microvillus inclusion disease

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 h

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.

Signs and symptoms

• Protracted diarrhea
• Abnormal intestine morphology
• Villous atrophy
• Malnutrition
• Dehydration
• Growth delay

Also known as: Davidson disease; MVD; congenital familial protracted diarrhea with enterocyte brush-border abnormalities; congenital microvillus atrophy; diarrhea 2 with microvillus atrophy