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.
Also Known As:
Cystine Diathesis; Cystine Disease; Cystine Storage Disease; Cystinoses; Cystinosin, Defect of; Cystinosis, Nephropathic; Lysosomal Cystine Transport Protein, Defect Of; Nephropathic Cystinosis; Cystine Diatheses; Cystine Diseases; Cystine Storage Diseases; Cystinoses, Nephropathic; Defect of Cystinosin; Diatheses, Cystine; Diathesis, Cystine; Nephropathic Cystinoses; Storage Disease, Cystine; Storage Diseases, Cystine