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neuronal ceroid lipofuscinosis 4
Summary
- Synonym
-
- CLN4B disease
- autosomal dominant neuronal ceroid lipofuscinosis 4B
- neuronal ceroid lipofuscinosis 4 Parry type
- neuronal ceroid lipofuscinosis 4B
- Definition
- A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inhetitance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the DNAJC5 gene (611203) on chromosome 20q13.
- Super Class
- autosomal dominant disease neuronal ceroid lipofuscinosis
External Links
- Disease Ontology
- DOID:0110720
- 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:0000529 | Progressive visual loss |
| HP:0003204 | Intracellular accumulation of autofluorescent lipopigment storage material |
| HP:0001257 | Spasticity |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum |
| HP:0000708 | Atypical behavior |
| HP:0001627 | Abnormal heart morphology |
| HP:0100543 | Cognitive impairment |
| HP:0001336 | Myoclonus |
| HP:0003657 | Vascular granular osmiophilic material deposition |
| HP:0001250 | Seizure |
