IEMbase 0791: AK1-related adenylate kinase 1 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 791 |
| Nosology | 16.2.13.01 |
| Nosology code | IEM0019 |
| Gene | AK1 |
| External IDs | OMIM:612631; ORPHA:86817 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | No exact local target; reject Adenosine_Kinase_Deficiency.yaml neighbor |
| Review date | 2026-07-11 |
IEMbase phenotype signal
IEMbase labels this autosomal recessive record as AK1-related adenylate kinase 1 deficiency, with alternate name hemolytic anemia due to adenylate kinase deficiency. The signal includes very low RBC adenylate kinase activity, non-spherocytic hemolytic anemia with basophilic stippling, basophilic stippling as a smear finding, and possible psychomotor delay.
DisMech phenotype coverage
No exact DisMech target was found. Local hemolytic-anemia entries cover many
other etiologies, and Lead_Poisoning.yaml includes basophilic stippling and
acquired pyrimidine 5'-nucleotidase effects, but those are not AK1 deficiency.
The generated adenosine kinase deficiency neighbor is an enzyme-name/purine
metabolism neighbor, not a match.
Concordance and completeness
Judgement: true local gap.
The local knowledge base lacks AK1, adenylate kinase 1 activity, and the specific inherited nonspherocytic hemolytic anemia phenotype. General hemolytic anemia, lead toxicity, or adenosine kinase deficiency should not be used as coverage.
Curation actions
- Keep IEMbase 0791 unmapped.
- Reject
Adenosine_Kinase_Deficiency.yaml, lead poisoning, and generic hemolytic anemia entries as exact coverage. - Future curation should preserve RBC adenylate kinase activity, basophilic stippling, nonspherocytic hemolytic anemia, and the possible psychomotor delay prompt.