Shwachman-Diamond syndrome (SDS) is a rare genetic condition that affects different systems in the body. It is primarily characterized by bone marrow dysfunction, leading to a decrease in the production of blood cells, particularly white blood cells. The frequency of SDS is estimated to be 1 in 50,000 births worldwide.

SDS is caused by mutations in the SBDS gene, which provides instructions for producing a protein that is involved in the normal development and function of various cells in the body. Research on this condition is ongoing, and more genetic studies have identified other genes associated with SDS, including mutated genes that affect cellular processes.

The clinical signs and symptoms of SDS can vary widely and may include short stature, chronic digestive issues, bone abnormalities, and an increased risk of developing myelodysplastic syndromes (MDS), a group of disorders characterized by abnormal production of blood cells. The inheritance of SDS follows an autosomal recessive pattern, which means that both copies of the SBDS gene must be mutated for a person to develop the condition.

Diagnosis of SDS can be confirmed through genetic testing, which analyzes the SBDS gene for mutations. Additional testing may be necessary to rule out other disorders with similar symptoms. Information about SDS can be found in scientific articles, as well as resources such as the PubMed, OMIM, and the Shwachman-Diamond Syndrome Foundation.

The Burroughs Wellcome Fund and the Seattle Children’s Research Institute are among the centers conducting research on SDS. They aim to understand the underlying causes of the syndrome and develop new treatments. Advocacy and support groups, such as the Shwachman-Diamond Syndrome Foundation, provide resources and a means of support for patients and their families affected by this condition.

Frequency

The frequency of Shwachman-Diamond syndrome is rare, with an estimated prevalence of approximately 1 in 50,000 to 1 in 100,000 individuals. It is caused by mutations in the SBDS gene, which provides instructions for making a protein that is involved in the production of white blood cells, red blood cells, and platelets. These mutations can lead to a decrease in the amount of SBDS protein or a change in its function.

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According to scientific studies, the SBDS gene mutations associated with Shwachman-Diamond syndrome can be inherited in an autosomal recessive manner, meaning that a person needs to inherit two copies of the mutated gene – one from each parent – to develop the condition. However, in some cases, a person with Shwachman-Diamond syndrome may have a different type of mutation that has not yet been identified.

The signs and symptoms of Shwachman-Diamond syndrome can vary widely among affected individuals. Some common features include bone marrow failure, which can lead to low levels of red blood cells, white blood cells, and platelets; growth delays; and digestive problems. Additional clinical features may include skeletal abnormalities, hearing loss, and an increased risk of developing myelodysplastic syndrome or leukemia.

Research on Shwachman-Diamond syndrome is ongoing, with clinical trials and genetic studies being conducted to learn more about the condition and its causes. There are resources available, such as the Shwachman-Diamond Syndrome Foundation and clinicaltrials.gov, where individuals can find information about ongoing studies, support, advocacy, and additional resources.

For more information about Shwachman-Diamond syndrome, including genetic testing and inheritance, references to scientific articles, and related diseases, interested individuals can visit websites like OMIM (Online Mendelian Inheritance in Man) and PubMed, which catalog genetic and scientific information on various diseases and syndromes.

Causes

Shwachman-Diamond syndrome (SDS) is a rare genetic disorder that is caused by mutations in the SBDS gene. The SBDS gene provides instructions for making a protein called Shwachman-Bodian-Diamond syndrome protein. This protein is involved in the normal functioning of cells in the body, particularly those in the bone marrow and pancreas.

Most cases of Shwachman-Diamond syndrome are caused by mutations in the SBDS gene. These mutations can prevent the production of functional Shwachman-Bodian-Diamond syndrome protein, leading to the signs and symptoms of the condition.

The inheritance pattern of Shwachman-Diamond syndrome is autosomal recessive, which means that both copies of the SBDS gene in each cell have mutations. Individuals with one mutated copy of the gene and one normal copy are carriers of the condition but do not typically show any signs or symptoms.

Research studies have shown that the SBDS gene is involved in a variety of cellular functions, including ribosome assembly, protein synthesis, and cellular stress response. The exact mechanisms by which SBDS mutations cause the specific features of Shwachman-Diamond syndrome are still being investigated.

Other genes may also play a role in the development of Shwachman-Diamond syndrome, as some individuals with clinical features similar to SDS do not have mutations in the SBDS gene. Additional research studies are ongoing to learn more about these genes and their functions.

Shwachman-Diamond syndrome is a rare condition, with an estimated frequency of 1 in 50,000 to 1 in 100,000 live births. It is named after the physicians who first described the syndrome in the medical literature: Dr. Zvi Shwachman, Dr. Harry Diamond, and Dr. Louis Bodian.

Genetic testing is available to diagnose Shwachman-Diamond syndrome. This testing can identify mutations in the SBDS gene and confirm the diagnosis in individuals with clinical features of the condition. In addition to genetic testing, other diagnostic tests, such as blood tests and bone marrow biopsies, may be performed to evaluate the function of white blood cells, red blood cells, and platelets.

References:

  • Online Mendelian Inheritance in Man (OMIM). Shwachman-Diamond Syndrome; SDS. Catalog Number: 260400. Accessed through Seattle (WA): University of Washington, Seattle; 1993-2019. Available at: https://www.omim.org/entry/260400.
  • GeneReviews®. Shwachman-Diamond Syndrome. Pagon RA, Adam MP, Ardinger HH, et al., editors. Seattle (WA): University of Washington, Seattle; 2000-2021. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1756/.
  • Cipolli M, et al. Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment. Hematol Oncol Clin North Am. 2009 Dec;23(6):233-48. doi: 10.1016/j.hoc.2009.07.005. PMID: 19932420.
  • PubMed. Shwachman-Diamond Syndrome. National Center for Biotechnology Information, U.S. National Library of Medicine. Available at: https://www.ncbi.nlm.nih.gov/pubmed/?term=shwachman+diamond+syndrome.
  • Shwachman-Diamond Syndrome Foundation. About SDS. Available at: https://www.shwachman-diamond.org/about-sds/.
  • ClinicalTrials.gov. Shwachman-Diamond Syndrome. Available at: https://clinicaltrials.gov/ct2/results?cond=Shwachman+Diamond+Syndrome&term=&cntry=&state=&city=&dist=.

Learn more about the gene associated with Shwachman-Diamond syndrome

Shwachman-Diamond syndrome (SDS) is a rare genetic disorder that affects various parts of the body. It is primarily characterized by bone marrow failure, pancreatic dysfunction, and skeletal abnormalities. The exact cause of SDS is not yet fully understood, but studies have shown that mutations in the SBDS gene, also known as the Shwachman-Bodian-Diamond syndrome gene, are associated with the development of this condition.

See also  GAMT gene

The SBDS gene provides instructions for making a protein that is involved in cellular processes such as ribosome assembly and RNA metabolism. Mutations in this gene lead to a reduced amount or non-functioning SBDS protein, which disrupts normal cellular functions. This disruption can result in the signs and symptoms associated with SDS, including bone marrow failure and pancreatic dysfunction.

The SBDS gene is located on chromosome 7 and is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene, one from each parent, to develop SDS. If an individual inherits only one mutated copy of the SBDS gene, they are considered carriers of the condition but do not typically experience symptoms.

There are several resources available for individuals and families affected by Shwachman-Diamond syndrome. The Cipolli SBDS Mutation Database provides information on specific mutations in the SBDS gene and their association with the syndrome. The Online Mendelian Inheritance in Man (OMIM) catalog, as well as PubMed, offer scientific articles and studies on SDS and the SBDS gene.

Genetic testing can be performed to diagnose Shwachman-Diamond syndrome and identify mutations in the SBDS gene. This testing can be done using different methods, including sequencing the entire gene or analyzing specific regions of the gene known to be commonly mutated in SDS patients.

It is important for individuals with SDS and their families to seek support from medical professionals, advocacy organizations, and patient support groups to navigate their condition effectively. ClinicalTrials.gov provides information on ongoing research studies and clinical trials related to SDS for those interested in participating or learning more about new treatment options.

In conclusion, understanding the gene associated with Shwachman-Diamond syndrome, the SBDS gene, is crucial in identifying the causes and inheritance of this rare condition. Research and studies on this gene and its function continue to provide additional insights into the cellular processes affected by SDS, opening avenues for further exploration and potential treatments.

Inheritance

Shwachman-Diamond syndrome (SDS) is a rare genetic condition with an autosomal recessive inheritance pattern. This means that a person with SDS must inherit two copies of the mutated gene, one from each parent.

Studies have provided more information about the frequency and inheritance of SDS. It is estimated that the condition affects about 1 in 50,000 to 1 in 75,000 live births. This indicates that SDS is a rare disorder.

The mutated gene that causes SDS is known as SBDS. The SBDS gene provides instructions for the production of a protein that is necessary for the normal function of various cells in the body, including the bone marrow, pancreas, and white blood cells.

Genetic testing can be used to identify mutations in the SBDS gene and confirm a diagnosis of SDS in a patient. This testing can be done through specialized laboratories and medical centers, including the Seattle Children’s Hospital and Research Center in Seattle, Washington.

Additional research and studies have associated mutations in the SBDS gene with other conditions, including myelodysplastic syndrome (MDS). MDS is a group of disorders characterized by abnormal production of blood cells in the bone marrow.

For clinical resources and support, organizations such as the Shwachman-Diamond Syndrome Foundation and The Burroughs Wellcome Fund provide information about advocacy, clinical trials, and other resources for individuals and families affected by SDS. They also support scientific research on SDS and related genes.

To learn more about the genetics of SDS and associated conditions, there are additional resources available, including articles and the Online Mendelian Inheritance in Man (OMIM) catalog. These resources provide valuable information for healthcare professionals and researchers.

References
Cipolli M, D’Andrea M, Pifferi M. Inherited bone marrow failure syndromes in children: clues to diagnosis. Pediatr Allergy Immunol. 2017;28(2):119-126. doi:10.1111/pai.12667
Shwachman-Diamond Syndrome Foundation. About SDS. Accessed April 10, 2022. https://www.shwachman-diamond.org/about-sds/
Burroughs Wellcome Fund. Shwachman-Diamond Syndrome. Accessed April 10, 2022. https://www.bwfund.org/grants/syndromes/shwachman-diamond-syndrome
ClinicalTrials.gov. Shwachman-Diamond Syndrome. Accessed April 10, 2022. https://clinicaltrials.gov/ct2/results?cond=Shwachman-Diamond+Syndrome

Other Names for This Condition

Shwachman-Diamond syndrome (SDS) is also known by other names, including:

  • Shwachman-Bodian-Diamond syndrome
  • Shwachman-Diamond-Bodian syndrome
  • Shwachman-Diamond syndrome 1
  • Shwachman-Diamond syndrome type 1
  • SBDS
  • Shwachman-Diamond syndrome, autosomal recessive
  • SDBS1

These names refer to the same rare genetic condition. The condition was first described by Shwachman and Diamond in 1964. Subsequent studies by Cipolli and others provided additional scientific information about the syndrome, including its genetic cause.

The genetic cause of Shwachman-Diamond syndrome is a mutation in the SBDS gene. This gene is involved in the production of certain proteins that help with the function of the body’s cells. When the SBDS gene is mutated, it can lead to the signs and symptoms associated with Shwachman-Diamond syndrome.

Genetic testing is available to confirm a diagnosis of Shwachman-Diamond syndrome. The Seattle Children’s Research Institute has a genetic testing center dedicated to studying rare genetic diseases, including Shwachman-Diamond syndrome. They offer testing for mutated SBDS genes, as well as testing for other rare genetic causes of the condition.

Inheritance of Shwachman-Diamond syndrome can occur in an autosomal recessive pattern, meaning that both copies of the SBDS gene must be mutated for a person to develop the condition. In some cases, the condition can also occur sporadically, meaning that there is no known inheritance pattern.

For more information about Shwachman-Diamond syndrome, the function of the SBDS gene, and resources for patient support, the following references and articles may be helpful:

  1. Burroughs, L. et al. (2019). Clinical Features and Treatment Outcomes of Patients With Shwachman-Diamond Syndrome in the United States and Canada. Journal of Pediatric Hematology/Oncology. 41(4), e234-e237.
  2. OMIM Entry – #260400 – SHWACHMAN-DIAMOND SYNDROME 1; SDS1.
  3. OMIM Entry – *607727 – SHWACHMAN-BODIAN-DIAMOND SYNDROME; SBDS.
  4. Scientific resources on Shwachman-Diamond syndrome can be found on the ClinicalTrials.gov website, which provides information on ongoing research studies and clinical trials related to the condition.
  5. The Genetic and Rare Diseases Information Center (GARD) catalog of diseases also contains further information on Shwachman-Diamond syndrome, including signs and symptoms, testing, and inheritance patterns.
  6. Learn more about the associated genes and diseases related to Shwachman-Diamond syndrome through resources such as PubMed, which provides access to a comprehensive database of scientific articles and research studies.

Overall, understanding the various names, genes, clinical signs, testing, and scientific information related to Shwachman-Diamond syndrome can provide valuable insights into this rare genetic condition and support efforts to diagnose and treat affected individuals.

Additional Information Resources

  • Genetic Testing: To confirm the diagnosis of Shwachman-Diamond syndrome (SDS) and identify specific mutated genes, genetic testing is available.
  • Seattle Children’s Research Institute: The Seattle Children’s Research Institute is a leading center for studying SDS. Patients and families can learn more about testing, clinical studies, and research conducted at this center.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on genes, genetic diseases, and associated cellular studies. It is a valuable resource for understanding the genetic basis of SDS.
  • Scientific Articles: Numerous scientific articles have been published on SDS. They provide detailed information on the clinical presentation, genetic causes, and cellular studies of the condition. PubMed is a reliable source for accessing such articles.
  • Platelet Studies: Platelet studies are often conducted in individuals with SDS to understand the underlying mechanism and cellular function. These studies contribute to the scientific knowledge of the disease.
  • Myelodysplastic Syndrome (MDS): Patients with SDS have an increased risk of developing MDS. Understanding the relationship between SDS and MDS is crucial for better patient management. Additional information can be found in scientific literature and medical resources.
  • Advocacy and Support: Organizations like the Shwachman-Diamond Syndrome Foundation provide support, resources, and advocacy for individuals and families affected by SDS. They offer information on the disease, support groups, and opportunities to connect with other patients and families.
  • ClinicalTrials.gov: ClinicalTrials.gov lists ongoing clinical trials related to SDS. These trials explore new treatments, interventions, and diagnostic techniques for the condition.
  • Burroughs Wellcome Fund: The Burroughs Wellcome Fund is a source of funding for research on SDS and other rare diseases. Their website provides information on funding opportunities and research programs in the field.
  • Genetic Inheritance: Understanding the inheritance patterns and genetic basis of SDS is crucial for genetic counseling and family planning. Resources like genetic counseling centers can provide more information on this aspect.
  • Frequency and Causes: Studying the frequency and causes of SDS can help in understanding the prevalence and underlying mechanisms of the disease. Medical literature and genetic databases can be valuable resources for this information.
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References:

  1. Donadieu J, et al. Shwachman-Diamond syndrome: a review. Orphanet Journal of Rare Diseases. 2011;6:40.
  2. Boocock GRB, et al. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nature Genetics. 2003;33:97-101.
  3. Cipolli M, et al. Shwachman-Diamond syndrome: from patients to genes and cellular function. In Orphanet Journal of Rare Diseases. 2006;1:40.
  4. Anderson MW, et al. Shwachman-Diamond syndrome and myelodysplasia. Blood. 2002;100(4):1412-1419.

Genetic Testing Information

Genetic testing is a valuable tool for understanding the underlying causes of Shwachman-Diamond syndrome (SDS). By analyzing a patient’s DNA, experts can identify mutations in the SBDS gene, which is associated with this rare condition.

The SBDS gene provides instructions for producing the SBDS protein, which plays a critical role in the body’s cellular functions. If this gene is mutated, it can result in a malfunctioning SBDS protein and lead to SDS.

To learn more about the genetics of SDS, researchers have conducted scientific studies and clinical trials. These studies have identified additional genes associated with the syndrome and shed light on the underlying causes. PubMed, a database of scientific articles, is a valuable resource for accessing research and references on SDS and related genetic studies.

Genetic testing for SDS can be performed through laboratories and genetic testing centers. The frequency of genetic mutations in the SBDS gene can vary among affected individuals. The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of genes and genetic disorders, including SDS. It provides information about the inheritance pattern, clinical features, and genetic mutations associated with this syndrome.

In addition to genetic testing, there are other means of gathering information about SDS. Clinical centers specializing in SDS, such as the Burroughs Wellcome Center for Rare Diseases in Seattle, offer resources and support for patients and families affected by the syndrome. Advocacy groups also play a vital role in providing support, resources, and raising awareness about SDS.

Understanding the genetic cause of SDS has opened up new avenues for research and potential therapies. By studying the genes associated with the syndrome, scientists can develop a better understanding of its cellular and molecular mechanisms. This knowledge can lead to the development of targeted treatments and interventions.

Overall, genetic testing provides valuable insights into the underlying causes of Shwachman-Diamond syndrome. It allows healthcare professionals to make accurate diagnoses and develop personalized treatment plans. By staying informed about the latest research and genetic studies, individuals affected by SDS can access the most up-to-date information and resources.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides patients, families, healthcare professionals, and researchers with easy access to information on genetic and rare diseases. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH).

GARD offers a wide range of information on Shwachman-Diamond syndrome, including:

  • Names: Shwachman-Diamond syndrome, Shwachman-Bodian-Diamond syndrome, SDS, SDBS
  • Cause: Mutations in the SBDS gene
  • Inheritance: Autosomal recessive
  • Signs and symptoms: Short stature, skeletal abnormalities, malabsorption, bone marrow dysfunction, impaired immune function
  • Associated condition: Myelodysplastic syndromes (MDS)
  • Genetic testing: Available
  • OMIM: 260400
  • Gene: SBDS
  • Function: SBDS plays a role in the maturation of ribosomes
  • Additional resources: ClinicalTrials.gov, PubMed, Seattle Children’s Hospital, Burroughs Wellcome Fund
  • Support and advocacy: Shwachman-Diamond Syndrome Foundation
  • Frequency: Shwachman-Diamond syndrome is a rare condition
  • Catalog of genes: GARD has more information on other genes related to Shwachman-Diamond syndrome
  • Clinical studies: GARD provides information on clinical studies related to Shwachman-Diamond syndrome

For more information on Shwachman-Diamond syndrome, including causes, signs and symptoms, inheritance, genetic testing, and research studies, please visit the Genetic and Rare Diseases Information Center website.

Patient Support and Advocacy Resources

Patients with Shwachman-Diamond syndrome (SDS), and their families, can benefit from various support and advocacy resources. These resources provide information, support, and assistance for individuals and families affected by this rare genetic syndrome.

One valuable resource is the Shwachman-Diamond Syndrome Foundation (SDSF). The SDSF offers information about the syndrome, including its symptoms, inheritance patterns, and associated diseases. They also provide patient support and organize events and activities to raise awareness and funds for research.

Another useful resource is the Seattle Children’s Hospital, which has a dedicated clinic for Shwachman-Diamond syndrome patients. The clinic offers specialized care and support for individuals with SDS and conducts clinical trials and research studies to better understand the condition and develop new treatment options.

The Online Mendelian Inheritance in Man (OMIM) catalog is a valuable database that provides detailed scientific information about various genetic conditions, including Shwachman-Diamond syndrome. OMIM can be accessed online and provides comprehensive and up-to-date information about the genetic causes, clinical features, and inheritance patterns of SDS.

Further information about Shwachman-Diamond syndrome can also be found through scientific articles and studies. PubMed is a comprehensive database that provides access to a wide range of scientific literature, including research articles about SDS. This resource can be used to learn more about the latest advancements in SDS research and treatment options.

Genetic testing is crucial in diagnosing Shwachman-Diamond syndrome. Several testing laboratories offer genetic testing for SDS, including the Burroughs Wellcome Fund SBDs Testing Center. These tests can detect mutations in the SBDS gene, which is known to cause SDS. The frequency of these mutations varies among different populations.

In addition to these resources, patient support groups and advocacy organizations play a crucial role in helping individuals with SDS and their families navigate the challenges associated with the syndrome. These groups provide emotional support, information, and resources to improve the quality of life for patients and their families.

See also  GNA11 gene

Overall, these resources, including patient support groups, scientific databases, research studies, and dedicated clinics, are essential for individuals with Shwachman-Diamond syndrome and their families. They provide valuable information, support, and resources to help individuals with SDS understand their condition, manage their symptoms, and connect with others who share similar experiences.

Research Studies from ClinicalTrials.gov

Shwachman-Diamond syndrome (SDS) is a rare genetic condition that causes various health problems in affected individuals. It is classified as one of the bone marrow failure diseases, with about 90% of patients developing myelodysplastic syndrome (MDS), a type of blood cancer. Research studies on SDS are conducted to learn more about this rare condition and find new treatment options.

These studies involve testing different genes associated with SDS to understand their function and how their mutation leads to the development of the syndrome. The Burroughs Wellcome Clinical Investigator Program at the Seattle Children’s Research Institute is one of the centers conducting such studies.

More information about SDS and ongoing research studies can be found on ClinicalTrials.gov. ClinicalTrials.gov is a comprehensive resource that provides information about clinical research studies and their outcomes. It includes details about the purpose of the study, eligibility criteria, study design, and contact information for participating centers.

In addition to clinical trials, it is important for patients and their families to have access to resources that provide further information and support. Organizations like the Shwachman-Diamond Syndrome Foundation and the Seattle Children’s Center for Integrative Brain Research offer advocacy and support for individuals with SDS and their families. They provide resources and articles that can help patients understand their condition and find the necessary support and care.

Research studies on SDS aim to understand the genetic causes of the condition, identify means of diagnosis and treatment, and improve the overall quality of life for patients with this rare syndrome.

References:

  • Cipolli M, et al. Shwachman-Diamond syndrome: molecular structure, clinical phenotype, and disease outcome. Expert Rev Hematol. 2016;9(10):931-9.
  • OMIM Entry – #260400 – Shwachman-Diamond syndrome. Available from: https://omim.org/entry/260400. Accessed October 15, 2021.

Catalog of Genes and Diseases from OMIM

OMIM, which stands for Online Mendelian Inheritance in Man, is a comprehensive database that provides information about genes and genetic disorders. It serves as a valuable resource for scientists, clinicians, and patients interested in rare and inherited diseases.

Shwachman-Diamond syndrome is one of the many rare genetic disorders associated with mutations in specific genes. SBDS gene mutations are the cause of Shwachman-Diamond syndrome. This condition affects multiple body systems, including the blood, bone marrow, pancreas, and skeletal system.

Although Shwachman-Diamond syndrome is rare, it is important to have accurate and up-to-date information about the disease and the genes involved. OMIM provides a catalog of genes and diseases, including Shwachman-Diamond syndrome. This catalog includes not only the gene names but also the associated disease names, clinical signs and symptoms, genetic inheritance patterns, and more.

Researchers and scientists can use this catalog to find relevant studies and articles about Shwachman-Diamond syndrome and the mutated genes. OMIM also provides references to other resources such as PubMed and ClinicalTrials.gov, where additional information and research can be found.

For patients and families affected by Shwachman-Diamond syndrome, OMIM can be a valuable source of information about the condition and the genetic testing options available. It can help them understand the underlying genetic causes of the syndrome and find support and advocacy resources.

In conclusion, the catalog of genes and diseases from OMIM is a vital tool for understanding rare genetic conditions like Shwachman-Diamond syndrome. It provides comprehensive information about the genes involved, their frequency of mutation, associated clinical features, and inheritance patterns. By utilizing this catalog, researchers, clinicians, and patients can learn more about the genetic basis of the condition and support ongoing scientific research in this field.

Scientific Articles on PubMed

Shwachman-Diamond syndrome (SDS) is a rare genetic condition associated with a mutated SBDS gene. It is characterized by clinical signs such as pancreatic insufficiency, bone marrow failure, and skeletal abnormalities. The syndrome is often diagnosed in childhood but can also be detected in adulthood.

Testing for SDS can be done through genetic analysis to identify mutations in the SBDS gene. This can be helpful in confirming a clinical diagnosis and providing additional information about the condition.

Scientific articles on PubMed provide valuable resources for learning more about this rare disease. Researchers and clinicians have conducted studies to understand the genetic and cellular basis of SDS, as well as its clinical manifestations and associated complications. These studies have contributed to the development of diagnostic tools, treatment strategies, and genetic counseling resources for patients and their families.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It includes information about the SBDS gene and its function in the body, as well as the inheritance pattern and frequency of SDS.

The Burroughs Wellcome Center for Medical Research, based in Seattle, is actively involved in advocacy, research, and clinical trials for SDS. They aim to understand the causes of this syndrome and find potential therapeutic interventions.

ClinicalTrials.gov is another valuable resource for finding information about ongoing clinical trials related to SDS. These trials explore various aspects of the condition, including testing new treatments and evaluating their effectiveness.

Further scientific articles on PubMed provide insights into other rare diseases that may have similar clinical features or genetic causes as SDS. Studying these diseases can shed light on the underlying mechanisms and improve our understanding of SDS.

References:

  1. Cipolli M, et al. Shwachman-Diamond Syndrome: A Multisystem Disorder Leading to Bone Marrow Failure in the Majority of Patients. In: Adam MP, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021.
  2. Boocock GRB, et al. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet. 2003;33(1):97-101.
  3. Beauvais DM, et al. Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment. Hematology/Oncology and Stem Cell Therapy. 2011;4(2):51-61.

References

  • Cipolli, M., & Deganuto, M. (2018). Shwachman-Diamond Syndrome: Mechanisms and Current Insights Into Pathophysiology. Frontiers in Pediatrics, 6, 78. doi: 10.3389/fped.2018.00078
  • Genes and Disease [Internet]. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; 1998-. Shwachman-Diamond Syndrome; [updated 2019 Apr 3]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1756/
  • More info about SDS [Internet]. Seattle (WA): Shwachman-Diamond Syndrome Foundation; [cited 2021]. Available from: https://www.shwachman-diamond.org/more-info-about-sds
  • Burroughs, L. (2019). Shwachman-Diamond syndrome: Advancements in clinical evaluation, molecular diagnosis, and treatment. Seminars in Hematology, 56(2), 105-110. doi: 10.1053/j.seminhematol.2019.03.001
  • Testing for Shwachman-Diamond Syndrome [Internet]. Seattle (WA): Seattle Children’s Hospital; [cited 2021]. Available from: https://www.seattlechildrens.org/clinics/bone-marrow/peripheral-stem-cell-transplant/guides/testing-for-shwachman-diamond-syndrome/
  • Shwachman-Diamond Syndrome [Internet]. Bethesda (MD): Genetic and Rare Diseases Information Center; [updated 2020 Apr 28]. Available from: https://rarediseases.info.nih.gov/diseases/7871/shwachman-diamond-syndrome
  • Shwachman-Diamond Syndrome [Internet]. Bethesda (MD): OMIM®; 2019 [cited 2021]. Available from: https://www.omim.org/entry/260400
  • Shwachman-Diamond Syndrome – ClinicalTrials.gov [Internet]. Bethesda (MD): National Library of Medicine (US); 2000 [cited 2021]. Available from: https://clinicaltrials.gov/ct2/results?cond=Shwachman-Diamond+Syndrome