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Fabry disease

ORPHA:324 · Disease · Disorder

HPO 表現型（共 76 項）

Very frequent (99-80%)(25)

  • Abdominal painHP:0002027
  • Abnormal glycosphingolipid metabolismHP:0004343
  • AnemiaHP:0001903
  • AngiokeratomaHP:0001014
  • ArthralgiaHP:0002829
  • ArthritisHP:0001369
  • Congestive heart failureHP:0001635
  • Conjunctival telangiectasiaHP:0000524
  • Corneal dystrophyHP:0001131
  • Corneal opacityHP:0007957
  • Decreased alpha-galactosidase A activityHP:0034864
  • Elevated circulating globotriaosylceramide concentrationHP:0033595
  • FatigueHP:0012378
  • Hearing impairmentHP:0000365
  • HematuriaHP:0000790
  • HyperkeratosisHP:0000962
  • HypohidrosisHP:0000966
  • MalabsorptionHP:0002024
  • Mucosal telangiectasiaeHP:0100579
  • MyalgiaHP:0003326
  • Nephrotic syndromeHP:0000100
  • Renal insufficiencyHP:0000083
  • Subcutaneous noduleHP:0001482
  • Telangiectasia of the skinHP:0100585
  • Transient ischemic attackHP:0002326

Frequent (79-30%)(26)

  • Abnormal aortic valve morphologyHP:0001646
  • Abnormal circulating lipid concentrationHP:0003119
  • Abnormal renal tubule morphologyHP:0000091
  • AcroparesthesiaHP:0031006
  • AnorexiaHP:0002039
  • Atrioventricular blockHP:0001678
  • Atypical behaviorHP:0000708
  • Bundle branch blockHP:0011710
  • CataractHP:0000518
  • Chronic painHP:0012532
  • Coarse facial featuresHP:0000280
  • Cognitive impairmentHP:0100543
  • Cornea verticillataHP:0500008
  • Delayed pubertyHP:0000823
  • EmphysemaHP:0002097
  • Exercise intoleranceHP:0003546
  • Heat intoleranceHP:0002046
  • HyperlipidemiaHP:0003077
  • Mitral regurgitationHP:0001653
  • Nausea and vomitingHP:0002017
  • NephropathyHP:0000112
  • Optic atrophyHP:0000648
  • ProteinuriaHP:0000093
  • Short statureHP:0004322
  • Thick lower lip vermilionHP:0000179
  • TinnitusHP:0000360

Occasional (29-5%)(24)

  • Abnormal endocardium morphologyHP:0004306
  • Abnormal femur morphologyHP:0002823
  • Abnormal myocardium morphologyHP:0001637
  • AchalasiaHP:0002571
  • Angina pectorisHP:0001681
  • AnxietyHP:0000739
  • ArrhythmiaHP:0011675
  • Chronic pulmonary obstructionHP:0006510
  • DepressionHP:0000716
  • Developmental regressionHP:0002376
  • Diabetes insipidusHP:0000873
  • DyspneaHP:0002094
  • FeverHP:0001945
  • GlomerulopathyHP:0100820
  • HypertensionHP:0000822
  • Hypertrophic cardiomyopathyHP:0001639
  • Left ventricular hypertrophyHP:0001712
  • LymphedemaHP:0001004
  • Reduced bone mineral densityHP:0004349
  • Respiratory insufficiencyHP:0002093
  • SeizureHP:0001250
  • Sensorineural hearing impairmentHP:0000407
  • StrokeHP:0001297
  • VertigoHP:0002321

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

  • HyperhidrosisHP:0000975