Transcobalamin deficiency

Orpha code: 859OMIM code: 275350

Definicja

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
Klasyfikacja

Disease

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

No additional description.

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