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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:0002876 | Episodic tachypnea |
| HP:0003739 | Myoclonic spasms |
| HP:0005324 | Disturbance of facial expression |
| HP:0007010 | Poor fine motor coordination |
| HP:0007064 | Progressive language deterioration |
| HP:0007183 | Focal T2 hyperintense basal ganglia lesion |
| HP:0011951 | Aspiration pneumonia |
| HP:0012379 | Abnormal circulating enzyme concentration or activity |
| HP:0012692 | Focal T2 hyperintense thalamic lesion |
| HP:0100543 | Cognitive impairment |
