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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
| 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:0002876 | Episodic tachypnea |
| HP:0003739 | Myoclonic spasms |
| HP:0005324 | Disturbance of facial expression |
| HP:0007010 | Poor fine motor coordination |
| HP:0007064 | Progressive language deterioration |
| HP:0007183 | Focal T2 hyperintense basal ganglia lesion |
| HP:0011951 | Aspiration pneumonia |
| HP:0012379 | Abnormal circulating enzyme concentration or activity |
| HP:0012692 | Focal T2 hyperintense thalamic lesion |
| HP:0100543 | Cognitive impairment |
