Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:332

Congenital intrinsic factor deficiency

Also called Congenital pernicious anemia, Gastric intrinsic factor deficiency, Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency, IFD, Intrinsic factor deficiency

Body system
Inborn errors of metabolism
Inheritance pattern
Autosomal recessive, Not applicable
Typical age of onset
Childhood
Estimated prevalence
<1 / 1 000 000 (Worldwide)
Rarity class
<1 / 1 000 000

ORPHA:332 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.

Common signs

  • Megaloblastic anemia
  • Decreased circulating vitamin B12 concentration
  • Dementia
  • Specific learning disability
  • Hyperhomocystinemia
  • Recurrent infections