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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Summary
- Synonym
-
- EPMR
- northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant
- progressive epilepsy with mental retardation, northern epilepsy
- progressive epilepsy-intellectual disability syndrome, Finnish type
- Definition
- A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in a Finnish founder mutation in the CLN8 gene on chromosome 8p23.
- Super Class
- autosomal recessive disease neuronal ceroid lipofuscinosis
External Links
- Disease Ontology
- DOID:0110724
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
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 |
