Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
neuronal ceroid lipofuscinosis 3
Summary
- Synonym
-
- Batten disease
- CLN3
- juvenile neuronal ceroid lipofuscinosis
- Definition
- A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11.
- Super Class
- autosomal recessive disease neuronal ceroid lipofuscinosis
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000543 | Optic disc pallor |
| HP:0000546 | Retinal degeneration |
| HP:0000572 | Visual loss |
| HP:0000580 | Pigmentary retinopathy |
| HP:0000618 | Blindness |
| HP:0000712 | Emotional lability |
| HP:0000716 | Depression |
| HP:0000726 | Dementia |
| HP:0000733 | Motor stereotypy |
| HP:0000739 | Anxiety |
