You are using an outdated browser. Please upgrade your browser to improve your experience.

pseudohyperaldosteronism type 2

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description 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.
Uniprot Description Inheritance is autosomal dominant. The disease is characterized by the onset of severe hypertension before the age of 20, and by suppression of aldosterone secretion.
Mondo Term and Equivalent IDs
MONDO:0011517:  pseudohyperaldosteronism type 2
MESH:C565359: 
Orphanet:88660: 
SCTID:766937004: 
UMLS:C1854631: