Imerslund-Gräsbeck syndrome

Orpha code: 35858OMIM code: 618882

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.

Disease data
Classification

Disease

Synonyms
Familial megaloblastic anemia
Rodzinna niedokrwistość megaloblastyczna
Selektywne złe wchłanianie kobalaminy z białkomoczem
Selective cobalamin malabsorption with proteinuria
ORPHA code
35858
OMIM code
618882
ICD10 code
D51.1
ICD11 code
-

No additional description.

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