CHST3, carbohydrate sulfotransferase 3, 9469

N. diseases: 214; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1837657
Disease: Spondyloepiphyseal dysplasia, Omani type
Spondyloepiphyseal dysplasia, Omani type 		0.750 GeneticVariation disease BEFREE Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families. 27753269 2017
CUI: C1837657
Disease: Spondyloepiphyseal dysplasia, Omani type
Spondyloepiphyseal dysplasia, Omani type 		0.750 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1837657
Disease: Spondyloepiphyseal dysplasia, Omani type
Spondyloepiphyseal dysplasia, Omani type 		0.750 GeneticVariation disease BEFREE We also identified in one DD type 2 case CHST3 mutation supporting the phenotype overlap with SDCD. 22539336 2012
CUI: C1837657
Disease: Spondyloepiphyseal dysplasia, Omani type
Spondyloepiphyseal dysplasia, Omani type 		0.750 Biomarker disease GENOMICS_ENGLAND We conclude that CHST3 deficiency presents at birth with congenital dislocations of knees, hips, and elbows, and is often diagnosed initially as Larsen syndrome, humero-spinal dysostosis, or chondrodysplasia with dislocations. 20830804 2010
CUI: C1837657
Disease: Spondyloepiphyseal dysplasia, Omani type
Spondyloepiphyseal dysplasia, Omani type 		0.750 Biomarker disease BEFREE We recently reported on the deficiency of carbohydrate sulfotransferase 3 (CHST3; chondroitin-6-sulfotransferase) in six subjects diagnosed with recessive Larsen syndrome or humero-spinal dysostosis [Hermanns et al.(2008); Am J Hum Genet 82:1368-1374]. 20830804 2010
CUI: C1837657
Disease: Spondyloepiphyseal dysplasia, Omani type
Spondyloepiphyseal dysplasia, Omani type 		0.750 GeneticVariation disease BEFREE Here we describe the identification of a mutation (857T > C predicting the substitution L286P) in CHST3 in a Turkish family and extend the clinical phenotype of SED-Omani type to include congenital joint dislocation, club feet, ventricular septal defect, deafness, metacarpal shortening and accessory carpal ossification centers. 18698629 2008
CUI: C1837657
Disease: Spondyloepiphyseal dysplasia, Omani type
Spondyloepiphyseal dysplasia, Omani type 		0.750 GeneticVariation disease UNIPROT Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. 18513679 2008
CUI: C1837657
Disease: Spondyloepiphyseal dysplasia, Omani type
Spondyloepiphyseal dysplasia, Omani type 		0.750 Biomarker disease BEFREE Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. 18513679 2008
CUI: C1837657
Disease: Spondyloepiphyseal dysplasia, Omani type
Spondyloepiphyseal dysplasia, Omani type 		0.750 GeneticVariation disease UNIPROT Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. 15215498 2004
CUI: C1837657
Disease: Spondyloepiphyseal dysplasia, Omani type
Spondyloepiphyseal dysplasia, Omani type 		0.750 GeneticVariation disease CLINVAR
CUI: C1837657
Disease: Spondyloepiphyseal dysplasia, Omani type
Spondyloepiphyseal dysplasia, Omani type 		0.750 Biomarker disease GENOMICS_ENGLAND
CUI: C1837657
Disease: Spondyloepiphyseal dysplasia, Omani type
Spondyloepiphyseal dysplasia, Omani type 		0.750 Biomarker disease GENOMICS_ENGLAND
CUI: C1837657
Disease: Spondyloepiphyseal dysplasia, Omani type
Spondyloepiphyseal dysplasia, Omani type 		0.750 Biomarker disease CTD_human
CUI: C1837657
Disease: Spondyloepiphyseal dysplasia, Omani type
Spondyloepiphyseal dysplasia, Omani type 		0.750 CausalMutation disease CLINVAR
CUI: C1837657
Disease: Spondyloepiphyseal dysplasia, Omani type
Spondyloepiphyseal dysplasia, Omani type 		0.750 Biomarker disease GENOMICS_ENGLAND
CUI: C0038015
Disease: Spondyloepiphyseal Dysplasia
Spondyloepiphyseal Dysplasia 		0.620 Biomarker disease CTD_human Whole exome sequencing detects CHST3 mutation in patient with acute promyelocytic leukemia: A case report. 30200136 2018
CUI: C0038015
Disease: Spondyloepiphyseal Dysplasia
Spondyloepiphyseal Dysplasia 		0.620 GeneticVariation disease BEFREE Mutations in CHST3 have been previously reported to be associated with a rare phenotype of skeleton dysplasia, known as Spondyloepiphyseal dysplasia. 30200136 2018
CUI: C0038015
Disease: Spondyloepiphyseal Dysplasia
Spondyloepiphyseal Dysplasia 		0.620 GeneticVariation disease BEFREE A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred. 26572954 2016
CUI: C0038015
Disease: Spondyloepiphyseal Dysplasia
Spondyloepiphyseal Dysplasia 		0.620 Biomarker disease GENOMICS_ENGLAND
CUI: C0038015
Disease: Spondyloepiphyseal Dysplasia
Spondyloepiphyseal Dysplasia 		0.620 Biomarker disease HPO
CUI: C2931649
Disease: Larsen syndrome, recessive type
Larsen syndrome, recessive type 		0.320 GermlineCausalMutation disease ORPHANET Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features. 20830804 2010
CUI: C2931649
Disease: Larsen syndrome, recessive type
Larsen syndrome, recessive type 		0.320 Biomarker disease BEFREE We recently reported on the deficiency of carbohydrate sulfotransferase 3 (CHST3; chondroitin-6-sulfotransferase) in six subjects diagnosed with recessive Larsen syndrome or humero-spinal dysostosis [Hermanns et al.(2008); Am J Hum Genet 82:1368-1374]. 20830804 2010
CUI: C2931649
Disease: Larsen syndrome, recessive type
Larsen syndrome, recessive type 		0.320 Biomarker disease BEFREE Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. 18513679 2008
CUI: C0013366
Disease: Dyschondroplasias
Dyschondroplasias 		0.300 Biomarker group CTD_human Whole exome sequencing detects CHST3 mutation in patient with acute promyelocytic leukemia: A case report. 30200136 2018
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome 		0.300 Biomarker disease CTD_human Whole exome sequencing detects CHST3 mutation in patient with acute promyelocytic leukemia: A case report. 30200136 2018