MeSH Browser

MeSH Supplementary: Microvillus inclusion disease
Unique ID: C537470
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537470
Entry Term(s): Congenital Familial Protracted Diarrhea With Enterocyte Brush-Border Abnormalities; Davidson disease; Diarrhea 2, With Microvillus Atrophy; Intractable diarrhea of infancy; Microvillus atrophy, congenital
Registry Number: 0
Heading Mapped to: *Malabsorption Syndromes; Microvilli / *pathology; *Mucolipidoses
Frequency: 86
Note: A congenital hereditary disorder with autosomal recessive inheritance. It is characterized by intractable watery DIARRHEA during infancy. The early onset form manisfests in the neonatal period and late-onset appears within the first 3 or 4 months of life. Definite diagnosis is made by TRANSMISSION ELECTRON MICROSCOPY, where shortening or absence of apical microvilli with pathognomonic microvillus inclusions in mature ENTEROCYTES and peripheral accumulation of PAS REACTION - positive granules or vesicles in immature ENTEROCYTES is observed. Mutations in the MYO5B gene have been identified. OMIM: 251850
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Microvillus inclusion disease MeSH Supplementary Concept Data 2024