Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:859

Transcobalamin II deficiency

Also called Inherited deficiency of transcobalamin II

Body system
Inborn errors of metabolism
Inheritance pattern
Autosomal recessive
Typical age of onset
Infancy, Neonatal
Estimated prevalence
<1 / 1 000 000 (Worldwide)
Rarity class
<1 / 1 000 000

ORPHA:859 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.

Common signs

  • Acute kidney injury
  • Megaloblastic bone marrow
  • Abnormality of chromosome stability
  • Methylmalonic aciduria
  • Thrombocytopenia
  • Decreased total neutrophil count