IEMbase 0673: CPT1C-related autosomal dominant spastic paraplegia type 73
Scope
| Field | Value |
|---|---|
| IEMbase ID | 673 |
| Nosology | 4.1.07.01 |
| Nosology code | IEM1165 |
| Gene | CPT1C |
| External IDs | OMIM:616282; ORPHA:444099 |
| Generated mapping | CANDIDATE to Carnitine_Palmitoyltransferase_II_Deficiency.yaml |
| Candidate DisMech targets | No exact CPT1C/SPG73 target identified |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal dominant CPT1C-related carnitine palmitoyl-transferase 1C deficiency, also labeled spastic paraplegia type 73.
The clinical signal is adult-onset pyramidal motor disease with spastic paraparesis/paraplegia/tetraplegia, hyperreflexia, inability to walk, muscle weakness, muscle atrophy, possible loss of ambulation, and abnormal evoked potentials. The cached rows also include neonatal seizures and a later possible seizure row, which should be source-reviewed because they sit apart from the adult spastic-paraplegia package.
DisMech phenotype coverage
No exact CPT1C or SPG73 local target was identified. Searches of hereditary spastic paraplegia files and groupings did not find CPT1C, SPG73, spastic paraplegia type 73, OMIM:616282, or ORPHA:444099.
The generated Carnitine_Palmitoyltransferase_II_Deficiency.yaml candidate is
a carnitine-palmitoyltransferase false positive. CPT II deficiency is a CPT2
long-chain fatty-acid oxidation disorder, not an autosomal dominant CPT1C
spastic paraplegia. Carnitine_Palmitoyltransferase_1A_Deficiency.yaml only
mentions CPT1C as a brain CPT1 isoform and in population-genetics context, not
as disease-level SPG73 coverage.
Concordance and completeness
Judgement: true local gap.
The relevant IEMbase disease concept is neurologic hereditary spastic paraplegia, not hepatic CPT1A deficiency or myopathic CPT2 deficiency. Existing carnitine palmitoyltransferase files are useful only for name disambiguation.
Curation actions
- Add a dedicated CPT1C/SPG73 target if this record is selected for curation.
- Reject CPT2 deficiency as exact coverage.
- Preserve adult spastic paraplegia, hyperreflexia, weakness, atrophy, loss of ambulation, inability to walk, and abnormal evoked potentials.
- Source-review the neonatal seizure rows before importing them into a CPT1C disease model.