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Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

ORPHA:2072 · Clinical subtype · Subtype of disorder

HPO 表現型（共 57 項）

Frequent (79-30%)(8)

  • Aortic valve calcificationHP:0004380
  • Calcification of the aortaHP:0004963
  • Corneal opacityHP:0007957
  • Decreased beta-glucocerebrosidase levelHP:0003656
  • Elevated circulating glucosylsphingosine concentrationHP:6001185
  • HepatosplenomegalyHP:0001433
  • Mitral valve calcificationHP:0004382
  • ThrombocytopeniaHP:0001873

Occasional (29-5%)(27)

  • AnemiaHP:0001903
  • Aortic valve stenosisHP:0001650
  • Attention deficit hyperactivity disorderHP:0007018
  • Gait disturbanceHP:0001288
  • Growth delayHP:0001510
  • Hallux valgusHP:0001822
  • HeadacheHP:0002315
  • HydrocephalusHP:0000238
  • HyperreflexiaHP:0001347
  • Hypoplasia of the corpus callosumHP:0002079
  • HyporeflexiaHP:0001265
  • Intellectual disabilityHP:0001249
  • Mitral regurgitationHP:0001653
  • Mitral stenosisHP:0001718
  • Oculomotor apraxiaHP:0000657
  • OphthalmoplegiaHP:0000602
  • PancytopeniaHP:0001876
  • Pes cavusHP:0001761
  • Pulmonary fibrosisHP:0002206
  • SeizureHP:0001250
  • Sensorineural hearing impairmentHP:0000407
  • Spastic paraplegiaHP:0001258
  • SplenomegalyHP:0001744
  • Spontaneous, recurrent epistaxisHP:0004406
  • StrabismusHP:0000486
  • Ventricular hypertrophyHP:0001714
  • VentriculomegalyHP:0002119

Very rare (<4-1%)(22)

  • Abnormal pulmonary interstitial morphologyHP:0006530
  • Abnormal saccadic eye movementsHP:0000570
  • Abnormal temper tantrumsHP:0025160
  • AzoospermiaHP:0000027
  • Bacterial endocarditisHP:0006689
  • BrachycephalyHP:0000248
  • CholelithiasisHP:0001081
  • EcchymosisHP:0031364
  • Esophageal varixHP:0002040
  • Feeding difficultiesHP:0011968
  • Hyperextensible skinHP:0000974
  • HypertoniaHP:0001276
  • Limb ataxiaHP:0002070
  • Motor delayHP:0001270
  • OpsoclonusHP:0010543
  • Pectus excavatumHP:0000767
  • PtosisHP:0000508
  • Pulmonary arterial hypertensionHP:0002092
  • ScoliosisHP:0002650
  • Skin ulcerHP:0200042
  • Supranuclear gaze palsyHP:0000605
  • Thoracolumbar kyphosisHP:0005619