GTR Home > Conditions/Phenotypes > Pituitary dependent hypercortisolism


Cushing 'disease' is a condition associated with increased blood cortisol resulting from adrenocorticotropic hormone (ACTH)-producing pituitary tumors that are resistant to glucocorticoid negative feedback (Bilodeau et al., 2006). ACTH is formed as a precursor from the POMC gene product (176830). See also Cushing 'syndrome' (219080), in which excess cortisol secretion results from adrenocortical pathology. [from OMIM]

Associated genes

  • Also known as: ARA9, FKBP16, FKBP37, SMTPHN, XAP-2, XAP2, AIP
    Summary: aryl hydrocarbon receptor interacting protein

Clinical features

  • Hirsutism
  • Hypokalemia
  • Glucose intolerance
  • Round face
  • Facial erythema
  • Thin skin
  • Hypertension
  • Kyphosis
  • Poor wound healing
  • Biconcave vertebral bodies
  • Amyotrophy
  • Cataract
  • Striae distensae
  • Obesity
  • Reduced bone mineral density
  • Osteoporosis
  • Decreased fertility
  • Visual impairment
  • Nephrolithiasis
  • Diabetes mellitus
  • Secondary amenorrhea
  • Oligomenorrhea
  • Edema
  • Bruising susceptibility
  • Purpura
  • Acne
  • Psychotic mentation
  • Hypercortisolism
  • Hypertrophic cardiomyopathy
  • Paronychia
  • Alkalosis
  • Truncal obesity
  • Abdominal pain
  • Migraine
  • Sleep disturbance
  • Recurrent fractures
  • Vertebral compression fractures
  • Increased circulating ACTH level
  • Myopathy
  • Abnormality of the gastric mucosa
  • Reduced consciousness/confusion
  • Thrombophlebitis
  • Generalized hyperpigmentation
  • Abnormality of adipose tissue
  • Aseptic necrosis
  • Abnormality of immune system physiology
  • Neoplasm of the endocrine system
  • Teleangiectasia of the skin
  • Abnormal fear/anxiety-related behavior
  • Skin ulcer
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