Diarrhea 2, with Microvillus Atrophy, with or without Cholestasis

Alternative Names

  • DIAR2
  • Diarrhea 2, with Microvillus Atrophy
  • Microvillus Inclusion Disease 1
  • MVID1
  • Microvillus Atrophy, Congenital
  • Davidson Disease
  • Congenital Familial Protracted Diarrhea with Enterocyte Brush-Border Abnormalities

Associated Genes

Myosin VB
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WHO-ICD-10 version:2010

Certain conditions originating in the perinatal period

Digestive system disorders of fetus and newborn

OMIM Number

251850

Mode of Inheritance

Autosomal recessive

Gene Map Locus

18q21.1

Description

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. The natural course of MVID is often fatal, but partial or total weaning from parenteral nutrition has been described. [From OMIM]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
251850.G.1United Arab EmiratesUnknownYes Protracted diarrheaNM_001080467.3:c.1966C>T, NM_001080467.3:c.4844C>THomozygousAutosomal, RecessiveAldrian et al. 2021 Three Emirati patien...
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