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 |
Weill-Marchesani syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Cervical artery dissection expands the cardiovascular phenotype in FBN1-related Weill-Marchesani syndrome.
|
28696036 |
2017 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Weill-Marchesani syndrome
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome.
|
12525539 |
2003 |
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 |
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 |
Weill-Marchesani syndrome
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|
Weill-Marchesani syndrome
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|