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11-Beta-Hydroxylase Deficiency

MedGen UID:
777159
Concept ID:
C3669121
Disease or Syndrome
Synonyms: 11 Beta Hydroxylase Deficiency; 11-Beta-hydroxylase deficiency; 11B Hydroxylase Deficiency; P450C11B1 deficiency; Steroid 11 Beta Hydroxylase Deficiency; Steroid 11-Beta-Hydroxylase Deficiency

Definition

Decreased or absent activity of the enzyme 11-beta-hydroxylase caused by loss-of-function mutations in the CYP11B1 gene, resulting in congenital adrenal hyperplasia. Clinical manifestations of this condition include virilization in 46XX infants and hypertension. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV11-Beta-Hydroxylase Deficiency

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