nephropathic infantile cystinosis
ORPHA: 411629
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 nephropathic infantile cystinosis, sourced from HPO and Orphanet clinical annotations.
Renal tubular dysfunctionCorneal crystalsPhotophobiaFailure to thriveGrowth delayAcidosisDehydrationPolydipsiaAbnormal tubulointerstitial morphologyRenal Fanconi syndromeVomitingConstipationHypophosphatemiaRicketsHypokalemiaGlycosuriaHyperphosphaturiaAbnormal blood ion concentrationLow-molecular-weight proteinuriaAminoaciduriaHyperchloremic metabolic acidosisAbnormality of vitamin D metabolismAbnormal cornea morphologyPigmentary retinopathyAbnormality of thyroid physiologyAbnormal cerebral white matter morphologyCognitive impairment
Classification & Codes
Orphanet Code
ORPHA:411629nephropathic infantile cystinosis
| Orphanet | ORPHA:411629 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO