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Multiple endocrine neoplasia type 2

ORPHA:653 · Disease · Disorder

HPO 表現型（共 48 項）

Very frequent (99-80%)(1)

  • Medullary thyroid carcinomaHP:0002865

Frequent (79-30%)(18)

  • AnxietyHP:0000739
  • Cervical neoplasmHP:0032241
  • DiarrheaHP:0002014
  • Elevated circulating calcitonin concentrationHP:0003528
  • Elevated urinary catecholamine levelHP:0011976
  • Elevated urinary epinephrine levelHP:0003639
  • Elevated urinary norepinephrine levelHP:0003345
  • Elevated urinary vanillylmandelic acidHP:0011978
  • HeadacheHP:0002315
  • HyperhidrosisHP:0000975
  • Hypertension associated with pheochromocytomaHP:0002640
  • Hypertensive crisisHP:0100735
  • PallorHP:0000980
  • PalpitationsHP:0001962
  • Parathyroid hyperplasiaHP:0008208
  • PheochromocytomaHP:0002666
  • Thyroid C cell hyperplasiaHP:0011781
  • Thyroid noduleHP:0025388

Occasional (29-5%)(26)

  • Abdominal distentionHP:0003270
  • Abnormal tongue morphologyHP:0030809
  • Aganglionic megacolonHP:0002251
  • Cervical lymphadenopathyHP:0025289
  • ConstipationHP:0002019
  • Cutaneous lichen amyloidosisHP:0032346
  • Disproportionate tall statureHP:0001519
  • Elevated circulating parathyroid hormone levelHP:0003165
  • GanglioneuromatosisHP:0025151
  • HypercalcemiaHP:0003072
  • HypercalciuriaHP:0002150
  • HyperlordosisHP:0003307
  • Kidney stoneHP:0000787
  • KyphoscoliosisHP:0002751
  • Multiple mucosal neuromasHP:0031023
  • Muscle weaknessHP:0001324
  • Neck painHP:0030833
  • Neoplasm of the liverHP:0002896
  • Neoplasm of the lungHP:0100526
  • Neoplasm of the skeletal systemHP:0010622
  • NeuromaHP:0030430
  • Paraganglioma of head and neckHP:0002864
  • Parathyroid adenomaHP:0002897
  • Primary hyperparathyroidismHP:0008200
  • Prominent corneal nerve fibersHP:0010726
  • Thick vermilion borderHP:0012471

Very rare (<4-1%)(3)

  • Joint hypermobilityHP:0001382
  • Proximal amyotrophyHP:0007126
  • Reduced subcutaneous adipose tissueHP:0003758