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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:0002463 | Language impairment |
| HP:0002540 | Inability to walk |
| HP:0003204 | Intracellular accumulation of autofluorescent lipopigment storage material |
| HP:0003205 | Curvilinear intracellular accumulation of autofluorescent lipopigment storage material |
| HP:0003208 | Fingerprint intracellular accumulation of autofluorescent lipopigment storage material |
| HP:0003657 | Vascular granular osmiophilic material deposition |
| HP:0003698 | Difficulty standing |
| HP:0004302 | Functional motor deficit |
| HP:0007359 | Focal-onset seizure |
| HP:0007371 | Corpus callosum atrophy |
