← all disease traces
Hereditary hemochromatosis (HFE-related)
HFEOMIM 235200do(hepcidin ↓)
loss-of-function of HFE -> inappropriately low hepcidin -> unrestrained ferroportin iron efflux -> iron overload.
plasma (transferrin-bound) iron concentration ↑HPO: Increased circulating iron concentrationHP:0003452
comparative-statics (steady-state) net: ↑
plasma hepcidin (HAMP) ↓ →(-) ferroportin (SLC40A1) iron-export activity ↑ →(+) plasma (transferrin-bound) iron concentration ↑
transferrin saturation (TSAT) ↑HPO: Elevated transferrin saturationHP:0012463
comparative-statics (steady-state) net: ↑
plasma hepcidin (HAMP) ↓ →(-) ferroportin (SLC40A1) iron-export activity ↑ →(+) plasma (transferrin-bound) iron concentration ↑ →(+) transferrin saturation (TSAT) ↑
tissue (hepatic/macrophage) ferritin iron stores ↑HPO: Increased circulating ferritin concentrationHP:0003281
comparative-statics (steady-state) net: ?
plasma hepcidin (HAMP) ↓ →(+) tissue (hepatic/macrophage) ferritin iron stores ↓
plasma hepcidin (HAMP) ↓ →(-) ferroportin (SLC40A1) iron-export activity ↑ →(+) plasma (transferrin-bound) iron concentration ↑ →(+) tissue (hepatic/macrophage) ferritin iron stores ↑
↑ increased ↓ decreased ? magnitude-dependent (SCC). →(+) positive edge, →(−) negative, ▷ cross-scale constitutive lift. Endophenotypes are real HPO directional terms. Draft for domain review.