cystinuria
MeSH: D003555ORPHA: 214
Overview
amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder
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 cystinuria, sourced from HPO and Orphanet clinical annotations.
HypertensionNausea and vomitingHyperuricemiaAbnormal urinary odorHypocitraturiaFlank painCystine crystalluriaHypercalciuriaNephrolithiasisHematuriaCystinuriaAbnormality of amino acid metabolismRenal insufficiencyHyperuricosuriaEchogenic fetal colon
Classification & Codes
MeSH Code
D003555Orphanet Code
ORPHA:214cystinuria
| MeSH | D003555 |
| Orphanet | ORPHA:214 |
| Treatments | 0 drug(s) |
| Symptoms on record | 15 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO