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Obesity due to pro-opiomelanocortin deficiency

ORPHA:71526 · Etiological subtype · Subtype of disorder

HPO 表現型（共 18 項）

Obligate (100%)(2)

  • Increased adipose tissueHP:0009126
  • ObesityHP:0001513

Very frequent (99-80%)(1)

  • PolyphagiaHP:0002591

Frequent (79-30%)(5)

  • Central adrenal insufficiencyHP:0011734
  • Childhood-onset truncal obesityHP:0008915
  • CholestasisHP:0001396
  • Hypopigmentation of the skinHP:0001010
  • Red hairHP:0002297

Occasional (29-5%)(10)

  • Acanthosis nigricansHP:0000956
  • Decreased response to growth hormone stimulation testHP:0000824
  • Delayed pubertyHP:0000823
  • Delayed skeletal maturationHP:0002750
  • Failure to thriveHP:0001508
  • Gonadotropin deficiencyHP:0008213
  • Growth delayHP:0001510
  • HyperinsulinemiaHP:0000842
  • Hypoglycemic seizuresHP:0002173
  • Pituitary hypothyroidismHP:0008245