Orphanet: Congenital intrinsic factor deficiency

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Congenital intrinsic factor deficiency

Disease definition

Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.


Classification level: Disorder
  • Synonym(s):
    • Congenital pernicious anemia
    • Gastric intrinsic factor deficiency
    • Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency
    • IFD
    • Intrinsic factor deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive or Not applicable 
  • Age of onset: Childhood
  • ICD-10: D51.0
  • OMIM: 243320  261000
  • UMLS: C0340957  C1394891
  • MeSH: -
  • GARD: 3024
  • MedDRA: 10070440

Detailed information


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