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Diseases

Genetic and Rare Diseases Information Center (GARD)

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11-beta-hydroxylase deficiency


Other Names for this Disease
  • 11-alpha beta-hydroxylase deficiency
  • Adrenal hyperplasia 4
  • Adrenal hyperplasia hypertensive form
  • Adrenal hyperplasia IV
  • Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
More Names
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Inheritance


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How is 11-beta-hydroxylase deficiency inherited?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.[1]
Last updated: 5/16/2012

References
  1. Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Genetics Home Reference (GHR). March 2011; http://ghr.nlm.nih.gov/condition/congenital-adrenal-hyperplasia-due-to-11-beta-hydroxylase-deficiency. Accessed 5/16/2012.