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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:0200026 | Ocular pain |
| HP:0000505 | Visual impairment |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000479 | Abnormal retinal morphology |
| HP:0003621 | Juvenile onset |
| HP:0011462 | Young adult onset |
| HP:0000026 | Male hypogonadism |
| HP:0000103 | Polyuria |
| HP:0000488 | Retinopathy |
| HP:0000495 | Recurrent corneal erosions |
