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microvillus inclusion disease

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description Microvillus inclusion disease (MVID) is a very rare, severe, malabsorbative syndrome characterized clinically by protracted or intractable neonatal secretory diarrhea and histologically by inclusion bodies on the intestinal epithelium.
Uniprot Description A disease characterized by onset of intractable life-threatening watery diarrhea during infancy. Two forms are recognized: early-onset microvillus inclusion disease with diarrhea beginning in the neonatal period, and late-onset, with first symptoms appearing after 3 or 4 months of life.
Disease Ontology Description A congenital diarrhea characterized by onset of intractable life-threatening watery diarrhea during infancy, lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli that has_material_basis_in homozygous or compound heterozygous mutation in the MYO5B gene on chromosome 18q21.
Mondo Term and Equivalent IDs
MONDO:0009635:  microvillus inclusion disease
GARD:0007039: 
Orphanet:2290: 
SCTID:235729009: 
UMLS:C0341306: