congenital diarrhea 5 with tufting enteropathy

Summary
Synonym
  • DIAR5
  • congenital diarrhoea 5 with tufting enteropathy
  • congenital familial intractable diarrhea with epithelial or epithelium abnormalities
  • congenital familial intractable diarrhoea with epithelial or epithelium abnormalities
  • congenital tufting enteropathy
  • tufting enteropathy
Definition
A congenital diarrhea characterized by intractable diarrhea of infancy with villous atrophy, absence of inflammation, and intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum that has_material_basis_in homozygous or compound heterozygous mutation in the EPCAM gene on chromosome 2p21.
Super Class
autosomal recessive disease congenital diarrhea
External Links
Disease Ontology
DOID:0060776
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 5 entries
Gene ID Gene Symbol Description Source
1312 COMT catechol-O-methyltransferase
1571 CYP2E1 cytochrome P450 family 2 subfamily E member 1
4099 MAG myelin associated glycoprotein
5621 PRNP prion protein (Kanno blood group)
8694 DGAT1 diacylglycerol O-acyltransferase 1
Related Glycoprotein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024