Shwachman-Diamond Syndrome

An inherited syndrome characterized by EXOCRINE PANCREATIC INSUFFICIENCY; hematologic abnormalities (e.g., bone marrow hypoplasia), and skeletal abnormalities (e.g., metaphyseal chondroplasia). GERMLINE MUTATIONS in the SBDS gene are associated with Shwachman-Diamond Syndrome.

Also Known As:

Congenital Lipomatosis of Pancreas; Metaphyseal Chondrodysplasia, Shwachman Type; Shwachman-Bodian-Diamond Syndrome; Shwachman-Diamond-Oski Syndrome; Pancreas Congenital Lipomatoses; Pancreas Congenital Lipomatosis; Shwachman Bodian Diamond Syndrome; Shwachman Bodian Syndrome; Shwachman Diamond Oski Syndrome; Pancreatic Insufficiency and Bone Marrow Dysfunction; Shwachman Diamond Syndrome; Shwachman Syndrome; Shwachman-Bodian Syndrome

Networked: 149 relevant articles (6 outcomes, 9 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Bone Marrow Failure Disorders
2.	Neutropenia
3.	Infections
4.	monosomy Chromosome 7
5.	Congenital Bone Marrow Failure Syndromes

Experts

1.	Sánchez-Puig, Nuria: 8 articles (10/2020 - 04/2007)
2.	Shimamura, Akiko: 8 articles (03/2020 - 08/2005)
3.	Alter, Blanche P: 7 articles (03/2020 - 04/2002)
4.	Gijsbers, Abril: 6 articles (10/2020 - 08/2013)
5.	Cipolli, Marco: 5 articles (01/2020 - 03/2012)
6.	Warren, Alan J: 5 articles (01/2019 - 04/2007)
7.	Rommens, Johanna M: 5 articles (10/2015 - 08/2002)
8.	Cesaro, Simone: 4 articles (09/2020 - 01/2016)
9.	Siliqi, Dritan: 3 articles (10/2020 - 01/2017)
10.	Dufour, Carlo: 3 articles (09/2020 - 01/2016)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Shwachman-Diamond Syndrome:

1.	Granulocyte Colony-Stimulating Factor (G-CSF)IBA 01/01/2019 - "We detected CSF3R mutations in CN patients with different genetic backgrounds, but not in patients with other types of bone marrow failure syndromes chronically treated with G-CSF (e.g., Shwachman-Diamond Syndrome). " 06/15/2006 - "We studied 374 patients with SCN and 29 patients with Shwachman-Diamond syndrome (SDS) on long-term G-CSF enrolled in the Severe Chronic Neutropenia International Registry. " 05/01/1995 - "Human granulocyte colony-stimulating factor (rHuG-CSF) for treatment of neutropenia in Shwachman syndrome." 05/01/1995 - "We report a boy affected by Shwachman syndrome (SS) who presented severe neutropenia and frequent suppurative infections, which we treated successfully with granulocyte colony-stimulating factor (rHuG-CSF). " 11/01/2002 - "Some responders with congenital neutropenia (termed Kostmann's syndrome herein) and Shwachman-Diamond syndrome have developed myelodysplastic syndrome and acute myeloid leukemia, which raises the question of the role of G-CSF in pathogenesis. "
2.	Lipase (Acid Lipase)FDA Link 07/01/1982 - "These results indicate that fat absorption improves in the majority of patients with Shwachman syndrome and appears to be associated with marginal improvement in pancreatic lipase secretion. " 04/01/2019 - "From the numerous disorders that could be associated with pancreatic insufficiency in children, the following conditions had been excluded: cystic fibrosis (mucoviscidosis), cow's milk protein intolerance, gluten-sensitive enteropathy (coeliac disease), Shwachman-Diamond syndrome, abetalipoproteinemia, etc. Based upon decreased levels of stool pancreatic elastase in repeated measurements, together with low serum lipase, the final diagnosis of exocrine pancreatic insufficiency was established. "
3.	Azacitidine (5 Azacytidine)FDA Link 01/01/2020 - "Herein, we report for the first time 2 patients MDS/AML (1 with Shwachman-Diamond syndrome and 1 with idiopathic MDS and monosomy 7) who presented with extramedullary complications, received treatment with azacitidine, achieved complete remission and subsequently underwent hematopoietic stem cell transplantation."
4.	Proteins (Proteins, Gene)FDA Link 07/19/2022 - "A Comparative Molecular Dynamics Study of Selected Point Mutations in the Shwachman-Bodian-Diamond Syndrome Protein SBDS." 01/01/2019 - "In this study, we demonstrate that expression of the Shwachman-Bodian-Diamond syndrome protein (SDBS) in a stiff matrix protects cells from apoptosis induced by environmental stress, including anticancer drugs. " 01/01/2011 - "In a previous study, we have shown association between the SBDS (Shwachman-Bodian-Diamond syndrome) and NIP7 proteins and that downregulation of SBDS in HEK293 affects gene expression at the transcriptional and translational levels. " 05/13/2005 - "A combination of structural, biochemical, and genetic studies in model organisms was used to infer a cellular role for the human protein (SBDS) responsible for Shwachman-Bodian-Diamond syndrome. " 01/01/2022 - "Mutations in these proteins prevent the release of eIF6 and cause a disease known as Shwachman-Diamond Syndrome (SDS). "
5.	DiamondIBA 03/01/2008 - "Pancreatic MRI was evaluated in 14 patients with a clinical diagnosis of Shwachman-Diamond syndrome, and the findings were correlated with Shwachman-Bodian-Diamond gene (SBDS) genotype. " 10/01/1999 - "There are fewer than 30 reports of cases with Diamond-Blackfan anaemia (DBA), and none with Shwachman-Diamond syndrome (SD). " 09/01/2011 - "Among the 259 primary patients with IBMFS enrolled in the study, the most prevalent categories were Diamond-Blackfan anaemia (44 patients), Fanconi anaemia (39) and Shwachman-Diamond syndrome (35). " 05/01/2008 - "They have also provided important insights into some fundamental biological pathways: DNA repair-FA/BRCA pathway; telomere maintenance- dyskeratosis congenita related genes; ribosome biogenesis-Shwachman Diamond syndrome and Diamond-Blackfan anaemia genes. " 10/01/1999 - "Pregnancy in bone marrow failure syndromes: Diamond-Blackfan anaemia and Shwachman-Diamond syndrome."
6.	GTP Phosphohydrolases (GTPases)IBA 01/01/2019 - "SDS is predominantly caused by deficiency of the allosteric regulator Shwachman-Bodian-Diamond syndrome that cooperates with elongation factor-like GTPase 1 (EFL1) to catalyze release of the ribosome antiassociation factor eIF6 and activate translation. " 01/01/2021 - "use X-ray crystallography, biophysical tools, and cell-based assays to investigate disease-associated variants of the SRP54 GTPase and to demonstrate that defects in SRP-mediated protein secretion can explain phenotypes of severe neutropenia with Shwachman-Diamond-syndrome-like symptoms." 10/21/2016 - "In the present text, the use of fluorescence anisotropy as a tool to study protein-protein interactions was exemplified to address the binding between the protein mutated in the Shwachman-Diamond Syndrome (SBDS) and the Elongation factor like-1 GTPase (EFL1). " 12/12/2018 - "Interaction of the GTPase Elongation Factor Like-1 with the Shwachman-Diamond Syndrome Protein and Its Missense Mutations." 08/02/2013 - "Guanine nucleotide exchange in the ribosomal GTPase EFL1 is modulated by the protein mutated in the Shwachman-Diamond syndrome."
7.	Peptide Elongation Factors (Elongation Factor)IBA 10/01/2020 - "Exploring the role of elongation Factor-Like 1 (EFL1) in Shwachman-Diamond syndrome through molecular dynamics." 01/01/2019 - "SDS is predominantly caused by deficiency of the allosteric regulator Shwachman-Bodian-Diamond syndrome that cooperates with elongation factor-like GTPase 1 (EFL1) to catalyze release of the ribosome antiassociation factor eIF6 and activate translation. " 01/24/2014 - "Removal of anti-association factor, Tif6 (eIF6), by elongation factor-like 1 (EFL1) and Shwachman-Bodian-Diamond syndrome (SBDS) protein is a critical step in the late stage of ribosome maturation. " 10/01/2020 - "Shwachman-Diamond Syndrome (SDS) is an autosomal recessive disorder whose patients present mutations in two ribosome assembly proteins, the Shwachman-Bodian-Diamond Syndrome protein (SBDS) and the Elongation Factor-Like 1 (EFL1). " 10/21/2016 - "In the present text, the use of fluorescence anisotropy as a tool to study protein-protein interactions was exemplified to address the binding between the protein mutated in the Shwachman-Diamond Syndrome (SBDS) and the Elongation factor like-1 GTPase (EFL1). "
8.	alpha-Tocopherol FDA Link 06/01/1997 - "Depressed natural killer cell activity due to decreased natural killer cell population in a vitamin E-deficient patient with Shwachman syndrome: reversible natural killer cell abnormality by alpha-tocopherol supplementation." 01/01/1991 - "Increased whole blood chemiluminescence in patients with Shwachman syndrome: therapy trial with thiamine and alpha-tocopherol."
9.	Thiamine (Aneurin)FDA Link 05/12/1984 - "Correction of defective chemotaxis with thiamine in Shwachman-Diamond syndrome." 01/01/1991 - "Increased whole blood chemiluminescence in patients with Shwachman syndrome: therapy trial with thiamine and alpha-tocopherol."
10.	Actins (F Actin)IBA 03/01/2009 - "These studies showed that SBDS and F-actin co-localize in neutrophilic cells and that F-actin polymerization and depolymerization characteristics are altered in Shwachman-Diamond syndrome neutrophils as compared to control neutrophils in response to both fMLP and C5a. " 03/01/2009 - "Moreover, F-actin cytoskeletal polarization is delayed in Shwachman-Diamond syndrome neutrophils. " 03/01/2009 - "Thus, Shwachman-Diamond syndrome neutrophils have aberrant chemoattractant-induced F-actin properties which might contribute to the impaired neutrophil chemotaxis." 03/01/2009 - "Additionally, we examined in control neutrophils and cells from genetically defined Shwachman-Diamond syndrome patients F-actin polymerization and cytoskeletal polarization characteristics upon chemoattractant stimulation. " 03/01/2009 - "Shwachman-Diamond syndrome neutrophils have altered chemoattractant-induced F-actin polymerization and polarization characteristics."

Therapies and Procedures

1.	Hematopoietic Stem Cell Transplantation 11/01/2005 - "Our objective was to study the outcome of allogeneic hematopoietic stem cell transplantation (HSCT) for Shwachman-Diamond Syndrome (SDS). " 01/14/2023 - "[Allogeneic hematopoietic stem cell transplantation for MDS secondary to Shwachman-Diamond syndrome: a case report]." 01/01/2020 - "Hematopoietic Stem Cell Transplantation for Shwachman-Diamond Syndrome." 01/01/2020 - "Allogeneic hematopoietic stem cell transplantation (HSCT) is a curative procedure in patients with Shwachman-Diamond syndrome (SDS) with bone marrow abnormalities. " 09/01/2017 - "First experience of hematopoietic stem cell transplantation treatment of Shwachman-Diamond syndrome using unaffected HLA-matched sibling donor produced through preimplantation HLA typing."
2.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 09/01/2002 - "Allogeneic bone marrow transplantation in Shwachman-Diamond syndrome with malignant myeloid transformation. " 08/01/2002 - "Bone marrow transplantation in Shwachman-Diamond syndrome." 01/01/2001 - "Successful unrelated bone marrow transplantation for Shwachman-Diamond syndrome." 12/01/1999 - "Shwachman-Diamond syndrome: early bone marrow transplantation in a high risk patient and new clues to pathogenesis." 04/01/1998 - "Bone marrow transplantation in Shwachman-Diamond syndrome: report of two cases and review of the literature."
3.	Transplantation 08/01/2008 - "Reduced-intensity conditioning is effective and safe for transplantation of patients with Shwachman-Diamond syndrome." 11/01/2005 - "Successful unrelated umbilical cord blood transplantation in children with Shwachman-Diamond syndrome." 01/01/2020 - "We report the outcomes of hematopoietic stem cell transplantation (HSCT) for 52 patients with Shwachman-Diamond syndrome (SDS) who underwent transplantation between 2000 and 2017. " 01/01/2021 - "Successful Umbilical Cord Blood Transplantation With Reduced-intensity Conditioning for Acute Myeloid Leukemia in a Child With Shwachman-Diamond Syndrome." 09/01/2020 - "Correction: Long-term outcome after allogeneic hematopoietic stem cell transplantation for Shwachman-Diamond syndrome: a retrospective analysis and a review of the literature by the Severe Aplastic Anemia Working Party of the European Society for Blood and Marrow Transplantation (SAAWP-EBMT)."
4.	Therapeutics 03/01/2012 - "To assess psychosocial functioning and quality of life in a representative group of adult and young patients with Shwachman-Diamond syndrome (SDS), all patients 3 years old and over included in the Italian SDS Registry were investigated using an ad-hoc questionnaire for information about demography, education, socialization, rehabilitation therapy, and standardized questionnaires [SF-36, Child Behavior Check-List (CBCL)] for quality of life and behavior. " 06/01/2002 - "Bone marrow transplantation is potentially curative therapy for the hematologic complications associated with Shwachman-Diamond syndrome (SDS). " 03/01/2020 - "Our results suggest that prognosis is poor for patients with Shwachman-Diamond syndrome and myelodysplastic syndrome or acute myeloid leukaemia owing to both therapy-resistant disease and treatment-related toxicities. " 02/16/2023 - "Counteracting the Common Shwachman-Diamond Syndrome-Causing SBDS c.258+2T>C Mutation by RNA Therapeutics and Base/Prime Editing." 01/01/2022 - "Case report: Venetoclax therapy in a boy with acute myeloid leukemia in Shwachman Diamond syndrome."
5.	Stem Cell Transplantation 10/01/2008 - "Myocardial function in patients with Shwachman-Diamond syndrome: aspects to consider before stem cell transplantation." 10/01/2022 - "Stem Cell Transplantation in Patients Affected by Shwachman-Diamond Syndrome: Expert Consensus and Recommendations From the EBMT Severe Aplastic Anaemia Working Party." 01/01/2022 - "[Haploidentical stem cell transplantation for acute myeloid leukemia associated with adult-onset Shwachman-Diamond syndrome]."