juvenile nephropathic cystinosis
MeSH: C562683ORPHA: 411634
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 juvenile nephropathic cystinosis, sourced from HPO and Orphanet clinical annotations.
Abnormal cornea morphologyRenal insufficiencyProteinuriaProximal tubulopathyCorneal crystalsPhotophobiaRenal Fanconi syndromeVomitingGlycosuriaLow-molecular-weight proteinuriaAminoaciduriaOcular painRenal phosphate wastingHypothyroidismGrowth delayPolydipsiaHypophosphatemiaHypokalemiaHypocalcemiaHyponatremiaMicroscopic hematuriaElevated circulating creatinine concentrationHypouricemiaStage 5 chronic kidney diseasePoor appetiteElevated alkaline phosphatase of bone originAbnormal urine potassium concentrationChronic kidney diseaseElevated leukocyte cystineDecreased circulating vitamin D concentrationSeizureFailure to thriveMetabolic acidosisDehydrationDelayed skeletal maturationHypocalcemic tetanyHypovolemiaAbnormal long bone morphologyFeeding difficulties
Classification & Codes
MeSH Code
C562683Orphanet Code
ORPHA:411634juvenile nephropathic cystinosis
| MeSH | C562683 |
| Orphanet | ORPHA:411634 |
| Treatments | 0 drug(s) |
| Symptoms on record | 39 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO