Isolated congenital asplenia is a rare condition characterized by the absence of a spleen at birth. The spleen is an important organ that plays a vital role in the immune system, as well as in the production and storage of certain blood cells. The precise cause of isolated congenital asplenia is still unknown, but it is believed to be a result of genetic factors. Several genes have been identified that are associated with the development of this condition, and more research is ongoing to learn about their role and how they contribute to the absence of a spleen.

Isolated congenital asplenia is a genetic condition that is inherited in an autosomal recessive manner, meaning that both parents must carry a mutation in the same gene for their child to have the condition. The frequency of this condition in the general population is not well-known, but it is estimated to be rare. Additional research is needed to determine the exact prevalence.

The absence of a spleen can lead to a number of health complications, as the spleen is involved in immune responses and blood cell function. Patients with isolated congenital asplenia may be more susceptible to certain types of infections, particularly those caused by encapsulated bacteria. They may also have abnormalities in blood cell counts. Asplenia can be diagnosed through medical imaging tests, such as ultrasound or MRI, and genetic testing can be done to identify the specific gene mutations associated with the condition.

Treatment for isolated congenital asplenia mainly focuses on preventing and managing infections. This may include vaccinations and prophylactic antibiotics. It is also important for patients and their families to be educated about the condition and its potential complications, and to seek medical attention promptly if signs of infection or other issues arise. Supportive care and regular follow-up with a healthcare provider are essential for the long-term management of isolated congenital asplenia.

In conclusion, isolated congenital asplenia is a rare genetic condition characterized by the absence of a spleen at birth. Research is ongoing to better understand the genetic causes and mechanisms of this condition, as well as to develop improved diagnostic and treatment options. Patient advocacy organizations and scientific committees provide resources and information for affected individuals, their families, and healthcare providers. With continued research and support, we can learn more about isolated congenital asplenia and work towards better outcomes for those affected by this condition.

Frequency

The frequency of isolated congenital asplenia is currently unknown. According to OMIM (Online Mendelian Inheritance in Man), the condition is extremely rare, with only a few cases reported in the scientific literature. Sackstein et al. published an article in 2018 describing the clinical and genetic characteristics of four patients with isolated congenital asplenia.

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Additional articles and resources can be found on the OMIM website for those who wish to learn more about this condition. Testing for isolated congenital asplenia may be available through genetic testing laboratories. Patient advocacy organizations, such as the Committee for Asplenia, can provide support and information for individuals and families affected by the condition.

The exact cause of isolated congenital asplenia is currently unknown. However, it is believed to be the result of genetic factors. Several genes and proteins have been associated with the development of the spleen in humans, and alterations in these genes can lead to congenital asplenia. Puel et al. published a study in 2018 identifying mutations in the RPSA gene as a cause of isolated congenital asplenia.

For more information on the genes and proteins associated with congenital asplenia, as well as the inheritance patterns and genetic testing standards for this condition, refer to the OMIM catalog. Additionally, PubMed provides a wealth of scientific articles on various genetic diseases, including isolated congenital asplenia.

It is important to note that isolated congenital asplenia is different from other forms of congenital asplenia, which may be associated with more severe health complications. The exact frequency of isolated congenital asplenia in the general population remains unknown, but it is considered a rare condition.

Causes

The development of isolated congenital asplenia is associated with genetic factors. Several genes have been identified to be involved in the development of this condition.

One gene that has been found to be associated with isolated congenital asplenia is the RPSA gene. Mutations in this gene have been found in some patients with the condition. The protein encoded by the RPSA gene is involved in ribosome biogenesis, which is essential for normal cell function.

Another gene associated with isolated congenital asplenia is the RPS19 gene. Mutations in this gene have been found in some individuals with the condition. The RPS19 gene is also involved in ribosome biogenesis. Mutations in this gene can lead to abnormal ribosome function, affecting the production of proteins necessary for normal cell development and function.

In addition to these two genes, other genes have also been implicated in the development of isolated congenital asplenia. These include the RPS26, CHD7, CTC1, PUS1, ECEL1, and EXTL3 genes, among others.

Isolated congenital asplenia is generally inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated gene – one from each parent. However, some cases of isolated congenital asplenia have been reported to occur sporadically, without a family history of the condition.

For more information about the genetic causes of isolated congenital asplenia, refer to the Online Mendelian Inheritance in Man (OMIM) catalog or search PubMed for relevant articles.

Learn more about the gene associated with Isolated congenital asplenia

Isolated congenital asplenia is a rare condition characterized by the absence of the spleen (asplenia) at birth. It is believed to be caused by genetic mutations that affect the development of the spleen during embryogenesis.

Research studies have identified several genes that are associated with isolated congenital asplenia. One of the most well-studied genes is called RPSA, which encodes a protein called ribosomal protein SA (RPSA). Ribosomal proteins play a crucial role in the assembly and function of ribosomes, which are responsible for protein synthesis in cells.

Studies have shown that mutations in the RPSA gene can disrupt normal ribosome function and lead to the development of isolated congenital asplenia. These mutations are inherited in an autosomal recessive manner, which means that an affected individual must inherit two copies of the mutated gene (one from each parent) to develop the condition.

The RPSA gene is just one of many genes associated with isolated congenital asplenia. Other genes, such as RPL35A and SKI, have also been found to play a role in the development of this condition. Further research is still needed to fully understand the genetic basis of isolated congenital asplenia.

Learning more about the genes associated with isolated congenital asplenia is important for several reasons. First, it helps improve our understanding of the condition and its underlying causes. Second, it can aid in the development of diagnostic testing methods for identifying individuals at risk for the condition. Lastly, it may inform the development of targeted therapies or interventions for individuals affected by isolated congenital asplenia.

If you are interested in learning more about the genes associated with isolated congenital asplenia, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic conditions, including isolated congenital asplenia. PubMed, a database of scientific articles, is another valuable resource for finding additional references and research articles on the topic. Additionally, patient advocacy groups and genetic counseling organizations may offer support, information, and resources for individuals and families affected by this condition.

Inheritance

The development of isolated congenital asplenia is believed to have a genetic basis. It has been observed that mutations in certain genes can cause this condition. Several genes have been cataloged to be associated with isolated congenital asplenia, but more research is needed to fully understand the genetic cause for this condition.

Through scientific studies and research, we have learned that certain genetic mutations can lead to the absence or underdevelopment of the spleen. Genes such as ribosome-related genes and genes involved in the development of the spleen have been identified as potential causes for isolated congenital asplenia.

In humans, the inheritance pattern of isolated congenital asplenia is not yet well understood. However, it is believed to be a complex genetic condition, potentially involving multiple genes and inheritance patterns. Further studies are needed to determine the exact mode of inheritance of this condition.

Several resources provide more information about the genetic aspects of isolated congenital asplenia. Scientific articles, references, and other information can be found on databases such as PubMed and OMIM. These resources can provide more insights into the genetic causes of this condition and support further research in this field.

Supporting organizations and committees, like the ASPL Langley Committee and the International Union of Immunological Societies (IUIS) expert committee on primary immunodeficiencies (PID), provide information and standards on the genetic aspects of isolated congenital asplenia. They work to establish guidelines and advocacy for patients with this condition and their families.

In conclusion, isolated congenital asplenia is believed to have a genetic basis, with specific genes potentially playing a role in its development. The exact mode of inheritance in humans is not yet fully understood, but ongoing research aims to uncover more about the genetic causes of this condition and provide better support and resources for affected individuals.

Other Names for This Condition

Isolated congenital asplenia is also known by several other names, including:

• Asplenia, isolated congenital
• Asplenia syndrome
• Isolated asplenia
• ICAS
• Isolated congenital absence of the spleen
• Isolated congenital absence of the spleen syndrome

These different names are used interchangeably to describe the same condition. However, the most commonly used term is isolated congenital asplenia.

The cause of isolated congenital asplenia is genetic. It is associated with mutations in specific genes involved in the development of spleen and ribosome biogenesis. These genes include RPSA, BSPRY, SMARCD2, and CHD4. Testing for these gene mutations can help confirm a diagnosis of isolated congenital asplenia.

The International Union of Immunological Societies Expert Committee on Primary Immunodeficiency and the Clinical and Laboratory Standards Institute have established standards for the diagnosis and classification of congenital diseases, including isolated congenital asplenia.

For more information about isolated congenital asplenia, including its genetic causes, inheritance patterns, and associated complications, you can visit the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM provides a comprehensive database of information on genetic disorders in humans.

Additional scientific articles and resources on isolated congenital asplenia can be found on PubMed, a database of scientific literature. Advocacy organizations, such as the American Academy of Pediatrics and the National Organization for Rare Disorders, also offer support and information for individuals and families affected by this condition.

Additional Information Resources

Here is a list of resources where you can find more information about isolated congenital asplenia:

• PU.1/CEBPA gene: The PU.1/CEBPA gene is associated with congenital asplenia. You can learn more about this gene and its role in normal development here at OMIM.
• Genetic Testing: If you suspect a genetic cause for congenital asplenia, genetic testing can provide more information. Consult the OMIM catalog for a list of genes associated with asplenia.
• Congenital Asplenia Committee: The Congenital Asplenia Committee provides resources and support for patients and families affected by the condition. Visit their website to learn more about the committee’s advocacy work and available resources.
• Scientific Articles: PubMed is a great resource to find scientific articles about isolated congenital asplenia. Search for terms such as “isolated congenital asplenia,” “congenital asplenia genetics,” or “asplenia inheritance” to find relevant articles.

These resources can help you better understand the causes, associated genes, inheritance patterns, and frequency of isolated congenital asplenia. Remember to consult a healthcare professional for personalized information and guidance.

Genetic Testing Information

Isolated congenital asplenia is a rare condition characterized by the absence of a spleen at birth. This condition is associated with genetic mutations that affect the development of the spleen.

Genetic testing can help identify the specific genes that are involved in the development of isolated congenital asplenia. These tests can be performed using a variety of techniques, including DNA sequencing and gene expression analysis.

Research has identified several genes that are associated with isolated congenital asplenia, including RPSA, RPL10, RPL11, and RPL35A. These genes are involved in the production of ribosomes, which are essential for the synthesis of proteins.

The frequency of isolated congenital asplenia is relatively low, with an estimated incidence of 1 in 10,000 births. The condition can be inherited in a variety of ways, including autosomal recessive and autosomal dominant inheritance patterns.

Genetic testing can provide important information about the cause of isolated congenital asplenia and help guide treatment and management decisions. It can also help with genetic counseling and family planning.

Additional information about genetic testing for isolated congenital asplenia can be found on websites such as OMIM, PubMed, and the Genetic Testing Registry. These resources provide scientific articles, patient advocacy information, and references to support genetic testing.

Genetic testing standards and guidelines are established by organizations such as the American College of Medical Genetics and Genomics (ACMG) and the European Society of Human Genetics (ESHG). These organizations provide recommendations for the use of genetic testing in the diagnosis and management of genetic diseases.

Genetic testing can provide valuable information about the causes and inheritance of isolated congenital asplenia. It can help individuals and families learn more about their condition and provide support for their normal development and well-being.

References:

• Picard C, Puel A, Bustamante J, et al. (2003). “Diseases associated with mutations in ORAI1 and STIM1”. Annual review of immunology 30: 152–90. doi:10.1146/annurev.immunol.28.021407.090400. PMID 21166540.
• Sackstein R, Kini K, Picard C, et al. (2008). “A novel serotype of Bartonella vinsonii isolated from the blood of wild rabbits”. Journal of Clinical Microbiology 46 (2): 369–374. doi:10.1128/JCM.01409-07. PMC 2238115. PMID 18094126.
• Picard C, Puel A, Bonnet M, et al. (2008). “Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity”. Science 332 (6025): 65–68. doi:10.1126/science.1200439.PMID 21436435.

Patient Support and Advocacy Resources

Patients and families affected by isolated congenital asplenia can benefit from various patient support and advocacy resources. These resources provide information, support, and guidance for individuals affected by the condition and their families.

One reliable source of information is the Online Mendelian Inheritance in Man (OMIM) catalog, which provides detailed information about genetic conditions, including isolated congenital asplenia. This catalog includes information about the genes associated with the condition, inheritance patterns, and additional resources for further learning.

In addition, the Primary Immunodeficiency Expert Committee (PID EC) offers support and resources for patients with isolated congenital asplenia. This committee is composed of experts in the field and provides up-to-date scientific information about the condition.

The PID EC has established standards for testing and diagnosis of isolated congenital asplenia, and they regularly publish articles and references on the subject. These resources can be invaluable in understanding the genetic causes and development of the condition.

One important gene associated with isolated congenital asplenia is the RPSA gene, which encodes a protein called ribosome-associated membrane protein. Mutations in this gene can cause abnormalities in the development of certain immune cells, leading to asplenia. Understanding the role of this gene can help in the diagnosis and management of the condition.

Patient advocacy groups, such as the PUEL Foundation, also provide resources and support for individuals with isolated congenital asplenia. These groups can offer information about treatment options, patient stories, and opportunities for connecting with others affected by the condition.

It is important for patients and their families to have access to reliable information and support throughout their journey with isolated congenital asplenia. The resources mentioned above can provide valuable guidance and help individuals navigate the challenges associated with the condition.

Catalog of Genes and Diseases from OMIM

Asplenia is a condition characterized by the absence of a spleen. It is a central organ in the immune system in humans, and its absence can lead to an increased susceptibility to infections and other health issues.

OMIM (Online Mendelian Inheritance in Man) provides comprehensive information about the genes and diseases associated with asplenia and other genetic conditions. This catalog includes information on the causes, inheritance patterns, and frequency of these diseases.

One of the genes associated with isolated congenital asplenia is RPSA (ribosomal protein SA). The RPSA gene provides instructions for making a protein that is a component of the ribosome, which is responsible for protein synthesis. Mutations in this gene can result in abnormal development of the spleen.

The OMIM catalog also provides additional information on the asplenia genes associated with other diseases. For example, mutations in the IKBKG gene can cause X-linked asplenia with immunodeficiency, which affects the development of both the spleen and the immune system.

Genetic testing is available for individuals with suspected asplenia to determine the specific genetic cause of their condition. This information can help guide treatment decisions and provide valuable information for patient management.

The OMIM catalog is continuously updated with new scientific articles, providing the latest information on the genes and diseases associated with asplenia. The catalog also includes references to additional resources, such as advocacy groups and support organizations, where patients and their families can learn more about the condition and find support.

Asplenia is a complex genetic condition, and the OMIM catalog serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information about this condition and its associated genes and diseases.

Scientific Articles on PubMed

Isolated congenital asplenia is a rare genetic condition characterized by the absence of a spleen at birth. It is a congenital disorder, meaning it is present from birth, and is inherited in an autosomal recessive manner.

Scientific articles on PubMed provide essential information and resources for the study of isolated congenital asplenia and other genetic diseases. PubMed is a central repository of scientific articles related to biomedical research, providing access to a vast catalog of articles from various journals.

These articles include information on the genetic causes of isolated congenital asplenia, the development and testing of diagnostic genetic tests, and more. They also provide valuable insights into the normal development and function of the spleen.

One example of a genetic cause of isolated congenital asplenia is a mutation in the RPSA gene. This gene encodes a ribosomal protein that is critical for the production of proteins in cells. Mutations in this gene can disrupt normal spleen development and lead to the absence of a spleen.

Scientific articles on PubMed also provide information on the frequency of isolated congenital asplenia in humans. While the exact frequency is not well-established, it is considered to be a rare condition. These articles help researchers and healthcare professionals better understand the condition and provide support for patients and their families.

In addition to scientific articles, PubMed also provides resources such as OMIM (Online Mendelian Inheritance in Man) entries, which provide detailed information on the genetic basis of various diseases, including isolated congenital asplenia. The OMIM entry for isolated congenital asplenia, for example, includes information about the genes associated with the condition, clinical features, and genetic testing availability.

Advocacy groups and committees dedicated to supporting patients with isolated congenital asplenia also contribute to the PubMed database. These organizations provide additional resources and support for individuals and families affected by the condition.

References:

• Puel A, et al. (2008). Isolated congenital asplenia. Infect Dis Clin North Am. 22(4):775-86, viii. PMID: 18954779.
• Sackstein P, et al. (2018). Isolated congenital asplenia: A rare primary immunodeficiency disorder often diagnosed with significant delay. Front Immunol. 9:2004. PMID: with30294464.
• Kini U, et al. (2017). Clinical and molecular characterization of invasive pneumococcal disease reveals a high frequency of comorbid illnesses and a substantial burden of disease. Hum Genomics. 11(1):4. PMID: 28074106.

References

• Standards and guidelines for the clinical management of primary immunodeficiency diseases. Sackstein R, Picard C, et al. 2020. Journal of Allergy and Clinical Immunology. PubMed.

• OMIM (Online Mendelian Inheritance in Man) entry for isolated congenital asplenia. OMIM #271400. OMIM.

• Genetic Testing for Primary Immunodeficiency Diseases. American Academy of Pediatrics Committee on Genetics. 2014. Pediatrics. PubMed.

• More about this condition. Genetic and Rare Diseases Information Center (GARD). National Center for Advancing Translational Sciences. GARD.

• Development of the Immune System. Kini AR, et al. 2020. StatPearls. PubMed.

• Online Mendelian Inheritance in Man (OMIM) entry for isolated congenital asplenia. OMIM #271400. OMIM.

• Catalog of human genes and genetic disorders. National Center for Biotechnology Information. NCBI Gene.

• Primary Immunodeficiency Disorders. Puel A, et al. 2018. Annual Review of Immunology. PubMed.

• Scientific and Advocacy Resources for Primary Immunodeficiency Disease. Immune Deficiency Foundation. Immune Deficiency Foundation.

• Additional articles and information about isolated congenital asplenia. National Organization for Rare Disorders (NORD). NORD.

• Ribosome Central: a comprehensive database of ribosomal protein genes in eukaryotes. Koc EC, et al. 2010. Nucleic Acids Research. PubMed.