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Transcobalamin II deficiency
rareTranscobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.
- Identifiers
- MONDO:0010149 OMIM:275350Orphanet:859
- Causal genes
- TCN2
- Part of
- Hereditary anemiaImmune system disorderInborn disorder of cobalamin metabolism and transport
- Also known as
- inherited deficiency of transcobalamin · TCN2 deficiency
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