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Pediatric-onset Graves disease

ORPHA:525731 · Disease · Disorder

HPO 表現型（共 48 項）

Very frequent (99-80%)(5)

  • AutoimmunityHP:0002960
  • Graves diseaseHP:0100647
  • Increased circulating T4 concentrationHP:0031506
  • Sinus tachycardiaHP:0011703
  • Thyrotoxicosis with diffuse goiterHP:0011784

Frequent (79-30%)(24)

  • Abnormal eyelid morphologyHP:0000492
  • Accelerated skeletal maturationHP:0005616
  • Anti-thyroid peroxidase antibody positivityHP:0025379
  • DiarrheaHP:0002014
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Emotional labilityHP:0000712
  • Failure to thriveHP:0001508
  • FlushingHP:0031284
  • GoiterHP:0000853
  • HepatomegalyHP:0002240
  • HyperactivityHP:0000752
  • HyperhidrosisHP:0000975
  • Hyperkinetic movementsHP:0002487
  • Increased circulating free T3HP:0011788
  • InsomniaHP:0100785
  • IrritabilityHP:0000737
  • PalpitationsHP:0001962
  • PolydipsiaHP:0001959
  • PolyphagiaHP:0002591
  • ProptosisHP:0000520
  • Puberty and gonadal disordersHP:0008373
  • Small anterior fontanelleHP:0000237
  • SplenomegalyHP:0001744
  • TremorHP:0001337

Occasional (29-5%)(12)

  • Atrial fibrillationHP:0005110
  • Atypical behaviorHP:0000708
  • CraniosynostosisHP:0001363
  • EpiscleritisHP:0100534
  • HypertensionHP:0000822
  • Increased fetal movementHP:0010519
  • Intrauterine growth retardationHP:0001511
  • JaundiceHP:0000952
  • Nausea and vomitingHP:0002017
  • OligohydramniosHP:0001562
  • Premature birthHP:0001622
  • ThrombocytopeniaHP:0001873

Very rare (<4-1%)(7)

  • Autoimmune neutropeniaHP:0001904
  • Congestive heart failureHP:0001635
  • Global developmental delayHP:0001263
  • KeratitisHP:0000491
  • MicrocephalyHP:0000252
  • Neonatal asphyxiaHP:0012768
  • Pretibial myxedemaHP:0200028