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Showing 31 - 40 of 109292 pathways
PathBank ID Pathway Chemical Compounds Proteins

SMP0120859

Pw122120 View Pathway
Metabolite

21-Hydroxylase Deficiency (CYP21)

Rattus norvegicus
Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands (steroidogenesis). 21-hydroxylase deficiency is an inherited disorder that affects the adrenal glands. The adrenal glands are located on top of the kidneys and produce a variety of hormones that regulate many essential functions in the body. In people with 21-hydroxylase deficiency, the adrenal glands produce excess androgens, which are male sex hormones. There are three types of 21-hydroxylase deficiency. Two types are classic forms, known as the salt-wasting and simple virilizing types. The third type is called the non-classic type. The salt-wasting type is the most severe, the simple virilizing type is less severe, and the non-classic type is the least severe form.

Disease

SMP0000576

Pw000552 View Pathway
Metabolite

21-Hydroxylase Deficiency (CYP21)

Homo sapiens
Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands (steroidogenesis). 21-hydroxylase deficiency is an inherited disorder that affects the adrenal glands. The adrenal glands are located on top of the kidneys and produce a variety of hormones that regulate many essential functions in the body. In people with 21-hydroxylase deficiency, the adrenal glands produce excess androgens, which are male sex hormones. There are three types of 21-hydroxylase deficiency. Two types are classic forms, known as the salt-wasting and simple virilizing types. The third type is called the non-classic type. The salt-wasting type is the most severe, the simple virilizing type is less severe, and the non-classic type is the least severe form.

Disease

SMP0120871

Pw122132 View Pathway
Metabolite

27-Hydroxylase Deficiency

Rattus norvegicus
Sterol 27-hydroxylase, a mitochondrial cytochrome P450, together with 2 protein cofactors, adrenodoxin and adrenodoxin reductase, hydroxylates a variety of sterols at the C27 position. In the bile acid synthesis pathway, sterol 27-hydroxylase catalyzes the first step in the oxidation of the side chain of sterol intermediates (summary by Cali and Russell, 1991). Defects in the gene lead to reduced bile acid biosynthesis, with accumulation of 7 alpha-hydroxylated intermediates and decrease of Cholesterol.

Disease

SMP0000720

Pw000697 View Pathway
Metabolite

27-Hydroxylase Deficiency

Homo sapiens
Sterol 27-hydroxylase, a mitochondrial cytochrome P450, together with 2 protein cofactors, adrenodoxin and adrenodoxin reductase, hydroxylates a variety of sterols at the C27 position. In the bile acid synthesis pathway, sterol 27-hydroxylase catalyzes the first step in the oxidation of the side chain of sterol intermediates (summary by Cali and Russell, 1991). Defects in the gene lead to reduced bile acid biosynthesis, with accumulation of 7 alpha-hydroxylated intermediates and decrease of Cholesterol.

Disease

SMP0120652

Pw121908 View Pathway
Metabolite

27-Hydroxylase Deficiency

Mus musculus
Sterol 27-hydroxylase, a mitochondrial cytochrome P450, together with 2 protein cofactors, adrenodoxin and adrenodoxin reductase, hydroxylates a variety of sterols at the C27 position. In the bile acid synthesis pathway, sterol 27-hydroxylase catalyzes the first step in the oxidation of the side chain of sterol intermediates (summary by Cali and Russell, 1991). Defects in the gene lead to reduced bile acid biosynthesis, with accumulation of 7 alpha-hydroxylated intermediates and decrease of Cholesterol.

Disease

SMP0120869

Pw122130 View Pathway
Metabolite

3-beta-Hydroxysteroid Dehydrogenase Deficiency

Rattus norvegicus
3-beta (β)-hydroxysteroid dehydrogenase (HSD) deficiency is an inherited disorder that affects hormone-producing glands including the gonads (ovaries in females and testes in males) and the adrenal glands.Mutations in the HSD3B2 gene cause 3β-HSD deficiency. The HSD3B2 gene provides instructions for making the 3β-HSD enzyme. This enzyme is found in the gonads and adrenal glands. The 3β-HSD enzyme is involved in the production of many hormones, including cortisol, aldosterone, androgens, and estrogen. Cortisol has numerous functions such as maintaining energy and blood sugar levels, protecting the body from stress, and suppressing inflammation.

Disease

SMP0120650

Pw121906 View Pathway
Metabolite

3-beta-Hydroxysteroid Dehydrogenase Deficiency

Mus musculus
3-beta (β)-hydroxysteroid dehydrogenase (HSD) deficiency is an inherited disorder that affects hormone-producing glands including the gonads (ovaries in females and testes in males) and the adrenal glands.Mutations in the HSD3B2 gene cause 3β-HSD deficiency. The HSD3B2 gene provides instructions for making the 3β-HSD enzyme. This enzyme is found in the gonads and adrenal glands. The 3β-HSD enzyme is involved in the production of many hormones, including cortisol, aldosterone, androgens, and estrogen. Cortisol has numerous functions such as maintaining energy and blood sugar levels, protecting the body from stress, and suppressing inflammation.

Disease

SMP0000718

Pw000695 View Pathway
Metabolite

3-beta-Hydroxysteroid Dehydrogenase Deficiency

Homo sapiens
3-beta (β)-hydroxysteroid dehydrogenase (HSD) deficiency is an inherited disorder that affects hormone-producing glands including the gonads (ovaries in females and testes in males) and the adrenal glands.Mutations in the HSD3B2 gene cause 3β-HSD deficiency. The HSD3B2 gene provides instructions for making the 3β-HSD enzyme. This enzyme is found in the gonads and adrenal glands. The 3β-HSD enzyme is involved in the production of many hormones, including cortisol, aldosterone, androgens, and estrogen. Cortisol has numerous functions such as maintaining energy and blood sugar levels, protecting the body from stress, and suppressing inflammation.

Disease

SMP0120661

Pw121917 View Pathway
Metabolite

3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency

Rattus norvegicus
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (3-Hydroxy-3-methylglutaric acidemia; Leucine metabolism, defect in, HMG-CoA lyase deficiency) is an autosomal recessive disease caused by a mutation in the HMGCL gene which codes for hydroxymethylglutaryl-CoA lyase. A deficiency in this enzyme results in accumulation of 3-hydroxymethylglutaric acid, 3-hydroxyisovaleric acid, 3-methylcrotonylglycine and 3-methylglutaconic acid (cis and trans form), and methylglutaric acid in urine; and ammonia in blood. Symptoms include cardiomyopathy, dehydration, hypotonia, lactic acidosis, and pancreatitis. Treatment includes a low-fat, low-protein, high-carbohydrate diet.

Disease

SMP0120440

Pw121691 View Pathway
Metabolite

3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency

Mus musculus
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (3-Hydroxy-3-methylglutaric acidemia; Leucine metabolism, defect in, HMG-CoA lyase deficiency) is an autosomal recessive disease caused by a mutation in the HMGCL gene which codes for hydroxymethylglutaryl-CoA lyase. A deficiency in this enzyme results in accumulation of 3-hydroxymethylglutaric acid, 3-hydroxyisovaleric acid, 3-methylcrotonylglycine and 3-methylglutaconic acid (cis and trans form), and methylglutaric acid in urine; and ammonia in blood. Symptoms include cardiomyopathy, dehydration, hypotonia, lactic acidosis, and pancreatitis. Treatment includes a low-fat, low-protein, high-carbohydrate diet.

Disease
Showing 31 - 40 of 109292 pathways