Cystinosis
MESHD003554
A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME.
Synonyms
- Cystine Storage Disease
- Cystine Storage Diseases
- Storage Disease, Cystine
- Storage Diseases, Cystine
- Lysosomal Cystine Transport Protein, Defect Of
- Cystine Disease
- Cystine Diseases
- Cystinoses
- Cystine Diathesis
- Cystine Diatheses
- Diatheses, Cystine
- Diathesis, Cystine
- Cystinosin, Defect of
- Defect of Cystinosin
- Nephropathic Cystinosis
- Cystinosis, Nephropathic
- Cystinoses, Nephropathic
- Nephropathic Cystinoses
Source last updated 2026-05-24T15:27:57.172Z