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. [ Orphanet:88660 ]
Synonyms: pseudohyperaldosteronism type 2 hypertension due to gain-of-function mutations in the mineralocorticoid receptor hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy early-onset hypertension with exacerbation in pregnancy
Term information
- GARD:19093 (Orphanet:88660)
- SCTID:766937004 (MONDO:equivalentTo)
- MESH:C565359 (MONDO:equivalentTo)
- UMLS:C1854631 (Orphanet:88660)
- OMIM:605115 (Orphanet:88660/e)
- Orphanet:88660 (OMIM:605115)
gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen
http://www.orpha.net/ORDO/Orphanet_88660
http://identifiers.org/mesh/C565359
http://linkedlifedata.com/resource/umls/id/C1854631
https://omim.org/entry/605115
http://identifiers.org/snomedct/766937004
hypertension, early-onset, autosomal dominant, with Severe exacerbation in pregnancy
hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy