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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:0007663 | Reduced visual acuity |
| HP:0008770 | Obsessive-compulsive trait |
| HP:0010819 | Atonic seizure |
| HP:0010841 | Multifocal epileptiform discharges |
| HP:0010845 | EEG with generalized slow activity |
| HP:0010850 | EEG with spike-wave complexes |
| HP:0010852 | EEG with photoparoxysmal response |
| HP:0011147 | Typical absence seizure |
| HP:0011167 | Focal tonic seizure |
| HP:0011194 | EEG with series of focal spikes |
