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GENATLAS PHENOTYPE
last update : 27-03-2009
Symbol AHC
Location Xp21.2
HGNC id 342
Name adrenal hypoplasia, congenital
Corresponding gene NR0B1
Other symbol(s) AHX
Main clinical features
  • adrenal insufficiency, hypogonadotropic hypogonadism and failure to undergo puberty
  • primary adrenocortical failure occurs because the adrenal glands lack the permanent adult cortical zone
    • Genetic determination sex linked
    Related entries including isolated mineralocorticoid deficiency, adrenal hypoplasia with precocious puberty
    Function/system disorder endocrinology
    Type disease
    Gene product
    Name nuclear receptor subfamily 0, group B, member 1 (NR0B1)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
    Remark(s)
    Genotype/Phenotype correlations missense mutation in the aminoterminus, may be partially compensated by redundant functional domains, and may be a cause of isolated mineralocorticoid deficiency