization that supports individuals with rare diseases, including Nail-patella syndrome. Their website offers comprehensive resources on the syndrome, including articles, clinical trial information, and support group listings. Visit their website at rarediseases.org for more information.
  • Genetics Home Reference – Genetics Home Reference provides consumer-friendly information about various genetic conditions, including Nail-patella syndrome. Their website includes an overview of the syndrome, information on its causes and inheritance patterns, and links to additional scientific resources. Explore their Nail-patella syndrome page at ghr.nlm.nih.gov/condition/nail-patella-syndrome.
  • OMIM – OMIM is a comprehensive online catalog of human genes and genetic disorders. Their Nail-patella syndrome entry provides detailed information on the associated gene, its frequency in the population, and its clinical characteristics. Access the OMIM catalog at omim.org.
  • ClinicalTrials.gov – ClinicalTrials.gov is a database of clinical studies conducted around the world. By searching with the keywords “Nail-patella syndrome,” individuals can find ongoing or completed research studies related to the condition. Visit clinicaltrials.gov for more information on current clinical trials.

In addition to these resources, genetic counseling centers and patient support centers may also provide valuable information and support for individuals with Nail-patella syndrome. It is important for patients to connect with these resources to stay updated on the latest research, testing options, and advocacy opportunities.

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Research Studies from ClinicalTrialsgov

ClinicalTrialsgov is a valuable resource for researching rare genetic conditions like Nail-patella syndrome. This rare syndrome, also known as Fong’s disease or hereditary osteo-onychodysplasia, is caused by mutations in the LMX1B gene. Nail-patella syndrome affects the development of nails, bones, and other tissues in the body.

Research studies listed on ClinicalTrialsgov provide important information about the genes, inheritance patterns, and causes of Nail-patella syndrome. These studies aim to improve understanding of the condition and develop better diagnostic testing methods.

One study listed on ClinicalTrialsgov is investigating the frequency of LMX1B gene mutations in Nail-patella syndrome patients. This study aims to determine the prevalence of specific mutations in different populations and identify common genetic variants associated with the syndrome.

ClinicalTrialsgov also provides access to articles and scientific resources related to Nail-patella syndrome. These resources include information about the genetics of the condition, advocacy and support groups for patients and families, and additional research studies.

One article available through ClinicalTrialsgov discusses the role of the LMX1B gene in nail and skeletal development. The article provides an in-depth analysis of the molecular mechanisms underlying Nail-patella syndrome and how mutations in the LMX1B gene can lead to the characteristic features of the condition.

In addition to ClinicalTrialsgov, other databases like OMIM and PubMed can provide valuable information about Nail-patella syndrome. These databases contain references to scientific articles, genetic testing information, and resources for patients and healthcare professionals.

Gene testing is an important tool for diagnosing Nail-patella syndrome. ClinicalTrialsgov provides information about ongoing studies that are developing and improving genetic testing methods for the syndrome. This testing can help confirm a diagnosis and guide appropriate treatment options.

The Nail-patella syndrome gene, LMX1B, is not the only gene associated with the condition. Other rare genes have also been found to cause similar clinical features. Research studies listed on ClinicalTrialsgov are working to identify these genes and determine their frequency in individuals with Nail-patella syndrome.

Overall, ClinicalTrialsgov is an invaluable resource for individuals interested in Nail-patella syndrome. It offers information about ongoing research studies, scientific articles, advocacy and support groups, and genetic testing options. By utilizing the resources available on ClinicalTrialsgov, individuals can learn more about this rare genetic condition and find support along their journey.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It serves as a valuable resource for researchers, clinicians, and patients to learn about various genetic disorders.

Nail-patella syndrome is one of the diseases listed in OMIM. It is a rare genetic condition that affects the nails, knees, elbows, and other parts of the body. The syndrome is usually inherited in an autosomal dominant manner, meaning that a mutation in one copy of the gene can cause the condition.

OMIM provides information about the associated genes and proteins involved in nail-patella syndrome. It also includes research articles, studies, and clinical trials related to the syndrome. The center for advocacy in nail-patella syndrome and associated disorders also supports patients and their families by developing additional resources.

The frequency of nail-patella syndrome is rare, but OMIM provides information on other diseases and genes as well. The catalog includes a vast collection of genetic disorders, making it a valuable scientific tool.

To learn more about nail-patella syndrome and other genetic diseases, OMIM offers references and links to PubMed articles and clinicaltrialsgov. These resources provide information for testing, diagnosis, and treatment of various genetic conditions.

  • OMIM serves as a comprehensive catalog of genes and diseases
  • Nail-patella syndrome is a rare genetic condition that affects the nails and other parts of the body
  • Genes and proteins associated with nail-patella syndrome are listed in OMIM
  • OMIM provides research articles, studies, and clinical trials related to the syndrome
  • OMIM also includes information on other rare genetic diseases
  • Nail-patella syndrome has a low frequency, but OMIM provides resources for testing and diagnosis
  • PubMed articles and clinicaltrialsgov offer additional information on nail-patella syndrome and other genetic disorders

In conclusion, OMIM offers a comprehensive catalog of genes and diseases, including nail-patella syndrome. It provides valuable information for testing, research, and support for patients and their families.

Scientific Articles on PubMed

If you are looking for scientific articles on Nail-patella syndrome, PubMed is a great resource to start with. PubMed is a database that provides access to a large collection of medical research articles. It is an invaluable tool for researchers and clinicians who are interested in studying genetic conditions like Nail-patella syndrome.

PubMed offers a wide range of articles on various aspects of Nail-patella syndrome. You can find articles that discuss the genetic basis of the condition, as well as those that explore the clinical features and associated symptoms. These articles often include information on the frequency of Nail-patella syndrome, as well as its inheritance patterns.

One useful feature of PubMed is the ability to search for articles by specific gene names. Nail-patella syndrome is caused by mutations in the LMX1B gene, and PubMed allows you to search for articles that specifically focus on this gene. This can be helpful when you want to learn more about the role of LMX1B in the development of Nail-patella syndrome.

In addition to gene-specific articles, PubMed also provides access to articles that discuss other aspects of Nail-patella syndrome. These may include studies on the clinical presentation of the condition, as well as resources for genetic testing and support for patients and families affected by Nail-patella syndrome.

Furthermore, PubMed can direct you to additional resources on Nail-patella syndrome. One such resource is OMIM (Online Mendelian Inheritance in Man), a catalog of human genes and genetic conditions. OMIM provides comprehensive information on Nail-patella syndrome, including references to scientific articles and clinical studies.

If you want access to even more information, you can also visit the websites of advocacy organizations and support groups dedicated to Nail-patella syndrome. These organizations often provide information on recent scientific advances, resources for genetic testing, and support for individuals and families affected by the condition.

In summary, PubMed is a valuable tool for accessing scientific articles on Nail-patella syndrome. It provides a wide range of articles on the genetic basis, clinical features, and associated symptoms of this rare condition. By using PubMed, you can stay up to date on the latest research and learn more about the genes and clinical trials associated with Nail-patella syndrome.

References

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