|
Geleophysic dysplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Losartan is a promising candidate drug for treatment of GPHYSD due to FBN1 defects.
|
31350823 |
2019 |
|
Geleophysic dysplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia.
|
29191498 |
2018 |
|
Geleophysic dysplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The genetic cause of AD and some cases of GD was shown to be mutations in the transforming growth factor (TGF) β-binding protein-like domain 5 of the fibrillin 1 gene (FBN1), which is also mutated in Marfan syndrome.
|
27935852 |
2017 |
|
Geleophysic dysplasia
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia.
|
27245183 |
2016 |
|
Geleophysic dysplasia
|
0.700 |
GeneticVariation
|
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 |
|
Geleophysic dysplasia
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Ectopia lentis occurs in each of these conditions except geleophysic dysplasia, and is due to a defect in the ciliary zonule, which is predominantly composed of FBN1 microfibrils.
|
25957949 |
2015 |
|
Geleophysic dysplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Geleophysic dysplasia type 2 (MIM 614185) is autosomal dominant and is caused by heterozygous mutation in the fibrillin 1 (FBN1) gene.
|
24251637 |
2014 |
|
Geleophysic dysplasia
|
0.700 |
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 |
|
Geleophysic dysplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
GD is an extremely rare disorder and, to our knowledge, only one case of GD with an FBN1 mutation has been reported in Japan.
|
23124041 |
2013 |
|
Geleophysic dysplasia
|
0.700 |
Biomarker
|
disease |
BEFREE |
These phenotypes provide evidence that missense mutations in exons 41 and 42 of FBN1 lead to MFS and WMS in addition to AD and GD and also suggest that all individuals with pathogenic FBN1 mutations in these exons should be assessed for thoracic aortic disease and ectopia lentis.
|
23897642 |
2013 |
|
Geleophysic dysplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ADAMTSL2 and FBN1 genes have been shown to cause GD due to the dysregulation of transforming growth factor-β signaling pathways.
|
24014090 |
2013 |
|
Geleophysic dysplasia
|
0.700 |
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 |
|
Geleophysic dysplasia
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.
|
21683322 |
2011 |
|
Geleophysic dysplasia
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.
|
21683322 |
2011 |
|
Geleophysic dysplasia
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|