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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
neuronal ceroid lipofuscinosis 5
Summary
- Synonym
-
- CLN5
- neuronal ceroid lipofuscinosis 5 variable age of onset
- Definition
- A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22.
- Super Class
- autosomal recessive disease neuronal ceroid lipofuscinosis
External Links
- Disease Ontology
- DOID:0110728
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001272 | Cerebellar atrophy |
| HP:0001288 | Gait disturbance |
| HP:0001336 | Myoclonus |
| HP:0002059 | Cerebral atrophy |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0002123 | Generalized myoclonic seizure |
| HP:0002167 | Abnormality of speech or vocalization |
| HP:0002333 | Motor deterioration |
| HP:0002360 | Sleep abnormality |
| HP:0002371 | Loss of speech |
