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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:0001263 | Global developmental delay |
| HP:0001531 | Failure to thrive in infancy |
| HP:0001738 | Exocrine pancreatic insufficiency |
| HP:0001744 | Splenomegaly |
| HP:0001824 | Weight loss |
| HP:0002007 | Frontal bossing |
| HP:0002015 | Dysphagia |
| HP:0002059 | Cerebral atrophy |
| HP:0002240 | Hepatomegaly |
| HP:0002344 | Progressive neurologic deterioration |
