EPCAM, epithelial cell adhesion molecule, 4072

N. diseases: 328; N. variants: 16
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
0.990 Biomarker disease BEFREE The CTE-associated loss of the cell junctional proteins EpCAM and claudin 7 was also prevented. 31628112 2019
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
0.990 GeneticVariation disease BEFREE Previous studies of CTE in mice expressing mutant EpCAM show neonatal lethality. 31433211 2019
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
0.990 AlteredExpression disease BEFREE We identified compound heterozygous mutations in EPCAM, with loss of EPCAM expression in duodenal enterocytes, in a patient with intractable diarrhea since infancy who was subsequently diagnosed with CTE. 27875355 2018
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
0.990 Biomarker disease GENOMICS_ENGLAND Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years. 27302973 2017
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
0.990 GeneticVariation disease BEFREE Mutations in the EpCAM gene were identified to cause CTE. 26684320 2016
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
0.990 CausalMutation disease CLINVAR Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form. 24142340 2014
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
0.990 AlteredExpression disease BEFREE Mutant EpCAM protein is present at low levels and is mislocalized in the intestine of Epcam(Δ4/Δ4) mice and CTE patients. 24337010 2014
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
0.990 GeneticVariation disease BEFREE Congenital tufting enteropathy (CTE) is a rare and severe enteropathy recently ascribed to mutations in the epcam gene. 24142340 2014
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
0.990 Biomarker disease BEFREE Thus, all epcam mutations lead to loss of cell-surface EpCAM, resulting in CTE. 23462293 2013
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
0.990 CausalMutation disease CLINVAR Absence of cell-surface EpCAM in congenital tufting enteropathy. 23462293 2013
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
0.990 Biomarker disease MGD The aim of this study was to determine the role of TROP1/EPCAM in CTE and to generate an animal model of this disease for molecular investigation and therapy development. 23209569 2012
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
0.990 Biomarker disease GENOMICS_ENGLAND Mutations of the EPCAM gene have been recently identified in Congenital Tufting Enteropathy (CTE), a severe autosomal recessive gastrointestinal insufficiency of childhood requiring parenteral nutrition and occasionally intestinal transplantation. 21315192 2011
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
0.990 GeneticVariation disease BEFREE Mutations of the EPCAM gene have been recently identified in Congenital Tufting Enteropathy (CTE), a severe autosomal recessive gastrointestinal insufficiency of childhood requiring parenteral nutrition and occasionally intestinal transplantation. 21315192 2011
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
0.990 CausalMutation disease CLINVAR Tufting Enteropathy with EpCAM Mutations in Two Siblings. 20981223 2010
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
0.990 GeneticVariation disease UNIPROT Mutations in the gene for EpCAM are responsible for CTE. 18572020 2008
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
0.990 CausalMutation disease CLINVAR Mutations in the gene for EpCAM are responsible for CTE. 18572020 2008
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
0.990 GeneticVariation disease BEFREE Mutations in the gene for EpCAM are responsible for CTE. 18572020 2008
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
0.990 Biomarker disease GENOMICS_ENGLAND Mutations in the gene for EpCAM are responsible for CTE. 18572020 2008
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
0.990 GermlineCausalMutation disease ORPHANET Mutations in the gene for EpCAM are responsible for CTE. 18572020 2008
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
0.990 Biomarker disease CTD_human
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
0.990 Biomarker disease GENOMICS_ENGLAND
Hereditary Nonpolyposis Colorectal Cancer
0.700 GeneticVariation disease BEFREE The 138 analyzable patients were all proven mismatch repair mutation carriers for LS (MLH1 = 33%, MSH2 = 47%, MSH6 = 15%, PMS2 = 4%, and EPCAM = 1%). 31498154 2019
Hereditary Nonpolyposis Colorectal Cancer
0.700 GeneticVariation disease BEFREE Moreover, the mutations in the EpCAM gene lead to congenital tufting enteropathy, severe intestinal epithelium homeostasis disorders, and Lynch and Lynch syndrome. 30628064 2019
Hereditary Nonpolyposis Colorectal Cancer
0.700 GeneticVariation disease BEFREE Being located immediately upstream of the MSH2 gene, EPCAM abnormalities can affect MSH2 and cause Lynch syndrome. 31273487 2019
Hereditary Nonpolyposis Colorectal Cancer
0.700 GeneticVariation disease BEFREE Toward a better definition of EPCAM deletions in Lynch Syndrome: Report of new variants in Italy and the associated molecular phenotype. 30916491 2019