Trait
Megaloblastic anemia
Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts).
Summary
- Also called
- Megaloblastic anaemia
Reference genomeGRCh38hg38
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Get my Genome Test18 genes linked to Megaloblastic anemia
Changes in these genes cause rare conditions in which Megaloblastic anemia is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| CBLIFcobalamin binding intrinsic factor | Always | In 2 conditions |
| CUBNcubilin | Always | In 2 conditions |
| MMADHCmetabolism of cobalamin associated D | Always | In 2 conditions |
| MTHFD1methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 | Always | In 1 condition |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Always | In 1 condition |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Always | In 1 condition |
| SLC19A1solute carrier family 19 member 1 | Always | In 1 condition |
| AMNamnion associated transmembrane protein | Very often (80–99%) | In 2 conditions |
| LMBRD1LMBR1 domain containing 1 | Very often (80–99%) | In 2 conditions |
| MMACHCmetabolism of cobalamin associated C | Very often (80–99%) | In 2 conditions |
| SLC19A2solute carrier family 19 member 2 | Very often (80–99%) | In 1 condition |
| SLC46A1solute carrier family 46 member 1 | Very often (80–99%) | In 1 condition |
| DHFRdihydrofolate reductase | Often (30–79%) | In 1 condition |
| PRDX1peroxiredoxin 1 | Often (30–79%) | In 1 condition |
| FTCDformimidoyltransferase cyclodeaminase | Sometimes (5–29%) | In 2 conditions |
| PHGDHphosphoglycerate dehydrogenase | Sometimes (5–29%) | In 2 conditions |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Not recorded | In 1 condition |
| WFS1wolframin ER transmembrane glycoprotein | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
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Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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