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familial hyperaldosteronism

Disease Summary
Associated Targets (6)
Tclin

4

Tchem

2


Mondo Description Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol.
Mondo Term and Equivalent IDs
MONDO:0016525:  familial hyperaldosteronism
MESH:C580087: 
NCIT:C127160: 
OMIMPS:103900: 
Orphanet:235936: 
Orphanet:371861: 
SCTID:703231005: 
UMLS:C3713420: 
UMLS:CN229602: