IEMbase 0308: CLN6-related Kufs disease
Scope
| Field | Value |
|---|---|
| IEMbase ID | 308 |
| Nosology | 20.4.05.01 |
| Gene | CLN6 |
| External IDs | OMIM:204300; ORPHA:228340 |
| Generated mapping | MAPPED; Adult_Neuronal_Ceroid_Lipofuscinosis.yaml |
| Candidate DisMech targets | Adult_Neuronal_Ceroid_Lipofuscinosis.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents CLN6-related Kufs disease as adult neuronal ceroid lipofuscinosis with behavioral disorder, cerebral atrophy, cognitive impairment, extrapyramidal movement disorder, movement disorder, myoclonic epilepsy, and seizures. Additional clinical rows include ataxia, cerebellar atrophy, abnormal EEG, electron-microscopy storage material, myoclonus, neurodegenerative disease, tonic-clonic seizures, and spasticity.
No biochemical or treatment rows are present in the cached record.
DisMech phenotype coverage
Adult_Neuronal_Ceroid_Lipofuscinosis.yaml is the correct local target. It
models Kufs disease as adult NCL with Type A and Type B clinical forms, and it
explicitly includes CLN6 as the main recessive Type A/Kufs-A gene. Mechanistic
coverage includes CLN6 EGRESS-complex lysosomal enzyme trafficking defect,
lipopigment accumulation, and progressive neurodegeneration.
Phenotype coverage includes dementia, myoclonus, seizure, cerebellar ataxia, cerebral atrophy, and EEG photosensitivity. Biochemical/pathologic coverage includes autofluorescent ceroid lipopigment storage, proteolysis-resistant ceroid deposits, cathepsin F activity for the CTSF branch, and lysosomal enzyme levels at the lysosome. Treatment coverage is supportive care and antiseizure pharmacotherapy.
Concordance and completeness
Judgement: correct file-level mapping to
Adult_Neuronal_Ceroid_Lipofuscinosis.yaml, with CLN6-specific coverage already
present locally.
Concordance is high for Kufs/adult NCL scope, CLN6 identity, adult progressive myoclonus epilepsy, dementia/cognitive impairment, ataxia, seizures, myoclonus, cerebral/cerebellar atrophy, EEG abnormality, storage material, and supportive/antiseizure management. DisMech is richer for CLN6 trafficking mechanism and adult NCL subtype structure.
IEMbase adds explicit extrapyramidal movement disorder, generalized movement disorder, behavioral disorder, spasticity, and a generic neurodegenerative disease row. These are compatible with the local description but not all are modeled as discrete phenotypes.
Curation actions
- Keep the generated adult NCL mapping.
- Consider adding a CLN6/Kufs-specific phenotype note for extrapyramidal signs and spasticity if source-backed.
- Keep CLN6 Kufs disease distinct from CLN6 late-infantile disease; they should not collapse to one phenotype record.
- Use the local adult NCL file, not the broad childhood NCL umbrella, as the canonical target for this IEMbase record.