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 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 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 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 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 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 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 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
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 GeneticVariation disease BEFREE We have identified two elastin gene (ELN) mutations located in cis in two related families with supravalvular aortic stenosis (SVAS). 11735026 2001
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 GeneticVariation disease BEFREE Haploinsufficiency of the ELN gene was shown to be responsible for supravalvular aortic stenosis and generalized arteriopathy, whereas LIMK1, CLIP2, GTF2IRD1 and GTF2I genes were suggested to be linked to the specific cognitive profile and craniofacial features. 19568270 2010
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 GeneticVariation disease BEFREE A new mutation in the elastin gene causing supravalvular aortic stenosis. 10190538 1999
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 GeneticVariation disease BEFREE Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts. 10190324 1999
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 GeneticVariation disease BEFREE We report the results obtained in a mutation screening of the elastin gene in 28 patients with supravalvular aortic stenosis and other vascular abnormalities. 15990952 2006
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 GeneticVariation disease BEFREE Sporadic and familial elastin mutations can occur in large vessel stenosis such as supravalvular aortic stenosis and narrowing of the descending aorta. 27080061 2016
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 GeneticVariation disease BEFREE Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm. 27866049 2017
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 GeneticVariation disease BEFREE This report records our experience of FISH for elastin deletion in isolated SVAS and specifically reports a patient with non-Williams related SVAS, positive for the elastin deletion by FISH. 9138154 1997
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 GeneticVariation disease BEFREE Included in the duplicated region is elastin (ELN), implicated as the cause of supravalvar aortic stenosis in patients with Williams-Beuren syndrome. 25428557 2015
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 GeneticVariation disease BEFREE Loss-of-function mutations in the elastin gene are known to cause the heart defect supravalvular aortic stenosis (SVAS). 9580666 1998
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 GeneticVariation disease BEFREE The first disorders to involve mutations in the elastin gene itself are, surprisingly, cardiovascular and neurobehavioral disorders, such as supravalvular aortic stenosis and Williams syndrome. 7963685 1994