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Gräsbeck-Imerslund disease

Disease definition

Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood.

ORPHA:35858

  • Synonym(s):
    • Familial megaloblastic anemia
    • Selective cobalamin malabsorption with proteinuria
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: D51.1
  • OMIM: 261100
  • UMLS: -
  • MeSH: -
  • GARD: 7006
  • MedDRA: -

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