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MIRAGE
neuronal ceroid lipofuscinosis 2
Summary
- Synonym
-
- CLN2
- neuronal ceroid lipofuscinosis 2 variable age at onset
- Definition
- A neuronal ceroid lipofuscinosis that is characterized by 'curvilinear' profile lipopigment pattern and has_material_basis_in homozygous or compound heterozygous mutation in the TPP1 gene on chromosome 11p15.
- Super Class
- autosomal recessive disease neuronal ceroid lipofuscinosis
External Links
- Disease Ontology
- DOID:0110726
- Mondo Disease Ontology
- ORDO
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O14773 | Tripeptidyl-peptidase 1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| O89023 | Tripeptidyl-peptidase 1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| F8W2M8 | Tripeptidyl-peptidase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| 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:0012692 | Focal T2 hyperintense thalamic lesion |
| HP:0100543 | Cognitive impairment |
