IEMbase 0311: CLN6-related lysosomal protein deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 311 |
| Nosology | 20.4.05.02 |
| Gene | CLN6 |
| External IDs | OMIM:601780; ORPHA:228340 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | Neuronal_Ceroid_Lipofuscinosis.yaml as umbrella context only; Adult_Neuronal_Ceroid_Lipofuscinosis.yaml is not the correct phenotype scope |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents the CLN6 late-infantile lysosomal protein deficiency branch, not the adult Kufs disease branch. Characteristic rows include cerebellar atrophy, cerebral atrophy, movement disorder, muscular atrophy, optic atrophy, pigmentary retinopathy, retinal dystrophy, seizures, myoclonic seizures, abnormal or delayed speech, spinal muscular atrophy, and vision loss or optic atrophy. Additional clinical rows include ataxia, cerebellar white matter abnormalities, developmental regression, dystonia, abnormal EEG, abnormal ERG, myoclonic epilepsy, myoclonus, neurodegenerative disease, tonic-clonic seizures, abnormal somatosensory evoked potentials, spasticity, and abnormal VEP.
No biochemical or treatment rows are present in the cached record.
DisMech phenotype coverage
The current local KB has strong CLN6 coverage in
Adult_Neuronal_Ceroid_Lipofuscinosis.yaml, but that file models CLN6-related
Kufs/adult NCL, not CLN6 late-infantile disease. The broad
Neuronal_Ceroid_Lipofuscinosis.yaml file includes CLN6 in its genetic section
and covers shared NCL biology and phenotypes such as visual impairment, retinal
degeneration, cognitive impairment, seizures, developmental regression, motor
deterioration, myoclonus, and lysosomal storage.
There is no dedicated local NCL6/CLN6 late-infantile disease target.
Concordance and completeness
Judgement: generated UNMAPPED status is appropriate for the late-infantile
CLN6 record. Adult_Neuronal_Ceroid_Lipofuscinosis.yaml should not be reused
for this IEMbase ID despite the shared CLN6 gene.
The broad NCL umbrella gives partial context for CLN6 as an NCL gene and for the shared phenotype scaffold. It does not capture the late-infantile CLN6 entity, its age/scope distinction from adult Kufs disease, or the granular IEMbase rows for optic atrophy, pigmentary retinopathy, speech abnormality, MRI white-matter/cerebellar/cerebral atrophy, EEG/ERG/VEP/SSEP abnormalities, dystonia, spasticity, and muscular atrophy.
Curation actions
- Treat IEMbase 311 as a missing CLN6 late-infantile NCL target.
- Do not map this record to adult CLN6 Kufs disease.
- Consider a standalone NCL6/CLN6 late-infantile entry or subtype, keeping it
distinct from
Adult_Neuronal_Ceroid_Lipofuscinosis.yaml. - Use the broad NCL umbrella only for temporary shared phenotype context.