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Familial hyperthyroidism due to mutations in TSH receptor

ORPHA:424 · Disease · Disorder

HPO 表現型（共 17 項）

Obligate (100%)(2)

  • Activating thyroid-stimulating hormone receptor defectHP:0011790
  • HyperthyroidismHP:0000836

Very frequent (99-80%)(7)

  • DiarrheaHP:0002014
  • GoiterHP:0000853
  • Hand tremorHP:0002378
  • Small for gestational ageHP:0001518
  • Thyroid hyperplasiaHP:0008249
  • Thyrotoxicosis with diffuse goiterHP:0011784
  • Weight lossHP:0001824

Frequent (79-30%)(6)

  • Accelerated skeletal maturationHP:0005616
  • AgitationHP:0000713
  • Global developmental delayHP:0001263
  • HyperactivityHP:0000752
  • Motor delayHP:0001270
  • Sleep disturbanceHP:0002360

Excluded (0%)(2)

  • Abnormal eye morphologyHP:0012372
  • Autoimmune antibody positivityHP:0030057