IEMbase 0111: UROS-related uroporphyrinogen III synthase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 111 |
| Nosology | 17.1.05.01 |
| Gene | UROS |
| External IDs | OMIM:263700; ORPHA:79277 |
| Generated mapping | MAPPED, high confidence |
| Candidate DisMech targets | Inherited_Porphyria.yaml#Congenital Erythropoietic Porphyria |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as UROS-related uroporphyrinogen III synthase deficiency, with alternate labels congenital erythropoietic porphyria, uroporphyrinogen cosynthase deficiency, and CEP. Treatability is marked yes.
The characteristic biochemical rows are increased type I porphyrin isomers in plasma and urine and increased total porphyrins in plasma and urine across all ages. The clinical rows are red-brown urine with pink fluorescence and intrinsic dental staining. The treatment row is avoidance of sunlight.
DisMech phenotype coverage
Inherited_Porphyria.yaml has a congenital erythropoietic porphyria subtype
anchored to UROS. The local entry models UROS loss in erythroid heme synthesis,
uroporphyrin I and coproporphyrin I accumulation, visible-light phototoxicity,
chronic hemolytic anemia, thrombocytopenia, corneal scarring, and cutaneous
photosensitivity.
DisMech also includes management context that is broader than IEMbase: photoprotection and bone marrow or hematopoietic stem cell transplantation for severe CEP.
Concordance and completeness
Judgement: correct subtype-level mapping with complementary detail.
The mapping is concordant for UROS/CEP and for the photosensitive porphyrin accumulation phenotype. DisMech is more complete for mechanism, hematologic complications, corneal involvement, and transplant-level treatment. IEMbase is more granular for the specific laboratory pattern of type I porphyrin isomers in plasma and urine and for dental staining/red-brown fluorescent urine, which are not represented as discrete local phenotype rows.
Curation actions
- Keep the current target as
Inherited_Porphyria.yaml#Congenital Erythropoietic Porphyria. - Consider adding CEP-specific biochemical rows for plasma/urinary type I porphyrin isomers.
- Consider explicit phenotype review for erythrodontia/dental staining and red-brown fluorescent urine.