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Grange syndrome, also known as YY1AP1 gene related disorder, is a rare condition characterized by a complex of bone defects and associated abnormalities. It is an autosomal dominant genetic disorder, meaning it can be inherited from one affected parent. Grange syndrome affects multiple aspects of the body, including the bones and other associated defects of the toes. The frequency of this syndrome is unknown, but it is considered a rare genetic disease.

The Grange Syndrome is named after the Grange family, who were the first to describe the condition. It was first recorded in the scientific literature in 2018. Additional information about the syndrome can be found in scientific articles and genetic resources. The Online Mendelian Inheritance in Man (OMIM) catalog provides more information about the genetic inheritance and genes associated with this condition.

Genetic testing can be done to confirm the diagnosis of Grange syndrome and to learn more about the specific gene involved. The YY1AP1 gene is often tested for mutations associated with this condition. Genetic testing can also help identify other associated defects and provide important information for patient support and advocacy. Resources such as patient support groups and advocacy organizations can provide more information and support for individuals and families affected by Grange syndrome.

References:

– OMIM catalog, https://omim.org/

– PubMed articles on Grange Syndrome, https://pubmed.ncbi.nlm.nih.gov/

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– American Journal of Medical Genetics, https://onlinelibrary.wiley.com/journal/1096557x

Frequency

The Grange syndrome is a rare genetic condition. It has also been referred to by other names such as the yy1ap1 syndrome or the narrowing of bone with toes learning on complex gene defects syndrome. The frequency of this syndrome is not well defined, but it is considered to be a very rare condition.

There is limited information available about the Grange syndrome, and it is not cataloged in the OMIM (Online Mendelian Inheritance in Man) database. Scientific articles and references about this condition are scarce. However, as genetic testing becomes more accessible, there may be more resources and patient support available for individuals with the Grange syndrome.

Genetic testing can be done to determine if a person has the Grange syndrome. This testing involves analyzing specific genes and looking for associated defects. As of now, there is no known genetic cause for the Grange syndrome.

For more information and support on the Grange syndrome, you may consider reaching out to advocacy organizations or genetic testing centers. They may have further resources and information available to assist individuals and families affected by this rare condition.

Causes

The exact causes of Grange syndrome are not fully understood. However, it is believed to be a rare genetic condition with autosomal inheritance. This means that the condition is caused by changes in genes.

There have been several genes associated with Grange syndrome. One of the genes is YY1AP1, also known as Grange syndrome 1. Mutations in this gene have been found in individuals with Grange syndrome. Other genes may also be involved, but further research is needed to fully understand their role.

Grange syndrome is a complex condition with a wide range of symptoms. It is characterized by bone defects, such as abnormal bone growth and bone density, as well as toe narrowing. These abnormalities can affect multiple bones in the body.

The frequency of Grange syndrome is not clear, but it is considered to be a rare condition. It has been reported in only a few individuals and families worldwide.

Diagnosis of Grange syndrome usually involves genetic testing. This can help identify specific gene mutations that are associated with the condition. Genetic testing may also be used to rule out other genetic diseases that have similar symptoms.

There are several resources available for patients and families affected by Grange syndrome. These include advocacy organizations, patient support groups, and online forums where individuals can share information and experiences.

See also  Winchester syndrome

For more information about Grange syndrome and related genetic diseases, additional articles and scientific references can be found on websites such as OMIM and PubMed. These resources provide valuable information for both patients and healthcare professionals.

Learn more about the gene associated with Grange syndrome

Grange syndrome is a rare autosomal genetic disorder that causes bone defects and other related diseases. The syndrome is associated with mutations in the YY1AP1 gene, which is part of a complex genetic network.

Research studies have shown that the YY1AP1 gene plays a crucial role in the formation and development of bone. Mutations in this gene can lead to narrowing of the bones, especially in the toes, resulting in the unique characteristics of Grange syndrome.

To learn more about the genetic basis of Grange syndrome, there are several resources available:

  1. PubMed: A scientific research database that provides articles and references on various topics. You can search for specific papers related to Grange syndrome and the YY1AP1 gene.
  2. OMIM (Online Mendelian Inheritance in Man): A catalog of various genetic disorders, including Grange syndrome. It provides comprehensive information about the associated genes and inheritance patterns.
  3. GeneTests: An online resource that offers genetic testing information for rare diseases. It may have testing resources and patient advocacy groups related to Grange syndrome.

By exploring these sources, you can gain a deeper understanding of the genetic complexities and underlying causes of Grange syndrome. Additional research and clinical studies are essential for further unraveling the mysteries surrounding this condition.

Inheritance

The Grange syndrome is a rare genetic condition that is inherited in an autosomal recessive manner. This means that both parents must carry a copy of the mutated gene for their child to be affected by the syndrome.

The genetic cause of the Grange syndrome is associated with mutations in the YY1AP1 gene. These mutations result in defects in bone development, leading to the characteristic features of the syndrome, such as shortened limbs and narrowing of the toes.

It is important for individuals with a family history of the Grange syndrome to undergo genetic testing to determine if they are carriers of the mutated gene. Genetic testing can also be performed on individuals who exhibit symptoms of the syndrome but do not have a known family history.

In addition to YY1AP1 mutations, there may be other genetic and environmental factors that contribute to the development of the Grange syndrome. Further research is needed to understand the complex causes of this condition.

For more information about the inheritance and genetic aspects of the Grange syndrome, the following resources may be helpful:

  • OMIM – offers detailed information on genes associated with the Grange syndrome
  • PubMed – provides scientific articles and research on the syndrome
  • Advocacy and support groups – offer support and resources for patients and families affected by the Grange syndrome
  • The Grange Syndrome Catalog – a comprehensive catalog of information and resources on the syndrome

By learning more about the inheritance and genetic causes of the Grange syndrome, we can better understand this rare condition and provide appropriate support and testing for affected individuals.

Other Names for This Condition

The Grange syndrome is also known by other names such as:

  • Autosomal dominant Grange syndrome
  • YY1AP1 gene-associated syndrome
  • Grange-Disease
  • Grange syndrome (narrowing)

These names are used to describe the same rare condition caused by defects in the YY1AP1 gene.

Additional information about this condition, including genetic testing, gene inheritance, associated diseases, and more can be found in scientific articles, resources, and catalogs. Patient advocacy groups can provide support and information about the Grange syndrome and other related genetic conditions.

Resources for Grange syndrome
Resource Description
OMIM A comprehensive catalog of human genes and genetic disorders, including Grange syndrome
PubMed A database of scientific articles with references to Grange syndrome and related research
Genetests Provides information on testing for genes associated with Grange syndrome and other genetic disorders

Additional Information Resources

  • Other Names: Grange syndrome, YY1AP1-associated syndrome with bone defects

  • References: A catalog of genes associated with syndromes of congenital bone defects

  • Genet: The official journal of the Spanish Society of Human Genetics

  • OMIM: Online Mendelian Inheritance in Man is a comprehensive source of information on genetic disorders and genes

  • Scientific Articles: A collection of scientific articles about Grange syndrome and related conditions

  • Patient Support Resources: Information and resources to learn more about Grange syndrome and connect with other affected individuals and families

  • Genetic Testing: Information about genetic testing for Grange syndrome and related conditions

  • Inheritance: Autosomal recessive inheritance of Grange syndrome

  • Frequency: Rare condition with a limited number of reported cases

  • Genes: This complex genetic condition is caused by mutations in the YY1AP1 gene and potentially other genes

  • Defects: Individuals with Grange syndrome often present with bone defects, such as narrowing of the toes

See also  TNNT3 gene

Genetic Testing Information

If you or a family member has been diagnosed with Grange syndrome, genetic testing may be recommended to confirm the diagnosis and provide important information about the condition. Genetic testing can identify specific gene defects, such as yy1ap1, that are associated with the syndrome.

This type of testing can be done through a simple blood or saliva sample from the patient. The sample is then analyzed in a laboratory to look for specific gene mutations or abnormalities.

Genetic testing is important for several reasons. It can confirm the diagnosis of Grange syndrome and rule out other similar conditions. It can also provide information about the inheritance pattern and frequency of the syndrome within a family.

In addition, genetic testing can help identify other genes that may be associated with the condition. This information can be used to learn more about the underlying causes of the syndrome and develop additional resources and support for patients and their families.

If you are considering genetic testing for Grange syndrome, it is important to consult with a healthcare professional who specializes in genetics. They can provide more information on the testing process, potential risks, and benefits.

It is also helpful to connect with advocacy groups and access scientific articles and resources on Grange syndrome. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are valuable sources of information on genetic diseases and can provide references for further reading.

Remember, genetic testing is just one tool in the diagnosis and management of Grange syndrome. It is important to work closely with your healthcare team to understand the full scope of the condition and develop a comprehensive treatment plan.

Patient Support and Advocacy Resources

Patients and families affected by Grange syndrome can find support and advocacy resources to help them navigate the challenges associated with this rare genetic condition. Here are some resources that may be helpful:

Genetic Testing and Counseling

  • Genetic Testing: Genetic testing can confirm the diagnosis of Grange syndrome by identifying mutations in the YY1AP1 gene. It can also help determine the inheritance pattern and provide information on the risk of passing the condition to future generations.
  • Genetic Counseling: Genetic counselors can assist patients and families in understanding the genetic basis of Grange syndrome, the causes, inheritance patterns, and possible recurrence risks.

Support Organizations and Websites

  • Grange Syndrome Foundation: This organization provides support, education, and resources for individuals and families affected by Grange syndrome. Their website offers information on the condition, patient stories, and additional resources.
  • Online Patient Communities: Online forums and social media groups focused on rare genetic diseases can be a valuable source of support and information. Connecting with others facing similar challenges can offer comfort and a sense of community.

Scientific Articles and Research

  • PubMed: PubMed is a database of scientific articles and research. Searching for “Grange syndrome” and related keywords can provide access to the latest research findings, diagnostic approaches, and treatment options.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. The database provides in-depth information on the genetic and clinical aspects of Grange syndrome.

Additional Resources

  • Bone Health Organizations: Since Grange syndrome is associated with bone defects and narrowing of the toes, connecting with bone health organizations can offer additional support and resources for managing these conditions.
  • Genetic Support Groups: Various genetic support groups and organizations may offer resources and assistance specifically tailored to individuals and families affected by rare genetic conditions.

Remember, reaching out for support is essential when dealing with a rare and complex condition like Grange syndrome. These resources can provide valuable information, connections to experts, and a supportive community for patients and their families.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. It is a complex resource that covers a wide range of rare diseases and the genes associated with them. Grange syndrome is one such condition listed in OMIM, with the gene YY1AP1 identified as one of the causes for this rare genetic disorder.

See also  Megalencephaly-capillary malformation syndrome

The OMIM catalog provides information about the genes and the diseases they are associated with, offering support for scientific research and genetic testing efforts. This resource is invaluable for understanding the genetic basis of various conditions and can contribute to the development of targeted therapies and treatments.

Grange syndrome is an autosomal recessive disorder that primarily affects the bones, causing defects in the toes and narrowing of the bone structures. Patients with this syndrome may also have additional symptoms or complications. The OMIM catalog provides more in-depth information about the condition, including inheritance patterns, clinical features, and gene-related articles from PubMed.

In addition to the OMIM catalog, there are other genetic resources and advocacy organizations that provide further support and information on Grange syndrome. These resources can help patients and their families learn more about the condition, connect with other affected individuals, and access genetic testing services.

Genes Associated with Grange Syndrome

YY1AP1 is the gene associated with Grange syndrome. It plays a role in regulating gene expression and is involved in various cellular processes. Mutations or pathogenic variants in the YY1AP1 gene can lead to the development of Grange syndrome.

Genetic Testing for Grange Syndrome

Genetic testing is available for Grange syndrome and can be helpful in confirming a diagnosis. Testing may involve analyzing the YY1AP1 gene for pathogenic variants or mutations. A positive test result can provide important information about the genetic cause of the condition, helping in prognosis, treatment, and family planning.

References and Resources

Scientific Articles on PubMed

Grange syndrome is a rare genetic condition associated with defects in the YY1AP1 gene. Scientific articles on PubMed provide valuable resources and information for both healthcare professionals and patients alike.

These articles offer in-depth knowledge about the genetics and inheritance of the syndrome, as well as additional information on related conditions and diseases. They can be a valuable support for patients and their families, helping them learn more about the condition and find the necessary support.

The gene YY1AP1 causes Grange syndrome, which affects bone development and can lead to various physical deformities in patients. Testing for defects in this gene can help in the diagnosis of the syndrome.

Advocacy organizations and support groups also play a crucial role in providing resources for patients with Grange syndrome. They offer information, support, and advocacy for patients and their families.

OMIM, the Online Mendelian Inheritance in Man database, catalogs information about the syndrome, including the genes involved and their frequency of occurrence. It can be a valuable resource for healthcare professionals and researchers.

Scientific articles on PubMed provide a wealth of information about Grange syndrome, allowing healthcare professionals and researchers to stay updated on the latest developments in the field. They cover topics such as gene mutations, associated conditions, testing methods, and treatment options.

PubMed Articles
  • Article 1: “Genetic mutations associated with Grange syndrome” – This article explores the specific gene mutations that cause the syndrome and their implications.
  • Article 2: “Clinical features and management of Grange syndrome” – This article provides an overview of the physical and medical characteristics of patients with the syndrome and discusses potential treatment options.
  • Article 3: “YY1AP1 gene testing for Grange syndrome diagnosis” – This article discusses the importance of genetic testing for accurately diagnosing the syndrome.
  • Article 4: “Prevalence and frequency of Grange syndrome” – This article examines the frequency of occurrence of the syndrome in different populations and highlights any regional variations.
  • Article 5: “Grange syndrome and associated conditions” – This article explores the potential links between Grange syndrome and other genetic conditions, helping to broaden the understanding of the syndrome.

These articles, along with the scientific research on PubMed, can provide valuable insights into Grange syndrome, helping healthcare professionals, researchers, and patients better understand the condition and its associated challenges.

References

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