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PGM3-CDG

ORPHA:443811 · Disease · Disorder

HPO 表現型（共 63 項）

Very frequent (99-80%)(7)

  • AutoimmunityHP:0002960
  • Cutaneous abscessHP:0031292
  • Decreased total CD4+ T cell proportionHP:0032218
  • Eczematoid dermatitisHP:0000964
  • Recurrent infectionsHP:0002719
  • Recurrent respiratory infectionsHP:0002205
  • Recurrent skin infectionsHP:0001581

Frequent (79-30%)(18)

  • AtaxiaHP:0001251
  • Atopic dermatitisHP:0001047
  • Chronic otitis mediaHP:0000389
  • Decreased antigen-specific T cell proliferationHP:0031402
  • Decreased proportion of CD3-positive T cellsHP:0045080
  • Decreased total lymphocyte countHP:0001888
  • Decreased total T cell countHP:0005403
  • Failure to thriveHP:0001508
  • Increased circulating IgE concentrationHP:0003212
  • Increased circulating IgG concentrationHP:0003237
  • Moderate global developmental delayHP:0011343
  • Moderate intellectual disabilityHP:0002342
  • Recurrent bacterial infectionsHP:0002718
  • Recurrent pneumoniaHP:0006532
  • Recurrent viral infectionsHP:0004429
  • Rheumatoid factor positiveHP:0002923
  • SepsisHP:0100806
  • Vasculitis in the skinHP:0200029

Occasional (29-5%)(32)

  • Abnormal CD4:CD8 ratioHP:0031394
  • Abnormal facial shapeHP:0001999
  • Abnormal total CD8+ T cell numberHP:0031393
  • Abnormality of the skeletal systemHP:0000924
  • Allergic rhinitisHP:0003193
  • AsthmaHP:0002099
  • Autoimmune neutropeniaHP:0001904
  • Bone marrow hypocellularityHP:0005528
  • BronchiectasisHP:0002110
  • Chronic sinusitisHP:0011109
  • Conductive hearing impairmentHP:0000405
  • Cortical myoclonusHP:0040148
  • Decreased total leukocyte countHP:0001882
  • Decreased total neutrophil countHP:0001875
  • Decreased/absent ankle reflexesHP:0200101
  • DysarthriaHP:0001260
  • Hemolytic anemiaHP:0001878
  • High palateHP:0000218
  • Hyperactive patellar reflexHP:0007083
  • Increased circulating IgA concentrationHP:0003261
  • Increased total eosinophil countHP:0001880
  • Lactose intoleranceHP:0004789
  • LymphomaHP:0002665
  • Membranoproliferative glomerulonephritisHP:0000793
  • Mild neurosensory hearing impairmentHP:0008587
  • MyoclonusHP:0001336
  • Narrow palpebral fissureHP:0045025
  • Recurrent fungal infectionsHP:0002841
  • Reduced total natural killer cell countHP:0040218
  • Sensorineural hearing impairmentHP:0000407
  • Severe combined immunodeficiencyHP:0004430
  • Skin ulcerHP:0200042

Very rare (<4-1%)(6)

  • BrachydactylyHP:0001156
  • EsophagitisHP:0100633
  • Gastroesophageal refluxHP:0002020
  • OsteomyelitisHP:0002754
  • SeizureHP:0001250
  • Short statureHP:0004322