Reactome: A Curated Pathway Database

Defective TCN2 causes hereditary megaloblastic anemia (R-HSA-3359454) [Homo sapiens]


Defective transcobalamin II (produced by the TCN2 gene) results in TCN2 deficiency (MIM:275350), an autosomal recessive disorder with early-onset in infancy characterized by failure to thrive, megaloblastic anemia, and pancytopenia. If left untreated, the disorder can result in mental retardation and neurologic abnormalities (Haberle et al. 2009).

Name Identifier Synonyms
megaloblastic anemia 13382 [megaloblastic anemia, Megaloblastic anemia (disorder), Anaemia - megaloblastic, Megaloblastic anemia NOS (disorder), Megaloblastic anaemia, ANEMIA MEGALOBLASTIC, Megaloblastic anemia NOS, Megaloblastic Anemia, Megaloblastic anemia NOS (disorder), Anaemia - megaloblastic, Megaloblastic anemia, NOS, Megaloblastic anemia NOS]
Literature References
pubMedId Title Journal Year
19373259 TC II deficiency: avoidance of false-negative molecular genetics by RNA-based investigations J. Hum. Genet. 2009