Weill-Marchesani syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the secreted metalloproteinase ADAMTS10 cause recessive Weill-Marchesani syndrome (WMS), comprising ectopia lentis, short stature, brachydactyly, thick skin and cardiac valve anomalies.
|
30201140 |
2019 |
Weill-Marchesani syndrome
|
0.770 |
Biomarker
|
disease |
MGD |
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
|
0.770 |
Biomarker
|
disease |
BEFREE |
ADAMTS10 has been characterized as a metalloproteinase involved in fibrillin-rich microfibril biogenesis, and its mutations have been implicated in the connective tissue disorder Weill-Marchesani syndrome.
|
30287421 |
2018 |
Weill-Marchesani syndrome
|
0.770 |
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
|
0.770 |
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
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome.
|
25469541 |
2015 |
Weill-Marchesani syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Our study suggests that isolated microspherophakia and the Weill-Marchesani Syndrome are not allelic to the ADAMTS10 gene.
|
19696795 |
2009 |
Weill-Marchesani syndrome
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
We report the identification and functional analysis of the first missense ADAMTS10 mutation (c.73G>A; p.Ala25Thr) causing recessive Weill-Marchesani syndrome (WMS).
|
18567016 |
2008 |
Weill-Marchesani syndrome
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome.
|
15368195 |
2004 |
Weill-Marchesani syndrome
|
0.770 |
Biomarker
|
disease |
CTD_human |
|
|
|
WEILL-MARCHESANI SYNDROME 1
|
0.610 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
ADAMTS10-mediated tissue disruption in Weill-Marchesani syndrome.
|
30060141 |
2018 |
WEILL-MARCHESANI SYNDROME 1
|
0.610 |
GeneticVariation
|
disease |
BEFREE |
Functional variants in ADAMTS10 are associated with Weill-Marchesani syndrome-1.
|
25469541 |
2015 |
WEILL-MARCHESANI SYNDROME 1
|
0.610 |
GeneticVariation
|
disease |
UNIPROT |
Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme.
|
18567016 |
2008 |
WEILL-MARCHESANI SYNDROME 1
|
0.610 |
GeneticVariation
|
disease |
UNIPROT |
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome.
|
15368195 |
2004 |
WEILL-MARCHESANI SYNDROME 1
|
0.610 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome.
|
15368195 |
2004 |
WEILL-MARCHESANI SYNDROME 1
|
0.610 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
WEILL-MARCHESANI SYNDROME 1
|
0.610 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Weill-Marchesani Syndrome, Autosomal Recessive
|
0.510 |
Biomarker
|
disease |
MGD |
ADAMTS10-mediated tissue disruption in Weill-Marchesani syndrome.
|
30060141 |
2018 |
Weill-Marchesani Syndrome, Autosomal Recessive
|
0.510 |
GeneticVariation
|
disease |
BEFREE |
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome.
|
15368195 |
2004 |
Weill-Marchesani Syndrome, Autosomal Recessive
|
0.510 |
Biomarker
|
disease |
CTD_human |
|
|
|
Weill-Marchesani Syndrome, Autosomal Dominant
|
0.500 |
Biomarker
|
disease |
MGD |
ADAMTS10-mediated tissue disruption in Weill-Marchesani syndrome.
|
30060141 |
2018 |
Weill-Marchesani Syndrome, Autosomal Dominant
|
0.500 |
Biomarker
|
disease |
CTD_human |
|
|
|
Familial thoracic aortic aneurysm and aortic dissection
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Dwarfism
|
0.120 |
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 |
Dwarfism
|
0.120 |
GeneticVariation
|
disease |
BEFREE |
We identified a homozygous missense mutation, c.41T>A, of the ADAMTS10 gene in a 19-year-old female with typical symptoms of WMS1: proportionate short stature, brachydactyly, joint stiffness, and microspherophakia.
|
25469541 |
2015 |