Congenital Diarrhoea

Gene: MYO5B

Green List (high evidence)

Microvillus inclusion disease (MVID) is characterized by onset of intractable life-threatening watery diarrhea during infancy. Two forms are recognized: early-onset MVID with diarrhea beginning in the neonatal period, and late-onset, with first symptoms appearing after 3 or 4 months of life. Definite diagnosis is made by transmission electron microscopy demonstrating shortening or absence of apical microvilli with pathognomonic microvillus inclusions in mature enterocytes and peripheral accumulation of periodic acid-Schiff (PAS)-positive granules or vesicles in immature enterocytes.

Well established gene-disease association.

Created: 4 Jan 2021, 11:32 p.m. | Last Modified: 4 Jan 2021, 11:32 p.m.

Panel Version: 0.33

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microvillus inclusion disease, MIM# 251850

Publications

• 30564347
• 29266534