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GENATLAS PHENOTYPE
last update : 10-04-2018
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
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense   abnormal protein/loss of function leading to mislocalization of apical and basolateral proteins
    Remark(s)