SBDS, SBDS ribosome maturation factor, 51119

N. diseases: 105; N. variants: 17
Disease: Shwachman syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 Biomarker disease CLINGEN 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. 23602541 2013
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 GeneticVariation disease BEFREE In addition to 25 patients with biallelic Shwachman-Bodian-Diamond syndrome (SBDS) gene mutations, we evaluated 18 patients with cytopenias who were receiving pancreatic enzyme replacement but were without SBDS mutation. 23305959 2013
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 CausalMutation disease CLINVAR Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update. 23351992 2013
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 CausalMutation disease CLINVAR Shwachman-Diamond syndrome: diarrhea, no longer required? 22935661 2013
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 Biomarker disease BEFREE In summary, we demonstrate an SBDS-dependent ribosome maturation defect in SDS patient cells. 23115272 2012
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 CausalMutation disease CLINVAR Acquired copy number neutral loss of heterozygosity of chromosome 7 associated with clonal haematopoiesis in a patient with Shwachman-Diamond syndrome. 22934832 2012
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 Biomarker disease CLINGEN In summary, we demonstrate an SBDS-dependent ribosome maturation defect in SDS patient cells. 23115272 2012
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 GeneticVariation disease BEFREE Blood neutrophils from 13 cases of Shwachman-Diamond syndrome - ten with and three without SBDS gene mutation - and ten controls were investigated by confocal microscopy and ultrastructural immunocytochemistry using antibodies against ubiquitinated proteins, proteasomes, p62 protein, and Helicobacter pylori VacA, urease and outer membrane proteins. 22271888 2012
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 Biomarker disease CLINGEN More than 90% of patients with SDS have biallelic loss-of-function mutations in the Shwachman-Bodian Diamond syndrome (SBDS) gene, which encodes a factor involved in ribosome function. 22510201 2012
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 GeneticVariation disease BEFREE In mammalian cells, the current model posits that eIF6 release is triggered following phosphorylation of Ser 235 by activated protein kinase C. In contrast, genetic studies in yeast indicate a requirement for the ortholog of the SBDS (Shwachman-Bodian-Diamond syndrome) gene that is mutated in the inherited leukemia predisposition disorder Shwachman-Diamond syndrome (SDS). 21536732 2011
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 Biomarker disease BEFREE SBDS-negative SDS patients may have more severe hematological failure and milder pancreatic disease. 20569259 2011
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 CausalMutation disease CLINVAR Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndrome. 21695142 2011
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 Biomarker disease BEFREE Furthermore, stimulation of global translation with leucine improved the erythroid cell expansion of SBDS-knockdown cells and colony production of SDS patient HSC/Ps. 21963601 2011
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 GeneticVariation disease BEFREE Shwachman-Diamond syndrome (SDS) results from mutations in the SBDS gene, characterized by exocrine pancreatic insufficiency and hematologic and skeletal abnormalities. 21084708 2011
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 Biomarker disease BEFREE Our structure-function analyses provide new insight into localization and motility of the SBDS protein, and show that patient-related mutant proteins are altered in their molecular properties, which may contribute to the clinical features observed in SDS patients. 21695142 2011
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 GeneticVariation disease BEFREE Shwachman-Diamond syndrome (SDS), a recessive leukemia predisposition disorder characterized by bone marrow failure, exocrine pancreatic insufficiency, skeletal abnormalities and poor growth, is caused by mutations in the highly conserved SBDS gene. 21803848 2011
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 GeneticVariation disease BEFREE Mutations in the SBDS gene are identified in most patients with SDS. 21660439 2011
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 AlteredExpression disease BEFREE Uniformly low SBDS protein expression levels distinguish the majority of SDS patients from controls or other marrow failure syndromes. 20658628 2010
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 Biomarker disease BEFREE 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. 19211642 2009
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 Biomarker disease BEFREE SBDS, the gene associated with SDS, has been postulated to play a role in ribosome biogenesis and RNA processing, but its functions are still unknown. 19438500 2009
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 GeneticVariation disease BEFREE Shwachman-Diamond syndrome (SDS; OMIM 260400) results from loss-of-function mutations in the Shwachman-Bodian Diamond syndrome (SBDS) gene. 19602484 2009
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 GeneticVariation disease BEFREE In order to characterize the natural course of Shwachman-Diamond syndrome (SDS)-associated hepatopathy we evaluated liver biochemistry and imaging findings, and their evolution with age, in patients with SDS and verified SBDS mutations. 19683257 2009
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 GeneticVariation disease BEFREE We studied eight patients with SDS carrying the i(7)(q10) who were compound heterozygotes for SBDS mutations. 19148133 2009
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 GeneticVariation disease BEFREE SBDS/7q11 gene mutations underlie the congenital Shwachman Diamond syndrome (SDS), characterized by bone marrow failure and high risk of haematological malignancies. 19016724 2009
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 Biomarker disease BEFREE The Shwachman-Bodian-Diamond syndrome (SBDS) gene was identified as a causative gene for SDS in 2003, and genetic analyses of SDS have been performed. 17916435 2008