ADAMTSL2, ADAMTS like 2, 9719

N. diseases: 61; N. variants: 12
Disease: Geleophysic dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia 		0.500 GeneticVariation disease BEFREE Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking. 31516831 2019
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia 		0.500 Biomarker disease BEFREE Mice lacking ADAMTSL2 die at birth, which has precluded analysis of postnatal limb development and mechanisms underlying the skeletal anomalies of geleophysic dysplasia. 30738849 2019
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia 		0.500 GeneticVariation disease BEFREE Mutations in the a disintegrin and metalloproteinase with thrombospondin motif-like 2 ( ADAMTSL2) gene are responsible for the autosomal recessive form of geleophysic dysplasia, which is characterized by short stature, short extremities, and skeletal abnormalities. 30303737 2019
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia 		0.500 GeneticVariation disease BEFREE We describe the ocular phenotype of a girl with genetically confirmed recessive geleophysic dysplasia (biallelic ADAMTSL2 mutations). 30415012 2019
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia 		0.500 GeneticVariation disease BEFREE Genetic testing of ADAMTSL2 revealed a previously reported missense mutation as well as a novel nonsense mutation, which can be added to the list of causative mutations in geleophysic dysplasia. 30195254 2018
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia 		0.500 GeneticVariation disease BEFREE We found that tip-toeing gait, long flat philtrum and thin upper upper lip were more consistently found in GD patients with ADAMTSL2 mutations than in those with FBN1 mutations. 29191498 2018
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia 		0.500 GeneticVariation disease BEFREE We discuss these findings in relation to the human disorder geleophysic dysplasia (GD), which also arises from recessive ADAMTSL2 mutations, and recent findings in Adamtsl2-deficient mice. 28158899 2017
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia 		0.500 GeneticVariation disease BEFREE In conclusion, we have identified a novel splicing mutation of ADAMTSL2 carried by a Chinese boy with geleophysic dysplasia type 1. 28917829 2017
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia 		0.500 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
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia 		0.500 GeneticVariation disease BEFREE Here, we present the clinical and histopathologic findings in a child with GD with newly identified ADAMTSL2 mutations. 24251637 2014
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia 		0.500 Biomarker disease BEFREE The genes ADAMTSL2 (a disintegrin-like and metalloprotease with thrombospondin type 1 motif-like 2) and FBN1 (fibrillin 1) were recently identified as causative genes for GD. 23124041 2013
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia 		0.500 GeneticVariation disease BEFREE Small numbers of mutations in ADAMTSL2 have been reported so far in patients with GD type 1 (GD1). 24014090 2013
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia 		0.500 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: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia 		0.500 GeneticVariation disease BEFREE Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. 21415077 2011
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia 		0.500 GeneticVariation disease BEFREE Intriguingly, mutations in ADAMTS [a disintegrin-like and metalloprotease (reprolysin-type) with thrombospondin type 1 motif] family members phenocopy these disorders, leading to recessive WMS (ADAMTS10), WMS-like syndrome (ADAMTS17), IEL (ADAMTSL4 and ADAMTS17) and GD (ADAMTSL2). 21858451 2011
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia 		0.500 GeneticVariation disease BEFREE Sequence analysis of a candidate gene at this locus, ADAMTSL2, which is responsible for the human TGFβ dysregulation syndrome, Geleophysic Dysplasia (GD), uncovered a mutation in exon 7 (c.660C>T; p.R221C) perfectly associated with MLS (p-value=10(-12)). 20862248 2010
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia 		0.500 GeneticVariation disease BEFREE More recently, we have identified ADAMTSL2 mutations in GD. 19396027 2009
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia 		0.500 GeneticVariation disease BEFREE These data suggest that ADAMTSL2 mutations may lead to a dysregulation of TGF-beta signaling and may be the underlying mechanism of geleophysic dysplasia. 18677313 2008
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia 		0.500 Biomarker disease CTD_human These data suggest that ADAMTSL2 mutations may lead to a dysregulation of TGF-beta signaling and may be the underlying mechanism of geleophysic dysplasia. 18677313 2008
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia 		0.500 CausalMutation disease CLINVAR