Imerslund-Gräsbeck syndrome

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Imerslund-Gräsbeck syndrome

ORPHA:35858Disease

Also called Familial megaloblastic anemia · Selective cobalamin malabsorption with proteinuria

What it is

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.

Key facts

Prevalence
1-9 / 1 000 000 (Europe)
Age of onset
Childhood
Inheritance
Autosomal recessive
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes

AMNDisease-causing germline mutation(s)
CUBNDisease-causing germline mutation(s)

ICD-10 codes

D51.1filed under a broader ICD-10 category

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 7006MESH C538556MONDO 0009853OMIM 261100OMIM 618882UMLS C4551825

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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