Defective CBLIF causes IFD

Stable Identifier
R-HSA-3359457
Type
Pathway
Species
Homo sapiens
Synonyms
Defective CBLIF causes intrinsic factor deficiency
ReviewStatus
5/5
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Defective CBLIF causes IFD
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Defects in cobalamin binding intrinsic factor CBLIF, aka gastric intrinsic factor GIF) cause hereditary intrinsic factor deficiency (IFD, aka congenital pernicious anemia; MIM:261000). IFD is an autosomal recessive disorder characterized by megaloblastic anemia (Tanner et al. 2005).
Literature References
PubMed ID Title Journal Year
15738392 Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene

Oner, C, Tanner, SM, Li, Z, de la Chapelle, A, Altay, C, Perko, JD, Cetin, M, Ismail, EA, Gräsbeck, R, Yurtsever, Z, David, KL, Faivre, L

Proc. Natl. Acad. Sci. U.S.A. 2005
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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