Disease ID | Source | Name | Description |
218030 | OMIM | Apparent mineralocorticoid excess (AME) | 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. The disease is caused by variants affecting the gene represented in this entry. |