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 GeneticVariation disease BEFREE The present study assessed prevalence and determinants of osteopenia and osteoporosis in patients with SDS and disease-causing mutations in the SBDS gene. 17920346 2007
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 Biomarker disease BEFREE Ataluren-driven restoration of Shwachman-Bodian-Diamond syndrome protein function in Shwachman-Diamond syndrome bone marrow cells. 29285795 2018
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
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 CausalMutation disease CLINVAR Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome. 15701631 2005
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 GeneticVariation disease BEFREE MRI of the brain was performed in nine patients (7 males, age range 7-37 years) with SDS and mutations in the SBDS gene and in 18 age- and gender-matched controls. 18478597 2008
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 GeneticVariation disease BEFREE Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome. 14749921 2004
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 GeneticVariation disease BEFREE These data are consistent with absence of homozygosity for the common K62X truncation mutation in individuals with SDS, indicating that the SDS disease phenotype is a consequence of expression of hypomorphic SBDS alleles and that complete loss of SBDS function is likely to be lethal. 15701631 2005
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 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 CLINGEN The addition of wild-type SBDS complements the actinomycin D hypersensitivity of SDS patient cells. 17475909 2007
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 GeneticVariation disease BEFREE Shwachman-Diamond syndrome (SDS) (OMIM 260400) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, skeletal, and hematological abnormalities and bone marrow (BM) dysfunction.Mutations in the SBDS gene cause SDS. 27553422 2017
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 GeneticVariation disease BEFREE 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. 24406167 2014
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 GeneticVariation disease BEFREE The mutation of Shwachman-Bodian-Diamond syndrome (SBDS) gene has been proposed to be a major causative reason for SDS. 29444436 2018
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 The results suggest that the characteristic skeletal changes are present in all patients with SDS and SBDS mutations, but their severity and localization varies with age. 14984468 2004
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 CausalMutation disease CLINVAR Mutations in SBDS are associated with Shwachman-Diamond syndrome. 12496757 2003
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 GeneticVariation disease BEFREE Here we describe the molecular characterization of the first documented gross deletion in the SBDS gene, in a 4-year-old Portuguese girl with SDS. 17376717 2007
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) 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). 31838967 2019
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 Mutations in SBDS are associated with Shwachman-Diamond syndrome. 12496757 2003