PathWhiz ID | Pathway | Meta Data |
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PW122057View Pathway |
disease
Xanthinuria Type IRattus norvegicus
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.
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Creator: Ana Marcu Created On: September 10, 2018 at 15:51 Last Updated: September 10, 2018 at 15:51 |
PW121833View Pathway |
disease
Xanthinuria Type IMus musculus
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.
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Creator: Ana Marcu Created On: September 10, 2018 at 15:50 Last Updated: September 10, 2018 at 15:50 |
PW000488View Pathway |
disease
Xanthinuria Type IHomo 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.
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Creator: WishartLab Created On: August 29, 2013 at 10:38 Last Updated: August 29, 2013 at 10:38 |
PW127294View Pathway |
disease
Xanthinuria Type IHomo sapiens
Xanthinuria Type I (Xanthine Dehydrogenase Deficiency) 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 the urine. This enzyme deficiency causes the accumulation of xanthine in the plasma, hypoxanthine in the serum, and xanthine in the urine. 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. The disorder has symptoms including arthralgia, hematuria, mental retardation, stomatisis, and urolithiasis.
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Creator: Ray Kruger Created On: December 02, 2022 at 11:16 Last Updated: December 02, 2022 at 11:16 |
PW000489View Pathway |
disease
Xanthinuria Type IIHomo sapiens
Xanthinuria Type II is a rare inborn error of metabolism (IEM) and autosomal recessive disorder and caused by a defective xanthine dehydrogenase. Xanthine dehydrogenase catalyzes the conversion of hypoxanthine into xanthine and conversion of xanthine into uric acid. This disorder is characterized by a large accumulation of xanthine and hypoxanthine; as well as dissipation of uric acid. Symptoms of the disorder include blood in the urine, recurrent urinary tract infections and abdominal pain. It is estimated that xanthinuria types I and II affects 1 in 69,000 individuals.
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Creator: WishartLab Created On: August 29, 2013 at 10:39 Last Updated: August 29, 2013 at 10:39 |
PW122058View Pathway |
disease
Xanthinuria Type IIRattus norvegicus
Xanthinuria Type II is a rare inborn error of metabolism (IEM) and autosomal recessive disorder and caused by a defective xanthine dehydrogenase. Xanthine dehydrogenase catalyzes the conversion of hypoxanthine into xanthine and conversion of xanthine into uric acid. This disorder is characterized by a large accumulation of xanthine and hypoxanthine; as well as dissipation of uric acid. Symptoms of the disorder include blood in the urine, recurrent urinary tract infections and abdominal pain. It is estimated that xanthinuria types I and II affects 1 in 69,000 individuals.
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Creator: Ana Marcu Created On: September 10, 2018 at 15:51 Last Updated: September 10, 2018 at 15:51 |
PW121834View Pathway |
disease
Xanthinuria Type IIMus musculus
Xanthinuria Type II is a rare inborn error of metabolism (IEM) and autosomal recessive disorder and caused by a defective xanthine dehydrogenase. Xanthine dehydrogenase catalyzes the conversion of hypoxanthine into xanthine and conversion of xanthine into uric acid. This disorder is characterized by a large accumulation of xanthine and hypoxanthine; as well as dissipation of uric acid. Symptoms of the disorder include blood in the urine, recurrent urinary tract infections and abdominal pain. It is estimated that xanthinuria types I and II affects 1 in 69,000 individuals.
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Creator: Ana Marcu Created On: September 10, 2018 at 15:50 Last Updated: September 10, 2018 at 15:50 |
PW127298View Pathway |
disease
Xanthinuria Type IIHomo sapiens
Xanthinuria Type II (Xanthine Dehydrogenase Deficiency) is a rare inborn error of metabolism (IEM) and autosomal recessive disorder and caused by a defective xanthine dehydrogenase. Xanthine dehydrogenase catalyzes the conversion of hypoxanthine into xanthine and conversion of xanthine into uric acid. This disorder is characterized by a large accumulation of xanthine and hypoxanthine; as well as dissipation of uric acid. Symptoms of the disorder include blood in the urine, recurrent urinary tract infections and abdominal pain. It is estimated that xanthinuria types I and II affects 1 in 69,000 individuals.
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Creator: Ray Kruger Created On: December 03, 2022 at 22:33 Last Updated: December 03, 2022 at 22:33 |
PW012896View Pathway |
Xanthophyll CycleArabidopsis thaliana
Xanthophyll cycle is a pathway that transforms zeaxanthin to violaxanthin and antheraxanthin through enzymes. Xanthophyll cycle mainly takes place in diatoms and dinoflagellates of plants in high-light condition. Zeaxanthin is obatined from zeaxanthin biosynthesis that transforms lycopene to zeaxanthin (indirectly). Zeaxanthin is catalyzed into antheraxanthin and antheraxanthin catalyzed into violaxanthin both by the enzyme, zeaxanthin epoxidase with cofactor FAD. Violaxanthin deepoxidase/antheraxanthin deepoxidase can reverse the above reactions (i.e. violaxanthin to antheraxanthin and antheraxanthin to zeaxanthin).
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Creator: Carin Li Created On: February 23, 2017 at 01:47 Last Updated: February 23, 2017 at 01:47 |
PW012937View Pathway |
xcaazzzHomo sapiens
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Creator: Guest: Anonymous Created On: March 13, 2017 at 04:17 Last Updated: March 13, 2017 at 04:17 |