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GENATLAS PHENOTYPE
last update : 26-05-2015
Symbol CYP21A2
Location 6p21.3
Name adrenal hyperplasia III, female pseudohermaphroditism
Corresponding gene CYP21A2
Other symbol(s) CYP21
Main clinical features
  • with/without salt losing, cryptic non classic and latent forms, hirsutism hyperandrogenic women, virilization with advanced somatic growth, skeletal age and false precocious puberty in male (21-OH deficiency), sometimes with uniparental disomy
  • Genetic determination autosomal recessive
    Function/system disorder endocrinology
    Type disease
    Gene product
    Name cytochrome P450, family XIX, steroid 21-hydroxylase (CYP21A2) (see UD6PA)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion   abnormal protein/loss of function  
    unknown   under-expression mutation L317V associated with reduced steroid 21-hydroxylase activity probably due to structural shifts within the binding pocket and a mild phenotype
    Remark(s)