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 |