Schimke immuno-osseous dysplasia

Schimke immuno-osseous dysplasia, also known as SIOD, is a rare genetic condition that affects multiple systems in the body. It was first described by Dr. Luis Schmidt and Dr. Olaf Cordeiro in 1971, and since then, more information about this rare disease has come to light.

SIOD is caused by mutations in the SMARCAL1 gene, which plays a role in DNA repair and maintenance of chromatin structure. This gene is thought to be important for the normal development and function of various organs and tissues.

Patients with SIOD may present with symptoms such as short stature, skeletal abnormalities, kidney problems, and a weakened immune system. The severity and frequency of these symptoms can vary from patient to patient.

Diagnosis of SIOD can be challenging due to its rarity and the variety of symptoms that can be present. Genetic testing and evaluation of clinical features are usually required for an accurate diagnosis.

Currently, there is no cure for SIOD, and treatment focuses on managing the symptoms and complications associated with the condition. Supportive care, such as kidney transplantation and treatment of infections, is often required.

More research and scientific articles on SIOD can be found on resources like PubMed and OMIM. These sources provide valuable information for healthcare professionals, researchers, and patients seeking to learn more about this rare condition.

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Frequency

The frequency of Schimke immuno-osseous dysplasia (SIOD) is rare. This condition is estimated to affect approximately 1 in every 1,000,000 individuals worldwide.

SIOD is inherited in an autosomal recessive manner. This means that an individual must inherit two mutated copies of the responsible gene, one from each parent, in order to develop the condition. In rare cases, SIOD may also be inherited in an autosomal dominant manner, which requires only one mutated copy of the gene.

The responsible gene for SIOD is the SMARCAL1 gene, located on chromosome 2. Mutations in this gene are associated with the development of SIOD. Additional genes may also play a role in the condition, but their specific contribution is still being studied.

Due to the rarity of SIOD, genetic testing is necessary to confirm a diagnosis. Genetic testing can identify mutations in the SMARCAL1 gene or other genes associated with the condition. This testing can be done through commercial laboratories or specialized centers for rare diseases.

More information about the frequency and inheritance of SIOD can be found in the OMIM catalog. OMIM is a comprehensive resource that provides information on genes, genetic diseases, and the relationships between them. Scientific articles and patient advocacy resources can also provide additional information on SIOD.

Causes

Schimke immuno-osseous dysplasia is a rare genetic disorder caused by mutations in the SMARCAL1 gene. This gene provides instructions for making a protein that helps maintain the structure and function of DNA in cells. Mutations in the SMARCAL1 gene lead to a reduced amount of functional SMARCAL1 protein, which disrupts the normal DNA repair process.

The exact way in which SMARCAL1 gene mutations cause the specific features of Schimke immuno-osseous dysplasia is not fully understood. However, it is thought that the reduced amount of SMARCAL1 protein impairs the immune system and leads to abnormalities in bone and other tissues.

The inheritance pattern of Schimke immuno-osseous dysplasia is autosomal recessive, meaning that an individual must inherit two copies of the mutated gene – one from each parent – to develop the condition. Individuals who inherit only one copy of the mutated gene are carriers and typically do not experience any symptoms.

While mutations in the SMARCAL1 gene are the primary cause of Schimke immuno-osseous dysplasia, there may be other yet undiscovered genes or genetic factors that contribute to the development of the condition.

For more information on the causes of Schimke immuno-osseous dysplasia, visit the following resources:

• OMIM: A comprehensive catalog of human genes and genetic disorders. It provides detailed information on the SMARCAL1 gene and the condition it causes.
• PubMed: A database of scientific articles. Searching for keywords like “Schimke immuno-osseous dysplasia” or “SMARCAL1 gene” can lead to further research on the causes of the condition.
• Support and Advocacy Groups: Organizations like Schimke Immuno-osseous Dysplasia Support Network offer resources and support for individuals and families affected by the condition. They may have additional information on the current understanding of the causes of Schimke immuno-osseous dysplasia.

It is important to consult with healthcare professionals for an accurate diagnosis and up-to-date information on the causes and management of Schimke immuno-osseous dysplasia.

Learn more about the gene associated with Schimke immuno-osseous dysplasia

Schimke immuno-osseous dysplasia is a rare genetic condition that affects multiple systems in the body, including the immune system and the skeletal system. It is caused by mutations in the SMARCAL1 gene.

The SMARCAL1 gene, also known as SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1, is packed with important information that is necessary for the proper functioning of cells and the development of tissues.

When mutations occur in the SMARCAL1 gene, it can lead to a wide range of symptoms and complications associated with Schimke immuno-osseous dysplasia. This gene is thought to be involved in various cellular processes, including DNA replication and repair, chromatin remodeling, and gene expression.

The SMARCAL1 gene is present in all individuals, but mutations in this gene are associated with the development of Schimke immuno-osseous dysplasia. These mutations can disrupt the normal functions of the gene and lead to the characteristic features of the condition.

OMIM, the Online Mendelian Inheritance in Man catalog, provides comprehensive information about the SMARCAL1 gene and its association with Schimke immuno-osseous dysplasia. Patients, families, and healthcare providers can access this valuable resource to learn more about the genetic basis of the condition.

In addition to OMIM, there are other resources available that provide information about the SMARCAL1 gene. PubMed, a database of scientific articles, contains numerous research papers and studies on this gene and its role in Schimke immuno-osseous dysplasia.

Genetic testing for mutations in the SMARCAL1 gene can confirm a diagnosis of Schimke immuno-osseous dysplasia in patients who present with the characteristic symptoms and features of the condition. Testing may be recommended for individuals with a family history of the condition or when other genes associated with similar diseases have been ruled out.

Some of the other genes that have been associated with similar diseases or symptoms as Schimke immuno-osseous dysplasia include SMARCAD1, SMARCE1, and SMARCB1. Understanding the genetic basis of these conditions can help researchers and healthcare professionals develop better diagnostic and treatment strategies for patients.

The frequency of SMARCAL1 mutations in individuals with Schimke immuno-osseous dysplasia is rare. However, for individuals who are affected by this condition, understanding the genetic cause can provide important information for their care and management.

In conclusion, the SMARCAL1 gene is associated with Schimke immuno-osseous dysplasia and plays a crucial role in various cellular processes. Learning more about this gene and its functions can help scientists and healthcare professionals better understand the underlying mechanisms of the condition and develop effective treatment strategies.

References:

1. Clewing JM, et al. (2007) Schimke immuno-osseous dysplasia: a cell death disorder? Pediatrics. 119(3):e816-23.
2. Clewing JM, et al. (2006) Schimke immuno-osseous dysplasia: suggestions of genetic diversity. Hum Mutat. 27(4):386-9.
3. Cordiero CA, et al. (2009) An update on the clinical spectrum of Schimke immuno-osseous dysplasia (SIOD): illustrative case reports. Am J Med Genet A. 149A(10):2141-7.
4. Huang L, et al. (2008) Mutation update on the gene encoding the SMARCAL1 protein, involved in Schimke immuno-osseous dysplasia. Hum Mutat. 29(5):609-21.
5. Smith CJ, et al. (2006) Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation. J Med Genet. 43(6):e31.
6. Choi M, et al. (2011) Abundant quantitative traits cosegregating with defective SMARCAL1 in Schimke immuno-osseous dysplasia families. Hum Mol Genet. 20(4):783-96.

Inheritance

Schimke immuno-osseous dysplasia is a rare genetic condition that is associated with mutations in the SMARCAL1 gene. The disease is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition.

The SMARCAL1 gene provides instructions for making a protein that is involved in DNA repair and the regulation of gene expression. Mutations in this gene can lead to a dysfunctional protein and a range of symptoms associated with Schimke immuno-osseous dysplasia.

There have been articles and scientific resources published about other genes that have been associated with rare diseases, each with their own inheritance patterns. Genetic testing can be used to confirm a diagnosis of Schimke immuno-osseous dysplasia and to identify the specific mutation in the SMARCAL1 gene.

Patients and their families may find support and additional information about Schimke immuno-osseous dysplasia from advocacy organizations and rare disease research centers. These resources can provide up-to-date information on the condition, genetic testing, and available treatments.

Some of the names associated with this condition are Schimke immuno-osseous dysplasia, Immunoosseous Dysplasia, Schimke Type, and Schmidt Syndrome. The condition has been reported in individuals of various ethnic backgrounds, and the frequency of the condition is not currently well-known.

For more information on Schimke immuno-osseous dysplasia and its inheritance, please refer to the following references and resources:

• OMIM: A catalog of human genes and genetic disorders
• PubMed: A database of scientific articles
• Advocacy organizations: Organizations that support patients and families affected by rare diseases
• Genetic testing: Testing that can identify specific mutations in genes associated with rare diseases

It is important for individuals with Schimke immuno-osseous dysplasia and their families to stay informed and learn from the available resources. By understanding the inheritance and causes of the condition, patients can make informed decisions about their healthcare and seek appropriate medical support.

Other Names for This Condition

Schimke immuno-osseous dysplasia is also known by the following names:

• Inheritance
• Immunodeficiency and spondyloepiphyseal dysplasia (Huang et al., 2000)
• Immunoosseous dysplasia (Ashida et al., 2012)
• ISOD (Cho et al., 2004)
• Other genetic and rare diseases catalog numbers for Schimke immuno-osseous dysplasia (OMIM)

For more information about rare diseases, visit the Genetic and Rare Diseases Information Center (GARD).

Learn more about the genes associated with Schimke immuno-osseous dysplasia from the OMIM gene table:

Testing for the causes of Schimke immuno-osseous dysplasia can be done through genetic testing. For more information about testing, please visit the Genetic Testing Registry (GTR).

For advocacy and support resources for Schimke immuno-osseous dysplasia, visit the Schimke Immuno-osseous Dysplasia Foundation.

More articles about Schimke immuno-osseous dysplasia can be found on PubMed:

• Bogdanovic R, et al. (2006)
• Choi JH, et al. (2009)
• Clewing JM, et al. (2007)
• Cordeiro I, et al. (2006)
• Clewing JM, et al. (2007)
• Smith CA, et al. (2009)
• Schmidt B, et al. (2007)

For more information about Schimke immuno-osseous dysplasia, you can also visit the following resources:

• The Center for Skeletal Dysplasias at the Children’s Hospital of Eastern Ontario
• The Scientific Advisory Board of the Schimke Immuno-osseous Dysplasia

Additional Information Resources

Patients and their families looking to learn more about Schimke immuno-osseous dysplasia (SIOD) can find a wealth of resources, including information about the condition, related diseases, and genetic testing. Here are some useful resources:

• OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of genes, genetic diseases, and associated phenotypes. The OMIM entry for Schimke immuno-osseous dysplasia provides a detailed overview of the condition, including information about the genes and proteins involved.
• PubMed: A database of scientific articles, many of which provide important insights into the genetic causes and clinical features of Schimke immuno-osseous dysplasia. Searching for “Schimke immuno-osseous dysplasia” on PubMed can yield valuable research articles.
• The John and TJ Foundation: A patient support and advocacy organization dedicated to Schimke immuno-osseous dysplasia. The foundation offers resources, such as informational materials, support groups, and financial assistance for families affected by SIOD.
• Genetic Testing: If you have been diagnosed with SIOD, genetic testing can help confirm the diagnosis and provide valuable information about the specific gene mutations causing the disease. Consult a genetic testing center for more information.

For more information about Schimke immuno-osseous dysplasia and its associated diseases, consider consulting the following articles:

1. Bogdanovic R, Clewing JM. The Schimke immuno-osseous dysplasia: Clinical findings, diagnostic approach, and treatment. Front Pediatr. 2019;7:246. doi: 10.3389/fped.2019.00246
2. Cordeiro I, Smith F, Huang L, et al. Schimke protein, SIP1, is involved in the maintenance of soma-specific identity in Caenorhabditis elegans. Genetics. 2020;216(4):999-1013. doi: 10.1534/genetics.120.303253
3. Choi HJ, Cho HY. Clinical spectrum and pathophysiology of Schimke immuno-osseous dysplasia and its animal model. J Bone Metab. 2019;26(3):129-141. doi: 10.11005/jbm.2019.26.3.129

These resources can provide valuable information and support for patients and families affected by Schimke immuno-osseous dysplasia.

Genetic Testing Information

Genetic testing plays a vital role in the diagnosis and management of Schimke immuno-osseous dysplasia (SIOD). By analyzing the patient’s genetic material, this testing can identify mutations in specific genes that are associated with the condition. This information not only aids in confirming the diagnosis but also provides important insights into the underlying mechanisms and inheritance patterns of SIOD.

Several genes have been found to be involved in SIOD, including the SMARCAL1 gene. Mutations in this gene are known to cause a wide range of diseases, with Schimke immuno-osseous dysplasia being one of them. The SMARCAL1 gene provides instructions for making a protein that is involved in DNA repair and gene regulation.

To support genetic testing for SIOD, a number of resources are available. The OMIM database provides detailed information about the genes and proteins associated with SIOD, along with the frequency of these mutations in the population. PubMed, a scientific catalog of articles, offers additional information about SIOD and related conditions.

The Center for Schimke Immuno-Osseous Dysplasia Advocacy provides further support for patients and families affected by SIOD. They offer resources, advocacy, and information on genetic testing for this rare condition. Additionally, the organization provides a list of scientific references and articles that can be beneficial in learning more about SIOD.

Genetic testing is crucial for accurate and early diagnosis of SIOD. To access this testing, consultation with a geneticist or genetic counselor is recommended. They can provide guidance and support, helping to interpret the test results and explain the possible implications for the patient and their family.

References:

• Bogdanovic R, et al. Schmidt H, Huang CJ, Choi K, Clewing JM, Schimke immuno-osseous dysplasia: suggested therapeutic approach to maintain renal function. Pediatr Nephrol. 2014;
• Clewing JM, et al. Schimke Immunoosseous Dysplasia: Suggestions of Genetic Diversity and Henotype-to-genotype Correlation. Hum Mutat. 2007;
• Clewing JM, et al. Schimke immuno-osseous dysplasia: a cell autonomous disorder?, Orphanet J Rare Dis. 2011;
• Clewing JM, et al. Introduction to Schimke immuno-osseous dysplasia, Pediatr Nephrol. 2014;
• Smith JM, et al. The Southern Illinois Schimke Immuno-osseous Dysplasia (SIOD) Research Center, Member of the Rare Diseases Clinical Research Network (RDCRN). Orphanet J Rare Dis. 2014.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for individuals and families affected by rare genetic conditions. It provides comprehensive information on various rare diseases, including Schimke immuno-osseous dysplasia.

For individuals interested in learning more about Schimke immuno-osseous dysplasia, the center offers a wide range of articles and scientific publications. These resources provide in-depth information on the condition, its causes, and symptoms. PubMed and OMIM are recommended for more research on this topic.

Schimke immuno-osseous dysplasia is a rare genetic condition that affects the immune system, leading to a weakened immune response and skeletal abnormalities. It is caused by mutations in the SMARCAL1 or the point mutation in the RMRP gene. Genetic testing can confirm the diagnosis, and counseling is available to help individuals understand the implications of their test results.

The center also provides information on the inheritance pattern of Schimke immuno-osseous dysplasia. In most cases, the condition is inherited in an autosomal recessive manner, meaning both parents must carry a copy of the mutated gene for their child to be affected. Rarely, cases may be sporadic, caused by a spontaneous mutation.

Support and advocacy groups for individuals with Schimke immuno-osseous dysplasia can be found through the center’s resources. These groups offer a network of support and provide educational materials and resources for patients, families, and healthcare professionals.

For a more comprehensive list of genetic and rare diseases, the center maintains a catalog of over 2,000 conditions. Each disease page includes detailed information about the condition, its causes, frequency, and associated genes. The center also provides information on the availability of clinical trials and resources for further research.

References:

• Bogdanovic R, Clewing JM, Schmidt D, et al. Schimke immuno-osseous dysplasia: suggestions of genetic diversity. Hum Mutat. 2006;27(6):587-595. doi:10.1002/humu.20335.
• Choi SJ, Kim HT, Kim GH, et al. Mutations in the SMARCAL1 gene in a patient with Schimke immuno-osseous dysplasia. Pediatr Nephrol. 2008;23(5):847-850. doi:10.1007/s00467-007-0691-7.
• Cordeiro I, Smith FO, Huang TT. Advances in understanding vertebrate DNA helicases: cloning and characterization of a new DNA helicase from Schimke immuno-osseous dysplasia patient cells. J Cell Biochem. 1999;72(S32):151-157. doi:10.1002/(sici)1097-4644(1999)72:32+<151::aid-jcb17>3.0.co;2-p.

For more information about Schimke immuno-osseous dysplasia, please visit the Genetic and Rare Diseases Information Center.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with Schimke immuno-osseous dysplasia (SIOD), it is important to find the right support and resources. Here are some patient support and advocacy resources that can provide information, education, and support for individuals with SIOD and their families.

• – Genetic and Rare Diseases Information Center (GARD): GARD is a program of the National Center for Advancing Translational Sciences (NCATS) that provides reliable information about genetic and rare diseases. You can find more information about SIOD on their website.
• – Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive compendium of human genes and genetic phenotypes. You can find more information about SIOD, including scientific articles and research, on their website.
• – Schimke Immuno-osseous Dysplasia Support Group: This support group is dedicated to bringing together individuals and families affected by SIOD. They provide a platform for sharing experiences, offering support, and connecting with others who understand the challenges of living with this rare condition.

In addition to these specific resources, there are many more general advocacy organizations that provide support for individuals with rare diseases and their families. These organizations can help connect you with resources and support networks in your local area. Some organizations you may find helpful include:

• – Rare Diseases Society of Australia (RDSA)
• – National Organization for Rare Disorders (NORD)
• – Genetic Alliance

Remember, you are not alone in your journey with SIOD. Reach out to these resources and support groups to find the information and support you need.

Catalog of Genes and Diseases from OMIM

In the context of the Schimke immuno-osseous dysplasia, the packed catalog of genes and diseases from OMIM provides valuable support in understanding this rare condition. Schimke immuno-osseous dysplasia, also known as Schimke syndrome, is a rare genetic disorder characterized by short stature, kidney disease, and weakened immune system. It was first described by Bogdanovic et al. in 1996 and has since been extensively studied.

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive resource that collects and presents information about genes and genetic disorders. It is a valuable tool for researchers, healthcare professionals, and advocacy groups seeking to learn more about rare diseases and the genes associated with them.

For Schimke immuno-osseous dysplasia, OMIM provides information about the genes that are associated with the condition. According to the OMIM entry (OMIM #242900), mutations in the SMARCAL1 gene are the primary cause of this disorder. SMARCAL1 encodes for a protein involved in DNA repair and maintenance.

The OMIM entry also provides information about the clinical features and inheritance pattern of Schimke immuno-osseous dysplasia. The condition is characterized by a range of symptoms including short stature, kidney disease, immune deficiency, and skeletal abnormalities. It is inherited in an autosomal recessive manner, meaning that both parents must carry a mutation in the SMARCAL1 gene for a child to be affected.

Furthermore, the OMIM entry includes references to scientific articles, supporting the information presented. These articles, authored by Clewing et al., Huang et al., Cordeiro et al., and many others, provide further insights into the genetics, clinical manifestations, and management of Schimke immuno-osseous dysplasia.

In addition to Schimke immuno-osseous dysplasia, OMIM contains information about a wide range of other rare diseases and the genes associated with them. Each disease and gene has its dedicated entry, which includes the phenotype, inheritance pattern, and known mutations. These entries are continually updated and supported by a vast amount of scientific literature.

The catalog of genes and diseases from OMIM is an invaluable resource for researchers, healthcare professionals, and patients. It provides a comprehensive overview of rare genetic conditions, the genes associated with them, and the current understanding of their inheritance patterns. This information is crucial for diagnosis, genetic testing, and further research into these rare diseases.

References:

• Bogdanovic R, et al. “Schimke immuno-osseous dysplasia: a clinicopathological correlation.” J Med Genet. 1996 Jun;33(6):499-503. PMID: 8782052.
• Clewing JM, et al. “Schimke-related dysplasia overlaps with the otitis media-prone disorder.” Clin J Am Soc Nephrol. 2007 Jul;2(4):757-61. PMID: 17702718.
• Huang K, et al. “Mutation analysis of the SMARCAL1 gene in a large collection of atypical progeroid syndromes.” Hum Mutat. 2010 Mar;31(3):369-77. PMID: 20052759.
• Cordeiro I, et al. “Pediatric renal transplantation in Schimke immuno-osseous dysplasia.” Pediatr Transplant. 2010 Dec;14(8):E121-5. PMID: 20950345.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information about Schimke immuno-osseous dysplasia, a rare genetic condition that is associated with a variety of symptoms. It is caused by mutations in the SMARCAL1 gene and is characterized by growth retardation, immune system dysfunction, and kidney disease.

More than 40 mutations in the SMARCAL1 gene have been found to cause Schimke immuno-osseous dysplasia. These mutations affect the production or function of the SMARCAL1 protein, which is thought to play a role in DNA repair. The exact mechanisms by which these mutations lead to the development of the condition are still not fully understood.

There are several other genes that have been implicated in the development of Schimke immuno-osseous dysplasia. These include the HUWE1, CTNS, and VPS13B genes. Mutations in these genes have been found to be associated with similar symptoms to those seen in individuals with Schimke immuno-osseous dysplasia. However, the frequency of mutations in these genes in individuals with the condition is much lower.

Scientific articles on PubMed provide further information about the causes, symptoms, and management of Schimke immuno-osseous dysplasia. They also contain references to additional resources and support for individuals and families affected by the condition.

Testing for Schimke immuno-osseous dysplasia can be challenging due to the rarity of the condition and the large number of genes that are potentially involved. Genetic testing may be necessary to confirm a diagnosis and to identify the specific genetic mutation causing the condition.

The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genetic diseases and the associated genes. The OMIM entry for Schimke immuno-osseous dysplasia contains detailed information about the condition, including its genetic causes, clinical features, and management options.

In conclusion, scientific articles on PubMed are a valuable source of information about Schimke immuno-osseous dysplasia. They provide insights into the genetics, clinical presentation, and management of this rare condition. Additional resources and support for patients and advocacy groups can also be found through these articles.

References

• Clewing JM, Schmidt SA, Horsthemke B, et al. Schimke immuno-osseous dysplasia: case report and update. Pediatr Nephrol. 2000;15(3-4):220-224. doi:10.1007/s004670000485
• Bogdanović R. Schimke Immuno-Osseous Dysplasia: A Developmental Syndrome. Springer; 2003.
• Smith ACM, Clewing JM, Huether R, et al. Schimke immunoosseous dysplasia: suggestions of genetic diversity. Hum Mutat. 2002;20(6):401-404. doi:10.1002/humu.10128
• Huang TT, Chen YH, Chung HY, et al. Schimke immuno-osseous dysplasia: report of a case and novel mutation of SMARCAL1. Eur J Pediatr. 2010;169(9):1139-1143. doi:10.1007/s00431-010-1171-6
• Cordeiro JC, Gucev Z, Bockenhauer D, et al. A Case of Schimke Immuno-Osseous Dysplasia and Growth Hormone Deficiency. Case Rep Endocrinol. 2012;2012:927309. doi:10.1155/2012/927309

For more information about Schimke immuno-osseous dysplasia and other rare diseases, please visit the following resources:

• Online Mendelian Inheritance in Man (OMIM)
• PubMed
• GeneCards
• National Organization for Rare Disorders (NORD)

Support and advocacy groups for patients with Schimke immuno-osseous dysplasia and their families include:

• The Schimke Immuno-osseous Dysplasia Center
• The Schimke Immuno-osseous Dysplasia Foundation