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apparent mineralocorticoid excess

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


GARD Rare
Mondo Description Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism.
Uniprot Description An autosomal recessive form of low-renin hypertension. It is usually diagnosed within the first years of life and is characterized by polyuria and polydipsia, failure to thrive, hypernatremia, severe hypertension with low renin and aldosterone levels, profound hypokalemia with metabolic alkalosis, and most often nephrocalcinosis.
Mondo Term and Equivalent IDs
MONDO:0009025:  apparent mineralocorticoid excess
DOID:0090121: 
GARD:0000433: 
MESH:C537422: 
NCIT:C131083: 
Orphanet:320: 
SCTID:703256004: 
UMLS:C2936861: 
UMLS:C3887949: 
UMLS:CN203981: