Reactome: A Curated Pathway Database

Defective GIF causes intrinsic factor deficiency

Stable Identifier
R-HSA-3359457
Type
Pathway
Species
Homo sapiens
Locations in the PathwayBrowser
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).

Literature References
PubMed ID Title Journal Year
Participants
Participant Of
Disease
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]