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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:0003537 | Hypouricemia |
| HP:0003774 | Stage 5 chronic kidney disease |
| HP:0004396 | Poor appetite |
| HP:0010639 | Elevated alkaline phosphatase of bone origin |
| HP:0011106 | Hypovolemia |
| HP:0011314 | Abnormal long bone morphology |
| HP:0011968 | Feeding difficulties |
| HP:0012598 | Abnormal urine potassium concentration |
| HP:0012622 | Chronic kidney disease |
| HP:0100512 | Decreased circulating vitamin D concentration |
