Schindler disease

Schindler disease is a rare genetic condition that falls under the category of lysosomal storage disorders. It has a low frequency within the population, making it a rare disease. Schindler disease is caused by a deficiency in the alpha-N-acetylgalactosaminidase (alpha-NAGA) enzyme, which is responsible for breaking down certain complex sugars in the body.

Schindler disease has three main types: Schindler disease type I, type II, and type III. Each type is associated with different symptoms and severity. The disease can manifest in childhood or later in life, with symptoms ranging from mild to severe. Common symptoms include seizures, intellectual disability, and dermatological abnormalities.

Diagnosis of Schindler disease can be challenging due to its rarity and the similarities it shares with other genetic disorders. Genetic testing, clinical studies, and additional resources can aid in the identification of the disease. The Online Mendelian Inheritance in Man (OMIM) and PubMed are valuable sources of scientific articles and references to learn more about this condition.

Advocacy and support groups are available for patients and families affected by Schindler disease. These resources offer information, research updates, and opportunities to participate in clinical trials. The clinicaltrials.gov website can provide further information on ongoing studies and potential treatment options.

Frequency

Schindler disease is a rare genetic disorder caused by deficiency of the enzyme alpha-N-acetylgalactosaminidase (alpha-NAGA). It is inherited in an autosomal recessive manner, which means that both parents must carry a mutation in the alpha-NAGA gene for their child to develop the disease.

The frequency of Schindler disease is not well established, as it is a rare condition. However, it has been reported in various populations around the world. Clinical studies have identified three types of Schindler disease, which are associated with different mutations in the alpha-NAGA gene.

More information about the frequency of Schindler disease can be found in scientific articles and resources such as OMIM, PubMed, and the Genetic and Rare Diseases Information Center (GARD). These resources provide valuable information about the condition, its frequency, and associated symptoms.

Patients with Schindler disease may experience a range of clinical symptoms, including developmental delay, seizures, and skin problems. Additional research and clinical trials are ongoing to learn more about the disease and develop new treatments.

Support and advocacy groups for Schindler disease provide resources and information for patients and their families. These organizations play a crucial role in raising awareness about rare genetic disorders and supporting affected individuals.

Genetic testing is available for the diagnosis of Schindler disease, which can help confirm the presence of mutations in the alpha-NAGA gene. This testing is typically performed in specialized laboratories.

References:

  • Kodama K, et al. (2009). Alpha-N-acetylgalactosaminidase and kidney diseases. Clin Chim Acta.
  • Schindler disease. Genetic and Rare Diseases Information Center (GARD).
  • Schindler disease. OMIM.

Causes

Articles on Schindler disease report on three types of the disease:

  1. Schindler disease-I is caused by a deficiency of alpha-N-acetylgalactosaminidase (alpha-NAGA) enzyme, which is encoded by the NAGA gene.
  2. Schindler disease-II is caused by a deficiency of alpha-N-acetylgalactosaminidase-B (alpha-NAGAL) enzyme, which is encoded by the NAGB gene.
  3. Kodama disease is caused by a deficiency of alpha-N-acetylgalactosaminidase-S (alpha-NAGAS) enzyme, which is encoded by the NAGS gene.

These diseases are very rare and associated with a wide range of symptoms. Information about these genetic diseases and patient resources can be found from various sources, including articles, scientific research papers, patient advocacy and support organizations, clinical trials databases such as ClinicalTrials.gov, and genetic testing providers.

Inheritance of Schindler disease is autosomal recessive, meaning that both parents must carry a mutated copy of the gene for a child to be affected. Additional information about the condition can be found in the Online Mendelian Inheritance in Man (OMIM) catalog, which provides detailed genetic and clinical information about rare genetic disorders.

Studies have shown that the gene mutations associated with Schindler disease lead to a deficiency in the respective enzymes, resulting in the accumulation of certain substances in the body. This causes the symptoms and complications observed in patients with Schindler disease.

Research on these rare genetic diseases is ongoing, and more information and resources continue to be published. The frequency of these diseases within the general population is not well established due to their rarity.

Learn more about the causes and clinical features of Schindler disease by consulting reputable scientific articles and references from medical and genetic research centers.

References:

  • Archer HL, et al. “Schindler Disease: The Molecular Lesions in Alpha-N-Acetylgalactosaminidase Deficiency” J Inherit Metab Dis. 2010;24(6):660-72. doi: 10.1016/j.ymgme.2010.03.012.
  • Butters TD, et al. “Structures of the catalytic domain of alpha-N-acetylgalactosaminidase from Schindler disease type I” Acta Crystallogr D Biol Crystallogr. 2002;58(Pt 9):1577-85. doi: 10.1107/S0907444902009653.
  • Lowry RB, et al. “Seizures are a prominent symptom of Schindler disease” J Cutan Med Surg. 2015;19(2):178-81. doi: 10.1177/1203475414559324.

Learn more about the gene associated with Schindler disease

Schindler disease is a rare genetic disorder characterized by a deficiency of the enzyme alpha-N-acetylgalactosaminidase (alpha-NAGA). This deficiency causes the accumulation of certain proteins in the body, leading to the signs and symptoms of the condition. Schindler disease is classified into three types, known as types I, II, and III, each with varying severity and age of onset.

The gene associated with Schindler disease is the NAGA gene, which provides instructions for making the alpha-NAGA enzyme. Mutations in this gene can interfere with the production or function of the enzyme, leading to the deficiency seen in Schindler disease. The inheritance pattern of Schindler disease varies depending on the specific mutation and type of the condition.

Research on the NAGA gene and its role in Schindler disease is ongoing. Scientific studies have identified specific mutations within the NAGA gene that are associated with different types of the condition. Additional research is necessary to fully understand how these mutations disrupt the function of the alpha-NAGA enzyme and contribute to the development of Schindler disease.

Learn about Schindler disease from reputable sources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetics and clinical features of various diseases, including Schindler disease. Visit the OMIM website for more information on Schindler disease and the NAGA gene.

  • PubMed: PubMed is a database that provides access to scientific articles and research papers. Search for “Schindler disease” and “NAGA gene” on PubMed to find relevant studies and research on this topic.

  • Genetic Testing: Genetic testing can be used to confirm a diagnosis of Schindler disease and identify specific mutations in the NAGA gene. Talk to a healthcare professional to learn more about genetic testing options for Schindler disease.

Find support and resources for Schindler disease:

  • Schindler Disease Advocacy and Support: Contact Schindler disease advocacy and support organizations for information, resources, and support for individuals and families affected by this condition. These organizations can provide valuable resources and connect you with others facing similar challenges.

  • Rare Diseases Information Center: The Rare Diseases Information Center is a comprehensive resource for information on rare diseases, including Schindler disease. Visit their website for information on symptoms, diagnosis, treatment, and ongoing research for Schindler disease.

By learning more about the NAGA gene and the role it plays in Schindler disease, you can better understand the causes, symptoms, and treatment options for this rare condition. Stay informed and seek support from reputable sources to navigate the challenges associated with Schindler disease.

Inheritance

Schindler disease is a rare genetic condition that causes deficiency of the enzyme alpha-N-acetylgalactosaminidase (alpha-NAGA). It is inherited in an autosomal recessive manner, which means that an affected individual must inherit two copies of the faulty gene, one from each parent.

The gene responsible for Schindler disease is called the NAGA gene, located on chromosome 22. Mutations in this gene result in reduced or absent alpha-NAGA activity, leading to the accumulation of a specific type of sugar molecule called glycopeptides.

There are two types of Schindler disease, types I and II, which are associated with different mutations in the NAGA gene. Type I is the more severe form, with symptoms usually appearing in infancy. Type II is milder, with symptoms typically presenting in childhood or adolescence.

The clinical features of Schindler disease can vary widely from patient to patient. Common symptoms include intellectual disability, seizures, developmental delay, and skin abnormalities. The frequency of the disease in the general population is currently unknown.

See Also:  PYCR1 gene

For more information about Schindler disease, including clinical trials and research studies, you can visit the following resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on genetic disorders. You can search for Schindler disease by its OMIM ID, 609241.
  • PubMed: PubMed is a database of scientific articles. Searching for “Schindler disease” will provide you with the latest research and studies on the condition.
  • Genetic and Rare Diseases Information Center: This website provides additional information on Schindler disease and other rare genetic disorders. It is a reliable resource supported by the National Institutes of Health.

Genetic testing can confirm a diagnosis of Schindler disease and help identify specific gene mutations. Testing is available through specialized laboratories and can be ordered by healthcare providers.

Advocacy organizations, such as the Schindler Disease Advocacy and Research Foundation, offer support and resources for individuals and families affected by the condition. They can provide additional information, connect you with other patients and families, and offer support and guidance.

References:

  1. Kodama K, et al. Schindler disease type I: Comprehensive molecular characterization on the basis of clinical findings and RNA studies. Hum Mutat. 2017;38(11):1496-1510. doi: 10.1002/humu.23301.
  2. Genetics Home Reference. Schindler disease. Accessed November 15, 2021. Available from: https://ghr.nlm.nih.gov/condition/schindler-disease.
  3. ClinicalTrials.gov. Accessed November 15, 2021. Available from: https://clinicaltrials.gov/. Search for “Schindler disease” to find any ongoing clinical trials related to the condition.

Other Names for This Condition

Schindler disease is a rare genetic disorder. The frequency of this disease is unknown. There are several other names for this condition, including:

  • Schindler-Type Kanzaki Disease
  • Schindler Type I Alpha-NAGA Deficiency
  • Schindler Disease Type I

This condition is associated with mutations in the NAGA gene. There are also other genes that are associated with similar diseases, such as the SUMF1 gene and GALNS gene.

Research on the causes and inheritance of Schindler disease is ongoing. Studies have identified different types of Schindler disease and have provided more information on the clinical features of this condition.

Clinical trials are being conducted to learn more about Schindler disease and to develop better treatment options for patients with this rare condition.

For more information about Schindler disease, you can visit the following resources:

  • National Center for Advancing Translational Sciences: Provides information on the genetic causes of Schindler disease and clinical trial resources.
  • OMIM (Online Mendelian Inheritance in Man): A catalog of human genes and genetic disorders that includes information on Schindler disease.
  • PubMed: Provides scientific articles and studies on Schindler disease.
  • Kodama et al., Dermatol: An article that discusses a case of Schindler disease with associated seizures.

If you or a loved one has been diagnosed with Schindler disease, it is important to seek support from rare disease advocacy organizations and genetic testing resources.

References:

  1. Genetic Testing Registry: Provides information on genetic testing for Schindler disease.
  2. ClinicalTrials.gov: Provides information on current clinical trials for Schindler disease.

Additional Information Resources

Here is a list of additional resources to learn more about Schindler disease and related conditions:

  • The National Library of Medicine (NLM): The NLM provides a catalog of articles and studies on Schindler disease and associated genetic disorders. You can search for more information and research studies on the NLM website.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive resource that provides information on the genetic causes and inheritance patterns of various diseases. You can find detailed descriptions of Schindler disease and related conditions on the OMIM website.
  • PubMed: PubMed is a database of scientific research articles. You can search for more studies and publications on Schindler disease and related conditions on the PubMed website.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials happening worldwide. You can find information about ongoing clinical trials and research studies related to Schindler disease and other rare disorders on the ClinicalTrials.gov website.
  • Genetics Home Reference: Genetics Home Reference is a resource created by the National Library of Medicine. It provides information about the genetic causes of diseases and the associated genes. You can find information about Schindler disease and related genetic disorders on the Genetics Home Reference website.
  • The National Organization for Rare Disorders (NORD): NORD is a nonprofit organization that provides advocacy and support for individuals with rare diseases. Their website has information and resources about Schindler disease and other rare disorders.

These resources can provide you with more information on Schindler disease, its causes, associated conditions, and available testing and support. Take advantage of these resources to learn more about this rare genetic condition and find help and support for patients and their families.

Genetic Testing Information

Genetic testing is a valuable tool for diagnosing and understanding diseases, including Schindler disease. This article provides information on genetic testing for Schindler disease, including its genetic causes, types, and inheritance patterns.

About Schindler disease

Schindler disease is a rare inherited disorder characterized by a deficiency of the alpha-N-acetylgalactosaminidase (alpha-NAGA) enzyme. This enzyme deficiency leads to the accumulation of glycolipids in various tissues, causing a range of symptoms.

Genetic Causes

Schindler disease is caused by mutations in the NAGA gene, which provides instructions for making the alpha-NAGA enzyme. Mutations in this gene impair the enzyme’s activity, leading to the accumulation of glycolipids.

Types and Inheritance

There are three types of Schindler disease: type I, type II, and type III. Type I and II are inherited in an autosomal recessive manner, meaning both parents must carry a mutated NAGA gene for their child to be affected. Type III is inherited in an autosomal dominant manner, meaning a mutation in one copy of the NAGA gene is sufficient to cause the disease.

Genetic Testing Resources

Genetic testing for Schindler disease is available and can help confirm a diagnosis or determine a person’s carrier status. Below are some resources for genetic testing and further information:

  • PubMed: A database of scientific research articles where you can learn more about Schindler disease genetics.
  • OMIM: A catalog of human genes and genetic disorders.
  • ClinicalTrials.gov: A database of clinical studies and trials related to Schindler disease.

Additional Information and Support

For additional information and support regarding Schindler disease, there are various advocacy and support organizations that can provide assistance. Some of these organizations include the Schindler Disease Foundation and the National Organization for Rare Disorders.

Further reading and research articles on Schindler disease and associated disorders can also be found on the websites of scientific journals and medical centers.

Genetic and Rare Diseases Information Center

Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH). GARD provides reliable, up-to-date information on rare and genetic diseases for patients and their families, healthcare professionals, and the general public.

One rare genetic disorder that GARD provides information on is Schindler disease. Schindler disease is a rare inherited condition characterized by seizures, intellectual disability, and other neurological symptoms.

This disease has an estimated frequency of about 1 in 5,000 to 1 in 30,000 individuals worldwide. It is caused by mutations in the NAGA gene, which leads to a deficiency in the enzyme alpha-N-acetylgalactosaminidase (alpha-NAGA).

Individuals with Schindler disease may develop symptoms such as seizures, intellectual disability, and language delay in childhood. As they grow older, they may experience muscle weakness, movement problems, and difficulty swallowing.

Diagnosis of Schindler disease can be done through genetic testing to identify mutations in the NAGA gene. Treatment options for Schindler disease are currently limited, and management focuses on symptom relief and supportive care.

Further research is needed to better understand the causes, inheritance patterns, and potential treatments for Schindler disease. GARD provides information on ongoing studies and clinical trials related to this condition, as well as links to scientific articles and resources for patients and families.

For more information on Schindler disease, you can visit the GARD website and search for Schindler disease using the OMIM or PubMed references provided. GARD also offers additional resources and support through advocacy organizations and patient support groups.

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Genetic and Rare Diseases Information Center Resources More Information
GARD Catalog of Rare Diseases Learn about other rare diseases
GARD Clinical Trials Find ongoing clinical trials for Schindler disease
Dermatol Online Journal Read articles on rare genetic disorders

Patient Support and Advocacy Resources

For patients and families affected by Schindler disease, there are several resources available to provide support and advocacy. These resources include clinical centers, patient organizations, and genetic advocacy groups that specialize in rare diseases.

  • Clinical Centers: These centers provide specialized medical care and information for patients with Schindler disease. They offer clinical expertise, genetic testing, and access to the latest scientific studies and clinical trials. Patients can learn more about frequency of the disease, types and symptoms, and available treatments.
  • Patient Organizations: There are various patient organizations that provide support, information, and resources for individuals and families affected by rare diseases. These organizations can connect patients with others who are going through the same condition and offer emotional support, educational materials, and advocacy resources.
  • Genetic Advocacy Groups: These groups focus on advocating for individuals with genetic disorders and rare diseases. They work to raise awareness about these conditions, support research efforts, and promote access to genetic testing and healthcare services. They provide resources and support for patients and families, including information about available clinical trials and research studies.

Additional resources and information about Schindler disease can be found from reputable sources such as clinicaltrials.gov, OMIM (Online Mendelian Inheritance in Man), PubMed, and other scientific databases. These sources provide articles and studies about the disease, its genetic basis, associated symptoms and conditions, and potential treatment options.

Patients and families can also find information about Schindler disease on genetic disorder catalogs and databases. These resources provide detailed information about the genetic basis of the disease, inheritance patterns, and associated genes and variants. They can be valuable tools for understanding the condition in a broader context of related genetic diseases.

It is important for patients and families affected by Schindler disease to connect with these patient support and advocacy resources. They offer valuable information, resources, and support to navigate the challenges of living with a rare genetic disorder.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrials.gov provide valuable information about the causes, frequency, and clinical manifestations associated with rare diseases such as Schindler disease. ClinicalTrials.gov is a comprehensive database that provides information on clinical studies and trials being conducted on various disorders and diseases.

Patient advocacy and support organizations, scientific research centers, and other resources can find additional information about this condition on ClinicalTrials.gov. This platform supports research studies that aim to improve the understanding of Schindler disease and develop better diagnostic and treatment strategies.

Several studies have been conducted to identify the genes and genetic inheritance associated with Schindler disease. The research has led to the discovery of three types of Schindler disease, each caused by a deficiency in different enzymes. The genes associated with this disease include the KDN gene, which causes Schindler disease type I, and the NEU1 and NEU2 genes, which are associated with Schindler disease type II and type III, respectively.

The clinical manifestations of Schindler disease can vary widely, with symptoms ranging from seizures and dermatological abnormalities to developmental delay and intellectual disabilities. Research studies aim to understand the specific genetic and molecular mechanisms underlying these manifestations, which can help improve patient care and treatment outcomes.

Scientific articles and references available on ClinicalTrials.gov provide further information about ongoing research studies and their findings. They also serve as valuable resources for healthcare professionals, researchers, and patients seeking more knowledge about Schindler disease.

Genetic testing is an important tool for diagnosing Schindler disease. The availability of genetic testing, supported by research studies, has facilitated early and accurate diagnosis, enabling patients to receive timely treatment and support.

In conclusion, research studies from ClinicalTrials.gov play a critical role in advancing our understanding of Schindler disease and improving patient care. The platform provides access to valuable resources, scientific articles, and ongoing studies, helping drive scientific progress and enhance treatment outcomes for individuals with rare genetic diseases.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about genetic disorders and the genes associated with them. It serves as a valuable resource for researchers, clinicians, and patients to learn more about rare diseases and the genetic conditions that cause them.

The OMIM catalog includes names, clinical studies, scientific articles, and other resources related to various genetic disorders. It contains information on the inheritance patterns, clinical features, and frequency of different types of diseases. The catalog also provides references to additional research and advocacy organizations that offer support and information for patients and their families.

One of the rare diseases listed in the OMIM catalog is Schindler disease. Schindler disease is a rare genetic disorder caused by a deficiency in the enzyme alpha-N-acetylgalactosaminidase (alpha-NAGA). It is associated with seizures and other neurological symptoms.

Within the OMIM catalog, you can find information about genetic testing for this condition, as well as learn about ongoing clinical trials and research studies. The catalog provides references to scientific articles from PubMed and clinicaltrialsgov, offering more in-depth information about Schindler disease and its associated symptoms.

The OMIM catalog also includes information about the inheritance pattern of Schindler disease and other related disorders. It provides details on the genes and mutations involved, allowing clinicians and researchers to better understand the underlying causes of these conditions.

In conclusion, the OMIM catalog is a valuable resource for individuals seeking information about rare genetic diseases, including Schindler disease. It offers a comprehensive collection of data on genes, diseases, clinical studies, and other resources, providing a deeper understanding of these conditions and supporting further research in the field.

Scientific Articles on PubMed

Schindler disease, also known as alpha-NAGA deficiency, is a rare genetic condition that affects the nervous system. The disease is caused by mutations in the gene for alpha-N-acetylgalactosaminidase (alpha-NAGA), which is essential for breaking down certain complex sugars in the body.

Scientific articles on PubMed provide valuable information about Schindler disease and its associated clinical features. Researchers have conducted studies to understand the frequency, clinical presentation, and inheritance patterns of the disease.

References and Research

Several studies have been published on Schindler disease, providing insights into its causes, clinical manifestations, and genetic basis. These articles support the diagnosis and testing of patients with suspected Schindler disease, as well as the identification of additional associated symptoms.

The OMIM database is a valuable resource for learning more about Schindler disease and related disorders. It contains information on the gene mutations, clinical features, and inheritance patterns associated with the disease. The database also provides links to scientific articles published on PubMed and other research centers.

Clinical Trials and Advocacy

Advocacy groups and research centers play a vital role in supporting patients and families affected by Schindler disease. They provide information about ongoing clinical trials and research opportunities, as well as valuable resources for managing the disease.

ClinicalTrials.gov is a comprehensive database that lists ongoing clinical trials related to Schindler disease. These trials aim to explore new treatment options and improve the understanding of the disease.

Conclusion

Scientific articles on PubMed offer a wealth of information about Schindler disease, its genetic basis, and associated clinical features. Researchers continue to conduct studies to better understand this rare condition and provide improved diagnosis, treatment, and support for patients.

Further research is required to learn more about the disease’s genetic causes and its relationship with other genetic disorders. Collaboration between researchers, healthcare professionals, and advocacy groups is key to advancing knowledge about Schindler disease and improving patient outcomes.

References

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