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neuronal ceroid lipofuscinosis 10
Summary
- Synonym
-
- CLN10
- Cathepsin D deficiency
- neuronal ceroid lipofuscinosis cathepsin D-deficient
- neuronal ceroid lipofuscinosis due to cathepsin D deficiency
- Definition
- A neuronal ceroid lipofuscinosis that has_material_basis_in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15.
- Super Class
- autosomal recessive disease neuronal ceroid lipofuscinosis
External Links
- Disease Ontology
- DOID:0110725
- Mondo Disease Ontology
- ORDO
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P07339 | Cathepsin D |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P18242 | Cathepsin D |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001272 | Cerebellar atrophy |
| HP:0001288 | Gait disturbance |
| HP:0001336 | Myoclonus |
| HP:0002059 | Cerebral atrophy |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0002123 | Generalized myoclonic seizure |
| HP:0002167 | Abnormality of speech or vocalization |
| HP:0002333 | Motor deterioration |
| HP:0002360 | Sleep abnormality |
| HP:0002371 | Loss of speech |
