Amish, Mennonite, and Hutterite
Genetic Disorder Database

Gastric Intrinsic Factor (GIF) deficiency

Disorder
OMIM #: #261000  (Click to access OMIM database)
Disorder: Gastric Intrinsic Factor (GIF) deficiency 
Also known as: Intrinsic factor deficiency (IFD)
Pernicious anemia, congenital, due to defect of intrinsic factor 
Clinical
Phenotype:  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:

Testing is available at LHSC.

 

Mutations
1   Old Order Mennonite  
Gene: GIF
Base Change: c.79+1G>A
Amino Acid Change: splicing
2   Old Order Mennonite  
Gene: GIF
Base Change: delG, at nucleotide 973
Amino Acid Change: Frame shift
Last updated: 2018-04-19 

References
Ferrand A, Siu VM, Rupar CA, Napier MP, Al-Dirbashi OY, Chakraborty P, Prasad C. (2014) Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B12 Deficiency in the Old Order Mennonite Population of Southwestern Ontario. JIMD Rep Oct 12.
PubMed ID: 25308559 
Tanner SM, Li Z, Perko JD, Oner C, Cetin M, Altay C, Yurtsever Z, David KL, Faivre L, Ismail EA, Gräsbeck R, de la Chapelle A. (2005) Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene. Proc Natl Acad Sci USA Mar 15;102(11):4130-3.
PubMed ID: 15738392 

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