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Pathways

Showing 1 - 10 of 233 pathways
SMPDB ID Pathway Chemical Compounds Proteins

SMP00575

Pw000551 View Pathway
disease

11-beta-hydroxylase deficiency (CYP11B1)

Homo sapiens
Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is one of a group of disorders (collectively called congenital adrenal hyperplasia) that affect 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 CAH due to 11-beta-hydroxylase deficiency, the adrenal glands produce excess androgens, which are male sex hormones. There are two types of CAH due to 11-beta-hydroxylase deficiency, the classic form and the non-classic form. The classic form is the more severe of the two types.

SMP00566

Pw000542 View Pathway
disease

17-alpha-hydroxylase deficiency (CYP17)

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). Most of these conditions involve excessive or deficient production of sex steroids and can alter development of primary or secondary sex characteristics in some affected infants, children, or adults.

SMP00356

Pw000059 View Pathway
disease

17-Beta Hydroxysteroid Dehydrogenase III Deficiency

Homo sapiens
Defects in 17-beta hydroxysteroid dehydrogenase III (HSD17B3) are the cause of male pseudohermaphrodism with gynecomastia. These individuals have unambiguous female external genitalia at birth, but fail to menstruate at the time of expected puberty and instead virilize as evidenced by growth of the phallus. A defect in HSD17B3 causes accumulation of dehydroepiandrosterone (DHA), and dehydroepiandrosterone sulfate (DHAS) as well as androstenedione in plasma.

SMP00719

Pw000696 View Pathway
disease

2-aminoadipic 2-oxoadipic aciduria

Homo sapiens
Mutations in DHTKD1 (dehydrogenase E1 and transketolase domain-containing protein 1) have been shown to cause human 2-aminoadipic and 2-oxoadipic aciduria via impaired turnover of decarboxylation 2-oxoadipate to glutaryl-CoA, which is the last step in the lysine degradation pathway (PMID: 23141293 ).It is a metabolic disorder characterized by increased levels of 2-oxoadipate and 2-hydroxyadipate in the urine. Patients can have mild to severe intellectual disability, muscular hypotonia, developmental delay, ataxia, and epilepsy. Most cases are asymptomatic.

SMP00136

Pw000212 View Pathway
disease

2-Hydroxyglutric Aciduria (D And L Form)

Homo sapiens
L-2-Hydroxyglutaric Aciduria (D-2-Hydroxyglutaric Aciduria ) is an autosomal recessive disease caused by a mutation in the L2HGDH gene which codes for L-2-Hydroxygluarate dehydrogenase. A deficiency in this enzyme results in accumulation of L-2-Hydroxyglutaric acid in plasma, spinal fluid, and urine; and L-lysine in plasma and spinal fluid. Symptoms, which present at birth, include ataxia, hypotonia, mental retardation, and seizures. Premature death often results. D-2-Hydroxyglutaric Aciduria is an autosomal recessive disease caused by a mutation in the D2HGDH gene which does for D-2-Hydroxygluarate dehydrogenase. A deficiency in this enzyme results in accumulation of D-2-Hydroxyglutaric acid in plasma, spinal fluid, and urine; oxoglutaric acid in urine; and gabba-aminobutyric acid in spinal fluid. Symptoms, which present at birth, include ataxia, hypotonia, mental retardation, and seizures. Premature death often results.

SMP00549

Pw000525 View Pathway
disease

2-ketoglutarate dehydrogenase complex deficiency

Homo sapiens
2-Ketoglutarate dehydrogenase complex deficiency is a rare autosomal recessive disease. 2-ketoglutarate dehydrogenase is an enzyme of the Krebs cycle that catalyzes the oxidation of alpha-ketoglutarate to succinyl CoA. The deficiency of 2-Ketoglutarate dehydrogenase complex results in the disorder of Krebs cycle with accumulation of succinyl CoA. The primary manifestations include developmental delay, ataxia, opisthotonus, seizure and other neurological symptoms.

SMP00137

Pw000061 View Pathway
disease

2-Methyl-3-Hydroxybutryl CoA Dehydrogenase Deficiency

Homo sapiens
2-Methyl-3-hydroxybutyryl CoA dehydrogenase deficiency (Hydroxyl-CoA dehydrogenase deficiency; MHBD) is a rare inborn disease of metabolism caused by a mutation in the HSD17B10 gene which codes for 3-hydroxyacyl-CoA dehydrogenase type-2. A deficiency in this enzyme results in accumulation of L-lactic acid in blood, spinal fluid, and urine; 2-ethylhydracrylic acid, 2-methyl-3-hydroxybutyric acid, and tiglylglycine in urine. Symptoms include cerebal atrophy, motor and mental retardation, overactivity and behavior issues, seizures and progressive neurological defects leading to early death. Treatment includes a high carbohydrate and low protein diet.

SMP00576

Pw000552 View Pathway
disease

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.

SMP00720

Pw000697 View Pathway
disease

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.

SMP00718

Pw000695 View Pathway
disease

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.
Showing 1 - 10 of 233 pathways