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Cystinuria
smpdb.ca/view/SMP0000723DiseaseCystinuria is a genetic condition caused by mutations in the SLC7A9 or SLC3A1 gene. These two genes are responsible for creating subunits of a protein that reabsorbs cystine into the blood, located in the kidneys. The mutations cause thi...
Enzymes: Chloride channel protein ClC-Ka, Sodium- and chloride-dependent transporter XTRP3Torsemide Action Pathway
smpdb.ca/view/SMP0000118Drug actionTorsemide, also known as torasemide is a pharmacologically-active small molecule that belongs to the drug class of loop diuretics. It is commonly used to manage hypertension and edema in cases of congestive heart failure as it acts as a ...
Enzymes: Chloride channel protein ClC-Ka, Sodium- and chloride-dependent transporter XTRP3Iminoglycinuria
smpdb.ca/view/SMP0000193DiseaseIminoglycinuria, also called familial iminoglycinuria, is an autosomal recessive disorder of renal reabsorption caused primarily by a defective SLC36A2 gene. SLC36A2 codes for a proton-coupled amino acid transporter which facilitates the...
Enzymes: Chloride channel protein ClC-Ka, Sodium- and chloride-dependent transporter XTRP3Blue Diaper Syndrome
smpdb.ca/view/SMP0000583DiseaseBlue diaper syndrome is a recessive metabolic disorder that has not yet been determined to be X-linked or autosomal. This syndrome is caused by a mutation in the large neutral amino acids transporter small subunit 1 protein, which allows...
Enzymes: Chloride channel protein ClC-Ka, Sodium- and chloride-dependent transporter XTRP3Lysinuric Protein Intolerance (LPI)
smpdb.ca/view/SMP0000585DiseaseLysinuric protein intolerance (LPI), also called hyperdibasic aminoaciduria, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of the kidney function pathway. It is caused by a mutation in the SLC7A7 gene which ...
Enzymes: Chloride channel protein ClC-Ka, Sodium- and chloride-dependent transporter XTRP3Glucose Transporter Defect (SGLT2)
smpdb.ca/view/SMP0000184DiseaseSGLT2 is a sodium/glucose co-transporter that exists almost exclusively in kidney tissue. It is responsible for approximately 90% of the kidney's reabsorption of glucose, and can be found in the S1 segment of the proximal convoluted tubu...
Enzymes: Chloride channel protein ClC-Ka, Sodium- and chloride-dependent transporter XTRP3Hartnup Disorder
smpdb.ca/view/SMP0000189DiseaseHartunup Disorder (HND, Hartnup Disease) is an autosomal recessive disease caused by a mutation in the SLC6A19 which codes for sodium-dependent neutral amino acid transporter B(0). A deficiency in this enzyme results in accumulation of L...
Enzymes: Chloride channel protein ClC-Ka, Sodium- and chloride-dependent transporter XTRP3Lysinuric Protein Intolerance
smpdb.ca/view/SMP0000197DiseaseLysinuric protein intolerance (Hyperdibasic aminoaciduria II; Dibasic aminoaciduria II; Hyperdibasic aminoaciduria II; LPI), also called hyperdibasic aminoaciduria type 2 or familial protein intolerance, is an autosomal recessive metabol...
Enzymes: Chloride channel protein ClC-Ka, Sodium- and chloride-dependent transporter XTRP3Glucose Transporter Defect (SGLT2)
smpdb.ca/view/SMP0000245DiseaseThe major reabsorptive mechanism for D-glucose in the kidney is known to involve a lower affinity, high capacity Na()/glucose cotransporter, which is located in the early proximal convoluted tubule segment S1 and has a Na()-to-glucose co...
Enzymes: Chloride channel protein ClC-Ka, Sodium- and chloride-dependent transporter XTRP3Clorazepic acid
go.drugbank.com/drugs/DB00628ApprovedIllicitClorazepic acid (clorazepate) is a water-soluble benzodiazepine with muscle-relaxant and anticonvulsant actions effective in the treatment of anxiety. Following administration, clorazepate is rapidly converted to nordiazepam (N-desmethyl...
Categories: potassium clorazepate