Symbol
| MVID
|
Location
| 18q21.1
|
Name
|
microvillus inclusion disease |
Other name(s)
|
Davidson disease
microvillus atrophy congenital
Navajo microvillous inclusion disease |
Corresponding gene
|
MYO5B
|
Other symbol(s)
| DIAR2
|
Main clinical features
|
familial enteropathy characterized by protracted diarrhea from birth and hypoplastic villus atrophy, intractable diarrhea of infancy; also late-onset form with first symptoms appearing after three or four months of life
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 |
Genetic determination
| autosomal recessive |
Function/system disorder
| digestive tract/gastrointestinal |
Type
| disease
|