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Chondrodysplasia 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 moreHypercholesterolemia
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 moreHyper-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 moreMevalonic Aciduria
smpdb.ca/view/SMP0125643DiseaseMevalonic aciduria, also called MVA, is an extremely rare inherited inborn error of metabolism (IEM) and an autosomal recessive disorder caused by a defective mevalonate kinase gene. It is manifested by high levels of mevalonic acid in t...
Drugs: Cholecalciferol · ATP · Magnesium cation · Iron · Dimethylallyl Diphosphate · Formic acid +8 morebeta-Ureidopropionase Deficiency
smpdb.ca/view/SMP0125716DiseaseBeta-ureidopropionase deficiency (Beta Alanine-Synthase Deficiency, UPB1, BUP1) is an autosomal recessive disease caused by mutations in the UPB1 gene which codes for beta-ureidopropionase. A deficiency in this enzyme results in accumula...
UMP Synthase Deficiency (Orotic Aciduria)
smpdb.ca/view/SMP0125717DiseaseOrotic aciduria, also known as UMP synthase deficiency, is an autosomal recessive disorder of pyrimidine metabolism caused by a defective uridine monophosphate synthetase (UMPS). UMPS is a multifunctional protein which carries out the fu...
Pralatrexate Action Pathway
smpdb.ca/view/SMP0126296Drug actionPralatrexate is a folate analog, used for the treatment of peripheral T-cell lymphoma. Administered intravenously it acts to inhibit dihydrofolate reductase, specifically in cancer cells that have an overexpression of a transporter known...
Raltitrexed Action Pathway
smpdb.ca/view/SMP0126304Drug actionRaltitrexed is a folate analog that is used in the treatment of colorectal cancer, that is an inhibitor of thymidylate synthase. Inhibiting thymidylate synthase stops the proliferation of cancer cells, as it stops the production and form...
Solriamfetol Action Pathway
smpdb.ca/view/SMP0126346Drug actionSolriamfetol, also known as Sunosi, is a dopamine and norepinephrine reuptake inhibitor (DNRI). This drug is indicated for the daytime treatment of sleepiness associated with narcolepsy or obstructive sleep apnea. Solriamfetol was given ...
Cocaine Dopamine-reuptake Inhibitor Action Pathway
smpdb.ca/view/SMP0126543Drug actionCocaine is a local anesthesia and vasoconstrictor that is clinically used during diagnostic proceedures or during surgery in or through the nasal cavity. It comes in drugs called Goprelto and Numbrino which comes as a nasal spray. In the...