Disease ID | Source | Name | Description |
618114 | OMIM | Liddle syndrome 2 (LIDLS2) | A form of Liddle syndrome, an autosomal dominant disorder characterized by early onset of hypertension, hypokalemic alkalosis, and suppression of plasma renin activity and aldosterone secretion. The disease is caused by variants affecting the gene represented in this entry. |
613071 | OMIM | Bronchiectasis with or without elevated sweat chloride 3 (BESC3) | A debilitating respiratory disease characterized by chronic, abnormal dilatation of the bronchi and other cystic fibrosis-like symptoms in the absence of known causes of bronchiectasis (cystic fibrosis, autoimmune diseases, ciliary dyskinesia, common variable immunodeficiency, foreign body obstruction). Clinical features include sub-normal lung function, sinopulmonary infections, chronic productive cough, excessive sputum production, and elevated sweat chloride in some cases. The disease is caused by variants affecting the gene represented in this entry. |