← all disease traces
Classic homocystinuria
CBSOMIM 236200do(cbs_enzyme_activity ↓)
loss of cystathionine beta-synthase -> homocysteine accumulates and is remethylated to methionine.
plasma homocysteine concentration ↑HPO: HyperhomocystinemiaHP:0002160
comparative-statics (steady-state) net: ↑
cystathionine beta-synthase (CBS) catalytic activity ↓ →(-) plasma homocysteine concentration ↑
plasma methionine concentration ↑HPO: HypermethioninemiaHP:0003235
comparative-statics (steady-state) net: ↑
cystathionine beta-synthase (CBS) catalytic activity ↓ →(-) plasma homocysteine concentration ↑ →(+) plasma methionine concentration ↑
↑ increased ↓ decreased ? magnitude-dependent (SCC). →(+) positive edge, →(−) negative, ▷ cross-scale constitutive lift. Endophenotypes are real HPO directional terms. Draft for domain review.