IEMbase 0760: PLA2G6-related phospholipase A2 group 6 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 760 |
| Nosology | 14.5.01.12 |
| Nosology code | IEM0669 |
| Gene | PLA2G6 |
| External IDs | OMIM:256600; ORPHA:35069 |
| Generated mapping | MAPPED; Neurodegeneration_With_Brain_Iron_Accumulation.yaml |
| Candidate DisMech targets | Neurodegeneration_With_Brain_Iron_Accumulation.yaml; related context in Adult_Onset_Dystonia_Parkinsonism.yaml |
| Review date | 2026-07-08 |
IEMbase phenotype signal
IEMbase labels this autosomal recessive record as PLA2G6-related phospholipase A2 group 6 deficiency, with alternate names neurodegeneration with brain iron accumulation, atypical neuroaxonal dystrophy, and NBIA2A. The source signal includes brain iron, neurodegeneration with brain iron accumulation, neuroaxonal dystrophy, basal ganglia MRI abnormalities, cerebellar atrophy, dystonia, adult parkinsonism or hypokinetic parkinsonism, ataxia, extrapyramidal movement disorder, spasticity, tetraparesis, truncal hypotonia, psychomotor regression, epilepsy, abnormal EEG and EMG, slow nerve conduction velocity, interictal nystagmus, strabismus, optic atrophy, and possible autism.
DisMech phenotype coverage
Neurodegeneration_With_Brain_Iron_Accumulation.yaml is a correct local target.
It includes a PLAN / PLA2G6-associated neurodegeneration subtype, the causal
PLA2G6 gene, lipid-metabolism pathway context, basal-ganglia iron accumulation,
oxidative neuronal injury, progressive motor and cognitive decline, dystonia,
parkinsonism, spasticity, developmental regression, ataxia, cerebellar atrophy,
and diagnostic brain MRI for iron deposition.
Adult_Onset_Dystonia_Parkinsonism.yaml is relevant subtype-context for the
adult PLA2G6/PARK14 parkinsonism end of the spectrum, but it is narrower than
the IEMbase NBIA2A / atypical neuroaxonal dystrophy record.
Concordance and completeness
Judgement: correct mapping to the broad NBIA/PLAN target, with useful related context in the separate PLA2G6 dystonia-parkinsonism entry.
DisMech covers the major disease identity, gene, NBIA mechanism, iron-imaging signature, movement disorder, regression, ataxia, and cerebellar atrophy signals. IEMbase adds a more detailed clinical checklist for PLA2G6 disease, especially neuroaxonal dystrophy wording, optic atrophy, strabismus, nystagmus, abnormal EEG/EMG, epilepsy, slow nerve conduction velocity, tetraparesis, truncal hypotonia, and autism.
Curation actions
- Keep
Neurodegeneration_With_Brain_Iron_Accumulation.yamlas the primary mapping for this IEMbase record. - Use
Adult_Onset_Dystonia_Parkinsonism.yamlonly as adult PLA2G6-spectrum context, not as the sole mapping. - Consider the IEMbase ocular, electrophysiology, seizure, and peripheral nerve rows when refining PLAN/NBIA phenotype completeness.