FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Weill-Marchesani syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		0.900 GeneticVariation disease BEFREE Mutations in fibrillin-1 or ADAMTS10 cause Weill-Marchesani syndrome (WMS) characterized by short stature, eye defects, hypermuscularity and thickened skin. 30060141 2018
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		0.900 Biomarker disease BEFREE Cervical artery dissection expands the cardiovascular phenotype in FBN1-related Weill-Marchesani syndrome. 28696036 2017
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		0.900 Biomarker disease BEFREE Mutations in several genes have been identified for these disorders (including latent transforming growth factor β (TGF-β)-binding protein-2 (LTBP2), ADAMTS10, ADAMSTS17 and fibrillin-1 (FBN1) for Weill-Marchesani syndrome, ADAMTSL2 for recessive GD and FBN1 for AD and dominant GD), encoding proteins involved in the microfibrillar network. 27068007 2016
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		0.900 GeneticVariation disease BEFREE Moreover, mutations in specific regions of FBN1 can result in the opposite features of short stature and brachydactyly characteristic of Weill-Marchesani syndrome and other acromelic dysplasias. 27437668 2016
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		0.900 GeneticVariation disease BEFREE FBN1 variants are responsible for the related connective tissue disorders, grouped under the generic term of type-1 fibrillinopathies, which include Marfan syndrome (MFS), MASS syndrome (Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings, Acromicric dysplasia, Familial ectopia lentis, Geleophysic dysplasia 2, Stiff skin syndrome, and dominant Weill-Marchesani syndrome. 26875674 2016
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		0.900 GeneticVariation disease BEFREE Today we know that mutations in fibrillin-1 cause the Marfan syndrome as well as Weill-Marchesani syndrome (and other acromelic dysplasias) and result in opposite clinical phenotypes: tall or short stature; arachnodactyly or brachydactyly; joint hypermobility or stiff joints; hypomuscularity or hypermuscularity. 25957947 2015
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		0.900 GeneticVariation disease BEFREE Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome. 23897642 2013
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		0.900 GeneticVariation disease BEFREE Mutations in FBN1, ADAMTS10, or ADAMTS17 cause Weill-Marchesani syndrome by disrupting the microfibrillar environment, while geleophysic dysplasia is associated with enhanced TGF-β signaling mediated through mutations in FBN1 or ADAMTSL2. 24214363 2013
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		0.900 Biomarker disease MGD Here we show that a novel FBN1 mutation in a family with Weill-Marchesani syndrome (WMS) causes thick skin, short stature, and brachydactyly when replicated in mice. 22242013 2012
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		0.900 GeneticVariation disease BEFREE Dominant FBN1 mutations cause IEL or syndromic ectopia lentis (Marfan syndrome and Weill-Marchesani syndrome). 21989719 2012
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		0.900 GeneticVariation disease BEFREE Here we show that a novel FBN1 mutation in a family with Weill-Marchesani syndrome (WMS) causes thick skin, short stature, and brachydactyly when replicated in mice. 22242013 2012
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		0.900 GeneticVariation disease BEFREE Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions. 23133647 2012
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		0.900 GeneticVariation disease BEFREE Infrequently, FBN1 mutations cause dominantly inherited Weill-Marchesani syndrome (WMS), isolated ectopia lentis (IEL), or the fibrotic condition, geleophysic dysplasia (GD). 21858451 2011
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		0.900 GeneticVariation disease CLINVAR In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. 12525539 2003
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		0.900 GeneticVariation disease CLINVAR Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes. 12068374 2002
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		0.900 Biomarker disease BEFREE The dislocated lenses and connective tissue disorder in these families suggests that fibrillin-1 and microfibril-associated protein 1, which both map to 15q21.1, are candidate genes for Weill-Marchesani syndrome. 8914744 1996
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		0.900 Biomarker disease CTD_human
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		0.900 Biomarker disease GENOMICS_ENGLAND