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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the SLC3A1 or SLC7A9 gene cause cystinuria. The SLC3A1 and SLC7A9 genes provide instructions for making the two parts (subunits) of a protein complex that is primarily found in the kidneys. Normally this protein complex controls the reabsorption of certain amino acids, including cystine, into the blood from the filtered fluid that will become urine. Mutations in either the SLC3A1 gene or SLC7A9 gene disrupt the ability of the protein complex to reabsorb amino acids, which causes the amino acids to become concentrated in the urine. As the levels of cystine in the urine increase, the crystals typical of cystinuria form. The other amino acids that are reabsorbed by the protein complex do not create crystals when they accumulate in the urine.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/cystinuria/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Cystinuria?"},{"bodyHtml":"<p>As urine becomes more concentrated in the kidneys, the excess cystine forms crystals. Larger crystals become stones that may lodge in the kidneys or in the bladder. Sometimes cystine crystals combine with calcium molecules in the kidneys to form large stones. These crystals and stones can create blockages in the urinary tract and reduce the ability of the kidneys to eliminate waste through urine. The stones also provide sites where bacteria may cause infections.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/cystinuria\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"cystinuria","sourceDocuments":[{"name":"Cystinuria","reviewed":"2009-01","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:49.157811+00:00","label":"Causes","pageSha256":"f45275ada75fd0336e9e9d232fff334879b8257cc3852b3be45d6aa215ebe6c3","sourceUrl":"https://medlineplus.gov/genetics/condition/cystinuria/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/cystinuria"}],"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":"Cystinuria"},"schemaVersion":1}