Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
1.000 GeneticVariation disease BEFREE TGFBR2 c.1133G>T mutation was observed in mutation analysis, which was reported to be associated with Loeys-Dietz syndrome. 31045834 2019
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
1.000 Biomarker disease BEFREE Initially, mutations in transforming growth factor-β (TGF-β) receptors (TGFBR1 and TGFBR2) were described to cause LDS, hereby leading to impaired TGF-β signaling. 29392890 2018
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
1.000 Biomarker disease BEFREE Dysregulation of the TGF-ß pathway has been implicated in the pathogenesis of inherited disorders predisposing to thoracic aortic aneurysms syndromes (TAAS) including Marfan syndrome (MFS; FBN1) and Loeys-Dietz syndrome (LDS; TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD2, SMAD3). 29350460 2018
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
1.000 GeneticVariation disease BEFREE Interestingly, also human fibroblasts from Marfan (FBN1) and LDS (TGFBR2 and SMAD3) patients showed lower oxygen consumption. 29931197 2018
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
1.000 GeneticVariation disease CLINVAR Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing. 28182693 2017
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
1.000 GeneticVariation disease BEFREE This study describes the generation of human induced pluripotent stem cells (hiPSCs) from peripheral blood mononuclear cells obtained from an LDS patient with TGFBR2 mutation (R193W). 28395736 2017
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
1.000 Biomarker disease BEFREE The relationship between LDS and dAVF is unknown but this report shows the possibility that mutation of transforming growth factor β receptors 2 ( TGFBR2) related to LDS may be related to shunt diseases. 28304197 2017
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
1.000 GeneticVariation disease BEFREE Neonatal assessment showed craniofacial and cardiovascular findings suggestive of LDS whose diagnosis was confirmed by the detection of a novel mutation (HGVN: NM_003242.5 (TGFBR2): c.1381T > C (p.(Cys461Arg))) in the TGFBR2 gene. 28344185 2017
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
1.000 Biomarker disease GENOMICS_ENGLAND Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes. 26888179 2016
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
1.000 CausalMutation disease CLINVAR International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium). 27879313 2016
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
1.000 GeneticVariation disease BEFREE The Loeys-Dietz syndrome (LDS) is an inherited connective tissue disorder caused by mutations in the transforming growth factor β (TGF-β) receptors TGFBR1 or TGFBR2. 25116393 2014
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
1.000 GeneticVariation disease BEFREE Loeys-Dietz syndrome (LDS) is a connective tissue disorder caused by monoallelic mutations in TGFBR1 and TGFBR2, which encode for subunits of the transforming growth factor beta (TGFβ) receptor. 24333532 2014
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
1.000 GeneticVariation disease BEFREE We describe two novel mutations in TGFBR2 leading to LDS; PDA is common in our patients and can be safely occluded via transcatheter procedure. 24146167 2014
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
1.000 GeneticVariation disease BEFREE Database analysis of three German metropolitan regions identified 30 patients with LDS and TGFBR1 mutation in 6 and a TGFBR2 mutation in 24 individuals (17 men; mean age: 31 ± 19 years), as well as 60 age and sex-matched control patients with Marfan syndrome carrying a FBN1 mutation. 24344637 2014
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
1.000 Biomarker disease GENOMICS_ENGLAND TGF-β-Smad3 signaling in emphysema and pulmonary fibrosis: an epigenetic aberration of normal development? 23161884 2013
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
1.000 GeneticVariation disease BEFREE We demonstrate that patients with Loeys-Dietz syndrome (LDS), an autosomal dominant disorder caused by mutations in the genes encoding receptor subunits for TGFβ, TGFBR1 and TGFBR2, are strongly predisposed to develop allergic disease, including asthma, food allergy, eczema, allergic rhinitis, and eosinophilic gastrointestinal disease. 23884466 2013
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
1.000 CausalMutation disease CLINVAR Systemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: a case report. 24220024 2013
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
1.000 CausalMutation disease CLINVAR TGFβ receptor mutations impose a strong predisposition for human allergic disease. 23884466 2013
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
1.000 GeneticVariation disease CLINVAR TGFβ receptor mutations impose a strong predisposition for human allergic disease. 23884466 2013
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
1.000 GeneticVariation disease CLINVAR Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections. 22772377 2013
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
1.000 GeneticVariation disease BEFREE The propositus had the prototypic features of Loeys-Dietz syndrome with a de novo mutation in TGFBR2. 23686861 2013
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
1.000 Biomarker disease CTD_human Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. 22772368 2012
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
1.000 GeneticVariation disease BEFREE Loeys-Dietz syndrome (LDS) is a rare autosomal-dominant connective tissue disorder caused by heterozygous mutations in the genes encoding transforming growth factor beta receptor 1 or 2 (TGFBR1 or TGFBR2). 22095581 2012
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
1.000 CausalMutation disease CLINVAR Low bone mass and high material bone density in two patients with Loeys-Dietz syndrome caused by transforming growth factor beta receptor 2 mutations. 22095581 2012
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
1.000 CausalMutation disease CLINVAR Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome. 22113417 2012