IEMbase 0559: CTSF-related CLN13 / Kufs disease
Scope
| Field | Value |
|---|---|
| IEMbase ID | 559 |
| Nosology | 20.4.11.01 |
| Gene | CTSF |
| External IDs | OMIM:603539; ORPHA:352709 |
| Generated mapping | UNMAPPED; best candidate Adult_Neuronal_Ceroid_Lipofuscinosis.yaml |
| Candidate DisMech targets | Adult_Neuronal_Ceroid_Lipofuscinosis.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents CTSF-related cathepsin F deficiency, with alternate labels Kufs disease recessive type, neuronal ceroid lipofuscinosis 13, and CLN13. The record is autosomal recessive, adult form, of unknown treatability, and has no treatment rows.
Clinical rows include ataxia, dysarthria, electron-microscopy storage material, movement disorder, muscular atrophy, seizures, tonic-clonic seizures, and spinal muscular atrophy. Characteristic rows include behavioral disorder, cerebellar atrophy, cerebral atrophy, cognitive decline, extrapyramidal movement disorder, and neurodegenerative disease.
DisMech phenotype coverage
Adult_Neuronal_Ceroid_Lipofuscinosis.yaml is the correct local target. The
entry explicitly models adult NCL / Kufs disease, including Type B Kufs disease
caused by recessive CTSF pathogenic variants, also designated CLN13. Its CTSF
branch models cathepsin F lysosomal protease dysfunction, lysosomal
proteolysis decrease, ceroid lipopigment storage, and progressive
neurodegeneration.
The local disease description covers adult-onset dementia with motor system dysfunction, cerebellar ataxia or extrapyramidal signs, ultrastructural storage inclusions, and supportive management.
Concordance and completeness
Judgement: generated false negative; resolve to
Adult_Neuronal_Ceroid_Lipofuscinosis.yaml#CTSF.
IEMbase and DisMech agree on CTSF identity, recessive adult Kufs/CLN13 scope, cathepsin F lysosomal protease dysfunction, storage material, cognitive decline, ataxia or extrapyramidal movement disorder, cerebral/cerebellar atrophy, and progressive neurodegeneration. DisMech is stronger for the subtype framing and mechanism.
IEMbase adds useful review prompts for dysarthria, muscular atrophy, spinal muscular atrophy, seizures, and tonic-clonic seizures. The seizure rows should be source-checked because CTSF Type B Kufs disease is often framed locally as a dementia/motor subtype without prominent myoclonic epilepsy.
Curation actions
- Promote the IEMbase match to
Adult_Neuronal_Ceroid_Lipofuscinosis.yaml, specifically the CTSF/CLN13 Type B Kufs branch. - Add or verify CLN13 and "cathepsin F deficiency" aliases if not already surfaced.
- Review IEMbase seizure, dysarthria, muscular-atrophy, and spinal-muscular atrophy prompts before phenotype import.