microvillus inclusion disease

Term ID

DOID:0060775

Synonyms

• congenital familial protracted diarrhea with enterocyte brush-border abnormalities
• congenital microvillus atrophy
• Davidson disease
• diarrhea 2 with microvillus atrophy
• intractable diarrhea of infancy
• MVD

Definition

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. https://www.ncbi.nlm.nih.gov/pubmed/18724368

References

• GARD:7039
• ICD10CM:P78.3
• MESH:C537470
• OMIM:251850
• ORDO:2290

Ontology

Human Disease   ( DOID:0060775 )