Features include always present findings: Mental deterioration, Progressive loss of mental abilities (dementia), and Diffuse cerebral atrophy; and common findings: Bilateral tonic-clonic seizure, Cerebral cortical atrophy, Ataxia, and Dysarthria and others. 22 total HPO annotations.

CTSF encodes cathepsin F (484 aa). Thiol protease which is believed to participate in intracellular degradation and turnover of proteins. Has also been implicated in tumor invasion and metastasis Highest expression in Brain Cerebellum (277.2 TPM) and Testis (268.4 TPM).

Neuronal ceroid lipofuscinosis 13 is associated with mutations in the CTSF gene on chromosome 11.

CTSF is classified as a druggable target (Druggable Genome, Enzyme, and Protease categories) with score 13.1.

Genetic testing for CTSF is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for neuronal ceroid lipofuscinosis 13 has been reported in the published literature.

Phenotype severity distribution: 3 always present features, 5 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

32 publications have been identified in PubMed for neuronal ceroid lipofuscinosis 13. Research spans Case Report / Case Series (25%), Basic Science / Preclinical (22%), and Epidemiology / Natural History (22%).