ALG1-CDG
ORPHA: 793271 Treatment Available
Overview
medical condition
Available Treatments (1)
| Drug | Form | Status | Countries | Lead Time |
|---|---|---|---|---|
| mannose Orphan | Oral powder for solution; Oral capsule 500mg | Investigational | 6 | 14d |
Clinical Presentation
Signs and symptoms associated with ALG1-CDG, sourced from HPO and Orphanet clinical annotations.
Intellectual disabilitySeizureHypotoniaGlobal developmental delayProgressive microcephalyAbnormality of the eyeStrabismusAbnormality of the skeletal systemMild intellectual disabilityAbnormality of blood and blood-forming tissuesAbnormal facial shapeChronic diarrheaScoliosisHypoalbuminemiaAbnormality of the gastrointestinal tractSevere global developmental delayBrain imaging abnormalityAbnormality of the kidneyRenal insufficiencyNephrotic syndromeNystagmusCerebellar atrophyLimitation of joint mobilityDecreased liver functionAbnormal heart morphologyCardiomyopathyCerebral atrophyProtein-losing enteropathyRecurrent infectionsImmunodeficiencyKyphosisRespiratory failureSepsis
Classification & Codes
Orphanet Code
ORPHA:79327ALG1-CDG
| Orphanet | ORPHA:79327 |
| Treatments | 1 drug(s) |
| Symptoms on record | 33 signs |
| Status | published |
Treatment Summary
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO