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GTR Home > Conditions/Phenotypes > Pseudohyperaldosteronism type 2

Pseudohyperaldosteronism type 2

Synonyms
Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy

Summary

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. [from ORDO]

Available tests

15 tests are in the database for this condition.

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Clinical tests (15 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MCR, MLR, MR, NR3C2VIT, NR3C2
    Summary: nuclear receptor subfamily 3 group C member 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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