Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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:0000083 | Renal insufficiency |
| HP:0000093 | Proteinuria |
| HP:0000114 | Proximal tubulopathy |
| HP:0000117 | Renal phosphate wasting |
| HP:0000124 | Renal tubular dysfunction |
| HP:0000481 | Abnormal cornea morphology |
| HP:0000505 | Visual impairment |
| HP:0000531 | Corneal crystals |
| HP:0000580 | Pigmentary retinopathy |
| HP:0000613 | Photophobia |
