Selected features of inherited diseases discussed.
| . | Imerslund-Gräsbeck Syndrome (MGA1) . | cblE . | cblG . | Methylenetetrahydrofolate Reductase (Severe Deficiency) . |
|---|---|---|---|---|
| *http//www3.ncbi.nlm.nih.gov/Omim/ | ||||
| **postulated to be associated with common diseases | ||||
| OMIM No.* | 261100 | 236270 | 250940 | 236250 |
| Gene(s) | CUBM AMN | MTRR | MTR | MTHFR |
| Chromosome(s) | 10p12.1 14q32 | 5p15.2-p15.3 | 1q43 | 1p36.3 |
| Gene product(s) | Cubilin Amnionless | Methionine synthase reductase | Methionine synthase | Methylenetetrahydrofolate reductase |
| Serum cobalamin | Low | Normal | Normal | Normal |
| Serum folate | Normal | Normal | Normal | Normal or Low |
| Homocysteine elevation | Not a major feature | Yes | Yes | Yes |
| Megaloblastic anemia | Yes | Yes | Yes | No |
| Developmental delay | No | Yes | Yes | Yes |
| Proteinuria | Yes | No | No | No |
| Common polymorphisms** | 66A→G 1298A→C | 2756A→G | 677C→T | |
| . | Imerslund-Gräsbeck Syndrome (MGA1) . | cblE . | cblG . | Methylenetetrahydrofolate Reductase (Severe Deficiency) . |
|---|---|---|---|---|
| *http//www3.ncbi.nlm.nih.gov/Omim/ | ||||
| **postulated to be associated with common diseases | ||||
| OMIM No.* | 261100 | 236270 | 250940 | 236250 |
| Gene(s) | CUBM AMN | MTRR | MTR | MTHFR |
| Chromosome(s) | 10p12.1 14q32 | 5p15.2-p15.3 | 1q43 | 1p36.3 |
| Gene product(s) | Cubilin Amnionless | Methionine synthase reductase | Methionine synthase | Methylenetetrahydrofolate reductase |
| Serum cobalamin | Low | Normal | Normal | Normal |
| Serum folate | Normal | Normal | Normal | Normal or Low |
| Homocysteine elevation | Not a major feature | Yes | Yes | Yes |
| Megaloblastic anemia | Yes | Yes | Yes | No |
| Developmental delay | No | Yes | Yes | Yes |
| Proteinuria | Yes | No | No | No |
| Common polymorphisms** | 66A→G 1298A→C | 2756A→G | 677C→T | |