IEMbase 0209: PANK2-related pantothenate kinase 2 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 209 |
| Nosology | 21.5.01.01 |
| Gene | PANK2 |
| External IDs | OMIM:234200; ORPHA:216873 |
| Generated mapping | MAPPED; Pantothenate_Kinase-Associated_Neurodegeneration.yaml |
| Candidate DisMech targets | Pantothenate_Kinase-Associated_Neurodegeneration.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as PANK2-related pantothenate kinase 2 deficiency, with alternate labels neurodegeneration with brain iron accumulation 1, Hallervorden-Spatz disease, and NBIA1. Treatability is marked unknown.
The biochemical row lists increased brain iron. Characteristic clinical rows include dystonia, extrapyramidal signs, eye-of-the-tiger sign, retinopathy, rigidity, and spasticity. Additional rows include depression, abnormal eye movements, intellectual disability, optic atrophy, parkinsonism, psychiatric disturbance, seizures, and spiculated red cells. No treatment rows are listed in the cached record.
DisMech phenotype coverage
Pantothenate_Kinase-Associated_Neurodegeneration.yaml is the correct target.
The local entry covers PANK2 biallelic disease, CoA biosynthesis impairment,
mitochondrial phosphopantetheinyl-protein loss, impaired lipoylation/PDH
dysfunction, basal ganglia iron accumulation, eye-of-the-tiger MRI sign,
dystonia, dysarthria, spasticity, rigidity/bradykinesia, retinal degeneration,
cognitive/neuropsychiatric features, molecular testing, deferiprone iron
chelation, deep brain stimulation, symptomatic pharmacotherapy, pantothenate
replacement strategy, and supplement approaches.
Concordance and completeness
Judgement: correct mapped target with high concordance.
IEMbase and DisMech agree on PANK2/PKAN identity, NBIA1/Hallervorden-Spatz synonymy, brain/basal-ganglia iron, eye-of-the-tiger sign, dystonia, extrapyramidal/parkinsonian features, rigidity, spasticity, retinal/optic involvement, psychiatric/developmental manifestations, and seizures. IEMbase adds spiculated red cells and abnormal eye movements as review targets, and it frames brain iron as a biochemical row. DisMech is richer for mechanism and treatment.
Curation actions
- Keep this record mapped to
Pantothenate_Kinase-Associated_Neurodegeneration.yaml. - Consider adding a structured brain-iron biochemical/readout row, spiculated red cells, and abnormal eye movements if the PKAN entry is enriched.
- No mapping correction is needed.