Defective TCN2 causes TCN2 deficiency

Stable Identifier
R-HSA-3359454
Type
Pathway
Species
Homo sapiens
Synonyms
Defective TCN2 causes hereditary megaloblastic anemia
ReviewStatus
5/5
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Defective TCN2 causes TCN2 deficiency
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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).
Literature References
PubMed ID Title Journal Year
19373259 TC II deficiency: avoidance of false-negative molecular genetics by RNA-based investigations

Häberle, J, Linnebank, M, Koch, HG, Pauli, S, Berning, C

J. Hum. Genet. 2009
Participants
Events
Participates
as an event of
Disease
Name Identifier Synonyms
megaloblastic anemia DOID: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
Authored
Jassal, B  (2013-05-13)
Reviewed
Watkins, D  (2013-08-14)
Created
Jassal, B  (2013-05-13)
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