cystathioninuria
MeSH: C535408ORPHA: 212
Overview
amino acid metabolic disorder characterized by elevated plasma and urinary cystathionine levels that has material basis in homozygous or compound heterozygous mutation in the CTH gene on chromosome 1p31
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 cystathioninuria, sourced from HPO and Orphanet clinical annotations.
CystathioninuriaIntellectual disabilitySeizureCystathioninemiaNephrolithiasisTremorTalipes equinovarusAbnormal pinna morphology
Classification & Codes
MeSH Code
C535408Orphanet Code
ORPHA:212cystathioninuria
| MeSH | C535408 |
| Orphanet | ORPHA:212 |
| Treatments | 0 drug(s) |
| Symptoms on record | 8 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO