GTR Home > Conditions/Phenotypes > Glucocorticoid-remediable aldosteronism

Summary

Glucocorticoid-remediable aldosteronism is an autosomal dominant disorder characterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol (Lifton et al., 1992). There is significant phenotypic heterogeneity, and some individuals never develop hypertension (Stowasser et al., 2000). Genetic Heterogeneity of Familial Hyperaldosteronism Familial hyperaldosteronism type II (605635) has been mapped to chromosome 7p22. Familial hyperaldosteronism type III (613677) is caused by mutation in the KCNJ5 gene (600734) on chromosome 11q24. [from OMIM]

Associated genes

Clinical features

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  • Hypertension
  • Hyperaldosteronism
  • Abnormality of the urinary system
  • Adrenogenital syndrome
  • Decreased circulating renin level
  • Adrenal hyperplasia
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