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Orphanet References OMIM Gene GeneReviews HGMD HGNC
last update : 22-02-2010
Symbol TCN2
Location 22q12.2
Name transcobalamin II deficiency
Corresponding gene TCN2
Main clinical features
  • anemia, megalobastic, severe with thrombocytopenia and neutropenia, methylmalonic acidemia and homocystinuria
  • infant megaloblastic anemia, failure to thrive and to neurological complications
  • also early pancytopenia and diarrhoea
  • Genetic determination
    Function/system disorder hematology
    Type disease
    Gene product
    Name transcobalamin II (TCN2)
    Remark(s) treatment with vitamin B12 prevent neurological long-term sequelae (Ratschmann 2009)