Intestinal epithelial dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: ENTEROPATHY, CONGENITAL TUFTING
INTESTINAL EPITHELIAL CELL DYSPLASIA
CTE
IED
DIAR5
Congenital familial intractable diarrhea with epithelial or epithelium abnormalities
Tufting enteropathy
Number of Symptoms 11
OrphanetNr: 92050
OMIM Id: 613217
ICD-10: P78.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital enteropathy involving intestinal mucosa development
 -Rare gastroenterologic disease
 -Rare genetic disease
Genetic intractable diarrhea of infancy
 -Rare genetic disease
Intractable diarrhea of infancy
 -Rare gastroenterologic disease

Symptom Information: Sort by abundance 

1
(HPO:0001369) Arthritis rare [HPO:skoehler] 44 / 7739
2
(HPO:0011473) Villous atrophy 14 / 7739
3
(HPO:0002041) Intractable diarrhea 4 / 7739
4
(HPO:0001508) Failure to thrive 454 / 7739
5
(HPO:0001518) Small for gestational age rare [HPO:skoehler] 107 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
(OMIM) Electrolyte disturbances from intractable diarrhea 1 / 7739
8
(OMIM) Dependent on total parenteral nutrition (TPN) 1 / 7739
9
(OMIM) Arthritis, chronic inflammatory (in some patients) 1 / 7739
10
(OMIM) Crowded epithelial cells forming tufts 1 / 7739
11
(OMIM) No lamina propria mononuclear cell infiltration 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Reifen et al. (1994) described 3 children with protracted, watery diarrhea beginning in early infancy in whom they identified distinct histologic and ultrastructural characteristics that they designated 'tufting enteropathy.' The 3 children presented at 1, 2, and 4 ...
Molecular genetics OMIM In a kindred of Mexican American descent in which 2 boys who were double second cousins had congenital tufting enteropathy (CTE) mapping to a 6.5-Mb interval on chromosome 2, Sivagnanam et al. (2008) identified homozygosity for a splice ...
Population genetics OMIM Goulet et al. (2007) estimated the prevalence of congenital tufting enteropathy at 1 in 50,000 to 1 in 100,000 live births in western Europe. The prevalence is higher in areas with a high degree of consanguinity and in ...