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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
neuronal ceroid lipofuscinosis 1
Summary
- Synonym
-
- CLN1
- neuronal ceroid lipofuscinosis 1 variable age of onset
- Definition
- A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34.
- Super Class
- autosomal recessive disease neuronal ceroid lipofuscinosis
External Links
- Disease Ontology
- DOID:0110721
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 47 | ACLY | ATP citrate lyase | |
| 142 | PARP1 | poly(ADP-ribose) polymerase 1 | |
| 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 | |
| 6342 | SCP2 | sterol carrier protein 2 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75503 | Bis(monoacylglycero)phosphate synthase CLN5 | |
| P07602 | Prosaposin | |
| P09382 | Galectin-1 | |
| P09874 | Poly [ADP-ribose] polymerase 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:0007663 | Reduced visual acuity |
| HP:0008770 | Obsessive-compulsive trait |
| HP:0010819 | Atonic seizure |
| HP:0010841 | Multifocal epileptiform discharges |
| HP:0010845 | EEG with generalized slow activity |
| HP:0010850 | EEG with spike-wave complexes |
| HP:0010852 | EEG with photoparoxysmal response |
| HP:0011147 | Typical absence seizure |
| HP:0011167 | Focal tonic seizure |
| HP:0011194 | EEG with series of focal spikes |
