Cystinosis

Cystinosis is indexed under Rare / Orphan Chronic, Lysosomal Storage Disorders. Also known as nephropathic cystinosis.

US prevalence

~2,000 (~1 in 100,000-200,000) Source: Cystinosis Research Foundation. This figure comes from a professional society, registry, or study rather than a federal source. Label: REPORTED.

ICD-10-CM codes

E72.04

Typical onset

Infantile form: <1 year; late-onset: childhood/adolescence

Course

progressive

Body systems

renal, endocrine, ophthalmologic

Sex differences

Equal (autosomal recessive)

Racial and ethnic differences

Pan-ethnic

What this page does not establish

These figures describe populations, not individuals, and none of them is a diagnosis or a treatment recommendation. Prevalence estimates are approximate and reflect published ranges. Disparity figures are reported patterns, not causes.

Taxonomy last reviewed 2026-05-19. Each figure on the interactive page carries its own source and retrieval date, which can be later than this review.

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