DISEASES

Disease-gene associations mined from literature

Human genes for microvillus inclusion disease

Microvillus inclusion disease [DOID:0060775]

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.

Synonyms:  microvillus inclusion disease,  DOID:0060775,  microvillus inclusion disorder,  microvillus inclusion syndrome,  microvillus inclusion diseases ...