IEMbase 0764: CYP2U1-related spastic paraplegia 56
Scope
| Field | Value |
|---|---|
| IEMbase ID | 764 |
| Nosology | 14.5.01.14 |
| Nosology code | IEM0673 |
| Gene | CYP2U1 |
| External IDs | OMIM:615030; ORPHA:320411 |
| Generated mapping | CANDIDATE; Autosomal_Recessive_Cerebellar_Ataxia_With_Late_Onset_Spasticity.yaml |
| Candidate DisMech targets | None exact |
| Review date | 2026-07-08 |
IEMbase phenotype signal
IEMbase labels this autosomal recessive record as CYP2U1-related spastic paraplegia 56. The source signal includes characteristic spastic paraparesis, psychomotor retardation or regression, intellectual disability, dystonia, peripheral neuropathy, pigmentary maculopathy, thin corpus callosum, cerebellar white matter abnormalities, basal ganglia calcifications, and low-to-normal CSF 5-methyltetrahydrofolic acid in infancy and childhood.
DisMech phenotype coverage
No exact CYP2U1 / SPG56 entry is present locally. The generated
Autosomal_Recessive_Cerebellar_Ataxia_With_Late_Onset_Spasticity.yaml
candidate is a false positive for disease identity. That local entry is a
GBA2-related SPG46 / cerebellar ataxia with late-onset spasticity disorder
based on nonlysosomal glucosylceramidase deficiency, not CYP2U1-related SPG56.
Concordance and completeness
Judgement: true local gap.
The GBA2 candidate shares spasticity, ataxia, neuropathy, and corpus-callosum vocabulary, but it has the wrong causal gene and lipid mechanism. The IEMbase CYP2U1 record should remain unmapped until a SPG56-specific entry exists.
Curation actions
- Add a distinct CYP2U1 / spastic paraplegia 56 target before treating this record as covered.
- Reject
Autosomal_Recessive_Cerebellar_Ataxia_With_Late_Onset_Spasticity.yamlas exact coverage. - Preserve the CSF 5-MTHF, basal-ganglia calcification, pigmentary maculopathy, thin corpus callosum, dystonia, neuropathy, and psychomotor regression prompts.