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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
neuronal ceroid lipofuscinosis 8
Summary
- Synonym
-
- CLN8
- Definition
- A neuronal ceroid lipofuscinosis that is characterized by a late infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in homozygous or compound heterozygous mutation in the CLN8 gene on chromosome 8p23.
- Super Class
- autosomal recessive disease neuronal ceroid lipofuscinosis
External Links
- Disease Ontology
- DOID:0110723
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 47 | ACLY | ATP citrate lyase | |
| 1203 | CLN5 | CLN5 intracellular trafficking protein | |
| 2571 | GAD1 | glutamate decarboxylase 1 | |
| 2572 | GAD2 | glutamate decarboxylase 2 | |
| 3956 | LGALS1 | galectin 1 | |
| 5310 | PKD1 | polycystin 1, transient receptor potential channel interacting | |
| 5538 | PPT1 | palmitoyl-protein thioesterase 1 | |
| 5660 | PSAP | prosaposin | |
| 7957 | EPM2A | EPM2A glucan phosphatase, laforin | |
| 9374 | PPT2 | palmitoyl-protein thioesterase 2 |
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:0011209 | EEG with generalized slow activity grade 4 |
| HP:0012379 | Abnormal circulating enzyme concentration or activity |
| HP:0000543 | Optic disc pallor |
| HP:0000580 | Pigmentary retinopathy |
| HP:0000712 | Emotional lability |
| HP:0000716 | Depression |
| HP:0000975 | Hyperhidrosis |
| HP:0001129 | Large central visual field defect |
| HP:0001300 | Parkinsonism |
| HP:0001348 | Brisk reflexes |
