← all disease traces
Wilson disease
ATP7BOMIM 277900do(atp7b_activity ↓)
loss of ATP7B -> impaired hepatic copper excretion and ceruloplasmin loading.
plasma ceruloplasmin (holo-ceruloplasmin) concentration ↓HPO: Decreased circulating ceruloplasmin concentrationHP:0010837
comparative-statics (steady-state) net: ?
hepatocyte ATP7B copper-transporting ATPase activity ↓ →(+) plasma ceruloplasmin (holo-ceruloplasmin) concentration ↓
hepatocyte ATP7B copper-transporting ATPase activity ↓ →(+) hepatobiliary copper excretion rate ↓ →(?) plasma (predominantly ceruloplasmin-bound) copper concentration ? →(+) plasma ceruloplasmin (holo-ceruloplasmin) concentration ?
↑ increased ↓ decreased ? magnitude-dependent (SCC). →(+) positive edge, →(−) negative, ▷ cross-scale constitutive lift. Endophenotypes are real HPO directional terms. Draft for domain review.