PathWhiz

PathWhiz ID	Pathway	Meta Data
PW000488 View Pathway	disease Xanthinuria Type I Homo sapiens Xanthinuria Type I is a condition caused by an autosomal recessive mutation. The condition was discovered (though not diagnosed) in 1817, when stones formed of almost pure xanthine were first identified by Marcet. The symptoms arise because of a malfunction in the production of xanthine oxidase. It is a rare . It is characterized by a loss of oxidase such as in serum and the uric acid found in peepee. As a result, the opposite is true for the presence of xanthine and hypoxanthine. They will be found in the latter and former in increased quantities. Although the condition can cause a wide range of symptoms including renal xanthine stones, what occurs most of the time is that xanthinuria is asymptomatic and diagnosis is product of chance. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: WishartLab Created On: August 29, 2013 at 10:38 Last Updated: August 29, 2013 at 10:38
PW145972 View Pathway	drug action Xanthinol Drug Metabolism Action Pathway Homo sapiens BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ray Kruger Created On: October 07, 2023 at 17:06 Last Updated: October 07, 2023 at 17:06
PW000080 View Pathway	disease Xanthine Dehydrogenase Deficiency (Xanthinuria) Homo sapiens The rare genetic disorder, Xanthinuria (also referred to as xanthine oxidase deficiency) results from a deficiency of the enzyme xanthine oxidase. This enzyme deficiency causes the accumulation of: xanthine in the plasma, uric acid in serum or hypoxanthine, uric acid and xanthine in the urine. The disorder has symptoms including arthralgia, hematuria, mental retardation, stomatisis, and urolithiasis. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: WishartLab Created On: August 01, 2013 at 15:52 Last Updated: August 01, 2013 at 15:52
PW121976 View Pathway	disease Xanthine Dehydrogenase Deficiency (Xanthinuria) Rattus norvegicus The rare genetic disorder, Xanthinuria (also referred to as xanthine oxidase deficiency) results from a deficiency of the enzyme xanthine oxidase. This enzyme deficiency causes the accumulation of: xanthine in the plasma, uric acid in serum or hypoxanthine, uric acid and xanthine in the urine. The disorder has symptoms including arthralgia, hematuria, mental retardation, stomatisis, and urolithiasis. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ana Marcu Created On: September 10, 2018 at 15:51 Last Updated: September 10, 2018 at 15:51
PW121751 View Pathway	disease Xanthine Dehydrogenase Deficiency (Xanthinuria) Mus musculus The rare genetic disorder, Xanthinuria (also referred to as xanthine oxidase deficiency) results from a deficiency of the enzyme xanthine oxidase. This enzyme deficiency causes the accumulation of: xanthine in the plasma, uric acid in serum or hypoxanthine, uric acid and xanthine in the urine. The disorder has symptoms including arthralgia, hematuria, mental retardation, stomatisis, and urolithiasis. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ana Marcu Created On: September 10, 2018 at 15:49 Last Updated: September 10, 2018 at 15:49
PW146320 View Pathway	drug action Xanthan gum Drug Metabolism Action Pathway Homo sapiens BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ray Kruger Created On: October 07, 2023 at 17:56 Last Updated: October 07, 2023 at 17:56
PW146677 View Pathway	drug action Xamoterol Drug Metabolism Action Pathway Homo sapiens BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ray Kruger Created On: October 07, 2023 at 18:46 Last Updated: October 07, 2023 at 18:46
PW121832 View Pathway	disease Wolman Disease Mus musculus In Wolman's disease excessive amounts of cholesterol ester in the liver are present mainly in the macrophages of the reticuloendo- thelial system. The livler in Wiolman's disease contains triglyceride at 10 to 20 times the normal concentratlon, most of whilch is present in hepatocytes. The first case of Wolman's disease was published in 1956 by M. Wolman, M.D., reporting a case of a 2 month old girl who had been admitted to the Hadassah University Hospital. Lysosomal acid lipase/acid cholesteryl ester hydrolase (LAL/ACEH) plays an important role in cellular processing of plasma lipoproteins and thus contributes to both the homeostatic control of plasma lipoprotein levels and the prevention of cellular lipid overload. Wolman's Disease results from severely reduced levels of the enzyme lysosomal acid lipase/acid cholesteryl ester hydrolase. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ana Marcu Created On: September 10, 2018 at 15:50 Last Updated: September 10, 2018 at 15:50
PW122056 View Pathway	disease Wolman Disease Rattus norvegicus In Wolman's disease excessive amounts of cholesterol ester in the liver are present mainly in the macrophages of the reticuloendo- thelial system. The livler in Wiolman's disease contains triglyceride at 10 to 20 times the normal concentratlon, most of whilch is present in hepatocytes. The first case of Wolman's disease was published in 1956 by M. Wolman, M.D., reporting a case of a 2 month old girl who had been admitted to the Hadassah University Hospital. Lysosomal acid lipase/acid cholesteryl ester hydrolase (LAL/ACEH) plays an important role in cellular processing of plasma lipoproteins and thus contributes to both the homeostatic control of plasma lipoprotein levels and the prevention of cellular lipid overload. Wolman's Disease results from severely reduced levels of the enzyme lysosomal acid lipase/acid cholesteryl ester hydrolase. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ana Marcu Created On: September 10, 2018 at 15:51 Last Updated: September 10, 2018 at 15:51
PW000487 View Pathway	disease Wolman Disease Homo sapiens In Wolman's disease excessive amounts of cholesterol ester in the liver are present mainly in the macrophages of the reticuloendo- thelial system. The livler in Wiolman's disease contains triglyceride at 10 to 20 times the normal concentratlon, most of whilch is present in hepatocytes. The first case of Wolman's disease was published in 1956 by M. Wolman, M.D., reporting a case of a 2 month old girl who had been admitted to the Hadassah University Hospital. Lysosomal acid lipase/acid cholesteryl ester hydrolase (LAL/ACEH) plays an important role in cellular processing of plasma lipoproteins and thus contributes to both the homeostatic control of plasma lipoprotein levels and the prevention of cellular lipid overload. Wolman's Disease results from severely reduced levels of the enzyme lysosomal acid lipase/acid cholesteryl ester hydrolase. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: WishartLab Created On: August 29, 2013 at 10:38 Last Updated: August 29, 2013 at 10:38