← all disease traces
Crigler-Najjar / Gilbert (UGT1A1)
UGT1A1OMIM 143500do(ugt1a1_activity ↓)
loss of bilirubin UDP-glucuronosyltransferase -> impaired conjugation.
plasma unconjugated (indirect) bilirubin concentration ↑HPO: Unconjugated hyperbilirubinemiaHP:0008282
comparative-statics (steady-state) net: ↑
UGT1A1 (bilirubin UDP-glucuronosyltransferase) activity ↓ →(+) hepatic bilirubin conjugation (glucuronidation) rate ↓ →(-) plasma unconjugated (indirect) bilirubin concentration ↑
plasma conjugated (direct) bilirubin concentration ↓
comparative-statics (steady-state) net: ↓
UGT1A1 (bilirubin UDP-glucuronosyltransferase) activity ↓ →(+) hepatic bilirubin conjugation (glucuronidation) rate ↓ →(+) plasma conjugated (direct) bilirubin concentration ↓
↑ increased ↓ decreased ? magnitude-dependent (SCC). →(+) positive edge, →(−) negative, ▷ cross-scale constitutive lift. Endophenotypes are real HPO directional terms. Draft for domain review.