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Apparent mineralocorticoid excess

ORPHA:320 · Disease · Disorder

HPO 表現型（共 17 項）

Very frequent (99-80%)(3)

  • Decreased circulating renin concentrationHP:0003351
  • HypertensionHP:0000822
  • HypokalemiaHP:0002900

Frequent (79-30%)(8)

  • Abnormal urine sodium concentrationHP:0012603
  • Abnormality of circulating cortisol levelHP:0011731
  • Decreased circulating aldosterone concentrationHP:0004319
  • Failure to thriveHP:0001508
  • Hypokalemic metabolic alkalosisHP:0001960
  • NephrocalcinosisHP:0000121
  • PolydipsiaHP:0001959
  • Short statureHP:0004322

Occasional (29-5%)(5)

  • Hypertensive retinopathyHP:0001095
  • Intrauterine growth retardationHP:0001511
  • Left ventricular hypertrophyHP:0001712
  • Renal insufficiencyHP:0000083
  • StrokeHP:0001297

Excluded (0%)(1)

  • Renal sodium wastingHP:0012606