Shwachman-Diamond syndrome

Common Name(s)

Shwachman-Diamond syndrome

Shwachman-Diamond syndrome is an inherited condition that affects many parts of the body, particularly the bone marrow, pancreas, and skeletal system. About 90% of cases of Shwachman-Diamond syndrome are caused by mutations in the SBDS gene. In cases where no SBDS mutation is found, the cause of this disorder is unknown. This condition is inherited in an autosomal recessive manner. Treatment may include enzyme and vitamin supplementation, blood and/or platelet transfusion, administration of granulocyte-colony stimulating factor (G-CSF), and/or hematopoietic stem cell transplantation.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Shwachman-Diamond syndrome" for support, advocacy or research.

Shwachman Diamond Syndrome Foundation

Our organization's mission is to advocate and support research towards a cure and improve medical management of symptoms, educate the medical community and general public about Shwachman Diamond Syndrome, provide emotional support to patients and their families, link families through medical/family conferences to share experiences and ideas disseminate current medical information, and support an international patient registry and international medical conferences.

Last Updated: 29 Apr 2014

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Shwachman-Diamond syndrome" for support, advocacy or research.

Shwachman Diamond Syndrome Foundation

Our organization's mission is to advocate and support research towards a cure and improve medical management of symptoms, educate the medical community and general public about Shwachman Diamond Syndrome, provide emotional support to patients and their families, link families through medical/family conferences to share experiences and ideas disseminate current medical information, and support an international patient registry and international medical conferences.

http://www.shwachman-diamond.org

Last Updated: 29 Apr 2014

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Shwachman-Diamond syndrome" returned 35 free, full-text research articles on human participants. First 3 results:

Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.
 

Author(s): Claudia M B Carvalho, Luciana W Zuccherato, Christopher L Williams, Nicholas J Neill, David R Murdock, Matthew Bainbridge, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, Wan Ip, Robert Paul Guillerman, James R Lupski, Alison A Bertuch

Journal:

 

Shwachman-Diamond syndrome (SDS) is an autosomal recessive ribosomopathy caused mainly by compound heterozygous mutations in SBDS. Structural variation (SV) involving the SBDS locus has been rarely reported in association with the disease. We aimed to determine whether an SV contributed ...

Last Updated: 16 Jun 2014

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Pluripotent stem cell models of Shwachman-Diamond syndrome reveal a common mechanism for pancreatic and hematopoietic dysfunction.
 

Author(s): Asmin Tulpule, James M Kelley, M William Lensch, Jade McPherson, In Hyun Park, Odelya Hartung, Tomoka Nakamura, Thorsten M Schlaeger, Akiko Shimamura, George Q Daley

Journal: Cell Stem Cell. 2013 Jun;12(6):727-36.

 

Shwachman-Diamond syndrome (SDS), a rare autosomal-recessive disorder characterized by exocrine pancreatic insufficiency and hematopoietic dysfunction, is caused by mutations in the Shwachman-Bodian-Diamond syndrome (SBDS) gene. We created human pluripotent stem cell models of SDS ...

Last Updated: 10 Jun 2013

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Impaired ribosomal subunit association in Shwachman-Diamond syndrome.
 

Author(s): Nicholas Burwick, Scott A Coats, Tomoka Nakamura, Akiko Shimamura

Journal: Blood. 2012 Dec;120(26):5143-52.

 

Shwachman-Diamond syndrome (SDS) is an autosomal-recessive marrow failure syndrome with a predisposition to leukemia. SDS patients harbor biallelic mutations in the SBDS gene, resulting in low levels of SBDS protein. Data from nonhuman models demonstrate that the SBDS protein facilitates ...

Last Updated: 21 Dec 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Shwachman-Diamond syndrome" returned 9 free, full-text review articles on human participants. First 3 results:

[Pediatric Shwachman-diamond syndrome: report on 5 cases and literature review].
 

Author(s): Xian-Hao Wen, Jian-Wen Xiao, Jie Yu, Ying Xian, Xian-Min Guan, Yu-Xia Guo

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2013 Nov;15(11):970-4.

 

Last Updated: 15 Nov 2013

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Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome.
 

Author(s): Nicholas Burwick, Akiko Shimamura, Johnson M Liu

Journal: Semin. Hematol.. 2011 Apr;48(2):136-43.

 

A number of human disorders, dubbed ribosomopathies, are linked to impaired ribosome biogenesis or function. These include but are not limited to Diamond Blackfan anemia (DBA), Shwachman Diamond syndrome (SDS), and the 5q- myelodysplastic syndrome (MDS). This review focuses on the ...

Last Updated: 25 Mar 2011

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Clinical spectrum and molecular pathophysiology of Shwachman-Diamond syndrome.
 

Author(s): James N Huang, Akiko Shimamura

Journal: Curr. Opin. Hematol.. 2011 Jan;18(1):30-5.

 

Shwachman-Diamond syndrome (SDS) is an inherited bone marrow failure and cancer predisposition syndrome that affects multiple organ systems. Mutations in the Shwachman-Bodian-Diamond syndrome (SBDS) gene are found in the majority of patients, but the molecular function of the SBDS ...

Last Updated: 27 Mar 2014

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Abatacept Reduced Intensity for Non-Malignant Diseases
 

Status: Recruiting

Condition Summary: Hurler Syndrome; Fanconi Anemia; Glanzmann Thrombasthenia; Wiskott-Aldrich Syndrome; Chronic Granulomatous Disease; Severe Congenital Neutropenia; Leukocyte Adhesion Deficiency; Shwachman Diamond Syndrome; Diamond Blackfan Anemia; Dyskeratosis Congenita; Chediak Higashi Syndrome; Severe Aplastic Anemia; Thalassemia; Hemophagocytic Lymphohistiocytosis

 

Last Updated: 16 Sep 2014

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Stem Cell Transplant for Hemoglobinopathy
 

Status: Recruiting

Condition Summary: Sickle Cell Disease; Thalassemia; Severe Congenital Neutropenia; Diamond-Blackfan Anemia; Shwachman-Diamond Syndrome

 

Last Updated: 15 May 2014

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CD34+ Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation for Non-Malignant Disease
 

Status: Recruiting

Condition Summary: Bone Marrow Failure Syndrome; Severe Aplastic Anemia; Severe Congenital Neutropenia; Amegakaryocytic Thrombocytopenia; Diamond-Blackfan Anemia; Schwachman Diamond Syndrome; Primary Immunodeficiency Syndromes; Acquired Immunodeficiency Syndromes; Histiocytic Syndrome; Familial Hemophagocytic Lymphocytosis; Lymphohistiocytosis; Macrophage Activation Syndrome; Langerhans Cell Histiocytosis (LCH); Hemoglobinopathies; Sickle Cell Disease; Sickle Cell-beta-thalassemia

 

Last Updated: 17 Oct 2013

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