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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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75503 | Bis(monoacylglycero)phosphate synthase CLN5 | |
| P07602 | Prosaposin | |
| P09382 | Galectin-1 | |
| P50897 | Palmitoyl-protein thioesterase 1 | |
| P53396 | ATP-citrate synthase | |
| P98161 | Polycystin-1 | |
| Q96EG1 | Arylsulfatase G | |
| Q9UMR5 | Lysosomal thioesterase PPT2 |
- 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 |
