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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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04156 | Major prion protein | |
| P20916 | Myelin-associated glycoprotein | |
| P21964 | Catechol O-methyltransferase |
