Disease: Marfan Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.500 CausalMutation disease CLINVAR
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.500 GeneticVariation disease CLINVAR
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.500 GeneticVariation disease BEFREE Marfan syndrome, a human disease involving cardiovascular and skeletal apparatuses and ocular and central nervous systems, is associated to mutations in FBN1 gene; heterozygous mutations in TGFBR2 and TGFBR1 genes were found associated to MFS type 2, characterized by the presence of skeletal and cardiovascular major criteria and absence of eye major criterion. 17936924 2009
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.500 GeneticVariation disease BEFREE Additional genes in the TGFβ network include FBN1, TGFBR1, and TGFBR2, mutations of which cause either Marfan syndrome (MFS) or Loeys-Dietz syndrome (LDS), respectively. 21465659 2011
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.500 GeneticVariation disease BEFREE Although the disease has some phenotypic overlap with Marfan syndrome, the disease, that is caused by mutations in the transforming growth factor beta-receptor 1 (TGFBR1) or transforming growth factor beta-receptor 2 (TGFBR2) genes, presents many distinctive features and a particularly aggressive cardiovascular course. 16981219 2006
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.500 Biomarker disease BEFREE ATAA samples taken during aortic replacement from age-matched MFS (n=9) and non-MFS (n=18) patients were assessed for representative subtypes of all MMP classes, all 4 known TIMPs, and type 2 TGF-beta receptors (TGFBR2). 16820601 2006
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.500 GeneticVariation disease BEFREE By excluding the chromosome 15 disease locus, fibrillin 1 (FBN1), in a large French family with typical cardiovascular and skeletal anomalies, we raised the issue of genetic heterogeneity in MFS and the implication of a second locus (MFS2). 7632217 1994
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.500 GeneticVariation disease BEFREE Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. 19996017 2009
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.500 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: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.500 GeneticVariation 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: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.500 GeneticVariation disease BEFREE Genomic DNA from peripheral blood leukocytes of a Chinese proband with Marfan syndrome, five of the proband's relatives, and 100 unrelated Chinese control subjects were isolated and screened for fibrillin-1 (FBN1) and TGFBR2 gene mutations by direct sequencing, and a genotype-phenotype study was performed following a review of the literature on TGFBR2 mutations in the search area. 22259224 2012
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.500 GeneticVariation disease BEFREE Here, we performed an MLPA (multiplex ligation-dependent probe amplification) test to detect large deletions and/or duplications in FBN1 and TGFBR2 in 115 unrelated Chinese patients with suspected MFS or early-onset aneurysm/dissection. 30286810 2018
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.500 GeneticVariation disease BEFREE Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. 16791849 2006
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.500 GeneticVariation disease LHGDN Identification of TGFBR2 mutations in Marfan syndrome type II provided the direct evidence of the relation in humans. 15861007 2005
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.500 Biomarker disease BEFREE Identification of a 3p24.1 chromosomal breakpoint disrupting the gene encoding TGF-beta receptor 2 (TGFBR2) in a Japanese individual with Marfan syndrome led us to consider TGFBR2 as the gene underlying association with Marfan syndrome at the MSF2 locus. 15235604 2004
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.500 Biomarker disease CTD_human Identification of a 3p24.1 chromosomal breakpoint disrupting the gene encoding TGF-beta receptor 2 (TGFBR2) in a Japanese individual with Marfan syndrome led us to consider TGFBR2 as the gene underlying association with Marfan syndrome at the MSF2 locus. 15235604 2004
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.500 GeneticVariation disease BEFREE Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes. 19533785 2009
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.500 Biomarker disease BEFREE In conclusion, our data reappraise the role of TGFBR1 and TGFBR2 as major genes in patients with MFS, and suggest that TGFBR1/2 genetic variants (in particular when evaluated as a burden by score) might play a role in modulating the severity of cardiovascular manifestation in MFS. 28847661 2018
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.500 GeneticVariation disease BEFREE In order to evaluate the contribution of FBN1, FBN2, TGFBR1, and TGFBR2 mutations to the Marfan syndrome (MFS) phenotype, the four genes were analyzed by direct sequencing in 49 patients with MFS or suspected MFS as a cohort study. 16835936 2006
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.500 GeneticVariation disease BEFREE In order to investigate the molecular and clinical spectrum of TGFBR2 mutations we screened the gene in 457 probands suspected of being affected with Marfan syndrome or related disorders that had been referred to our laboratory for molecular diagnosis. 18781618 2008
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.500 GeneticVariation disease LHGDN In order to investigate the molecular and clinical spectrum of TGFBR2 mutations we screened the gene in 457 probands suspected of being affected with Marfan syndrome or related disorders that had been referred to our laboratory for molecular diagnosis. 18781618 2008
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.500 GeneticVariation disease BEFREE In young MFS mice with and without superimposed deletion of SMC-TBRII, we measured aortic dimensions, histopathology, activation of aortic SMC TGF-β signaling pathways, and changes in aortic SMC gene expression. 28119285 2017
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.500 GeneticVariation disease BEFREE Moreover, in 4 families linkage with the FBN1 and TGFBR2 genes was excluded, and no mutations were identified in the coding region of TGFBR1, indicating the existence of other genes involved in MFS. 21789464 2011
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.500 GeneticVariation disease BEFREE Mutations in FBN1 and TGFBR2 genes are the main causative mutations identified in Marfan syndrome (MFS). 22310065 2012
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.500 GeneticVariation disease BEFREE Mutations in FBN1, TGFBR1, TGFBR2 are known to cause Marfan syndrome (MIM 154700), a pleiotropic disorder. 20538085 2011