IEMbase 0152: UMPS-related hereditary orotic aciduria
Scope
| Field | Value |
|---|---|
| IEMbase ID | 152 |
| Nosology | 16.1.03.01 |
| Gene | UMPS |
| External IDs | OMIM:258900; ORPHA:30 |
| Generated mapping | MAPPED to Hereditary_Orotic_Aciduria.yaml |
| Candidate DisMech targets | Hereditary_Orotic_Aciduria.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as UMPS-related uridine monophosphate synthase deficiency, with alternate labels hereditary orotic aciduria and orotate phosphoribosyltransferase deficiency. Treatability is marked yes.
The biochemical rows include decreased red-cell UMPS/OPRT activity, increased plasma orotic acid, markedly increased urinary orotic acid, and reticulocyte abnormality. Clinical rows include megaloblastic anemia, hypochromia, anisocytosis, poikilocytosis, developmental delay, failure to thrive, diarrhea, T-cell immunodeficiency, recurrent infections, hematuria, and urolithiasis.
DisMech phenotype coverage
Hereditary_Orotic_Aciduria.yaml is the correct target. It models biallelic
UMPS loss of function, deficient orotate phosphoribosyltransferase and/or
OMP decarboxylase activity, impaired de novo UMP synthesis, massive urinary
orotic acid overexcretion, megaloblastic anemia, global developmental delay,
failure to thrive, T-cell immunodeficiency, recurrent respiratory infections,
orotic acid crystalluria, and uridine triacetate therapy.
Concordance and completeness
Judgement: correct mapping with high concordance.
The IEMbase and DisMech profiles agree on UMPS, orotic acid accumulation, megaloblastic anemia, developmental delay, failure to thrive, T-cell immunodeficiency, recurrent infection, and treatment by uridine replacement. IEMbase adds plasma orotic acid and selected hematologic smear terms, plus hematuria/urolithiasis wording that could be reviewed against the local crystalluria-focused renal phenotype.
Curation actions
- Keep the mapping to
Hereditary_Orotic_Aciduria.yaml. - Consider future biomarker refinement for plasma orotic acid and explicit red-cell UMPS/OPRT activity.
- Review whether IEMbase hematuria/urolithiasis should be represented locally as downstream consequences of orotic acid crystalluria or left as unconfirmed IEMbase-only clinical rows.