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Familial hypocalciuric hypercalcemia

ORPHA:405 · Disease · Disorder

HPO 表現型（共 20 項）

Obligate (100%)(1)

  • HypocalciuriaHP:0003127

Very frequent (99-80%)(2)

  • Parathormone-independent increased renal tubular calcium reabsorptionHP:0003529
  • Reduced ratio of renal calcium clearance to creatinine clearanceHP:0003513

Frequent (79-30%)(3)

  • HypercalcemiaHP:0003072
  • OsteomalaciaHP:0002749
  • Renal hypophosphatemiaHP:0008732

Occasional (29-5%)(8)

  • ChondrocalcinosisHP:0000934
  • Episodic abdominal painHP:0002574
  • FatigueHP:0012378
  • HeadacheHP:0002315
  • HypermagnesemiaHP:0002918
  • HypomagnesiuriaHP:0012609
  • Nausea and vomitingHP:0002017
  • Peptic ulcerHP:0004398

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

  • AutoimmunityHP:0002960
  • Hypocalcemic seizuresHP:0002199
  • Kidney stoneHP:0000787
  • LipomaHP:0012032
  • PancreatitisHP:0001733

Excluded (0%)(1)

  • NephrocalcinosisHP:0000121