PGM3 deficiency
ORPHA: 443811
Overview
genetic disorder
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 PGM3 deficiency, sourced from HPO and Orphanet clinical annotations.
Decreased total T cell countRecurrent pneumoniaModerate global developmental delayReduced antigen-specific T cell proliferationSepsisVasculitis in the skinHigh palateConductive hearing impairmentSensorineural hearing impairmentMembranoproliferative glomerulonephritisAbnormality of the skeletal systemDysarthriaMyoclonusDecreased total neutrophil countHemolytic anemiaIncreased total eosinophil countDecreased total leukocyte countAutoimmune neutropeniaAbnormal facial shapeAsthmaBronchiectasisLymphomaRecurrent fungal infectionsAllergic rhinitisIncreased circulating IgA concentrationSevere combined immunodeficiencyLactose intoleranceBone marrow hypocellularityHyperactive patellar reflexMild neurosensory hearing impairmentChronic sinusitisAbnormal CD8+ T cell proportionAbnormal CD4:CD8 ratioCortical myoclonusReduced total natural killer cell countNarrow palpebral fissureSkin ulcerDecreased/absent ankle reflexesBrachydactylySeizureGastroesophageal refluxOsteomyelitisShort statureEsophagitisEczematoid dermatitisRecurrent skin infectionsRecurrent respiratory infectionsRecurrent infectionsAutoimmunityCutaneous abscessDecreased CD4+ T cell proportionChronic otitis mediaAtopic dermatitisAtaxiaFailure to thriveDecreased total lymphocyte countModerate intellectual disabilityRecurrent bacterial infectionsRheumatoid factor positiveIncreased circulating IgE concentrationIncreased circulating IgG concentrationRecurrent viral infections
Classification & Codes
Orphanet Code
ORPHA:443811PGM3 deficiency
| Orphanet | ORPHA:443811 |
| Treatments | 0 drug(s) |
| Symptoms on record | 62 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO