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