← all disease traces
X-linked hypophosphatemic rickets
PHEXOMIM 307800do(fgf23 ↑)
PHEX loss -> excess FGF23 -> renal phosphate wasting and suppressed calcitriol.
plasma phosphate concentration ↓HPO: HypophosphatemiaHP:0002148
comparative-statics (steady-state) net: ?
plasma fibroblast growth factor 23 (FGF23) concentration ↑ →(-) renal proximal-tubule phosphate reabsorption rate (NaPi-IIa/IIc) ↓ ↠(production +) plasma phosphate concentration ↓
plasma fibroblast growth factor 23 (FGF23) concentration ↑ →(-) plasma calcitriol (1,25-dihydroxyvitamin D3) concentration ↓ →(+) plasma (ionised) calcium concentration ↓ →(-) plasma parathyroid hormone concentration ↑ →(-) plasma phosphate concentration ↓
plasma fibroblast growth factor 23 (FGF23) concentration ↑ →(-) plasma calcitriol (1,25-dihydroxyvitamin D3) concentration ↓ →(+) plasma (ionised) calcium concentration ↓ →(-) plasma parathyroid hormone concentration ↑ →(-) renal proximal-tubule phosphate reabsorption rate (NaPi-IIa/IIc) ↓ ↠(production +) plasma phosphate concentration ↓
plasma fibroblast growth factor 23 (FGF23) concentration ↑ →(-) plasma calcitriol (1,25-dihydroxyvitamin D3) concentration ↓ →(+) plasma (ionised) calcium concentration ↓ →(-) plasma parathyroid hormone concentration ↑ →(+) osteoclast bone-resorption activity ↑ →(+) plasma phosphate concentration ↑
plasma fibroblast growth factor 23 (FGF23) concentration ↑ →(-) plasma calcitriol (1,25-dihydroxyvitamin D3) concentration ↓ →(+) plasma (ionised) calcium concentration ↓ →(-) parathyroid chief-cell parathyroid-hormone secretion rate ↑ ↠(production +) plasma parathyroid hormone concentration ↑ →(-) plasma phosphate concentration ↓
plasma calcitriol (1,25-dihydroxyvitamin D3) concentration ↓HPO: Low serum calcitriolHP:0012052
comparative-statics (steady-state) net: ?
plasma fibroblast growth factor 23 (FGF23) concentration ↑ →(-) plasma calcitriol (1,25-dihydroxyvitamin D3) concentration ↓
plasma fibroblast growth factor 23 (FGF23) concentration ↑ →(-) renal proximal-tubule-cell calcitriol (1-alpha-hydroxylase) production rate ↓ ↠(production +) plasma calcitriol (1,25-dihydroxyvitamin D3) concentration ↓
plasma fibroblast growth factor 23 (FGF23) concentration ↑ →(-) renal proximal-tubule phosphate reabsorption rate (NaPi-IIa/IIc) ↓ ↠(production +) plasma phosphate concentration ↓ →(-) plasma calcitriol (1,25-dihydroxyvitamin D3) concentration ↑
plasma fibroblast growth factor 23 (FGF23) concentration ↑ →(-) parathyroid chief-cell parathyroid-hormone secretion rate ↓ ↠(production +) plasma parathyroid hormone concentration ↓ →(+) plasma calcitriol (1,25-dihydroxyvitamin D3) concentration ↓
plasma fibroblast growth factor 23 (FGF23) concentration ↑ →(-) renal proximal-tubule phosphate reabsorption rate (NaPi-IIa/IIc) ↓ ↠(production +) plasma phosphate concentration ↓ →(+) plasma parathyroid hormone concentration ↓ →(+) plasma calcitriol (1,25-dihydroxyvitamin D3) concentration ↓
↑ increased ↓ decreased ? magnitude-dependent (SCC). →(+) positive edge, →(−) negative, ▷ cross-scale constitutive lift. Endophenotypes are real HPO directional terms. Draft for domain review.