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 Duplication of the TGFBR1 gene causes features of Loeys-Dietz syndrome. 20813212 2011
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		1.000 GeneticVariation disease BEFREE In addition, a mouse genetics approach has also been used to investigate the disease pathogenesis of Loeys-Dietz syndrome, a familial autosomal dominant human disorder characterized by a dilated aortic root, and associated with mutations in the two TGFβ signaling receptor genes, TGFBR1 and TGFBR2. 21538815 2011
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		1.000 CausalMutation disease CLINVAR Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. 21358634 2011
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		1.000 CausalMutation disease CLINVAR Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment? 21267002 2011
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		1.000 GeneticVariation disease BEFREE Loeys-Dietz Syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with multisystem involvement, caused by heterozygous mutations of transforming growth factor beta receptor type 1 (TGFBR1) or type 2 (TGFBR2) genes. 20101701 2010
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		1.000 GeneticVariation disease BEFREE Aortic dilatation/dissection (AD) can occur spontaneously or in association with genetic syndromes, such as Marfan syndrome (MFS; caused by FBN1 mutations), MFS type 2 and Loeys-Dietz syndrome (associated with TGFBR1/TGFBR2 mutations), and Ehlers-Danlos syndrome (EDS) vascular type (caused by COL3A1 mutations). 20648054 2010
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		1.000 Biomarker disease CTD_human Loeys-Dietz syndrome (LDS, OMIM # 609192) caused by heterozygous mutations in TGFBR1 and TGFBR2 has recently been described as an important cause of familial aortic aneurysms. 20358619 2010
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		1.000 GeneticVariation disease BEFREE Loeys-Dietz syndrome (LDS, OMIM # 609192) caused by heterozygous mutations in TGFBR1 and TGFBR2 has recently been described as an important cause of familial aortic aneurysms. 20358619 2010
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		1.000 GeneticVariation disease BEFREE We report two novel mutations in the TGFBR1 and TGFBR2 genes in two patients affected with LDS and showing marked phenotypic variability. 19883511 2009
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		1.000 GeneticVariation disease BEFREE Heterozygosity for mutations in the TGFBR1 or TGFBR2 genes cause Loeys-Dietz syndrome (LDS) types 2A and 2B that overlap with MFS1 in their clinical features. 19159394 2009
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		1.000 GeneticVariation disease BEFREE TGFBR2 mutations can also cause TAAD in the absence of features of LDS in large multigenerational families, yet only sporadic LDS cases or parent-child pairs with TGFBR1 mutations have been reported to date. 19542084 2009
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		1.000 GeneticVariation disease BEFREE Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder resulting from genetic mutations in the transforming growth factor beta receptors 1 and 2 (TGFBR1 and TGFBR2). 18852674 2009
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		1.000 Biomarker disease CLINGEN We report two novel mutations in the TGFBR1 and TGFBR2 genes in two patients affected with LDS and showing marked phenotypic variability. 19883511 2009
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		1.000 GeneticVariation disease CLINVAR TGFBR2 mutations can also cause TAAD in the absence of features of LDS in large multigenerational families, yet only sporadic LDS cases or parent-child pairs with TGFBR1 mutations have been reported to date. 19542084 2009
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		1.000 CausalMutation disease CLINVAR TGFBR2 mutations can also cause TAAD in the absence of features of LDS in large multigenerational families, yet only sporadic LDS cases or parent-child pairs with TGFBR1 mutations have been reported to date. 19542084 2009
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		1.000 Biomarker disease CLINGEN TGFBR2 mutations can also cause TAAD in the absence of features of LDS in large multigenerational families, yet only sporadic LDS cases or parent-child pairs with TGFBR1 mutations have been reported to date. 19542084 2009
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		1.000 CausalMutation disease CLINVAR Germline allele-specific expression of TGFBR1 confers an increased risk of colorectal cancer. 18703712 2008
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		1.000 CausalMutation disease CLINVAR Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders. 18781618 2008
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		1.000 CausalMutation disease CLINVAR Aortic dissection in a young man with Loeys-Dietz syndrome. 18455604 2008
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		1.000 GeneticVariation disease BEFREE TGFBR2 and TGFBR1 mutations were identified in a subset of patients with MFS (MFS2, OMIM #154705) and other MFS-related disorders, including Loeys-Dietz syndrome (LDS, #OMIM 609192) and familial thoracic aortic aneurysms and dissections (TAAD2, #OMIM 608987). 17061023 2007
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		1.000 GeneticVariation disease CLINVAR TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. 16799921 2006
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		1.000 CausalMutation disease CLINVAR We found a mutation in TGFBR1 or TGFBR2 in all probands with typical Loeys-Dietz syndrome (type I) and in 12 probands presenting with vascular Ehlers-Danlos syndrome (Loeys-Dietz syndrome type II). 16928994 2006
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. 16799921 2006
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		1.000 CausalMutation disease CLINVAR Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. 16791849 2006
CUI: C2697932
Disease: Loeys-Dietz Syndrome
Loeys-Dietz Syndrome 		1.000 GeneticVariation disease BEFREE TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. 16799921 2006