Orphanet: Transcobalamin deficiency

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Transcobalamin deficiency

Disease 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.


Classification level: Disorder
  • Synonym(s):
    • Inherited deficiency of transcobalamin
    • Transcobalamin II deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D51.2
  • OMIM: 275350
  • UMLS: C0342701
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


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