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IEMbase 0310: CLN5-related lysosomal protein deficiency

Scope

Field Value
IEMbase ID 310
Nosology 20.4.04.01
Gene CLN5
External IDs OMIM:256731; ORPHA:228360
Generated mapping UNMAPPED
Candidate DisMech targets Neuronal_Ceroid_Lipofuscinosis.yaml as umbrella context only
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents CLN5-related NCL as a late-infantile/childhood neuronal ceroid lipofuscinosis with cerebellar atrophy, cerebral atrophy, electron-microscopy storage material, movement disorder, muscular atrophy, optic atrophy, retinal dystrophy, seizures, myoclonic seizures, abnormal or delayed speech, and vision loss or optic atrophy. Additional clinical rows include ataxia, cerebellar white matter abnormalities, developmental regression, dystonia, abnormal EEG, abnormal ERG, macular degeneration, myoclonic epilepsy, myoclonus, neurodegenerative disease, tonic-clonic seizures, abnormal somatosensory evoked potentials, spasticity, spinal muscular atrophy, and abnormal VEP.

No biochemical or treatment rows are present in the cached record.

DisMech phenotype coverage

There is no standalone Neuronal_Ceroid_Lipofuscinosis_5.yaml or CLN5 subtype entry in the current local KB. The broad Neuronal_Ceroid_Lipofuscinosis.yaml file does include CLN5 in its genetic section, and it covers shared NCL biology and phenotypes: toxic endo-lysosomal storage, endomembrane protein dysfunction, autofluorescent lipopigment accumulation, visual impairment, retinal degeneration, cognitive impairment, seizures, developmental regression, motor deterioration, myoclonus, and supportive care.

That umbrella coverage is useful context but does not represent CLN5/NCL5 as a curated disease target.

Concordance and completeness

Judgement: generated UNMAPPED status is appropriate for a canonical mapping; local coverage is only partial through the broad NCL umbrella.

The umbrella file agrees with IEMbase on CLN5 being an NCL gene and on the shared NCL phenotype scaffold: visual/retinal disease, seizures, regression, myoclonus, motor deterioration, and lysosomal storage biology. It does not capture CLN5-specific disease identity, late-infantile CLN5 natural history, optic atrophy, speech abnormality, MRI/electrophysiology findings, dystonia, spasticity, or storage-material ultrastructure as CLN5-specific rows.

Curation actions

  • Treat IEMbase 310 as a true missing standalone target, not as a successful umbrella mapping.
  • Consider creating a CLN5/NCL5 disease entry or subtype with CLN5-specific phenotype, progression, genetic, and diagnostic-pathology coverage.
  • Use Neuronal_Ceroid_Lipofuscinosis.yaml only as temporary umbrella context.
  • Review MRI, EEG/ERG/VEP/SSEP, optic atrophy, speech abnormality, dystonia, spasticity, and spinal muscular atrophy rows before any phenotype import.