← all disease traces
Glucocorticoid-remediable aldosteronism (FH type I)
CYP11B1/CYP11B2 chimeraOMIM 103900do(aldosterone ↑)
ACTH-driven ectopic aldosterone synthase expression -> primary aldosterone excess.
mean arterial pressure ↑HPO: HypertensionHP:0000822
comparative-statics (steady-state) net: ?
plasma aldosterone concentration ↑ →(+) renal tubular sodium and water reabsorption ↑ →(+) blood volume ↑ →(+) atrial natriuretic peptide concentration ↑ →(-) plasma renin activity ↓ →(+) plasma angiotensin II concentration ↓ →(+) antidiuretic hormone (vasopressin) concentration ↓ →(+) total peripheral resistance ↓ =(identity +) mean arterial pressure ↓
plasma aldosterone concentration ↑ →(+) renal tubular sodium and water reabsorption ↑ →(+) blood volume ↑ →(+) atrial natriuretic peptide concentration ↑ →(-) plasma renin activity ↓ →(+) plasma angiotensin II concentration ↓ →(+) total peripheral resistance ↓ →(-) cardiac output ↑ =(identity +) mean arterial pressure ↑
plasma aldosterone concentration ↑ →(+) renal tubular sodium and water reabsorption ↑ →(+) blood volume ↑ →(+) atrial natriuretic peptide concentration ↑ →(-) plasma renin activity ↓ →(+) plasma angiotensin II concentration ↓ →(+) antidiuretic hormone (vasopressin) concentration ↓ →(+) total peripheral resistance ↓ →(-) cardiac output ↑ =(identity +) mean arterial pressure ↑
plasma aldosterone concentration ↑ →(+) renal tubular sodium and water reabsorption ↑ →(+) blood volume ↑ →(+) atrial natriuretic peptide concentration ↑ →(+) urinary sodium and water excretion (pressure natriuresis) ↑ →(-) extracellular fluid volume ↓ →(-) renal tubular hydrogen ion secretion / bicarbonate reabsorption rate (organ) ↑ →(+) plasma bicarbonate concentration ↑ =(identity +) arterial blood pH ↑ →(+) total peripheral resistance ↑ =(identity +) mean arterial pressure ↑
plasma aldosterone concentration ↑ →(+) renal tubular sodium and water reabsorption ↑ →(+) blood volume ↑ →(+) atrial natriuretic peptide concentration ↑ →(-) plasma renin activity ↓ →(+) plasma angiotensin II concentration ↓ →(+) antidiuretic hormone (vasopressin) concentration ↓ →(-) plasma osmolality ↑ →(+) plasma potassium concentration ↑ →(-) total peripheral resistance ↓ =(identity +) mean arterial pressure ↓
plasma potassium concentration ↓HPO: HypokalemiaHP:0002900
comparative-statics (steady-state) net: ?
plasma aldosterone concentration ↑ →(+) renal tubular sodium and water reabsorption ↑ →(+) blood volume ↑ →(+) atrial natriuretic peptide concentration ↑ →(-) plasma renin activity ↓ →(+) plasma angiotensin II concentration ↓ →(+) antidiuretic hormone (vasopressin) concentration ↓ →(-) plasma osmolality ↑ →(+) plasma potassium concentration ↑
plasma aldosterone concentration ↑ →(+) renal tubular sodium and water reabsorption ↑ →(+) blood volume ↑ →(+) atrial natriuretic peptide concentration ↑ →(-) plasma renin activity ↓ →(+) plasma angiotensin II concentration ↓ →(+) antidiuretic hormone (vasopressin) concentration ↓ →(-) plasma sodium concentration ↑ →(+) plasma osmolality ↑ →(+) plasma potassium concentration ↑
plasma aldosterone concentration ↑ →(+) renal tubular sodium and water reabsorption ↑ →(+) blood volume ↑ →(+) atrial natriuretic peptide concentration ↑ →(+) urinary sodium and water excretion (pressure natriuresis) ↑ →(-) extracellular fluid volume ↓ →(-) renal tubular hydrogen ion secretion / bicarbonate reabsorption rate (organ) ↑ →(+) plasma bicarbonate concentration ↑ =(identity +) arterial blood pH ↑ →(+) net cellular (transcellular) potassium uptake rate ↑ →(-) plasma potassium concentration ↓
plasma aldosterone concentration ↑ →(+) renal tubular sodium and water reabsorption ↑ →(+) blood volume ↑ →(+) atrial natriuretic peptide concentration ↑ →(+) urinary sodium and water excretion (pressure natriuresis) ↑ →(-) extracellular fluid volume ↓ →(-) renal tubular hydrogen ion secretion / bicarbonate reabsorption rate (organ) ↑ →(+) plasma bicarbonate concentration ↑ =(identity +) arterial blood pH ↑ →(+) renal (distal nephron) potassium excretion rate ↑ →(-) plasma potassium concentration ↓
plasma aldosterone concentration ↑ →(+) renal tubular sodium and water reabsorption ↑ →(+) blood volume ↑ →(+) atrial natriuretic peptide concentration ↑ →(-) plasma renin activity ↓ →(+) plasma angiotensin II concentration ↓ →(+) total peripheral resistance ↓ =(identity +) mean arterial pressure ↓ →(-) antidiuretic hormone (vasopressin) concentration ↑ →(-) plasma osmolality ↓ →(+) plasma potassium concentration ↓
plasma renin activity ↓HPO: Decreased circulating renin concentrationHP:0003351
comparative-statics (steady-state) net: ?
plasma aldosterone concentration ↑ →(+) renal tubular sodium and water reabsorption ↑ →(+) blood volume ↑ →(+) atrial natriuretic peptide concentration ↑ →(-) plasma renin activity ↓
plasma aldosterone concentration ↑ →(+) renal tubular sodium and water reabsorption ↑ →(+) blood volume ↑ →(+) atrial natriuretic peptide concentration ↑ →(-) total peripheral resistance ↓ =(identity +) mean arterial pressure ↓ →(-) baroreflex sympathetic outflow ↑ →(+) plasma renin activity ↑
plasma aldosterone concentration ↑ →(+) renal tubular sodium and water reabsorption ↑ →(+) blood volume ↑ →(+) atrial natriuretic peptide concentration ↑ →(-) total peripheral resistance ↓ =(identity +) mean arterial pressure ↓ →(+) renal perfusion pressure ↓ →(-) plasma renin activity ↑
plasma aldosterone concentration ↑ →(+) renal tubular sodium and water reabsorption ↑ →(+) blood volume ↑ →(+) atrial natriuretic peptide concentration ↑ →(-) total peripheral resistance ↓ →(-) cardiac output ↑ =(identity +) mean arterial pressure ↑ →(-) baroreflex sympathetic outflow ↓ →(+) plasma renin activity ↓
plasma aldosterone concentration ↑ →(+) renal tubular sodium and water reabsorption ↑ →(+) blood volume ↑ →(+) atrial natriuretic peptide concentration ↑ →(-) total peripheral resistance ↓ →(-) cardiac output ↑ =(identity +) mean arterial pressure ↑ →(+) renal perfusion pressure ↑ →(-) plasma renin activity ↓
↑ increased ↓ decreased ? magnitude-dependent (SCC). →(+) positive edge, →(−) negative, ▷ cross-scale constitutive lift. Endophenotypes are real HPO directional terms. Draft for domain review.