IEMbase 0789: AMPD3-related erythrocyte AMPD deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 789 |
| Nosology | 16.2.06.01 |
| Nosology code | IEM0012 |
| Gene | AMPD3 |
| External IDs | OMIM:612874; ORPHA:45 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | No exact local target; reject Hereditary_Orotic_Aciduria.yaml neighbor |
| Review date | 2026-07-11 |
IEMbase phenotype signal
IEMbase labels this autosomal recessive record as AMPD3-related erythrocyte adenosine monophosphate deaminase deficiency, with abbreviation EAMPD3. The source phenotype signal is minimal and explicitly states no clinical significance across age groups.
DisMech phenotype coverage
No exact DisMech target was found. The generated hereditary orotic aciduria neighbor is a pyrimidine-metabolism lexical match, not an AMPD3 erythrocyte enzyme-deficiency entry.
Concordance and completeness
Judgement: true local gap, likely low curation priority.
The local knowledge base does not model AMPD3 erythrocyte AMPD deficiency. Because the IEMbase record itself reports no clinical significance, this should not be conflated with symptomatic purine disorders or with unrelated red-cell hemolytic anemia mechanisms.
Curation actions
- Keep IEMbase 0789 unmapped.
- Reject hereditary orotic aciduria and other nucleotide-metabolism neighbors as exact coverage.
- If curated later, record the "no clinical significance" caveat explicitly so it is not over-modeled as a symptomatic disorder.