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glucocorticoid-remediable aldosteronism

Disease Summary
Associated Targets (2)
Tclin

1

Tchem

1


GARD Rare
Mondo Description Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol.
Uniprot Description A disorder characterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol. There is significant phenotypic heterogeneity, and some individuals never develop hypertension.
Mondo Term and Equivalent IDs
MONDO:0007080:  glucocorticoid-remediable aldosteronism
GARD:0002790: 
ICD10:E26.02: 
MESH:C563177: 
Orphanet:403: 
UMLS:C1260386: 
UMLS:C3838731: