congenital malabsorptive diarrhea 4
MeSH: C563673ORPHA: 83620
Overview
congenital diarrhea characterized by chronic unremitting malabsorptive diarrhea and a profound dysgenesis of the enteroendocrine cells that has material basis in mutation in the gene encoding neurogenin-3 (NEUROG3) on chromosome 10q21.3
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 malabsorptive diarrhea 4, sourced from HPO and Orphanet clinical annotations.
DehydrationVomitingDiarrheaMalabsorptionHyperchloremic metabolic acidosisPortal hypertensionCholestatic liver diseaseAbnormal cellular phenotypeType I diabetes mellitus
Classification & Codes
MeSH Code
C563673Orphanet Code
ORPHA:83620congenital malabsorptive diarrhea 4
| MeSH | C563673 |
| Orphanet | ORPHA:83620 |
| Treatments | 0 drug(s) |
| Symptoms on record | 9 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO