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GENATLAS PHENOTYPE
last update : 02-06-2010
Symbol CYP11B1
Location 8q21
Name adrenal hyperplasia IV with hypertension (11 beta-hydroxylase deficiency)
Corresponding gene CYP11B1
Main clinical features
  • disorder of corticosteroid biosynthesis resulting in androgen excess, virilization, and hypertension
  • hypertensive form, female pseudohermaphroditism
  • virilization associated with glucocorticoid responsive hypertension, precocious pseudopuberty, height and weight above the 97th percentile, epiphyseals already completely closed, and completely virilized intersexual genitalia
    • Genetic determination autosomal recessive
    Prevalence 5 to 8% of all congenital adrenal hyperplasia cases
    Function/system disorder endocrinology
    Type disease
    Gene product
    Name steroid 11 beta-hydroxylase (CYP11B1)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function W116C
    missense   abnormal protein/loss of function L299P
    nonsense   truncated protein Q356X
    Remark(s)