Shwachman syndrome

Common Name(s)

Shwachman syndrome

Shwachman-Diamond syndrome is characterized primarily by exocrine pancreatic insufficiency, hematologic abnormalities, including increased risk of malignant transformation, and skeletal abnormalities. For a review of Shwachman-Diamond syndrome, see {13:Dror and Freedman (2002)}.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 syndrome" returned 51 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

Go To URL
Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry.
 

Author(s): Kasiani C Myers, Audrey Anna Bolyard, Barbara Otto, Trisha E Wong, Amanda T Jones, Richard E Harris, Stella M Davies, David C Dale, Akiko Shimamura

Journal: J. Pediatr.. 2014 Apr;164(4):866-70.

 

To investigate the range of clinical presentations for Shwachman-Diamond syndrome (SDS) with the long-term goal of improving diagnosis.

Last Updated: 21 Mar 2014

Go To URL
Proteolytic autodigestion: common tissue pathology in Shwachman-Diamond syndrome?
 

Author(s): James M Kelley, Asmin Tulpule, George Q Daley

Journal: Cell Cycle. 2013 ;12(22):3457-8.

 

Last Updated: 18 Nov 2013

Go To URL

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 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

Go To URL
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

Go To URL
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

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

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: 30 Mar 2015

Go to URL
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: 7 Apr 2015

Go to URL
Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases
 

Status: Recruiting

Condition Summary: Primary Immune Deficiency Disorders; Hemophagocytic Lymphohistiocytosis; Inherited Bone Marrow Failure Syndrome; Hemoglobinopathies; Metabolic Disorders

 

Last Updated: 10 Feb 2015

Go to URL