Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
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
External Links
- Disease Ontology
- DOID:0110731
- Mondo Disease Ontology
- ORDO
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O35454 | H(+)/Cl(-) exchange transporter 6 | |
| O88531 | Palmitoyl-protein thioesterase 1 | |
| Q61124 | Battenin | |
| Q6PGA5 | Chloride channel protein |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000975 | Hyperhidrosis |
| HP:0001129 | Large central visual field defect |
| HP:0001250 | Seizure |
| HP:0001272 | Cerebellar atrophy |
| HP:0001300 | Parkinsonism |
| HP:0001348 | Brisk reflexes |
| HP:0001627 | Abnormal heart morphology |
| HP:0001649 | Tachycardia |
| HP:0002015 | Dysphagia |
| HP:0002059 | Cerebral atrophy |
