← 返回搜尋

GJC2-related late-onset primary lymphedema

ORPHA:568051 · Disease · Disorder

HPO 表現型（共 13 項）

Frequent (79-30%)(5)

  • Abnormal lymphatic vessel morphologyHP:0100766
  • Ankle swellingHP:0001785
  • Hypoplasia of lymphatic vesselsHP:0003759
  • Pedal edemaHP:0010741
  • Predominantly lower limb lymphedemaHP:0003550

Occasional (29-5%)(6)

  • CellulitisHP:0100658
  • Edema of the dorsum of handsHP:0007514
  • Facial edemaHP:0000282
  • Recurrent skin infectionsHP:0001581
  • Varicose veinsHP:0002619
  • Venous insufficiencyHP:0005293

Very rare (<4-1%)(2)

  • Genital edemaHP:0031188
  • PtosisHP:0000508