ceroid lipofuscinosis, neuronal, 4 (Kufs type)
Findings
No curated finding names ceroid lipofuscinosis, neuronal, 4 (Kufs type) yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A condition associated with mutation(s) in the DNAJC5 gene, encoding dnaJ homolog subfamily C member 5. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.
Definition from the Mondo Disease Ontology (MONDO:0008083), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
5 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 1 reported patient · Young adult onset
- DementiaHPOHP:0000726
- 1 of 1 reported patient
- DepressionHPOHP:0000716
- 1 of 1 reported patient
- Myoclonic seizureHPOHP:0032794
- 1 of 1 reported patient · Young adult onset
- Vascular granular osmiophilic material depositionHPOHP:0003657
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DNAJC5HGNC:16235
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: ceroid lipofuscinosis, neuronal, 4 (Kufs type)
- Also called
- autosomal dominant Kufs diseaseceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominantCLN4neuronal ceroid lipofuscinosis type 4Bneuronal ceroid lipofuscinosis, parry type