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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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002857 | Genu valgum |
| HP:0002909 | Generalized aminoaciduria |
| HP:0002917 | Hypomagnesemia |
| HP:0003016 | Metaphyseal widening |
| HP:0003198 | Myopathy |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0003234 | Decreased circulating carnitine concentration |
| HP:0003251 | Male infertility |
| HP:0003358 | Elevated intracellular cystine |
| HP:0003593 | Infantile onset |
