Fanconi syndrome
MeSH: D005198ORPHA: 3337
Overview
renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting
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 syndrome, 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
MeSH Code
D005198Orphanet Code
ORPHA:3337Fanconi syndrome
| MeSH | D005198 |
| 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