← all disease traces
Hereditary xanthinuria
XDHOMIM 278300do(xanthine_oxidase_activity ↓)
loss of xanthine oxidase -> xanthine accumulates, urate falls.
plasma urate (uric acid) concentration ↓HPO: HypouricemiaHP:0003537
comparative-statics (steady-state) net: ↓
xanthine oxidoreductase (XDH/XO) catalytic activity ↓ →(+) hepatic net urate (uric acid) production rate ↓ →(+) plasma urate (uric acid) concentration ↓
plasma xanthine (and hypoxanthine) concentration ↑HPO: HyperxanthinemiaHP:0010933
comparative-statics (steady-state) net: ↑
xanthine oxidoreductase (XDH/XO) catalytic activity ↓ →(-) plasma xanthine (and hypoxanthine) concentration ↑
↑ increased ↓ decreased ? magnitude-dependent (SCC). →(+) positive edge, →(−) negative, ▷ cross-scale constitutive lift. Endophenotypes are real HPO directional terms. Draft for domain review.