Short answer · Medically reviewed summary · Last updated: 2026-04-07
Cystinosis is an ultra-rare lysosomal storage disease with an estimated global prevalence of approximately 1 to 9 per 100,000 live births, though specific rates vary significantly by region and population. Incidence and Prevalence Data The incidence of Cystinosis is generally estimated at approximately 1 in 100,000 to 200,000 live births worldwide. Because Cystinosis is an autosomal recessive disorder, these numbers are higher in populations with higher rates of consanguinity.
What is the prevalence of Cystinosis?
Prevalence of Cystinosis: how many people are affected worldwide, differences by sex and region, with sources.
Cystinosis is an ultra-rare lysosomal storage disease with an estimated global prevalence of approximately 1 to 9 per 100,000 live births, though specific rates vary significantly by region and population.
Incidence and Prevalence Data
The incidence of Cystinosis is generally estimated at approximately 1 in 100,000 to 200,000 live births worldwide. Because Cystinosis is an autosomal recessive disorder, these numbers are higher in populations with higher rates of consanguinity. It is classified as an ultra-rare disease, meaning the total number of individuals living with the condition globally is likely in the low thousands.
Demographics and Onset
Cystinosis affects males and females equally, as the causative mutation occurs on the CTNS gene located on chromosome 17, which is not sex-linked. The disease typically presents in three forms: the most common and severe infantile nephropathic form, which manifests in the first year of life; the intermediate juvenile form; and the ocular non-nephropathic form, which may not be diagnosed until adulthood. While the infantile form is the most widely recognized, the prevalence of milder, late-onset cases is likely higher than current clinical data suggests.
Challenges in Data Collection
Accurate prevalence data for Cystinosis remains a challenge due to the high likelihood of underdiagnosis or misdiagnosis. Symptoms such as failure to thrive and renal Fanconi syndrome can mimic other conditions, leading to diagnostic delays. Our DiseaseMaps.org community, which includes 160 individuals living with Cystinosis, provides a vital, real-world perspective that complements traditional clinical registries. By sharing lived experiences, our members help bridge the gap between theoretical incidence and the reality of navigating life with this rare condition.
Medical Disclaimer: This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.
References
- Orphanet: The portal for rare diseases and orphan drugs (ORPHA:208)
- NIH Genetic and Rare Diseases Information Center (GARD): Cystinosis
- OMIM (Online Mendelian Inheritance in Man): Cystinosis; CTNS
