Cystinosis

**Definition:** 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.

**Tree numbers:** - C16.320.565.595.377 - C18.452.648.595.377

**Synonyms:** - Cystine Storage Disease - Lysosomal Cystine Transport Protein, Defect Of - Cystine Disease - Cystinoses - Cystine Diathesis - Cystinosin, Defect of