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last update : 02-06-2010
Symbol GSH
Location 8q24.3
Name glucocorticoid remediable aldosteronism
Other name(s)
  • hyperaldosteronism, familial, type I
  • ACTH-dependent hyperaldosteronism syndrome
  • Corresponding gene CYP11B1 , CYP11B2
    Other symbol(s) FH-I, GRA
    Main clinical features . hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production
  • low plasma renin activity, and increased aldosterone secretion, responsive to dexamethasone treatment; growth and sexual development were normal
  • Genetic determination autosomal dominant
    Related entries FH-II
    Function/system disorder cardiovascular
    Type disease
    Gene product
    Name cytochrome p450, subfamily XIB (CYP11B2) or chimeric (CYP11B2-B1) gene
    Gene mutationChromosome rearrangementEffectComments
    other     caused by a hybrid gene mutation formed by a cross-over of genetic material between the ACTH-responsive regulatory portion of the 11b-hydroxylase (CYP11B1) gene and the coding region of the aldosterone synthase (CYP11B2) gene.