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neuronal ceroid lipofuscinosis 8 (CLN8) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neuronal ceroid lipofuscinosis 8

MONDO:0010830

Also known as:CLN8CLN8 neuronal ceroid lipofuscinosisceroid lipofuscinosis, neuronal, type 8

Overview

Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN8 gene.

GeneticsAutosomal recessive · CLN8 (chr 8)

OnsetJUVENILE

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Loss of previously acquired skills (developmental regression), Seizure, Ataxia, and Progressive visual loss and others. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Brain shrinkage (cerebral atrophy), Delayed speech and language development, Loss of previously acquired skills (developmental regression)

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CLN8 encodes CLN8 transmembrane ER and ERGIC protein (286 aa). Could play a role in cell proliferation during neuronal differentiation and in protection against cell death

Neuronal ceroid lipofuscinosis 8 is associated with mutations in the CLN8 gene on chromosome 8.

CLN8 is classified as a druggable target with score 7.5.

Diagnosis

Genetic testing for CLN8 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for neuronal ceroid lipofuscinosis 8 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 7 always present features.

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

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for neuronal ceroid lipofuscinosis 8.

35 publications have been identified in PubMed for neuronal ceroid lipofuscinosis 8. Research spans Case Report / Case Series (31%), Basic Science / Preclinical (23%), and Gene Therapy / Novel Therapeutics (17%).

Research Type	Count	% of Total
Patient case studies	11	31%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600143

Orphanet

European rare disease database

Orphanet:228354

GARD

Genetic and Rare Diseases Info Center

GARD:17152

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

neuronal ceroid lipofuscinosis 8

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

neuronal ceroid lipofuscinosis 8

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications