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Gitelman syndrome

ORPHA:358 · Disease · Disorder

HPO 表現型（共 68 項）

Very frequent (99-80%)(1)

  • HypokalemiaHP:0002900

Frequent (79-30%)(6)

  • Abdominal painHP:0002027
  • Failure to thriveHP:0001508
  • HypomagnesemiaHP:0002917
  • Low-to-normal blood pressureHP:0002632
  • Muscle weaknessHP:0001324
  • Prolonged QT intervalHP:0001657

Occasional (29-5%)(13)

  • Delayed pubertyHP:0000823
  • EnuresisHP:0000805
  • Glucose intoleranceHP:0001952
  • HypermagnesemiaHP:0002918
  • HypocalcemiaHP:0002901
  • Insulin resistanceHP:0000855
  • Metabolic alkalosisHP:0200114
  • Muscle spasmHP:0003394
  • Nausea and vomitingHP:0002017
  • NocturiaHP:0000017
  • ProteinuriaHP:0000093
  • Renal potassium wastingHP:0000128
  • Salt cravingHP:0030083

Very rare (<4-1%)(48)

  • Abnormal T-waveHP:0005135
  • ArthralgiaHP:0002829
  • Blurred visionHP:0000622
  • Cerebral calcificationHP:0002514
  • ChondrocalcinosisHP:0000934
  • ConstipationHP:0002019
  • Decreased urinary potassiumHP:0012364
  • Diabetic ketoacidosisHP:0001953
  • DiarrheaHP:0002014
  • Excessive daytime somnolenceHP:0001262
  • Focal segmental glomerulosclerosisHP:0000097
  • Focal-onset seizureHP:0007359
  • GoutHP:0001997
  • Graves diseaseHP:0100647
  • Hashimoto thyroiditisHP:0000872
  • HeadacheHP:0002315
  • HyperhidrosisHP:0000975
  • InsomniaHP:0100785
  • Iron deficiency anemiaHP:0001891
  • Maternal diabetesHP:0009800
  • Mitochondrial encephalopathyHP:0006789
  • MyalgiaHP:0003326
  • Neoplasm of the pancreasHP:0002894
  • PalpitationsHP:0001962
  • ParalysisHP:0003470
  • Parathyroid adenomaHP:0002897
  • ParesthesiaHP:0003401
  • Pericardial effusionHP:0001698
  • PolydipsiaHP:0001959
  • Primary hyperaldosteronismHP:0011736
  • Prolonged PR intervalHP:0012248
  • Prominent U waveHP:0025072
  • Raynaud phenomenonHP:0030880
  • Renal Fanconi syndromeHP:0001994
  • Renal tubular acidosisHP:0001947
  • Respiratory distressHP:0002098
  • RhabdomyolysisHP:0003201
  • SclerodermaHP:0100324
  • ST segment depressionHP:0012250
  • SyncopeHP:0001279
  • TinnitusHP:0000360
  • Tubulointerstitial nephritisHP:0001970
  • Type I diabetes mellitusHP:0100651
  • Type II diabetes mellitusHP:0005978
  • Urinary incontinenceHP:0000020
  • Varicose veinsHP:0002619
  • Ventricular fibrillationHP:0001663
  • VertigoHP:0002321