Pathways

PathWhiz ID Pathway Meta Data

PW000542

Pw000542 View Pathway
disease

17-alpha-Hydroxylase Deficiency (CYP17)

Homo sapiens
17-alpha-hydroxylase deficiency, also known as congenital adrenal hyperplasia (CAH) due to 17-alpha-hydroxylase deficiency or congenital adrenal hyperplasia type 5, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of the steroidogenesis pathway. It is caused by a mutation in the CYP17A1 gene which encodes the enzyme steroid 17-alpha-hydroxylase. This enzyme hydroxylates both progesterone and pregnenolone into 17-hydroxyprogesterone and 17a-hydroxypregnenolone respectively in the mitochondria, as well as hydroxylating 21-deoxycortisol to 11b-hydroxyprogesterone within the endoplasmic reticulum. When mutated, it leads to an accumulation of pregnenolone, progesterone, deoxycorticosterone and 11-dehydrocorticosterone throughout the cell. 17-alpha hydroxylase deficiency is characterized by a deficiency of sex steroids, as well as glucocorticoids. Symptoms include male undervirilization, as well as lack of development during puberty including amenorrhea for females. Low levels of potassium in the blood due to the increased levels of mineralocorticoids can occur, as well as hypertension. Treatment with dexamethasone has been able to normalize blood pressure and blood potassium levels. It is estimated that 17-alpha-hydroxylase deficiency affects 1 in 1,000,000 individuals.

PW121886

Pw121886 View Pathway
disease

17-alpha-Hydroxylase Deficiency (CYP17)

Mus musculus
17-alpha-hydroxylase deficiency, also known as congenital adrenal hyperplasia (CAH) due to 17-alpha-hydroxylase deficiency or congenital adrenal hyperplasia type 5, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of the steroidogenesis pathway. It is caused by a mutation in the CYP17A1 gene which encodes the enzyme steroid 17-alpha-hydroxylase. This enzyme hydroxylates both progesterone and pregnenolone into 17-hydroxyprogesterone and 17a-hydroxypregnenolone respectively in the mitochondria, as well as hydroxylating 21-deoxycortisol to 11b-hydroxyprogesterone within the endoplasmic reticulum. When mutated, it leads to an accumulation of pregnenolone, progesterone, deoxycorticosterone and 11-dehydrocorticosterone throughout the cell. 17-alpha hydroxylase deficiency is characterized by a deficiency of sex steroids, as well as glucocorticoids. Symptoms include male undervirilization, as well as lack of development during puberty including amenorrhea for females. Low levels of potassium in the blood due to the increased levels of mineralocorticoids can occur, as well as hypertension. Treatment with dexamethasone has been able to normalize blood pressure and blood potassium levels. It is estimated that 17-alpha-hydroxylase deficiency affects 1 in 1,000,000 individuals.

PW122110

Pw122110 View Pathway
disease

17-alpha-Hydroxylase Deficiency (CYP17)

Rattus norvegicus
17-alpha-hydroxylase deficiency, also known as congenital adrenal hyperplasia (CAH) due to 17-alpha-hydroxylase deficiency or congenital adrenal hyperplasia type 5, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of the steroidogenesis pathway. It is caused by a mutation in the CYP17A1 gene which encodes the enzyme steroid 17-alpha-hydroxylase. This enzyme hydroxylates both progesterone and pregnenolone into 17-hydroxyprogesterone and 17a-hydroxypregnenolone respectively in the mitochondria, as well as hydroxylating 21-deoxycortisol to 11b-hydroxyprogesterone within the endoplasmic reticulum. When mutated, it leads to an accumulation of pregnenolone, progesterone, deoxycorticosterone and 11-dehydrocorticosterone throughout the cell. 17-alpha hydroxylase deficiency is characterized by a deficiency of sex steroids, as well as glucocorticoids. Symptoms include male undervirilization, as well as lack of development during puberty including amenorrhea for females. Low levels of potassium in the blood due to the increased levels of mineralocorticoids can occur, as well as hypertension. Treatment with dexamethasone has been able to normalize blood pressure and blood potassium levels. It is estimated that 17-alpha-hydroxylase deficiency affects 1 in 1,000,000 individuals.

PW000059

Pw000059 View Pathway
disease

17-beta Hydroxysteroid Dehydrogenase III Deficiency

Homo sapiens
17-beta hydroxysteroid dehydrogenase III deficiency, also known as 17-KSR deficiency or male pseudohermaphroditism with gynecomastia (MPH), is as rare inborn error of metabolism (IEM) and autosomal recessive disorder of the androgen and estrogen metabolism pathway. It is caused by a mutation in the HSD17B3 gene, which encodes the enzyme testosterone 17-beta-dehydrogenase 3, which is responsible for catalyzing the reversible formation of androstenedione from testosterone. This leads to an accumulation of androstenedione and dehydroepiandrosterone in the body, as well as a lack of testosterone produced. 17-KSR deficiency is characterized by an absence of testosterone in the testis until puberty, where testosterone is produced outside of the gonads. Symptoms include infertility and external female genitalia until puberty, when secondary male sex characteristics occur, as well as gynecomastia. Due to this, many individuals with this disorder are raised as female despite being genetically male, until puberty. Treatment can include removal of testes before puberty, preventing any masculinization at puberty, as well as surgical treatment of genitalia. However, there is no known treatment for restoring the fertility of affected individuals. It is estimated that 17-KSR deficiency affects 1 in 150,000 individuals in The Netherlands, without much information for the rest of the world.

PW121688

Pw121688 View Pathway
disease

17-beta Hydroxysteroid Dehydrogenase III Deficiency

Mus musculus
17-beta hydroxysteroid dehydrogenase III deficiency, also known as 17-KSR deficiency or male pseudohermaphroditism with gynecomastia (MPH), is as rare inborn error of metabolism (IEM) and autosomal recessive disorder of the androgen and estrogen metabolism pathway. It is caused by a mutation in the HSD17B3 gene, which encodes the enzyme testosterone 17-beta-dehydrogenase 3, which is responsible for catalyzing the reversible formation of androstenedione from testosterone. This leads to an accumulation of androstenedione and dehydroepiandrosterone in the body, as well as a lack of testosterone produced. 17-KSR deficiency is characterized by an absence of testosterone in the testis until puberty, where testosterone is produced outside of the gonads. Symptoms include infertility and external female genitalia until puberty, when secondary male sex characteristics occur, as well as gynecomastia. Due to this, many individuals with this disorder are raised as female despite being genetically male, until puberty. Treatment can include removal of testes before puberty, preventing any masculinization at puberty, as well as surgical treatment of genitalia. However, there is no known treatment for restoring the fertility of affected individuals. It is estimated that 17-KSR deficiency affects 1 in 150,000 individuals in The Netherlands, without much information for the rest of the world.

PW121914

Pw121914 View Pathway
disease

17-beta Hydroxysteroid Dehydrogenase III Deficiency

Rattus norvegicus
17-beta hydroxysteroid dehydrogenase III deficiency, also known as 17-KSR deficiency or male pseudohermaphroditism with gynecomastia (MPH), is as rare inborn error of metabolism (IEM) and autosomal recessive disorder of the androgen and estrogen metabolism pathway. It is caused by a mutation in the HSD17B3 gene, which encodes the enzyme testosterone 17-beta-dehydrogenase 3, which is responsible for catalyzing the reversible formation of androstenedione from testosterone. This leads to an accumulation of androstenedione and dehydroepiandrosterone in the body, as well as a lack of testosterone produced. 17-KSR deficiency is characterized by an absence of testosterone in the testis until puberty, where testosterone is produced outside of the gonads. Symptoms include infertility and external female genitalia until puberty, when secondary male sex characteristics occur, as well as gynecomastia. Due to this, many individuals with this disorder are raised as female despite being genetically male, until puberty. Treatment can include removal of testes before puberty, preventing any masculinization at puberty, as well as surgical treatment of genitalia. However, there is no known treatment for restoring the fertility of affected individuals. It is estimated that 17-KSR deficiency affects 1 in 150,000 individuals in The Netherlands, without much information for the rest of the world.

PW064417

Pw064417 View Pathway
metabolic

2,3-Butanediol

Escherichia coli (strain K12)
Metabolic pathway for 2,3-Butanediol synthesis in E. coli AV12 by expresing an sinthetic operon.

PW064418

Pw064418 View Pathway
metabolic

2,3-Butanediol (2,3-BDO)

Escherichia coli (strain K12)

PW000751

Pw000751 View Pathway
metabolic

2,3-Dihydroxybenzoate Biosynthesis

Escherichia coli
2,3-Dihydroxybenzoate, also known as 2-pyrochatechuic acid or hypogallic acid, is a phenol compound found in bacteria that can be a component of siderophores. These are compounds that strongly bind iron molecules and allow them to be taken up and used by the bacteria in cases of iron scarcity. An example of a siderophore in E. coli is enterobactin, which can be produced from 2,3-dihydroxybenzoate as part of the enterobactin biosynthesis pathway. In this pathway, chorismate, which is the product of the chorismate biosynthesis pathway, is converted to isochorismate in a reaction catalyzed by isochorismate synthase. Following this, a water molecule is added to isochorismate by isochorismatase, which then removes a pyruvic acid molecule as a byproduct, and forms (2S, 3S)-2,3-dihydroxy-2,3-dihydrobenzoate. Finally, 2,3-dihydro-2,3-dihydroxybenzoate dehydrogenase catalyzes the dehydrogenation of (2S, 3S)-2,3-dihydroxy-2,3-dihydrobenzoate into 2-pyrocatechuric acid (2,3-dihydroxybenzoate), using NAD as a cofactor. 2-Pyrocatechuric acid can then be used as a part of the enterobactin biosynthesis pathway, or it can be converted to 2-carboxymuconate by blue copper oxidase cueO.

PW122554

Pw122554 View Pathway
metabolic

2,3-Dihydroxybenzoate Biosynthesis

Pseudomonas aeruginosa
2,3-Dihydroxybenzoate, also known as 2-pyrochatechuic acid or hypogallic acid, is a phenol compound found in bacteria that can be a component of siderophores. These are compounds that strongly bind iron molecules and allow them to be taken up and used by the bacteria in cases of iron scarcity. An example of a siderophore in E. coli is enterobactin, which can be produced from 2,3-dihydroxybenzoate as part of the enterobactin biosynthesis pathway. In this pathway, chorismate, which is the product of the chorismate biosynthesis pathway, is converted to isochorismate in a reaction catalyzed by isochorismate synthase. Following this, a water molecule is added to isochorismate by isochorismatase, which then removes a pyruvic acid molecule as a byproduct, and forms (2S, 3S)-2,3-dihydroxy-2,3-dihydrobenzoate. Finally, 2,3-dihydro-2,3-dihydroxybenzoate dehydrogenase catalyzes the dehydrogenation of (2S, 3S)-2,3-dihydroxy-2,3-dihydrobenzoate into 2-pyrocatechuric acid (2,3-dihydroxybenzoate), using NAD as a cofactor. 2-Pyrocatechuric acid can then be used as a part of the enterobactin biosynthesis pathway, or it can be converted to 2-carboxymuconate by blue copper oxidase cueO.