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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>All three types of cystinosis are caused by mutations in the CTNS gene. Mutations in this gene lead to a deficiency of a transporter protein called cystinosin. Within cells, this protein normally moves cystine out of the lysosomes, which are compartments in the cell that digest and recycle materials. When cystinosin is defective or missing, cystine accumulates and forms crystals in the lysosomes. The buildup of cystine damages cells in the kidneys and eyes and may also affect other organs.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/cystinosis/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Cystinosis?"},{"bodyHtml":"<p>There are three distinct types of cystinosis. In order of decreasing severity, they are nephropathic cystinosis, intermediate cystinosis, and non-nephropathic or ocular cystinosis.</p><p>Nephropathic cystinosis begins in infancy, causing poor growth and a particular type of kidney damage (renal Fanconi syndrome) in which certain molecules that should be reabsorbed into the bloodstream are instead eliminated in the urine. The kidney problems lead to the loss of important minerals, salts, fluids, and many other nutrients. The loss of nutrients impairs growth and may result in soft, bowed bones (hypophosphatemic rickets), especially in the legs. The nutrient imbalances in the body lead to increased urination, thirst, dehydration, and abnormally acidic blood (acidosis). By about the age of 2, cystine crystals may be present in the clear covering of the eye (cornea). The buildup of these crystals in the eye causes pain and an increased sensitivity to light (photophobia). Untreated children will experience complete kidney failure by about the age of 10. Other signs and symptoms that may occur in untreated people, especially after adolescence, include muscle deterioration, blindness, inability to swallow, diabetes, thyroid and nervous system problems, and an inability to father children (infertility) in affected men.</p><p>The signs and symptoms of intermediate cystinosis are the same as nephropathic cystinosis, but they occur at a later age. Intermediate cystinosis typically becomes apparent in affected individuals in adolescence. Malfunctioning kidneys and corneal crystals are the main initial features of this disorder. If intermediate cystinosis is left untreated, complete kidney failure will occur, but usually not until the late teens to mid-twenties.</p><p>People with non-nephropathic or ocular cystinosis typically experience photophobia due to cystine crystals in the cornea, but usually do not develop kidney malfunction or most of the other signs and symptoms of cystinosis. Due to the absence of severe symptoms, the age at which this form of cystinosis is diagnosed varies widely.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/cystinosis\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"cystinosis","sourceDocuments":[{"name":"Cystinosis","reviewed":"2008-02","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:49.061323+00:00","label":"Causes","pageSha256":"462fa0b0826ce398fa62b09aee8e109636ea35682a51ec99b735cf503c11290b","sourceUrl":"https://medlineplus.gov/genetics/condition/cystinosis/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/cystinosis"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Cystinosis"},"schemaVersion":1}