Glucocorticoid Receptor Deficiency

A hereditary autosomal dominant disease characterized by increased plasma and urinary CORTISOL, resistance to adrenal suppression by DEXAMETHASONE, and the absence of clinical stigmata of CUSHING SYNDROME. Symptoms are variable but may include HYPOGLYCEMIA; HYPERTENSION, and metabolic ALKALOSIS; CHRONIC FATIGUE SYNDROME, and ANXIETY. In females, overproduction of adrenal ANDROGENS may cause INFERTILITY, ALOPECIA (male pattern bladness) HIRSUTISM, and menstrual irregularities. Caused by mutations in the NR3C1 gene. OMIM: 615962

Also Known As:

Body Composition, Beneficial; Cortisol Resistance from Glucocorticoid Receptor Defect; GCCR Deficiency; GCR Deficiency; Glucocorticoid Resistance; Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Glucocorticoid Receptor Deficiency: 594
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Glucocorticoid Receptor Deficiency: 594
Amino Acids, Peptides, and Proteins: 1
- Proteins: 496323
  - Cytoplasmic and Nuclear Receptors: 4079
    - Steroid Receptors: 2077
      - Glucocorticoid Receptors: 3452
        Glucocorticoid Receptor Deficiency: 594

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Disease

Drug/Important Bio-Agent (IBA)