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GENATLAS PHENOTYPE
last update : 12-12-2018
Symbol MGA1
Location 14q32.3
Name megaloblastic anemia 1
Other name(s)
  • Imerslund-Grasbeck syndrome 1
  • enterocyte cobalamin malabsorption
  • Corresponding gene AMN
    Other symbol(s) IGS1
    Main clinical features
  • selective intestinal Vit B12 malabsorption defect that is characterized by the frequent association of juvenile megaloblastic anaemia and a benign proteinuria of the tubular type
  • pernicious anemia juvenile with selective intestinal malabsorption of vitamin B12 and proteinuria
  • therapy consists of periodic parenteral administration of Vit B12 that restores normal metabolism and haematopoiesis
  • Genetic determination autosomal recessive
    Function/system disorder hematology
    digestive tract/gastrointestinal
    Type disease
    Remark(s)