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Lipodystrophy due to peptidic growth factors deficiency

ORPHA:1979 · Disease · Disorder

HPO 表現型（共 28 項）

Very frequent (99-80%)(17)

  • Abnormality of the faceHP:0000271
  • Aplasia/Hypoplasia of the skinHP:0008065
  • CachexiaHP:0004326
  • Convex nasal ridgeHP:0000444
  • Flexion contractureHP:0001371
  • Joint stiffnessHP:0001387
  • Lack of skin elasticityHP:0100679
  • LipoatrophyHP:0100578
  • LipodystrophyHP:0009125
  • MicrognathiaHP:0000347
  • Narrow mouthHP:0000160
  • Palmoplantar keratodermaHP:0000982
  • Pectus excavatumHP:0000767
  • Pes planusHP:0001763
  • Reduced subcutaneous adipose tissueHP:0003758
  • Thickened skinHP:0001072
  • Weight lossHP:0001824

Frequent (79-30%)(11)

  • Abnormal circulating lipid concentrationHP:0003119
  • Abnormal hair morphologyHP:0001595
  • Abnormal skin pigmentationHP:0001000
  • Abnormal thorax morphologyHP:0000765
  • Abnormality of the lower limbHP:0002814
  • Abnormality of the upper limbHP:0002817
  • AtherosclerosisHP:0002621
  • HyperlipoproteinemiaHP:0010980
  • Premature graying of hairHP:0002216
  • Reduced bone mineral densityHP:0004349
  • Type I diabetes mellitusHP:0100651