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 47 free, full-text research articles on human participants. First 3 results:

Structural dynamics of the yeast Shwachman-Diamond syndrome protein (Sdo1) on the ribosome and its implication in the 60S subunit maturation.
 

Author(s): Chengying Ma, Kaige Yan, Dan Tan, Ningning Li, Yixiao Zhang, Yi Yuan, Zhifei Li, Meng-Qiu Dong, Jianlin Lei, Ning Gao

Journal: Protein Cell. 2016 Mar;7(3):187-200.

 

The human Shwachman-Diamond syndrome (SDS) is an autosomal recessive disease caused by mutations in a highly conserved ribosome assembly factor SBDS. The functional role of SBDS is to cooperate with another assembly factor, elongation factor 1-like (Efl1), to promote the release of ...

Last Updated: 14 Mar 2016

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Defective Guanine Nucleotide Exchange in the Elongation Factor-like 1 (EFL1) GTPase by Mutations in the Shwachman-Diamond Syndrome Protein.
 

Author(s): Adrián García-Márquez, Abril Gijsbers, Eugenio de la Mora, Nuria Sánchez-Puig

Journal: J. Biol. Chem.. 2015 Jul;290(29):17669-78.

 

Ribosome biogenesis is orchestrated by the action of several accessory factors that provide time and directionality to the process. One such accessory factor is the GTPase EFL1 involved in the cytoplasmic maturation of the ribosomal 60S subunit. EFL1 and SBDS, the protein mutated ...

Last Updated: 18 Jul 2015

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Diffuse alterations in grey and white matter associated with cognitive impairment in Shwachman-Diamond syndrome: evidence from a multimodal approach.
 

Author(s): Sandra Perobelli, Franco Alessandrini, Giada Zoccatelli, Elena Nicolis, Alberto Beltramello, Baroukh M Assael, Marco Cipolli

Journal:

 

Shwachman-Diamond syndrome is a rare recessive genetic disease caused by mutations in SBDS gene, at chromosome 7q11. Phenotypically, the syndrome is characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal dysplasia and variable cognitive impairments. ...

Last Updated: 6 Apr 2015

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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 10 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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Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update.
 

Author(s): Kasiani C Myers, Stella M Davies, Akiko Shimamura

Journal: Hematol. Oncol. Clin. North Am.. 2013 Feb;27(1):117-28, ix.

 

Shwachman-Diamond syndrome (SDS) is an inherited neutropenia syndrome associated with a significant risk of aplastic anemia and malignant transformation. Multiple additional organ systems, including the pancreas, liver, and skeletal and central nervous systems, are affected. Mutations ...

Last Updated: 28 Jan 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 Trial Information This information is provided by ClinicalTrials.gov

BMT Abatacept 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 Major; Hemophagocytic Lymphohistiocytosis; Sickle Cell Disease

 

Last Updated: 19 Jul 2017

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Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer
 

Status: Not yet recruiting

Condition Summary: Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive; Acute Leukemia in Remission; Acute Lymphoblastic Leukemia; Acute Myeloid Leukemia; Acute Myeloid Leukemia With FLT3/ITD Mutation; Acute Myeloid Leukemia With Gene Mutations; Aplastic Anemia; B-Cell Non-Hodgkin Lymphoma; CD40 Ligand Deficiency; Chronic Granulomatous Disease; Chronic Leukemia in Remission; Chronic Lymphocytic Leukemia; Chronic Myelogenous Leukemia, BCR-ABL1 Positive; Chronic Myelomonocytic Leukemia; Chronic Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive; Congenital Amegakaryocytic Thrombocytopenia; Congenital Neutropenia; Congenital Pure Red Cell Aplasia; Glanzmann Thrombasthenia; Immunodeficiency Syndrome; Myelodysplastic Syndrome; Myelofibrosis; Myeloproliferative Neoplasm; Paroxysmal Nocturnal Hemoglobinuria; Plasma Cell Myeloma; Polycythemia Vera; Recurrent Non-Hodgkin Lymphoma; Refractory Non-Hodgkin Lymphoma; Secondary Acute Myeloid Leukemia; Secondary Myelodysplastic Syndrome; Severe Aplastic Anemia; Shwachman-Diamond Syndrome; Sickle Cell Disease; T-Cell Non-Hodgkin Lymphoma; Thalassemia; Waldenstrom Macroglobulinemia; Wiskott-Aldrich Syndrome

 

Last Updated: 14 Nov 2017

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Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies
 

Status: Recruiting

Condition Summary: Sickle Cell Disease; Transfusion Dependent Alpha- or Beta- Thalassemia; Diamond Blackfan Anemia; Paroxysmal Nocturnal Hemoglobinuria; Glanzmann Thrombasthenia; Severe Congenital Neutropenia; Shwachman-Diamond Syndrome; Non-Malignant Hematologic Disorders

 

Last Updated: 4 Oct 2017

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