IEMbase 0313: CLN8-related lysosomal protein deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 313 |
| Nosology | 20.4.07.01 |
| Gene | CLN8 |
| External IDs | OMIM:600143; ORPHA:228354 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | Broad context only: Neuronal_Ceroid_Lipofuscinosis.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as autosomal recessive CLN8-related late-infantile neuronal ceroid lipofuscinosis. Characteristic rows include cerebellar atrophy, cerebral atrophy, movement disorder, muscular atrophy, optic atrophy, pigmentary retinopathy, retinal dystrophy, seizures, spinal muscular atrophy, and vision loss or optic atrophy.
Additional clinical rows include ataxia, behavioral disorder, cerebellar white matter abnormality, developmental regression, dystonia, abnormal EEG, abnormal ERG, myoclonic epilepsy, myoclonus, neurodegenerative disease, complex-partial and tonic-clonic seizures, abnormal somatosensory evoked potentials, spasticity, abnormal or delayed speech, and abnormal VEP. No biochemical or treatment rows are present in the cached record.
DisMech phenotype coverage
Neuronal_Ceroid_Lipofuscinosis.yaml includes CLN8 as a definitive genetic
relationship for broad neuronal ceroid lipofuscinosis and covers shared NCL
features including visual impairment, retinal degeneration, cognitive
impairment, seizures, developmental regression, motor deterioration,
myoclonus, and autofluorescent ceroid lipopigment storage.
The local broad NCL file is useful context, but it does not provide a standalone CLN8/NCL8 disease or subtype with late-infantile phenotype resolution. Existing NCL leaf entries cover other genes, and adult CLN/Kufs content should not be used as the canonical target for this late-infantile CLN8 record.
Concordance and completeness
Judgement: true missing standalone NCL8/CLN8 target.
Concordance is partial at the broad NCL level for seizures, developmental regression, visual impairment, retinal degeneration, myoclonus, and motor deterioration. The generated UNMAPPED status is appropriate if the crosswalk requires disease-level or subtype-level coverage rather than a broad umbrella gene mention.
IEMbase adds review prompts for CLN8-specific late-infantile framing, cerebellar and cerebral atrophy, cerebellar white matter abnormality, optic atrophy, pigmentary retinopathy, EEG/ERG/VEP/SSEP abnormalities, dystonia, spasticity, speech delay, muscular atrophy, and spinal muscular atrophy.
Curation actions
- Add a standalone CLN8/NCL8 target or explicit NCL umbrella subtype before treating this record as mapped.
- Use broad
Neuronal_Ceroid_Lipofuscinosis.yamlonly as shared phenotype and gene-context support. - Review muscular atrophy and spinal muscular atrophy rows before import.