FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Ectopia Lentis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.700 GeneticVariation disease BEFREE Mutations of the fibrillin gene (FBN1) are known to cause classical Marfan's syndrome, ectopia lentis and neonatal Marfan's syndrome. 7870075 1994
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.700 GeneticVariation disease LHGDN The roles of two novel FBN1 gene mutations in the genotype-phenotype correlations of Marfan syndrome and ectopia lentis patients with marfanoid habitus. 18471089 2008
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.700 GeneticVariation disease BEFREE We indentified a p.Y754C mutation in FBN1, which is the causative mutation for EL in this family. 22393277 2012
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.700 Biomarker disease HPO
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.700 GeneticVariation disease BEFREE In Marfan syndrome (MFS), FBN1 mutations lead to ectopia lentis. 24265020 2013
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.700 GeneticVariation disease BEFREE We identified 105 putative substrates of ASPH-mediated hydroxylation in the human proteome, of which two (fibrillin-1 and latent transforming growth factor beta binding protein-2) are associated with inherited ectopia lentis syndromes, and are essential for microfibril and ciliary zonule development. 30600741 2019
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.700 GeneticVariation disease BEFREE We report a recurrent R240C mutation in FBN1 in an autosomal dominant ectopia lentis family. 18079676 2007
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.700 GeneticVariation disease BEFREE Individuals with EL alone may also have FBN1 pathogenic variants, and the risk for aortic disease is not well known. 28941062 2017
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.700 GeneticVariation disease LHGDN Recurrent FBN1 mutation (R62C) in a Chinese family with isolated ectopia lentis. 16765689 2006
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.700 GeneticVariation disease BEFREE Novel mutation in FBN1 causes ectopia lentis and varicose great saphenous vein in one Chinese autosomal dominant family. 24940037 2014
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.700 GermlineCausalMutation disease ORPHANET
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.700 GeneticVariation disease BEFREE New fibrillin 1 gene mutations have been identified in patients with Marfan syndrome, the neonatal form of Marfan syndrome, and ectopia lentis. 7787263 1995
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.700 CausalMutation disease CLINVAR
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.700 GeneticVariation disease BEFREE Dominant FBN1 mutations cause IEL or syndromic ectopia lentis (Marfan syndrome and Weill-Marchesani syndrome). 21989719 2012
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.700 GeneticVariation disease BEFREE Early onset ectopia lentis due to a FBN1 mutation with non-penetrance. 25900864 2015
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.700 Biomarker disease BEFREE Consistent, qualitative abnormalities in fibrillin-1 staining pattern can be seen in the conjunctiva of patients with Marfan syndrome with ectopia lentis. 16476890 2006
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.700 Biomarker disease CTD_human Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. 22772368 2012
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.700 GeneticVariation disease BEFREE These findings suggest that EL caused by mutations in FBN1 is actually part of a spectrum of fibrillinopathies with MFS, and the term 'IEL' should be avoided in such cases. 24635535 2015
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.700 GeneticVariation disease BEFREE In common with previous studies, genotype-phenotype analysis showed that a FBN1 mutation was more likely to be identified in patients fulfilling Ghent criteria (P = 0.005) and in those who had ectopia lentis (EL) (P < 0.0001). 19161152 2009
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.700 GeneticVariation disease CLINVAR