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Pulmonary alveolar microlithiasis

ORPHA:60025 · Disease · Disorder

HPO 表現型（共 43 項）

Frequent (79-30%)(8)

  • Chest painHP:0100749
  • DyspneaHP:0002094
  • Elevated circulating surfactant protein concentrationHP:0032094
  • FatigueHP:0012378
  • Increased pulmonary vascular resistanceHP:0005317
  • Nonproductive coughHP:0031246
  • Oxygen desaturation on exertionHP:0030874
  • Restrictive ventilatory defectHP:0002091

Occasional (29-5%)(18)

  • BronchiectasisHP:0002110
  • Clubbing of fingersHP:0100759
  • CyanosisHP:0000961
  • Exertional dyspneaHP:0002875
  • Fatigable weaknessHP:0003473
  • HemoptysisHP:0002105
  • HepatomegalyHP:0002240
  • HypoxemiaHP:0012418
  • Interlobular septal thickeningHP:0030879
  • Peripheral edemaHP:0012398
  • Pleural thickeningHP:0031944
  • PneumothoraxHP:0002107
  • Pulmonary infiltratesHP:0002113
  • Respiratory insufficiencyHP:0002093
  • Right ventricular failureHP:0001708
  • Subpleural interstitial thickeningHP:0025178
  • TachypneaHP:0002789
  • Weight lossHP:0001824

Very rare (<4-1%)(15)

  • BronchitisHP:0012387
  • Calcification of the aortaHP:0004963
  • Calcium nephrolithiasisHP:0004724
  • Decreased fertilityHP:0000144
  • Ectopic calcificationHP:0010766
  • FeverHP:0001945
  • Gonadal calcificationHP:0008703
  • Ground-glass opacificationHP:0025179
  • HematuriaHP:0000790
  • Mitral valve calcificationHP:0004382
  • Pulmonary fibrosisHP:0002206
  • Respiratory failureHP:0002878
  • Respiratory tract infectionHP:0011947
  • Stippled calcification in carpal bonesHP:0004241
  • Testicular microlithiasisHP:0012215

Excluded (0%)(2)

  • Abnormal circulating calcium concentrationHP:0004363
  • Abnormal circulating phosphate ion concentrationHP:0100529