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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:0000124 | Renal tubular dysfunction |
| HP:0000481 | Abnormal cornea morphology |
| HP:0000531 | Corneal crystals |
| HP:0000580 | Pigmentary retinopathy |
| HP:0000613 | Photophobia |
| HP:0001508 | Failure to thrive |
| HP:0001510 | Growth delay |
| HP:0001941 | Acidosis |
| HP:0001944 | Dehydration |
| HP:0001959 | Polydipsia |
