Reactome: A Curated Pathway Database

Defective GIF causes intrinsic factor deficiency (R-HSA-3359457)

Species Homo sapiens

Summation

Defects in 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).

Locations in the PathwayBrowser
Diseases
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
15738392 Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene Proc. Natl. Acad. Sci. U.S.A. 2005