IEMbase 0145: HPRT1-related hypoxanthine guanine phosphoribosyltransferase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 145 |
| Nosology | 16.2.11.01 |
| Gene | HPRT1 |
| External IDs | OMIM:300322; OMIM:308000; ORPHA:206428 |
| Generated mapping | MAPPED to Lesch-Nyhan_Syndrome.yaml |
| Candidate DisMech targets | Lesch-Nyhan_Syndrome.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as HPRT1-related hypoxanthine guanine phosphoribosyltransferase deficiency, with alternate labels Lesch-Nyhan syndrome and Kelley-Seegmiller syndrome. Treatability is marked yes.
The biochemical rows include markedly decreased red-cell HGPRT activity, increased plasma and urinary hypoxanthine, increased urinary xanthine, increased plasma and urinary uric acid, and increased urinary AICA riboside. Clinical rows include gouty arthritis, hematuria, acute renal failure, urolithiasis, intellectual disability, action dystonia, choreoathetosis, pyramidal signs, spasticity, self-mutilation, cerebral palsy wording, urinary infections, and renal/urologic complications.
DisMech phenotype coverage
Lesch-Nyhan_Syndrome.yaml is the correct target. It models HPRT1 deficiency as
an X-linked purine-salvage disorder with HPRT enzyme deficiency, purine
overproduction, hyperuricemia and hyperuricosuria, gout, nephrolithiasis,
renal insufficiency, acute kidney injury, hematuria, dystonia, choreoathetosis,
spasticity, intellectual disability, and self-injurious behavior.
The local entry also distinguishes classic loss-of-function Lesch-Nyhan disease from hypomorphic Kelley-Seegmiller variants and includes treatment branches for urate lowering and neurobehavioral management.
Concordance and completeness
Judgement: correct mapping with high concordance.
The local entry is broader and more mechanistic than IEMbase for basal-ganglia and treatment coverage. IEMbase is more granular for compartment-specific purine metabolites, especially hypoxanthine, xanthine, and AICA riboside. Those are useful biomarker refinement leads, but they do not change the mapping.
Curation actions
- Keep the mapping to
Lesch-Nyhan_Syndrome.yaml. - Treat the IEMbase Kelley-Seegmiller label as already conceptually covered by the local hypomorphic HPRT1 variant discussion.
- Consider future biomarker refinement for hypoxanthine, xanthine, and AICA riboside compartment-specific rows.