ELN, elastin, 2006

N. diseases: 545; N. variants: 61
Disease: Supravalvular aortic stenosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 Biomarker disease GENOMICS_ENGLAND Deletions of all or large parts of the ELN gene have been previously reported in two patients with supravalvular aortic stenosis (SVAS), and SVAS is also a frequent feature of Williams syndrome, where patients are hemizygous for ELN. 9215671 1997
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 GeneticVariation disease CLINVAR Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. 9215670 1997
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 GeneticVariation disease BEFREE Identification of elastin mutations in families with supravalvar aortic stenosis has enabled the identification of potentially large deletions that include one elastin allele in individuals with Williams syndrome. 8776022 1995
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 GeneticVariation disease BEFREE One hundred patients with diagnosed SVAS and normal karyotypes were screened for mutations in the elastin gene to further elucidate the molecular pathology of the disorder. 11175284 2000
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 Biomarker disease BEFREE Taken together with our previous study linking SVAS to the elastin gene in two additional families and existing knowledge of vascular biology, these data suggest that mutations in the elastin gene can cause SVAS. 8096434 1993
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 Biomarker disease GENOMICS_ENGLAND Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. 16085695 2006
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 GeneticVariation disease BEFREE The underlying cause of congenital supravalvular aortic stenosis (SVAS) has recently been identified as a loss-of function mutation of the elastin gene on chromosome 7q11.23, resulting in an obstructive arteriopathy of varying severity, which is most prominent at the aortic sinutubular junction. 11167112 2001
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 CausalMutation disease CLINVAR Domains 16 and 17 of tropoelastin in elastic fibre formation. 17037986 2007
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 Biomarker disease HPO
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 Biomarker disease BEFREE Both morphometric parameters analyzed by using automated image analysis and immunofluorescence labeling with monoclonal antibodies against elastin and fibrillin 1 showed a disorganized pre-elastic (oxytalan and elaunin) and mature elastic fibers in the dermis of 10 Williams syndrome patients compared with five healthy children and one patient with isolated supravalvular aortic stenosis. 10533027 1999
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 GeneticVariation disease BEFREE In vitro analysis using minigenes and cycloheximide showed that some selected frameshift mutant alleles are substrates of nonsense-mediated mRNA decay (NMD), confirming that the functional haploinsufficiency of the ELN gene is the main pathomechanism underlying SVAS. 19844261 2010
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 GermlineCausalMutation disease ORPHANET In vitro analysis using minigenes and cycloheximide showed that some selected frameshift mutant alleles are substrates of nonsense-mediated mRNA decay (NMD), confirming that the functional haploinsufficiency of the ELN gene is the main pathomechanism underlying SVAS. 19844261 2010
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 GeneticVariation disease BEFREE We propose a model for point-mutation SVAS in which aberrant tropoelastin molecules are incompetent and are mainly excluded from participation in coacervation and consequently in elastogenesis. 10542079 1999
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 GeneticVariation disease BEFREE In the SVAS group, 1/7 (14%) had an elastin gene deletion, despite having normal development and minimal signs of WBS. 9004128 1996
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 GeneticVariation disease BEFREE We report on a family in which SVAS is cosegregating with a balanced reciprocal translocation, t(6:7) (p21.1;q11.23), providing further evidence that SVAS is the result of a mutation of elastin at 7q11.23 region. 8362925 1993
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 GeneticVariation disease CLINVAR One hundred patients with diagnosed SVAS and normal karyotypes were screened for mutations in the elastin gene to further elucidate the molecular pathology of the disorder. 11175284 2000
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 GeneticVariation disease BEFREE The association of supravalvar aortic stenosis and elastin gene mutations was further strengthened. 7787263 1995
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 Biomarker disease BEFREE Elastin haploinsufficiency causes the cardiovascular complications associated with Williams-Beuren syndrome and isolated supravalvular aortic stenosis. 22049077 2011
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 GeneticVariation disease BEFREE These data indicate that mutations in the elastin gene cause SVAS and suggest that elastin exons 28-36 may encode critical domains for vascular development. 8132745 1994
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 Biomarker disease CTD_human WBS is thought to be caused by haploinsufficiency of certain dosage-sensitive genes within the deleted region, and the feature of supravalvular aortic stenosis (SVAS) has been attributed to reduced elastin caused by deletion of ELN. 20007321 2010
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 GeneticVariation disease BEFREE The disease gene has been identified on the elastin gene (ELN) and two types of SVAS have been categorized; a familial type and an isolated type with the de novo mutation. 31560829 2019
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 CausalMutation disease CLINVAR Deletions of all or large parts of the ELN gene have been previously reported in two patients with supravalvular aortic stenosis (SVAS), and SVAS is also a frequent feature of Williams syndrome, where patients are hemizygous for ELN. 9215671 1997
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 GeneticVariation disease BEFREE These data demonstrate that point mutations of ELN cause autosomal dominant SVAS. 9215670 1997
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 GeneticVariation disease BEFREE Haploinsufficiency of the elastin gene (ELN) on 7q11.23 is responsible for supravalvular aortic stenosis (SVAS) and other arteriopathies in patients with Williams-Beuren syndrome (WBS). 23401415 2013