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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
External Links
- Disease Ontology
- DOID:1064
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 353 | APRT | adenine phosphoribosyltransferase | |
| 1497 | CTNS | cystinosin, lysosomal cystine transporter | |
| 1595 | CYP51A1 | cytochrome P450 family 51 subfamily A member 1 | |
| 1962 | EHHADH | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | |
| 2878 | GPX3 | glutathione peroxidase 3 | |
| 3958 | LGALS3 | galectin 3 | |
| 4669 | NAGLU | N-acetyl-alpha-glucosaminidase | |
| 4952 | OCRL | OCRL inositol polyphosphate-5-phosphatase | |
| 5563 | PRKAA2 | protein kinase AMP-activated catalytic subunit alpha 2 | |
| 6514 | SLC2A2 | solute carrier family 2 member 2 |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0100543 | Cognitive impairment |
| HP:0200026 | Ocular pain |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000026 | Male hypogonadism |
| HP:0000103 | Polyuria |
| HP:0000479 | Abnormal retinal morphology |
| HP:0000488 | Retinopathy |
| HP:0000495 | Recurrent corneal erosions |
| HP:0000618 | Blindness |
| HP:0000787 | Nephrolithiasis |
