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Start free with EleplanCongenital intrinsic factor deficiency
ORPHA:332Disease
Also called Congenital pernicious anemia · Gastric intrinsic factor deficiency · Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency · IFD · Intrinsic factor deficiency
What it is
Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Childhood
- Inheritance
- Autosomal recessive, Not applicable
- 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
Common30–79%
6These 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.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
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
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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