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GTR Home > Conditions/Phenotypes > Congenital microvillous atrophy

Congenital microvillous atrophy

Synonyms
Congenital familial protracted diarrhea; Congenital familial protracted diarrhea with enterocyte brush-border abnormalities; Davidson disease; Davidson's disease; Diarrhea 2 with microvillus atrophy, with or without cholestasis; Diarrhea with Microvillus Atrophy 2; Familial enteropathy, microvillus; Microvillus atrophy, congenital; Microvillus inclusion disease
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Diarrhea-2 with microvillus atrophy, with or without cholestasis (DIAR2) is characterized by onset of intractable life-threatening watery diarrhea during infancy. Two forms are recognized: early-onset microvillus inclusion disease (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 (Muller et al., 2008). The natural course of MVID is often fatal, but partial or total weaning from parenteral nutrition has been described. For a discussion of genetic heterogeneity of diarrhea, see DIAR1 (214700). [from OMIM]

Available tests

33 tests are in the database for this condition.

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Clinical tests (33 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DIAR2, MVID1, PFIC10, MYO5B
    Summary: myosin VB

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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