ELN, elastin, 2006

N. diseases: 545; N. variants: 61
Disease: Williams Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.400 Biomarker disease BEFREE Insufficient elastin synthesis leads to vascular complications and arterial hypertension in children with Williams-Beuren syndrome. 31138170 2019
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.400 Biomarker disease BEFREE Elastin (ELN) insufficiency, as observed in patients with Williams-Beuren syndrome or with familial supravalvular aortic stenosis, also increases vascular stiffness and leads to arterial narrowing. 29498532 2018
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.400 Biomarker disease BEFREE Cardiovascular abnormalities, because of elastin deficiency, are the leading cause of morbidity and mortality in patients with Williams syndrome. 30045083 2018
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.400 AlteredExpression disease BEFREE EA.hy926 cells, human fibroblasts, and mesenchymal stem cells (MSCs) isolated from a patient with WBS were transfected with 2.5 μg TE mRNA. 29858082 2018
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.400 Biomarker disease BEFREE Elastin deficiency because of heterozygous loss of an <i>ELN</i> allele in Williams syndrome causes obstructive aortopathy characterized by medial thickening and fibrosis and consequent aortic stiffening. 28751568 2017
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.400 Biomarker disease BEFREE All patients received 3.7- to 5.5-GBq radioactive iodine (RAI) ablation, post-therapy whole-body scans (TxWBSs), and diagnostic WBS (DxWBSs) during follow-up. 27572060 2017
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.400 Biomarker disease BEFREE Haploinsufficiency of ELN likely contributed to this pulmonary manifestation of WBS. 28574231 2017
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.400 Biomarker disease BEFREE In terms of cross-linking, no differences in the content of the tetrafunctional cross-links desmosine and isodesmosine were found between WBS and healthy elastin. 27311421 2016
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.400 GeneticVariation disease BEFREE Williams syndrome (WS) is a well-known genetic syndrome caused by a microdeletion on chromosome 7q11.23 encompassing the elastin gene. 26002408 2016
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.400 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: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.400 Biomarker disease BEFREE Despite the elastin haploinsufficiency, the proximal intracranial arteries in Williams syndrome preserve normal patency. 23868161 2014
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.400 Biomarker disease BEFREE They show clinical features that vary between isolated SVAS to the full spectrum of WBS phenotype, associated with epilepsy or autism spectrum behavior. 23756441 2014
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.400 GeneticVariation disease BEFREE To determine whether DNA variations in ELN could serve as genetic modifiers, we sequenced the 33 exons and immediately surrounding sequence of the ELN gene (9,455 bp of sequence) in 49 DNAs from patients with WBS and compared cardiovascular phenotypes. 23401415 2013
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.400 Biomarker disease BEFREE Elastin haploinsufficiency in Williams-Beuren syndrome (WBS) leads to increased vascular smooth muscle cell (SMC) proliferation and stenoses. 23283491 2013
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.400 GeneticVariation disease BEFREE Williams-Beuren Syndrome (WBS) is associated with constitutional deletion of 7q11.23, which includes the elastin gene. 23018576 2013
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.400 Biomarker disease BEFREE A hallmark feature of Williams-Beuren Syndrome (WBS) is a generalized arteriopathy due to elastin deficiency, presenting as stenoses of medium and large arteries and leading to hypertension and other cardiovascular complications. 22319452 2012
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.400 GeneticVariation disease BEFREE Targeting the elastin gene, we show that transcriptional activation by engineered ZFPs can induce compensatory expression from the wild-type allele in the setting of classic WBS and SVAS genetic mutations, increase elastin expression in wild-type cells, induce expression of the major elastin splice variants, and recapitulate their natural stoichiometry. 22891920 2012
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.400 GeneticVariation disease BEFREE De novo CNVs of known pathogenic significance in other genomic disorders were also observed, including deletion at the TAR (thrombocytopenia absent radius) region on 1q21.1 and duplication at the WBS (Williams-Beuren syndrome) region at 7q11.23. 22083728 2012
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.400 Biomarker disease BEFREE ELN arteriopathy may be present in a nonsyndromic condition or in syndromic conditions such as Williams-Beuren syndrome. 23250899 2012
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.400 Biomarker disease BEFREE Elastin haploinsufficiency causes the cardiovascular complications associated with Williams-Beuren syndrome and isolated supravalvular aortic stenosis. 22049077 2011
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.400 Biomarker disease BEFREE A clear genotype-phenotype correlation has been established in WBS only for the elastin gene, which is responsible for the vascular and connective tissue abnormalities. 20437059 2010
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.400 GeneticVariation disease BEFREE We postulate that hemizygosity at the elastin gene locus may increase susceptibility towards the development of COPD and emphysema in subjects with WBS. 20186780 2010
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.400 Biomarker disease BEFREE These findings suggest that genes important in elastin metabolism are candidates for variability in the connective tissue abnormalities in WS. 20425789 2010
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.400 Biomarker disease BEFREE 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: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.400 Biomarker disease BEFREE Standard cytogenetic analysis using the ELN cosmid 82C and the ELN/ LIMK1 cosmid 34B FISH probes suggested a diagnosis of Williams syndrome. 19012340 2008