neuronal ceroid lipofuscinosis
Findings
No curated finding names neuronal ceroid lipofuscinosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.
Definition from the Mondo Disease Ontology (MONDO:0016295), read 2026-09-29. CC BY 4.0.
Genes
9 genes
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.
- CLN3HGNC:2074
- Definitive · ClinGen · Autosomal recessive · 2023
- CLN5HGNC:2076
- Definitive · ClinGen · Autosomal recessive · 2021
- CLN6HGNC:2077
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · Natera · Autosomal recessive · 2022
- CLN8HGNC:2079
- Definitive · ClinGen · Autosomal recessive · 2020
- CTSDHGNC:2529
- Definitive · ClinGen · Autosomal recessive · 2020
- GRNHGNC:4601
- Definitive · ClinGen · Autosomal recessive · 2023
Where it sits
- Narrower terms (14)
- adult neuronal ceroid lipofuscinosis
- ceroid lipofuscinosis, neuronal, 6A
- ceroid lipofuscinosis, neuronal, 6B (Kufs type)
- congenital neuronal ceroid lipofuscinosis
- infantile neuronal ceroid lipofuscinosis
- juvenile neuronal ceroid lipofuscinosis
- neuronal ceroid lipofuscinosis 1
- neuronal ceroid lipofuscinosis 10
- neuronal ceroid lipofuscinosis 2
- neuronal ceroid lipofuscinosis 3
- neuronal ceroid lipofuscinosis 5
- neuronal ceroid lipofuscinosis 7
- neuronal ceroid lipofuscinosis 8
- progressive myoclonic epilepsy type 3
Other names
2 names
Resolves to: neuronal ceroid lipofuscinosis
- Also called
- ceroid lipofuscinosesNCL