IEMbase 0146: APRT-related adenine phosphoribosyltransferase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 146 |
| Nosology | 16.2.12.01 |
| Gene | APRT |
| External IDs | OMIM:102600; ORPHA:976 |
| Generated mapping | MAPPED to Adenine_Phosphoribosyltransferase_Deficiency.yaml |
| Candidate DisMech targets | Adenine_Phosphoribosyltransferase_Deficiency.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as APRT-related adenine phosphoribosyl transferase deficiency, with alternate label 2,8-dihydroxyadenine urolithiasis and abbreviation APRTD. Treatability is marked yes.
The biochemical rows include decreased red-cell APRT activity, increased urinary 2,8-dihydroxyadenine, and increased urinary adenine. Clinical rows include hematuria, renal colic, urolithiasis, acute renal failure, and chronic renal failure.
DisMech phenotype coverage
Adenine_Phosphoribosyltransferase_Deficiency.yaml is the correct target. It
models biallelic APRT loss of function, absent or reduced red-cell APRT
activity, adenine conversion to 2,8-dihydroxyadenine by xanthine
oxidoreductase, urinary 2,8-DHA hyperexcretion, crystalluria, urolithiasis,
obstructive stone disease, hematuria, renal insufficiency, acute kidney injury,
chronic kidney disease, and xanthine oxidoreductase inhibitor therapy.
Concordance and completeness
Judgement: correct mapping with high concordance.
The IEMbase and DisMech profiles agree on the proximal enzyme defect and renal crystal/stone phenotype. IEMbase is compact but matches the local pathograph well. DisMech is substantially richer for crystal nephropathy, diagnostic methods, and treatment mechanism.
Curation actions
- Keep the mapping to
Adenine_Phosphoribosyltransferase_Deficiency.yaml. - Consider adding a more explicit urinary adenine marker only if supported by cited evidence during future biomarker refinement.