Gastric Intrinsic Factor deficiency
| Disorder | |
|---|---|
| OMIM #: | #261000 (Click to access OMIM database) |
| Disorder: | Gastric Intrinsic Factor deficiency |
| Also known as: | GIF deficiency Intrinsic factor deficiency (IFD) Pernicious anemia, congenital, due to defect of intrinsic factor |
| Clinical | |
| Phenotype: | vitamin B12 deficiency, gastrointestinal abnormalities, anemia, splenomegaly, hepatomegaly, peripheral neuropathy, sudden death |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Testing is available at LHSC. Autosomal recessive |
| 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: | del.G, at nucleotide 973 |
| Amino Acid Change: | Frame shift |
| Last updated: | 2023-02-01 |
| 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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