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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:0000790 | Hematuria |
| HP:0000819 | Diabetes mellitus |
| HP:0000823 | Delayed puberty |
| HP:0000832 | Primary hypothyroidism |
| HP:0000897 | Rachitic rosary |
| HP:0000966 | Hypohidrosis |
| HP:0001010 | Hypopigmentation of the skin |
| HP:0001249 | Intellectual disability |
| HP:0001263 | Global developmental delay |
| HP:0001507 | Growth abnormality |
