Fanconi renotubular syndrome 1
ORPHA: 3337
Overview
human disease
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 Fanconi renotubular syndrome 1, sourced from HPO and Orphanet clinical annotations.
Renal phosphate wastingGrowth delayProximal renal tubular acidosisGeneralized aminoaciduriaGlycosuriaLow-molecular-weight proteinuriaHyperuricosuriaBicarbonaturiaBicarbonate-wasting renal tubular acidosisHyperchloremic metabolic acidosisAbnormal urine pHMuscle weaknessWeight lossHypophosphatemiaBone painIncreased susceptibility to fracturesOsteomalaciaHypokalemiaIncreased urinary potassiumDecreased circulating carnitine concentrationHypouricemiaHypophosphatemic ricketsRenal sodium wastingChronic kidney diseaseDehydrationHypercalciuriaStage 5 chronic kidney diseaseHypoglycemiaPulmonary fibrosis
Classification & Codes
Orphanet Code
ORPHA:3337Fanconi renotubular syndrome 1
| Orphanet | ORPHA:3337 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO