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familial hyperaldosteronism type III

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia.
Uniprot Description A form of hyperaldosteronism characterized by hypertension secondary to massive adrenal mineralocorticoid production. HALD3 patients present with childhood hypertension, elevated aldosteronism levels, and high levels of the hybrid steroids 18-oxocortisol and 18-hydroxycortisol. Hypertension and aldosteronism are not reversed by administration of exogenous glucocorticoids and patients require adrenalectomy to control hypertension.
Mondo Term and Equivalent IDs
MONDO:0013359:  familial hyperaldosteronism type III
GARD:0012362: 
Orphanet:251274: 
SCTID:703234002: 
UMLS:C3150933: 
UMLS:C3838758: