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Condition report · Metabolic

Cystinosis

An inherited lysosomal storage disease caused by CTNS variants, in which cystine crystals build up in the kidneys, eyes and other organs.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

Cystinosis (nephropathic, juvenile and ocular forms)

Autosomal recessive

Infantile nephropathic cystinosis causes renal Fanconi syndrome, poor growth and progressive kidney failure; juvenile forms start later, and ocular cystinosis affects only the cornea.

What a diagnosis changes

Lifelong cysteamine treatment, started early, slows kidney decline and protects other organs, and cysteamine eye drops dissolve corneal crystals.

Genes analysed

Also known as

cystine diathesis; cystine disease; cystine storage disease; Cystinoses; Protein defect of cystin transport

Includes 4 related subtypes ↓
  • juvenile nephropathic cystinosis
  • nephropathic cystinosis
  • nephropathic infantile cystinosis
  • ocular cystinosis
MONDO:0016239Orphanet 213MedGen 1384792

Limitations

  • A common deletion of about 57 kb in CTNS accounts for many cases in people of Northern European ancestry; large deletions may not be reliably detected by short-read sequencing.

Other metabolic conditions

All conditions →

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One kit, sent to your home. Your entire genome sequenced at the clinical standard used for diagnostic decisions. Physician-ready reports delivered to your Genome Manager in 6–8 weeks — permanent and updated as science advances.

From $449

Free shipping · Results in 6–8 weeks

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