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Hyperparathyroidism-jaw tumor syndrome

ORPHA:99880 · Disease · Disorder

HPO 表現型（共 34 項）

Obligate (100%)(3)

  • HypercalcemiaHP:0003072
  • Parathyroid adenomaHP:0002897
  • Primary hyperparathyroidismHP:0008200

Very frequent (99-80%)(4)

  • Abnormal parathyroid morphologyHP:0011766
  • Elevated circulating parathyroid hormone levelHP:0003165
  • HypercalciuriaHP:0002150
  • HypophosphatemiaHP:0002148

Frequent (79-30%)(9)

  • DysphagiaHP:0002015
  • FatigueHP:0012378
  • FibromaHP:0010614
  • Kidney stoneHP:0000787
  • NephrocalcinosisHP:0000121
  • OsteoporosisHP:0000939
  • PolydipsiaHP:0001959
  • Shortened QT intervalHP:0012232
  • Uterine leiomyomaHP:0000131

Occasional (29-5%)(13)

  • Bone painHP:0002653
  • ChondrocalcinosisHP:0000934
  • ConstipationHP:0002019
  • Episodic abdominal painHP:0002574
  • HeadacheHP:0002315
  • Mandibular painHP:0200025
  • Muscle weaknessHP:0001324
  • Nausea and vomitingHP:0002017
  • PancreatitisHP:0001733
  • Peptic ulcerHP:0004398
  • Renal cystHP:0000107
  • Renal hamartomaHP:0008696
  • Renal insufficiencyHP:0000083

Very rare (<4-1%)(5)

  • LipomaHP:0012032
  • NephroblastomaHP:0002667
  • Pancreatic adenocarcinomaHP:0006725
  • Testicular neoplasmHP:0010788
  • Thyroid carcinomaHP:0002890