| umls-concept:C0221043 | skos:definition | MSH: Familial pseudoaldosteronism characterized by autosomal dominant inheritance of hypertension with HYPOKALEMIA; ALKALOSIS; RENIN and ALDOSTERONE level decreases. It is caused by mutations in EPITHELIAL SODIUM CHANNELS beta and gamma subunits. Different mutations in the same EPITHELIAL SODIUM CHANNELS subunits can cause PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT.,NCI: An autosomal dominant inherited syndrome caused by dysregulation of the amiloride-sensitive sodium channel. It is characterized by early onset hypertension, hypokalemia, metabolic alkalosis, low plasma renin and hypoaldosteronism. | lld:umls |
