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Carney complex

ORPHA:1359 · Disease · Disorder

HPO 表現型（共 64 項）

Very frequent (99-80%)(1)

  • Pigmented micronodular adrenocortical diseaseHP:0001580

Frequent (79-30%)(17)

  • Atypical nevi in non-sun exposed areasHP:0001074
  • Blue nevusHP:0100814
  • Cardiac myxomaHP:0011672
  • Cutaneous myxomaHP:0030428
  • Elevated circulating growth hormone concentrationHP:0000845
  • Euthyroid multinodular goiterHP:0000866
  • Gonadal neoplasmHP:0010785
  • Increased circulating cortisol levelHP:0003118
  • Increased circulating insulin-like growth factor 1 concentrationHP:0030269
  • Increased circulating prolactin concentrationHP:0000870
  • Multiple cafe-au-lait spotsHP:0007565
  • Multiple lentiginesHP:0001003
  • Ovarian cystHP:0000138
  • Pituitary growth hormone cell adenomaHP:0011760
  • Sertoli cell neoplasmHP:0100619
  • Spotty hyperpigmentationHP:0005585
  • Testicular neoplasmHP:0010788

Occasional (29-5%)(37)

  • Abdominal obesityHP:0012743
  • Abnormal hard palate morphologyHP:0100737
  • Abnormal morphology of female internal genitaliaHP:0000008
  • Abnormal sperm motilityHP:0012206
  • Atypical behaviorHP:0000708
  • Bruising susceptibilityHP:0000978
  • Congestive heart failureHP:0001635
  • Decreased fertility in malesHP:0012041
  • Dorsocervical fat padHP:0025383
  • Ductal carcinoma in situHP:0030075
  • EnchondromaHP:0030038
  • Esophageal neoplasmHP:0100751
  • Fibroadenoma of the breastHP:0010619
  • Growth abnormalityHP:0001507
  • GynecomastiaHP:0000771
  • HirsutismHP:0001007
  • HypertensionHP:0000822
  • Increased body weightHP:0004324
  • Leydig cell neoplasiaHP:0100618
  • MacroorchidismHP:0000053
  • Moon faciesHP:0500011
  • Muscle weaknessHP:0001324
  • Neoplasm of the breastHP:0100013
  • Neoplasm of the pharynxHP:0100638
  • Neoplasm of the stomachHP:0006753
  • Nodular changes affecting the eyelidsHP:0010732
  • OligozoospermiaHP:0000798
  • Ovarian carcinomaHP:0025318
  • Ovarian dermoid cystHP:0025274
  • Ovarian serous cystadenomaHP:0012887
  • Paranasal sinus neoplasmHP:0030072
  • SchwannomaHP:0100008
  • Striae distensaeHP:0001065
  • StrokeHP:0001297
  • Testicular adrenal rest tumorHP:0025451
  • ThromboembolismHP:0001907
  • Tongue nodulesHP:0000199

Very rare (<4-1%)(9)

  • Dilatation of the cerebral arteryHP:0004944
  • Follicular thyroid carcinomaHP:0006731
  • Hepatocellular carcinomaHP:0001402
  • Neoplasm of the pancreasHP:0002894
  • Neoplasm of the rectumHP:0100743
  • Papillary thyroid carcinomaHP:0002895
  • Precocious pubertyHP:0000826
  • Tall statureHP:0000098
  • Thyroid carcinomaHP:0002890