← all disease traces
Liddle syndrome
SCNN1B / SCNN1GOMIM 177200do(sodium_water_reabsorption ↑)
gain-of-function of the epithelial Na channel (ENaC) in the distal nephron -> constitutive distal Na (and water) reabsorption, independent of aldosterone.
mean arterial pressure ↑HPO: HypertensionHP:0000822
comparative-statics (steady-state) net: ?
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 ↑
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 ↑ →(-) cardiac output ↓ =(identity +) mean arterial pressure ↓
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 ↓ →(-) total peripheral resistance ↑ =(identity +) mean arterial pressure ↑
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 ↑ →(-) integrated central + peripheral chemoreceptor drive to breathe ↓ →(+) baroreflex sympathetic outflow ↓ →(+) total peripheral resistance ↓ =(identity +) mean arterial pressure ↓
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 ↑ →(-) integrated central + peripheral chemoreceptor drive to breathe ↓ →(+) baroreflex sympathetic outflow ↓ →(+) cardiac output ↓ =(identity +) mean arterial pressure ↓
plasma potassium concentration ↓HPO: HypokalemiaHP:0002900
comparative-statics (steady-state) net: ?
renal tubular sodium and water reabsorption ↑ →(+) blood volume ↑ →(+) atrial natriuretic peptide concentration ↑ →(-) plasma renin activity ↓ →(+) plasma angiotensin II concentration ↓ →(+) plasma aldosterone concentration ↓ →(-) plasma potassium concentration ↑
renal tubular sodium and water reabsorption ↑ →(+) blood volume ↑ →(+) atrial natriuretic peptide concentration ↑ →(-) plasma renin activity ↓ →(+) plasma angiotensin II concentration ↓ →(+) plasma aldosterone concentration ↓ →(+) arterial blood pH ↓ →(+) net cellular (transcellular) potassium uptake rate ↓ →(-) plasma potassium 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 ↓
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 ↓
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 ↓ →(-) plasma potassium concentration ↑
plasma renin activity ↓HPO: Decreased circulating renin concentrationHP:0003351
comparative-statics (steady-state) net: ?
renal tubular sodium and water reabsorption ↑ →(+) blood volume ↑ →(+) atrial natriuretic peptide concentration ↑ →(-) plasma renin activity ↓
renal tubular sodium and water reabsorption ↑ →(+) blood volume ↑ →(+) atrial natriuretic peptide concentration ↑ →(-) total peripheral resistance ↓ →(+) left-ventricular afterload (systolic wall stress / aortic ejection load) ↓ →(-) left-ventricular stroke volume (SV = EDV - ESV) ↑ =(identity +) cardiac output ↑ =(identity +) mean arterial pressure ↑ →(-) baroreflex sympathetic outflow ↓ →(+) plasma renin activity ↓
renal tubular sodium and water reabsorption ↑ →(+) blood volume ↑ →(+) atrial natriuretic peptide concentration ↑ →(-) total peripheral resistance ↓ →(+) left-ventricular afterload (systolic wall stress / aortic ejection load) ↓ →(-) left-ventricular stroke volume (SV = EDV - ESV) ↑ =(identity +) cardiac output ↑ =(identity +) mean arterial pressure ↑ →(+) renal perfusion pressure ↑ →(-) plasma renin activity ↓
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 ↑ →(-) integrated central + peripheral chemoreceptor drive to breathe ↓ →(+) baroreflex sympathetic outflow ↓ →(+) plasma renin activity ↓
renal tubular sodium and water reabsorption ↑ →(+) blood volume ↑ →(+) atrial natriuretic peptide concentration ↑ →(-) total peripheral resistance ↓ →(+) left-ventricular afterload (systolic wall stress / aortic ejection load) ↓ →(-) left-ventricular stroke volume (SV = EDV - ESV) ↑ =(identity +) cardiac output ↑ =(identity +) mean arterial pressure ↑ →(+) arterial (carotid sinus + aortic arch) baroreceptor afferent firing rate ↑ →(-) baroreflex sympathetic outflow ↓ →(+) plasma renin activity ↓
plasma aldosterone concentration ↓HPO: Decreased circulating aldosterone concentrationHP:0004319
comparative-statics (steady-state) net: ?
renal tubular sodium and water reabsorption ↑ →(+) blood volume ↑ →(+) atrial natriuretic peptide concentration ↑ →(-) plasma renin activity ↓ →(+) plasma angiotensin II 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 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 osmolality ↑ →(+) water intake (drinking / thirst-driven ingestion) ↑ →(-) plasma sodium 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 ↑ →(+) total peripheral resistance ↑ =(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 ↑ →(+) net cellular (transcellular) potassium uptake rate ↑ →(-) plasma potassium concentration ↓ →(+) plasma aldosterone concentration ↓
↑ increased ↓ decreased ? magnitude-dependent (SCC). →(+) positive edge, →(−) negative, ▷ cross-scale constitutive lift. Endophenotypes are real HPO directional terms. Draft for domain review.