inborn disorder of cobalamin metabolism and transport
MONDO:0019220Mondo
Findings
No curated finding names inborn disorder of cobalamin metabolism and transport yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An inherited metabolic disease affecting cobalamin (vitamin B12) intestinal absorption, transport in the blood, uptake by peripheral cells or cellular metabolism.
Definition from the Mondo Disease Ontology (MONDO:0019220), read 2026-09-29. CC BY 4.0.
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
- Narrower terms (9)
- hereditary intrinsic factor deficiency
- homocystinuria without methylmalonic aciduria
- Imerslund-Grasbeck syndrome
- methylmalonic acidemia due to transcobalamin receptor defect
- methylmalonic aciduria and homocystinuria
- methylmalonic aciduria and/or homocystinuria, cblD type
- transcobalamin I deficiency
- transcobalamin II deficiency
- vitamin B12-responsive methylmalonic acidemia
Other names
3 names
Resolves to: inborn disorder of cobalamin metabolism and transport
- Also called
- inborn error of cobalamin metabolic processinborn vitamin B12 deficiency (disease)rare inborn error of cobalamin metabolic process