EXT1, exostosin glycosyltransferase 1, 2131

N. diseases: 205; N. variants: 63
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome
0.600 GeneticVariation disease BEFREE The GABRD 659 G > A polymorphism may play an important role in the susceptibility of JME and LGS and this polymorphism may also increase the duration of postictal period in JME patients but may decrease the duration of seizure in LGS patients. 29785705 2018
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome
0.600 GeneticVariation disease BEFREE The aim of this research was to present prenatal diagnosis of Langer-Giedion syndrome (LGS/TRPS type II) and Cornelia de Lange syndrome-4 (CDLS4). 26522117 2015
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome
0.600 GeneticVariation disease BEFREE In the March issue of the Journal in 2012, we reported on a girl with Langer-Giedion syndrome (LGS) phenotype and a 7.5 Mb interstitial deletion at 8q23.3q24.13, encompassing the EXT1, but not the TRPS1 gene. 25899858 2015
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome
0.600 GeneticVariation disease BEFREE Langer-Giedion syndrome (LGS; MIM 150230), also called trichorhinophalangeal syndrome type II (TRPS2), is a contiguous gene syndrome caused by a one-copy deletion in the chromosome 8q23-q24 region, spanning the genes TRPS1 and EXT1. 23832104 2013
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome
0.600 GeneticVariation disease BEFREE Even though the deletion of TRPS1 and EXT1 genes is responsible for craniofacial and skeletal features of LGS, there have been previous reports of patients with LGS phenotype and 8q24 deletions leaving the TRPS1 gene intact. 22315192 2012
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome
0.600 GeneticVariation disease BEFREE Langer-Giedion syndrome (LGS) (OMIM 150230) is defined as a contiguous gene syndrome caused by loss of functional copies of the TRPS1 and EXT1 genes usually secondary to 8q microdeletion. 21948702 2011
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome
0.600 GeneticVariation disease BEFREE The deletion included the region for Langer-Giedion syndrome (TRPS1 and EXT1) in the girl only. 19464398 2009
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome
0.600 Biomarker disease BEFREE We report on a boy with an oligo array-cgh characterized small microdeletion involving EXT1 alone but with some features of Langer-Giedion syndrome suggesting a functional disturbance of TRPS1. 18478595 2008
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome
0.600 Biomarker disease BEFREE Molecular analysis revealed that the deletion interval overlaps with the Langer-Giedion syndrome and involves the EXT1 gene and additional genes located distal to EXT1, but probably not encompassing the TRPS1 gene located proximal to EXT1. 12457403 2002
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome
0.600 Biomarker disease BEFREE It maps proximal of EXT1, which is affected in a subgroup of patients with multiple cartilaginous exostoses and deleted in all patients with TRPS type II (TRPS II, or Langer-Giedion syndrome, MIM 150230; ref.2-5). 10615131 2000
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome
0.600 GeneticVariation disease BEFREE The Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II, TRPS II) is characterized by craniofacial dysmorphism and skeletal abnormalities. 7711731 1995
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome
0.600 Biomarker disease GENOMICS_ENGLAND Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). 7550340 1995
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome
0.600 Biomarker disease BEFREE A deletion of 8q24.11-q24.3 in a patient with multiple exostoses was found to overlap the distal end of the LGS deletion region, indicating that the EXT1 gene is distal to the TRPS1 gene and supporting the hypothesis that Langer-Giedion syndrome is due to loss of functional copies of both the TRPS1 and the EXT1 genes. 8530105 1995
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome
0.600 ChromosomalRearrangement disease ORPHANET