congenital diarrhea 5 with tufting enteropathy
MeSH: C567703ORPHA: 92050
Overview
Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with congenital diarrhea 5 with tufting enteropathy, sourced from HPO and Orphanet clinical annotations.
Failure to thriveMalabsorptionChronic diarrheaVillous atrophyIrritabilityWeight lossDehydrationSteatorrheaAbdominal distentionSecretory diarrheaAbnormal small intestinal mucosa morphologyElevated fecal osmolalityCataractPhotophobiaAbnormality of the skinArthritisAbnormal large intestinal mucosa morphologyCorneal erosionOrofacial cleftChoanal atresiaOptic disc colobomaVomitingAnal atresiaCholestatic liver diseaseSkeletal dysplasiaPunctate keratitis
Classification & Codes
MeSH Code
C567703Orphanet Code
ORPHA:92050congenital diarrhea 5 with tufting enteropathy
| MeSH | C567703 |
| Orphanet | ORPHA:92050 |
| Treatments | 0 drug(s) |
| Symptoms on record | 26 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO