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Familial hypoaldosteronism

Disease definition

Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone).

ORPHA:427

  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E27.4
  • OMIM: 203400  606984  610600
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

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