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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
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003621 | Juvenile onset |
| HP:0004322 | Short stature |
| HP:0004911 | Episodic metabolic acidosis |
| HP:0004912 | Hypophosphatemic rickets |
| HP:0005599 | Hypopigmentation of hair |
| HP:0007663 | Reduced visual acuity |
| HP:0007814 | Retinal pigment epithelial mottling |
| HP:0011462 | Young adult onset |
| HP:0012408 | Medullary nephrocalcinosis |
