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Generalized arterial calcification of infancy

ORPHA:51608 · Disease · Disorder

HPO 表現型（共 60 項）

Very frequent (99-80%)(4)

  • Arterial calcificationHP:0003207
  • Calcification of the aortaHP:0004963
  • Generalized arterial calcificationHP:0004940
  • Hepatic calcificationHP:0006559

Frequent (79-30%)(17)

  • Coronary artery calcificationHP:0001717
  • CyanosisHP:0000961
  • Ectopic calcificationHP:0010766
  • Feeding difficultiesHP:0011968
  • Fetal distressHP:0025116
  • Hearing impairmentHP:0000365
  • HypertensionHP:0000822
  • Hypophosphatemic ricketsHP:0004912
  • Left ventricular systolic dysfunctionHP:0025169
  • Medial calcification of large arteriesHP:0004966
  • Medial calcification of medium-sized arteriesHP:0012457
  • Medullary nephrocalcinosisHP:0012408
  • NephrocalcinosisHP:0000121
  • OsteomalaciaHP:0002749
  • Periarticular calcificationHP:0025477
  • PolyhydramniosHP:0001561
  • Respiratory distressHP:0002098

Occasional (29-5%)(24)

  • Abnormal calcification of the carpal bonesHP:0009164
  • Abnormal retinal arterial/arteriolar morphologyHP:0000630
  • ArthralgiaHP:0002829
  • AscitesHP:0001541
  • CardiomegalyHP:0001640
  • Conductive hearing impairmentHP:0000405
  • Cortical nephrocalcinosisHP:0012409
  • EdemaHP:0000969
  • Elevated alkaline phosphatase of bone originHP:0010639
  • Failure to thrive in infancyHP:0001531
  • FeverHP:0001945
  • Fused cervical vertebraeHP:0002949
  • Hydrops fetalisHP:0001789
  • IrritabilityHP:0000737
  • Mixed hearing impairmentHP:0000410
  • Pericardial effusionHP:0001698
  • Recurrent spontaneous abortionHP:0200067
  • Sensorineural hearing impairmentHP:0000407
  • Stapes ankylosisHP:0000381
  • Stippled calcification of the elbowHP:0003941
  • Stippled calcification of the shoulderHP:0003836
  • Ventricular hypertrophyHP:0001714
  • VomitingHP:0002013
  • Weak pulseHP:0032553

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

  • Angioid streaksHP:0001102
  • Aortic dissectionHP:0002647
  • Calcification of the auricular cartilageHP:0005103
  • Cerebral calcificationHP:0002514
  • Choroidal neovascularizationHP:0011506
  • EncephalomalaciaHP:0040197
  • GangreneHP:0100758
  • HyperphosphaturiaHP:0003109
  • Myocardial calcificationHP:0006690
  • Pulmonary arterial hypertensionHP:0002092
  • Retinal hemorrhageHP:0000573
  • SeizureHP:0001250
  • Severe global developmental delayHP:0011344
  • StrokeHP:0001297
  • Transient ischemic attackHP:0002326