Orphanet: Hypertension due to gain of function mutations in the mineralocorticoid receptor

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Hypertension due to gain-of-function mutations in the mineralocorticoid receptor

Disease definition

Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery.


  • Synonym(s):
    • Early-onset hypertension with exacerbation in pregnancy
    • Pseudohyperaldosteronism type 2
  • Prevalence: -
  • Inheritance: -
  • Age of onset: -
  • ICD-10: I15.1
  • OMIM: 605115
  • UMLS: C1854631
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.