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Microvillus inclusion disease MeSH Supplementary Concept Data 2025


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 Numbers
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 Preferred
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