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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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Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Defects in vitamin and cofactor metabolism (Homo sapiens)
Defects in cobalamin (B12) metabolism (Homo sapiens)
Defective TCN2 causes TCN2 deficiency (Homo sapiens)
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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
Defective TCII does not bind Cbl in the circulation
(Homo sapiens)
Participates
as an event of
Defects in cobalamin (B12) metabolism (Homo sapiens)
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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