Cystinosis: lysosomal storage disorders of unknown molecular defect, characterized by widespread deposition of cystine crystals in reticuloendothelial cells.
Cystinosis: 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.
Cystinosis is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Cystinosis, or a subtype of Cystinosis, affects less than 200,000 people in the US population.
Ophanet, a consortium of European partners, currently defines a condition rare when if affects 1 person per 2,000. They list Cystinosis as a "rare disease".
Cystinosis (medical condition): See Cystinosis (disease information).
The following list attempts to classify Cystinosis into categories where each line is subset of the next.