Cystinosis
Synonyms
Cystine Diatheses
Cystine Diathesis
Cystine Disease
Cystine Diseases
Cystine Storage Disease
Cystine Storage Diseases
Cystinoses
Cystinoses, Nephropathic
Cystinosin, Defect of
Cystinosis, Nephropathic
Defect of Cystinosin
Defect of Cystinosins
Diatheses, Cystine
Diathesis, Cystine
Lysosomal Cystine Transport Protein, Defect Of
Nephropathic Cystinoses
Nephropathic Cystinosis
Storage Disease, Cystine
Storage Diseases, Cystine
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.