GRACILE syndrome
MeSH: C537934ORPHA: 53693
Overview
inherited metabolic 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 GRACILE syndrome, sourced from HPO and Orphanet clinical annotations.
Hearing impairmentCirrhosisCholestasisHepatic steatosisIntrauterine growth retardationRenal Fanconi syndromeLactic acidosisIncreased circulating ferritin concentrationDecreased transferrin saturationElevated hepatic iron concentration
Classification & Codes
MeSH Code
C537934Orphanet Code
ORPHA:53693GRACILE syndrome
| MeSH | C537934 |
| Orphanet | ORPHA:53693 |
| Treatments | 0 drug(s) |
| Symptoms on record | 10 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO