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Imerslund-Gräsbeck syndrome

Disease Export to PDF
Name:
Imerslund-Gräsbeck syndrome
Description:
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.
ORPHAcode:
35858
Synonyms:
Familial megaloblastic anemia
Selective cobalamin malabsorption with proteinuria
XREF(s):
Orphanet
OMIM
ICD-10
OMIM
Analyte(s):
AMN
CUBN
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14