sialuria
ICD-10: E77.8MeSH: D029461ORPHA: 3166
Overview
lysosomal storage disease characterized by increased sialic acid in the urine
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 sialuria, sourced from HPO and Orphanet clinical annotations.
Thin upper lip vermilionCoarse facial featuresEpicanthusHypertelorismSmooth philtrumLow-set earsWide nasal bridgePeriorbital fullnessDysostosis multiplexCholelithiasisSeizureMild intellectual disabilityGeneralized hypotoniaJoint hypermobilityHepatosplenomegalyHoarse voiceLong halluxAbnormality of metabolism/homeostasisAbnormal facial shapeHepatomegalyMemory impairmentExpressive language delayHyperkinetic movementsEpisodic abdominal painHigh, narrow palateUpper airway obstructionElevated circulating hepatic transaminase concentrationProlonged partial thromboplastin time2-3 toe syndactylyAttention deficit hyperactivity disorderProlonged prothrombin timeNeuropathic spinal arthropathySleep apneaProminent foreheadAbnormality of the mitochondrionGlobal developmental delay
Classification & Codes
ICD-10 Code
E77.8MeSH Code
D029461Orphanet Code
ORPHA:3166sialuria
| ICD-10 | E77.8 |
| MeSH | D029461 |
| Orphanet | ORPHA:3166 |
| Treatments | 0 drug(s) |
| Symptoms on record | 36 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO