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Hypercholesterolemia
smpdb.ca/view/SMP0000209DiseaseHypercholesterolemia, also called elevated cholesterol, is an autosomal dominant disorder caused by a defective LDLR gene. The LDLR gene codes for a receptor that binds to low-density lipoprotein which are carriers of cholesterol in the ...
Drugs: Cholecalciferol · ATP · Magnesium cation · Iron · Dimethylallyl Diphosphate · Formic acid +8 moreEnzymes: Lysosomal acid lipase/cholesteryl ester hydrolaseCHILD Syndrome
smpdb.ca/view/SMP0125637DiseaseCHILD Syndrome, (Congenital Hemidysplasia with Icthyosiform Erythroderma and Limb Defects; Ichthyosiform Eruthroderma, Unilateral, with Epsilateral Malformations, Especially Absence Deformity of Limbs) is caused by a mutation in the gene...
Drugs: Cholecalciferol · ATP · Magnesium cation · Iron · Dimethylallyl Diphosphate · Formic acid +8 moreEnzymes: Lysosomal acid lipase/cholesteryl ester hydrolaseDesmosterolosis
smpdb.ca/view/SMP0125638DiseaseDesmosterolosis is caused by a mutation in the DHCR24 gene, which codes for the enzyme 24-dehydrocholesterol reductase, which catalyzes the reduction of the delta-24 double bond of sterol intermediates. A defect in 24-dehydrocholesterol ...
Drugs: Cholecalciferol · ATP · Magnesium cation · Iron · Dimethylallyl Diphosphate · Formic acid +8 moreEnzymes: Lysosomal acid lipase/cholesteryl ester hydrolaseChondrodysplasia Punctata II, X-Linked Dominant (CDPX2)
smpdb.ca/view/SMP0125639DiseaseChondrodysplasia Punctata 2, X Linked Dominant (CDPX2; CPDXD; CPXD; Conradi-Hunermann Syndrome; Happle Syndrome; Conradi-Hunermann-Happle Syndrome is caused by a mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-b...
Drugs: Cholecalciferol · ATP · Magnesium cation · Iron · Dimethylallyl Diphosphate · Formic acid +8 moreEnzymes: Lysosomal acid lipase/cholesteryl ester hydrolaseHypercholesterolemia
smpdb.ca/view/SMP0125641DiseaseHypercholesterolemia, also called elevated cholesterol, is an autosomal dominant disorder caused by a defective LDLR gene. The LDLR gene codes for a receptor that binds to low-density lipoprotein which are carriers of cholesterol in the ...
Drugs: Cholecalciferol · ATP · Magnesium cation · Iron · Dimethylallyl Diphosphate · Formic acid +8 moreEnzymes: Lysosomal acid lipase/cholesteryl ester hydrolaseHyper-IgD Syndrome
smpdb.ca/view/SMP0125642DiseaseHyperimmunoglobulinemia D syndrome, or HIDS, is a condition characterized by fevers that come and go, usually lasting 3-7 days, and other various symptoms such as rashes, vomiting, diarrhea and aphthous ulcers. These are usually noticed ...
Drugs: Cholecalciferol · ATP · Magnesium cation · Iron · Dimethylallyl Diphosphate · Formic acid +8 moreEnzymes: Lysosomal acid lipase/cholesteryl ester hydrolaseCodeine Opioid Action Pathway
smpdb.ca/view/SMP0122959Drug actionCodeine is an opioid agonist used for analgesia (pain-relief) and sedation similar to other opioid derivatives like morphine, methadone, fentanyl, hydrocodone and oxycodone. Codeine, like morphine is derived from the poppy plant, Papaver...
Enzymes: Gamma-aminobutyric acid type B receptor subunit 2, Gamma-aminobutyric acid receptor subunit alpha-1Chondrodysplasia Punctata II, X-Linked Dominant (CDPX2)
smpdb.ca/view/SMP0000388DiseaseChondrodysplasia Punctata 2, X Linked Dominant (CDPX2; CPDXD; CPXD; Conradi-Hunermann Syndrome; Happle Syndrome; Conradi-Hunermann-Happle Syndrome is caused by a mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-b...
Drugs: Cholecalciferol · ATP · Magnesium cation · Iron · Dimethylallyl Diphosphate · Formic acid +8 moreEnzymes: Lysosomal acid lipase/cholesteryl ester hydrolaseIbandronate Action Pathway
smpdb.ca/view/SMP0000079Drug actionThe action of ibandronate on bone tissue is based partly on its affinity for hydroxyapatite, which is part of the mineral matrix of bone. Nitrogen-containing bisphosphonates (such as pamidronate, alendronate, risedronate, ibandronate and...
Drugs: Cholecalciferol · ATP · Ibandronate · Magnesium cation · Iron · Dimethylallyl Diphosphate +9 moreEnzymes: Lysosomal acid lipase/cholesteryl ester hydrolasePamidronate Action Pathway
smpdb.ca/view/SMP0000117Drug actionIbandronate (also named ibandronate sodium) is a type of medication that used to treat numbers of bone diseases because of its affinity for hydroxyapatite. Ibandronate targets farnesyl pyrophosphate (FPP) synthase by inhibiting the funct...
Drugs: Cholecalciferol · ATP · Pamidronic acid · Magnesium cation · Iron · Dimethylallyl Diphosphate +9 moreEnzymes: Lysosomal acid lipase/cholesteryl ester hydrolase