CANT1, calcium activated nucleotidase 1, 124583

N. diseases: 111; N. variants: 19
Disease: Desbuquois syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432242
Disease: Desbuquois syndrome
Desbuquois syndrome 		0.600 GeneticVariation disease BEFREE Two genes for DBQD (CANT1 encoding calcium-activated nucleotidase-1 and XYLT1 encoding xylosyltransferase-1) have been reported. 30847897 2019
CUI: C0432242
Disease: Desbuquois syndrome
Desbuquois syndrome 		0.600 GeneticVariation disease BEFREE Type 1 Desbuquois dysplasia is caused by mutations in CANT1 and is distinct from Type 2, caused by mutations in XYLT1, in that the former has unique hand anomalies including accessory phalangeal ossification centers, advanced carpal bone maturation, and/or axial phalangeal deviation. 31587486 2019
CUI: C0432242
Disease: Desbuquois syndrome
Desbuquois syndrome 		0.600 GeneticVariation disease BEFREE Mutations in the calcium activated nucleotidase 1 (CANT1) have been found to be responsible for type I and lately, for the Kim type of Desbuquois dysplasia. 28462984 2017
CUI: C0432242
Disease: Desbuquois syndrome
Desbuquois syndrome 		0.600 Biomarker disease BEFREE DBQD is classified into two types based on the presence (DBQD1) or absence (DBQD2) of characteristic hand abnormalities. 27881841 2017
CUI: C0432242
Disease: Desbuquois syndrome
Desbuquois syndrome 		0.600 Biomarker disease BEFREE The MED phenotype is thus allelic to the more severe Desbuquois dysplasia phenotype and the results identify CANT1 as a second locus for recessively inherited MED. 28742282 2017
CUI: C0432242
Disease: Desbuquois syndrome
Desbuquois syndrome 		0.600 GeneticVariation disease BEFREE Mutations in the calcium-activated nucleotidase 1 (CANT1) gene have been reported in all three types of DBQD. 25486376 2015
CUI: C0432242
Disease: Desbuquois syndrome
Desbuquois syndrome 		0.600 GeneticVariation disease BEFREE Based on the presence of additional hand anomalies, we have previously distinguished DBQD type 1 and identified CANT1 (calcium activated nucleotidase 1) mutations as responsible for DBQD type 1. 24581741 2014
CUI: C0432242
Disease: Desbuquois syndrome
Desbuquois syndrome 		0.600 GeneticVariation disease BEFREE We screened CANT1 and CHST3 in 38 DD cases (6 type 1 patients, 1 Kim variant, and 31 type 2 patients) and found CANT1 mutations in all DD type 1 cases, the Kim variant and in one atypical DD type 2 expanding the clinical spectrum of hand anomalies observed with CANT1 mutations. 22539336 2012
CUI: C0432242
Disease: Desbuquois syndrome
Desbuquois syndrome 		0.600 GeneticVariation disease BEFREE Catel-Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium-activated nucleotidase 1) mutations and also with "chondrodysplasia with joint dislocations, gPAPP type" due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, brachydactyly and cleft palate. 22887726 2012
CUI: C0432242
Disease: Desbuquois syndrome
Desbuquois syndrome 		0.600 GermlineCausalMutation disease ORPHANET We screened CANT1 and CHST3 in 38 DD cases (6 type 1 patients, 1 Kim variant, and 31 type 2 patients) and found CANT1 mutations in all DD type 1 cases, the Kim variant and in one atypical DD type 2 expanding the clinical spectrum of hand anomalies observed with CANT1 mutations. 22539336 2012
CUI: C0432242
Disease: Desbuquois syndrome
Desbuquois syndrome 		0.600 GeneticVariation disease BEFREE In a previous study, we found a CANT1 (for calcium-activated nucleotidase 1) mutation, c.676G>A in five DBQD families. 21412251 2011
CUI: C0432242
Disease: Desbuquois syndrome
Desbuquois syndrome 		0.600 GeneticVariation disease BEFREE The clinical-radiographic spectrum produced by CANT1 mutations must be extended to include DD type 2 and Kim variant. 21037275 2011
CUI: C0432242
Disease: Desbuquois syndrome
Desbuquois syndrome 		0.600 GeneticVariation disease BEFREE Mutation of CANT1 causes Desbuquois dysplasia. 20425819 2010
CUI: C0432242
Disease: Desbuquois syndrome
Desbuquois syndrome 		0.600 GeneticVariation disease BEFREE Identification of CANT1 mutations in Desbuquois dysplasia. 19853239 2009
CUI: C0432242
Disease: Desbuquois syndrome
Desbuquois syndrome 		0.600 Biomarker disease CTD_human