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Imerslund-Grasbeck syndrome
rareImerslund-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.
- Identifiers
- MONDO:0009853 Orphanet:35858
- Part of
- Hereditary anemiaInborn disorder of cobalamin metabolism and transportMegaloblastic anemiaSyndromic disease
- Also known as
- defect of enterocyte intrinsic factor receptor · familial megaloblastic anaemia · familial megaloblastic anemia · Imerslund-Gräsbeck syndrome · juvenile megaloblastic Anaemia
Subtypes
| Disease | Subtypes |
|---|---|
| Imerslund-Grasbeck syndrome type 1 | |
| Imerslund-Grasbeck syndrome type 2 |
Rare disease
Projects
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