congenital diarrhea 5 with tufting enteropathy
Findings
No curated finding names congenital diarrhea 5 with tufting enteropathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.
Definition from the Mondo Disease Ontology (MONDO:0013184), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
28 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Crypt hyperplasiaHPOHP:0034588
- 5 of 5 reported patients
- Intractable diarrheaHPOHP:0002041
- 5 of 5 reported patients
- Villous atrophyHPOHP:0011473
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Chronic diarrheaHPOHP:0002028
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- 3 of 5 reported patients
- Very frequent (80% to 99% of cases)
- MalabsorptionHPOHP:0002024
- Very frequent (80% to 99% of cases)
Show the remaining 16
- SteatorrheaHPOHP:0002570
- Frequent (30% to 79% of cases)
- Weight lossHPOHP:0001824
- Frequent (30% to 79% of cases)
- Abnormal large intestinal mucosa morphologyHPOHP:0025090
- Occasional (5% to 29% of cases)
- Abnormality of the skinHPOHP:0000951
- Occasional (5% to 29% of cases)
- ArthritisHPOHP:0001369
- Occasional (5% to 29% of cases)
- CataractHPOHP:0000518
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- EPCAMHGNC:11529
- Definitive · Ambry Genetics · Autosomal recessive · 2017
- Definitive · G2P · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
9 names
Resolves to: congenital diarrhea 5 with tufting enteropathy
- Also called
- congenital tufting enteropathyDIAR5EPCAM secretory diarrheaEPCAM secretory diarrhoeaIEDintestinal epithelial dysplasiasecretory diarrhea caused by mutation in EPCAMsecretory diarrhoea caused by mutation in EPCAMtufting enteropathy