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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
neuronal ceroid lipofuscinosis 6B
Summary
- Synonym
-
- CLN4A
- autosomal recessive neuronal ceroid lipofuscinosis 4A
- neuronal ceroid lipofuscinosis 4A
- Definition
- A neuronal ceroid lipofuscinosis that is characterized by adult-onset of progressive myoclonus epilepsy, ataxia, loss of motor function, dysarthria, progressive dementia, and progressive cerebral and cerebellar atrophy on brain imaging and has_material_basis_in homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23.
- Super Class
- autosomal recessive disease neuronal ceroid lipofuscinosis
External Links
- Disease Ontology
- DOID:0110730
- Mondo Disease Ontology
- ORDO
- OMIM
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:0001268 | Mental deterioration |
| HP:0003208 | Fingerprint intracellular accumulation of autofluorescent lipopigment storage material |
| HP:0000726 | Dementia |
| HP:0010536 | Central sleep apnea |
| HP:0002071 | Abnormality of extrapyramidal motor function |
| HP:0000572 | Visual loss |
| HP:0002333 | Motor deterioration |
| HP:0001251 | Ataxia |
| HP:0007256 | Abnormal pyramidal sign |
| HP:0001337 | Tremor |
