Vitamin B12 Deficiency
| Disorder | |
|---|---|
| OMIM #: | #261100 (Click to access OMIM database) |
| Disorder: | Vitamin B12 Deficiency |
| Also known as: | MEGALOBLASTIC ANEMIA 1, PERNICIOUS ANEMIA, JUVENILE, DUE TO SELECTIVE INTESTINAL MALABSORPTION OF VITAMIN B12, WITH PROTEINURIA, IMERSLUND-GRASBECK SYNDROME IGS, ENTEROCYTE COBALAMIN MALABSORPTION, ENTEROCYTE INTRINSIC FACTOR RECEPTOR, DEFECT OF |
| Clinical | |
| Phenotype: | megaloblastic anemia, peripheral neuropathy, gait abnormalities, depression, neurologic dysfunction, malabsorption of vitamin B12, decreased serum vitamin B12 |
| 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: | AMN |
| Base Change: | c.689_733delinsGG |
| Amino Acid Change: | p.(Leu230Argfs*16) |
| Last updated: | 2022-11-11 |
| References |
|---|
| Strauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36. PubMed ID: 19630565 |
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