transaldolase deficiency
MeSH: C563207ORPHA: 101028
Overview
medical condition
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 transaldolase deficiency, sourced from HPO and Orphanet clinical annotations.
CirrhosisHepatosplenomegalyThrombocytopeniaAnemiaAbnormal circulating glutamine concentrationIncreased serum bile acid concentrationAbnormal clitoris morphologyAbnormality of the kidneyEdemaTelangiectasiaHydrops fetalisAbnormal facial shapePremature skin wrinklingGlobal developmental delayAtrial septal defectCoarctation of aortaAbnormal respiratory system physiologyBiventricular hypertrophy
Classification & Codes
MeSH Code
C563207Orphanet Code
ORPHA:101028transaldolase deficiency
| MeSH | C563207 |
| Orphanet | ORPHA:101028 |
| Treatments | 0 drug(s) |
| Symptoms on record | 18 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO