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Primary hyperaldosteronism-seizures-neurological abnormalities syndrome

ORPHA:369929 · Disease · Disorder

HPO 表現型（共 30 項）

Obligate (100%)(3)

  • Abnormal circulating renin concentrationHP:0040084
  • HypertensionHP:0000822
  • Increased circulating aldosterone concentrationHP:0000859

Very frequent (99-80%)(5)

  • Cerebral palsyHP:0100021
  • Global developmental delayHP:0001263
  • HypokalemiaHP:0002900
  • SeizureHP:0001250
  • Ventricular hypertrophyHP:0001714

Frequent (79-30%)(13)

  • AthetosisHP:0002305
  • Bilateral tonic-clonic seizureHP:0002069
  • Caesarean sectionHP:0011410
  • Cerebral visual impairmentHP:0100704
  • EMG: impaired neuromuscular transmissionHP:0100285
  • Focal impaired awareness seizureHP:0002384
  • Focal myoclonic seizureHP:0011166
  • Metabolic alkalosisHP:0200114
  • PolydipsiaHP:0001959
  • Pulmonary arterial hypertensionHP:0002092
  • Second degree atrioventricular blockHP:0011706
  • Severe intellectual disabilityHP:0010864
  • Spastic paraplegiaHP:0001258

Occasional (29-5%)(7)

  • EpistaxisHP:0000421
  • HeadacheHP:0002315
  • Intracranial hemorrhageHP:0002170
  • Kidney stoneHP:0000787
  • NauseaHP:0002018
  • TinnitusHP:0000360
  • Ventricular septal defectHP:0001629

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

  • Adrenal hyperplasiaHP:0008221

Excluded (0%)(1)

  • Dexamethasone-suppressible primary hyperaldosteronismHP:0011739