Disease ID | Source | Name | Description |
177735 | OMIM | Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) | A salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. PHA1A is a mild form characterized by target organ defects confined to kidney. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without treatment. The disease is caused by variants affecting the gene represented in this entry. |
605115 | OMIM | Early-onset hypertension with severe exacerbation in pregnancy (EOHSEP) | Inheritance is autosomal dominant. The disease is characterized by the onset of severe hypertension before the age of 20, and by suppression of aldosterone secretion. The disease is caused by variants affecting the gene represented in this entry. |