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congenital malabsorptive diarrhea 4

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells is an exceedingly rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration, and severe diarrhea unresponsive to various nutrients and formulas, and require home parenteral nutrition. Diabetes mellitus has also been reported.
Uniprot Description A disease characterized by severe, life-threatening watery diarrhea associated with generalized malabsorption and a paucity of enteroendocrine cells.
Mondo Term and Equivalent IDs
MONDO:0012479:  congenital malabsorptive diarrhea 4
MESH:C563673: 
Orphanet:83620: 
SCTID:722392003: 
UMLS:C1835888: