PathWhiz

PathWhiz ID	Pathway	Meta Data
PW130052 View Pathway	metabolic Corn Drug Metabolism Homo sapiens BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Selena Created On: September 14, 2023 at 20:33 Last Updated: September 14, 2023 at 20:33
PW121897 View Pathway	disease Corticosterone Methyl Oxidase I Deficiency (CMO I) Mus musculus Corticosterone methyloxidase type I (CMO-I) deficiency, also known as 18-hydroxylase deficiency or aldosterone deficiency among other names, is a genetic disorder that is autosomally linked and caused by a defective CYP11B2 gene. This gene encodes the cytochrome P450 11B2 mitochondrial protein, also called aldosterone synthase, which is used to catalyze the conversion of 18-hydroxycorticosterone to aldosterone. This leads to a decrease in the amount of aldosterone present in the cells, which is responsible for an increased amount of salt excreted in the urine, known as salt wasting. In CMO-I deficiency, aldosterone levels are so low that they are undetectable in plasma. 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
PW127368 View Pathway	disease Corticosterone Methyl Oxidase I Deficiency (CMO I) Homo sapiens Corticosterone methyloxidase type I (CMO-I) deficiency, also known as 18-hydroxylase deficiency or aldosterone deficiency among other names, is a genetic disorder that is autosomally linked and caused by a defective CYP11B2 gene. This gene encodes the cytochrome P450 11B2 mitochondrial protein, also called aldosterone synthase, which is used to catalyze the conversion of 18-hydroxycorticosterone to aldosterone. This leads to a decrease in the amount of aldosterone present in the cells, which is responsible for an increased amount of salt excreted in the urine, known as salt wasting. In CMO-I deficiency, aldosterone levels are so low that they are undetectable in plasma. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ray Kruger Created On: December 19, 2022 at 14:00 Last Updated: December 19, 2022 at 14:00
PW122121 View Pathway	disease Corticosterone Methyl Oxidase I Deficiency (CMO I) Rattus norvegicus Corticosterone methyloxidase type I (CMO-I) deficiency, also known as 18-hydroxylase deficiency or aldosterone deficiency among other names, is a genetic disorder that is autosomally linked and caused by a defective CYP11B2 gene. This gene encodes the cytochrome P450 11B2 mitochondrial protein, also called aldosterone synthase, which is used to catalyze the conversion of 18-hydroxycorticosterone to aldosterone. This leads to a decrease in the amount of aldosterone present in the cells, which is responsible for an increased amount of salt excreted in the urine, known as salt wasting. In CMO-I deficiency, aldosterone levels are so low that they are undetectable in plasma. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ana Marcu Created On: September 10, 2018 at 15:52 Last Updated: September 10, 2018 at 15:52
PW000553 View Pathway	disease Corticosterone Methyl Oxidase I Deficiency (CMO I) Homo sapiens Corticosterone methyloxidase type I (CMO-I) deficiency, also known as 18-hydroxylase deficiency or aldosterone deficiency among other names, is a genetic disorder that is autosomally linked and caused by a defective CYP11B2 gene. This gene encodes the cytochrome P450 11B2 mitochondrial protein, also called aldosterone synthase, which is used to catalyze the conversion of 18-hydroxycorticosterone to aldosterone. This leads to a decrease in the amount of aldosterone present in the cells, which is responsible for an increased amount of salt excreted in the urine, known as salt wasting. In CMO-I deficiency, aldosterone levels are so low that they are undetectable in plasma. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: WishartLab Created On: August 29, 2013 at 10:39 Last Updated: August 29, 2013 at 10:39
PW000554 View Pathway	disease Corticosterone Methyl Oxidase II Deficiency (CMO II) Homo sapiens Corticosterone methyloxidase type II (CMO-II) deficiency, also called 18-oxidase defiency or aldosterone deficiency II among other names, is a genetic disorder that is autosomally linked. It is caused by a mutation in the cytochrome P450 11B2 gene, whose protein product is responsible for the formation of aldosterone from 18-hydroxycorticosterone (18-OHB), as well as converting progesterone to 11b-hydroxyprogesterone. The conversion of 18-OHB to aldosterone is the only reaction that uses 18-OHB, and due to the enzyme not being entirely functional, it builds up in the cell, while aldosterone levels will be lowered. However, since progesterone and 11b-hydroxyprogesterone are both produced and used by other reactions, their levels in the cell are not changed as drastically. Compared to the CMO-I deficiency, the CMO-II deficiency has less severe mutations in the gene, which cause it to have less severe changes in aldosterone and 18-OHB concentrations. The CMO-II deficiency, and its resulting aldosterone deficiency can cause a salt-wasting phenotype in children, due to aldosterone being responsible for the resorption of sodium in the body, as well as secretion of potassium. With levels of aldosterone being lower due to this deficiency, excess sodium is excreted in the urine, and higher than average levels of potassium in the serum. Aside salt-wasting and potential failure to thrive as an infant due to this, there are no symptoms, such as genital abnormalities, that are seen in similar salt-wasting disorders like CYP21 deficiency. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: WishartLab Created On: August 29, 2013 at 10:39 Last Updated: August 29, 2013 at 10:39
PW127370 View Pathway	disease Corticosterone Methyl Oxidase II Deficiency (CMO II) Homo sapiens Corticosterone methyloxidase type II (CMO-II) deficiency, also called 18-oxidase defiency or aldosterone deficiency II among other names, is a genetic disorder that is autosomally linked. It is caused by a mutation in the cytochrome P450 11B2 gene, whose protein product is responsible for the formation of aldosterone from 18-hydroxycorticosterone (18-OHB), as well as converting progesterone to 11b-hydroxyprogesterone. The conversion of 18-OHB to aldosterone is the only reaction that uses 18-OHB, and due to the enzyme not being entirely functional, it builds up in the cell, while aldosterone levels will be lowered. However, since progesterone and 11b-hydroxyprogesterone are both produced and used by other reactions, their levels in the cell are not changed as drastically. Compared to the CMO-I deficiency, the CMO-II deficiency has less severe mutations in the gene, which cause it to have less severe changes in aldosterone and 18-OHB concentrations. The CMO-II deficiency, and its resulting aldosterone deficiency can cause a salt-wasting phenotype in children, due to aldosterone being responsible for the resorption of sodium in the body, as well as secretion of potassium. With levels of aldosterone being lower due to this deficiency, excess sodium is excreted in the urine, and higher than average levels of potassium in the serum. Aside salt-wasting and potential failure to thrive as an infant due to this, there are no symptoms, such as genital abnormalities, that are seen in similar salt-wasting disorders like CYP21 deficiency. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ray Kruger Created On: December 19, 2022 at 14:41 Last Updated: December 19, 2022 at 14:41
PW121898 View Pathway	disease Corticosterone Methyl Oxidase II Deficiency (CMO II) Mus musculus Corticosterone methyloxidase type II (CMO-II) deficiency, also called 18-oxidase defiency or aldosterone deficiency II among other names, is a genetic disorder that is autosomally linked. It is caused by a mutation in the cytochrome P450 11B2 gene, whose protein product is responsible for the formation of aldosterone from 18-hydroxycorticosterone (18-OHB), as well as converting progesterone to 11b-hydroxyprogesterone. The conversion of 18-OHB to aldosterone is the only reaction that uses 18-OHB, and due to the enzyme not being entirely functional, it builds up in the cell, while aldosterone levels will be lowered. However, since progesterone and 11b-hydroxyprogesterone are both produced and used by other reactions, their levels in the cell are not changed as drastically. Compared to the CMO-I deficiency, the CMO-II deficiency has less severe mutations in the gene, which cause it to have less severe changes in aldosterone and 18-OHB concentrations. The CMO-II deficiency, and its resulting aldosterone deficiency can cause a salt-wasting phenotype in children, due to aldosterone being responsible for the resorption of sodium in the body, as well as secretion of potassium. With levels of aldosterone being lower due to this deficiency, excess sodium is excreted in the urine, and higher than average levels of potassium in the serum. Aside salt-wasting and potential failure to thrive as an infant due to this, there are no symptoms, such as genital abnormalities, that are seen in similar salt-wasting disorders like CYP21 deficiency. 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
PW122122 View Pathway	disease Corticosterone Methyl Oxidase II Deficiency (CMO II) Rattus norvegicus Corticosterone methyloxidase type II (CMO-II) deficiency, also called 18-oxidase defiency or aldosterone deficiency II among other names, is a genetic disorder that is autosomally linked. It is caused by a mutation in the cytochrome P450 11B2 gene, whose protein product is responsible for the formation of aldosterone from 18-hydroxycorticosterone (18-OHB), as well as converting progesterone to 11b-hydroxyprogesterone. The conversion of 18-OHB to aldosterone is the only reaction that uses 18-OHB, and due to the enzyme not being entirely functional, it builds up in the cell, while aldosterone levels will be lowered. However, since progesterone and 11b-hydroxyprogesterone are both produced and used by other reactions, their levels in the cell are not changed as drastically. Compared to the CMO-I deficiency, the CMO-II deficiency has less severe mutations in the gene, which cause it to have less severe changes in aldosterone and 18-OHB concentrations. The CMO-II deficiency, and its resulting aldosterone deficiency can cause a salt-wasting phenotype in children, due to aldosterone being responsible for the resorption of sodium in the body, as well as secretion of potassium. With levels of aldosterone being lower due to this deficiency, excess sodium is excreted in the urine, and higher than average levels of potassium in the serum. Aside salt-wasting and potential failure to thrive as an infant due to this, there are no symptoms, such as genital abnormalities, that are seen in similar salt-wasting disorders like CYP21 deficiency. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ana Marcu Created On: September 10, 2018 at 15:52 Last Updated: September 10, 2018 at 15:52
PW000442 View Pathway	protein Corticotropin Activation of Cortisol Production Homo sapiens Corticotropin, also known as ACTH or adrenocorticotropic hormone, is a peptide tropic hormone synthesized by the anterior pituitary gland in response to the release of corticotropin-releasing hormone (CRH) from the hypothalamus. It is produced from the cleavage of pre-pro-opiomelanocortin by various endopeptidases, along with other physiologically active peptide fragments such as β-lipotropin, γ-lipotropin, melanocyte-stimulating hormone (MSH), and β-endorphin. As an essential component of the hypothalamic-pituitary-adrenal axis, corticotropin is primarily responsible for increasing the adrenal cortex production of cortisol in response to stress. The ACTH receptor activates G(s) proteins which lead to the activation of adenylyl cyclase which produces the secondary messenger cAMP. cAMP activates pKA (protein kinase A) which phosphorylates downstream effectors that lead to androgen and cortisol production. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: WishartLab Created On: August 22, 2013 at 10:46 Last Updated: August 22, 2013 at 10:46