Disease

Cystinosis1

Gene

CTNS

Inheritance AR
Current Treatments cysteamine, postassium phosphate, vitamin D, sodium bicarbonate, chlorophyllin to replace copper, carnitine, growth hormone, levothyroxine, insulin, testosterone, renal transplant
Evidence for Treatment guideline2
Non-Molecular Testing Availability yes
Non-Molecular Test slit-lamp examination of the eye, leukocytes cystine concentration 3
ClinGen https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC007
Disease Frequency (per 100,000) 0.754
Genes Included in Disease Frequency CTNS
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Cystinosis&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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