Transcobalamin deficiency

Orpha code: 859OMIM code: 275350

Definition

Transcobalamin 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.

Disease data
Classification

Disease

Synonyms
Inherited deficiency of transcobalamin
Niedobór transkobalaminy II
Wrodzony Niedobór transkobalaminy
Transcobalamin II deficiency
ORPHA code
859
OMIM code
275350
ICD10 code
D51.2
ICD11 code
3A01.0

No additional description.

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