Preferred Label : Diarrhea 5, with tufting enteropathy, congenital;
Symbol : DIAR5;
CISMeF acronym : CTE; DIAR5;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Intestinal epithelial cell dysplasia; CTE; Enteropathy, congenital tufting;
Description : Congenital tufting enteropathy (CTE) is a rare inherited intractable diarrhea of infancy
characterized by villous atrophy and absence of inflammation, with intestinal epithelial
cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum.
CTE presents in the first few months of life with chronic watery diarrhea and failure
to thrive, and most affected individuals require parenteral nutrition for normal growth
and development (summary by Sivagnanam et al., 2008). Semiquantitative assessment
of the epithelial surface in CTE patients revealed that 80 to 90% contained tufts,
compared to only 16% in patients with celiac disease and less than 10% in normal jejunum
(Reifen et al., 1994). For a discussion of phenotypic and genetic heterogeneity of
congenital diarrhea, see DIAR1 (214700).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the epithelial cellular adhesion molecule gene (EPCAM, 185535.0001);
Laboratory abnormalities : Electrolyte disturbances from intractable diarrhea;
Prefixed ID : #613217;
Origin ID : 613217;
UMLS CUI : C2750737;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
