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cystinosis
Summary
- Synonym
-
- cystine storage disease
- Definition
- A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17.
- Super Class
- autosomal recessive disease lysosomal storage disease
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60931 | Cystinosin |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P57757 | Cystinosin |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q09500 | Cystinosin homolog |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P17261 | Cystine transporter |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003109 | Hyperphosphaturia |
| HP:0003111 | Abnormal blood ion concentration |
| HP:0003126 | Low-molecular-weight proteinuria |
| HP:0003355 | Aminoaciduria |
| HP:0004918 | Hyperchloremic metabolic acidosis |
| HP:0100511 | Abnormality of vitamin D metabolism |
| HP:0100543 | Cognitive impairment |
| HP:0000083 | Renal insufficiency |
| HP:0000093 | Proteinuria |
| HP:0000114 | Proximal tubulopathy |
