cystinosis
MeSH: D003554ORPHA: 213
Overview
lysosomal storage disease characterized by the abnormal accumulation of cystine in lysosomes
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with cystinosis, sourced from HPO and Orphanet clinical annotations.
ProteinuriaNephropathyRenal tubular dysfunctionPhotophobiaHypothyroidismDelayed pubertyMuscle weaknessFailure to thriveDehydrationPolydipsiaRenal Fanconi syndromeVomitingHypophosphatemiaHypokalemiaMyopathyAminoaciduriaShort statureCorneal opacityNephrogenic diabetes insipidusFatigueType I diabetes mellitusRenal insufficiencyNephrocalcinosisHypogonadismRetinopathyBand keratopathyNephrolithiasisGrowth delaySplenomegalyMetabolic acidosisHepatomegalyRicketsOsteomalaciaHypocalcemiaGlycosuriaHyperphosphaturiaElevated circulating alkaline phosphatase concentrationEMG: myopathic abnormalitiesFeeding difficultiesAciduriaAzoospermiaVisual impairmentHypotoniaMild intellectual disabilityGait disturbancePortal hypertensionExocrine pancreatic insufficiencyFeverGlucose intoleranceConstipationMalabsorptionAphasiaHyponatremiaDecreased circulating carnitine concentrationCranial nerve paralysisAbnormality of endocrine pancreas physiology
Classification & Codes
MeSH Code
D003554Orphanet Code
ORPHA:213cystinosis
| MeSH | D003554 |
| Orphanet | ORPHA:213 |
| Treatments | 0 drug(s) |
| Symptoms on record | 56 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO