congenital diarrhea 5 with tufting enteropathy

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Disease Overview

Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.


Synonyms

  • DIAR5
  • EPCAM secretory diarrhea
  • EPCAM secretory diarrhoea
  • IED
  • congenital diarrhea 5 with tufting enteropathy
  • congenital enteropathy
  • congenital familial intractable diarrhea with enterocytes assembly abnormalities
  • congenital familial intractable diarrhea with epithelial or epithelium abnormalities
  • congenital familial intractable diarrhoea with enterocytes assembly abnormalities
  • congenital familial intractable diarrhoea with epithelial or epithelium abnormalities
  • congenital tufting enteropathy
  • diarrhea 5, with tufting enteropathy, congenital
  • diarrhoea 5, with tufting enteropathy, congenital
  • enteropathy, congenital tufting
  • intestinal epithelial cell dysplasia
  • intestinal epithelial dysplasia
  • secretory diarrhea caused by mutation in EPCAM
  • secretory diarrhoea caused by mutation in EPCAM
  • tufting enteropathy

GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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