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Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

Disease definition

Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.

ORPHA:90795

  • Synonym(s):
    • CAH due to 11-beta-hydroxylase deficiency
    • CYP11B1 deficiency
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E25.0
  • OMIM: 202010
  • UMLS: C0268292
  • MeSH: C535978
  • GARD: 5658
  • MedDRA: 10000002

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