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Multiple endocrine neoplasia type 1

ORPHA:652 · Disease · Disorder

HPO 表現型（共 74 項）

Very frequent (99-80%)(5)

  • AngiofibromasHP:0010615
  • HypercalcemiaHP:0003072
  • Impairment of activities of daily livingHP:0031058
  • Parathyroid hyperplasiaHP:0008208
  • Primary hyperparathyroidismHP:0008200

Frequent (79-30%)(18)

  • Abdominal painHP:0002027
  • Adrenocortical abnormalityHP:0000849
  • Decreased male libidoHP:0040306
  • DiarrheaHP:0002014
  • GalactorrheaHP:0100829
  • Gastroesophageal refluxHP:0002020
  • HypercalciuriaHP:0002150
  • HypergastrinemiaHP:0500167
  • ImpotenceHP:0000802
  • Large cafe-au-lait macules with irregular marginsHP:0005605
  • Multiple lipomasHP:0001012
  • Neoplasm of the pancreasHP:0002894
  • Peptic ulcerHP:0004398
  • Pituitary adenomaHP:0002893
  • Pituitary prolactin cell adenomaHP:0006767
  • Reduced bone mineral densityHP:0004349
  • Weight lossHP:0001824
  • Zollinger-Ellison syndromeHP:0002044

Occasional (29-5%)(37)

  • Abnormal circulating aldosterone concentrationHP:0040085
  • Adrenocortical carcinomaHP:0006744
  • AmenorrheaHP:0000141
  • AnorexiaHP:0002039
  • Carcinoid tumorHP:0100570
  • Confetti-like hypopigmented maculesHP:0007449
  • ConfusionHP:0001289
  • ConstipationHP:0002019
  • Cranial nerve compressionHP:0001293
  • Decreased vigilanceHP:0032044
  • DehydrationHP:0001944
  • DepressionHP:0000716
  • Duodenal ulcerHP:0002588
  • Elevated circulating growth hormone concentrationHP:0000845
  • Gingival fibromatosisHP:0000169
  • GoiterHP:0000853
  • HeadacheHP:0002315
  • HematemesisHP:0002248
  • HypertensionHP:0000822
  • Increased circulating cortisol levelHP:0003118
  • Increased susceptibility to fracturesHP:0002659
  • InsulinomaHP:0012197
  • Intestinal carcinoidHP:0006723
  • Kidney stoneHP:0000787
  • LethargyHP:0001254
  • MelenaHP:0002249
  • MeningiomaHP:0002858
  • NauseaHP:0002018
  • OsteolysisHP:0002797
  • Pancreatic endocrine tumorHP:0030405
  • Pituitary growth hormone cell adenomaHP:0011760
  • Primary hypercortisolismHP:0001579
  • Proportionate tall statureHP:0011407
  • Short attention spanHP:0000736
  • Shortened QT intervalHP:0012232
  • Thyroid carcinomaHP:0002890
  • VomitingHP:0002013

Very rare (<4-1%)(14)

  • Atypical absence status epilepticusHP:0011151
  • ComaHP:0001259
  • Elevated circulating calcitonin concentrationHP:0003528
  • EpendymomaHP:0002888
  • GlucagonomaHP:0030404
  • Increased serum serotoninHP:0003144
  • Parathyroid carcinomaHP:0006780
  • PheochromocytomaHP:0002666
  • Pituitary corticotropic cell adenomaHP:0008291
  • Pituitary gonadotropic cell adenomaHP:0011759
  • Pituitary null cell adenomaHP:0011761
  • Pituitary thyrotropic cell adenomaHP:0011762
  • Pulmonary carcinoid tumorHP:0030445
  • ThymomaHP:0100522