SMP0000372
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Disease
Adrenal Hyperplasia Type 5 or Congenital Adrenal Hyperplasia Due to 17 alpha-Hydroxylase Deficiency
Matched Description: -Hydroxylase Deficiency is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of … cortisol and sex steroids synthesis caused by a defect in the CYP17A1 gene which codes for Steroid 17 … -alpha-hydroxylase/17,20 lyase. These 2 enzymes catalyze pregnenolone and progesterone to their 17 … -hydroxy forms in steroidogenesis and mediate three key transformations in cortisol and sex steroid … synthesis. This disorder is characterized by a decrease in both cortisol and sex steroids and increase
Matched Compounds: Aldosterone
Matched Protein Synonyms: Aldosterone synthase … Aldosterone-synthesizing enzyme … Aldosterone synthase … Aldosterone-synthesizing enzyme … Hydroxy-delta-5-steroid dehydrogenase, 3 beta-and steroid delta-isomerase 2, isoform CRA_a
Matched Compound Synonyms: (+)-aldosterone … D-aldosterone … Delta-aldosterone … Aldosterone … 17-oh progesterone
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SMP0000566
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Disease
17-alpha-Hydroxylase Deficiency (CYP17)
Matched Description: metabolism (IEM) and autosomal recessive disorder of the steroidogenesis pathway. It is caused by a mutation … both progesterone and pregnenolone into 17-hydroxyprogesterone and 17a-hydroxypregnenolone … , deoxycorticosterone and 11-dehydrocorticosterone throughout the cell. 17-alpha hydroxylase … , as well as hypertension. Treatment with dexamethasone has been able to normalize blood pressure and
Matched Compounds: Aldosterone
Matched Protein Synonyms: Aldosterone synthase … Aldosterone-synthesizing enzyme … Aldosterone synthase … Aldosterone-synthesizing enzyme … Hydroxy-delta-5-steroid dehydrogenase, 3 beta-and steroid delta-isomerase 2, isoform CRA_a
Matched Compound Synonyms: (+)-aldosterone … D-aldosterone … Delta-aldosterone … Aldosterone … 17-oh progesterone
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SMP0125802
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Disease
Corticosterone Methyl Oxidase II Deficiency (CMO II)
Matched Description: , and due to the enzyme not being entirely functional, it builds up in the cell, while aldosterone … less severe changes in aldosterone and 18-OHB concentrations. The CMO-II deficiency, and its … of aldosterone being lower due to this deficiency, excess sodium is excreted in the urine, and … aldosterone deficiency II among other names, is a genetic disorder that is autosomally linked. It is … formation of aldosterone from 18-hydroxycorticosterone (18-OHB), as well as converting progesterone to
Matched Compounds: Aldosterone
Matched Protein Synonyms: Aldosterone synthase … Aldosterone-synthesizing enzyme … Aldosterone synthase … Aldosterone-synthesizing enzyme … Hydroxy-delta-5-steroid dehydrogenase, 3 beta-and steroid delta-isomerase 2, isoform CRA_a
Matched Compound Synonyms: (+)-aldosterone … D-aldosterone … Delta-aldosterone … Aldosterone … 17-oh progesterone
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SMP0000577
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Disease
Corticosterone Methyl Oxidase I Deficiency (CMO I)
Matched Description: aldosterone deficiency among other names, is a genetic disorder that is autosomally linked and … , 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 … deficiency, aldosterone levels are so low that they are undetectable in plasma.
Matched Compounds: Aldosterone
Matched Protein Synonyms: Aldosterone synthase … Aldosterone-synthesizing enzyme … Aldosterone synthase … Aldosterone-synthesizing enzyme … Hydroxy-delta-5-steroid dehydrogenase, 3 beta-and steroid delta-isomerase 2, isoform CRA_a
Matched Compound Synonyms: (+)-aldosterone … D-aldosterone … Delta-aldosterone … Aldosterone … 17-oh progesterone
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SMP0125800
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Disease
11-beta-Hydroxylase Deficiency (CYP11B1)
Matched Description: recessive disorder and caused by a defective 11-beta-hydroxylase. 11-beta-hydroxylase catalyzes the … conversion of cortexolone into cortisol which is useful for maintaining blood sugar levels and … endoplasmic reticulum (ER). Symptoms of the disorder include abnormality of hair growth rate and
Matched Compounds: Aldosterone
Matched Protein Synonyms: Aldosterone synthase … Aldosterone-synthesizing enzyme … Aldosterone synthase … Aldosterone-synthesizing enzyme … Hydroxy-delta-5-steroid dehydrogenase, 3 beta-and steroid delta-isomerase 2, isoform CRA_a
Matched Compound Synonyms: (+)-aldosterone … D-aldosterone … Delta-aldosterone … Aldosterone … 17-oh progesterone
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SMP0000576
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Disease
21-Hydroxylase Deficiency (CYP21)
Matched Description: biosynthesis pathways, including those producing aldosterone and cortisol, and leads to a buildup of … cases of CAH. This deficiency affects cells in the adrenal cortex of the adrenal glands, and due to … -hydroxylase, and is caused by a complete lack of functional enzyme. This form is called the salt … -wasting form, as the lack of aldosterone produced leads to high levels of sodium excreted in the urine … if properly diagnosed, saline solution and hydrocortisone can restore normal blood levels and sodium
Matched Compounds: Aldosterone
Matched Protein Synonyms: Aldosterone synthase … Aldosterone-synthesizing enzyme … Aldosterone synthase … Aldosterone-synthesizing enzyme … Hydroxy-delta-5-steroid dehydrogenase, 3 beta-and steroid delta-isomerase 2, isoform CRA_a
Matched Compound Synonyms: (+)-aldosterone … D-aldosterone … Delta-aldosterone … Aldosterone … 17-oh progesterone
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SMP0000130
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Metabolic
Steroidogenesis
Matched Description: , aldosterone and progesterone. To begin the synthesis of steroid hormones, cholesterol synthesizes a … the mitochondria and becoming fixed in the inner mitochondrial membrane. Once there, the cholesterol … aldosterone. 17alpha-hydroxyprogesterone is created from pregnenolone by using 3-beta-hydroxysteroid … active steroid hormone, and its conversion to the inactive cortisone has been known to occur in … pathway such as testosterone and estrogen. Cortisol receptors are found in almost every bodily cell, so
Matched Compounds: Aldosterone
Matched Protein Synonyms: Aldosterone synthase … Aldosterone-synthesizing enzyme … Aldosterone synthase … Aldosterone-synthesizing enzyme … Hydroxy-delta-5-steroid dehydrogenase, 3 beta-and steroid delta-isomerase 2, isoform CRA_a
Matched Compound Synonyms: (+)-aldosterone … D-aldosterone … Delta-aldosterone … Aldosterone … 17-oh progesterone
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SMP0000373
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Disease
Adrenal Hyperplasia Type 3 or Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Matched Description: , deoxycorticosterone, aldosterone and cortisol. Symptoms include salt-wasting crises in infancy due … to the lack of aldosterone, like spitting, poor weight gain, vomiting, severe dehydration, and … to aldosterone. A defect in this enzyme results in accumulation of 17-Hydroxyprogesterone … , progesterone and 17a-Hydroxypregnenolone, androstenedione, and testosterone; decreased levels of cortexolone … circulatory collapse. The high level of testosterone results in virilization and genital ambiguity of female infants.
Matched Compounds: Aldosterone
Matched Protein Synonyms: Aldosterone synthase … Aldosterone-synthesizing enzyme … Aldosterone synthase … Aldosterone-synthesizing enzyme … Hydroxy-delta-5-steroid dehydrogenase, 3 beta-and steroid delta-isomerase 2, isoform CRA_a
Matched Compound Synonyms: (+)-aldosterone … D-aldosterone … Delta-aldosterone … Aldosterone … 17-oh progesterone
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SMP0125799
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Disease
Adrenal Hyperplasia Type 5 or Congenital Adrenal Hyperplasia Due to 17 alpha-Hydroxylase Deficiency
Matched Description: -Hydroxylase Deficiency is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of … cortisol and sex steroids synthesis caused by a defect in the CYP17A1 gene which codes for Steroid 17 … -alpha-hydroxylase/17,20 lyase. These 2 enzymes catalyze pregnenolone and progesterone to their 17 … -hydroxy forms in steroidogenesis and mediate three key transformations in cortisol and sex steroid … synthesis. This disorder is characterized by a decrease in both cortisol and sex steroids and increase
Matched Compounds: Aldosterone
Matched Protein Synonyms: Aldosterone synthase … Aldosterone-synthesizing enzyme … Aldosterone synthase … Aldosterone-synthesizing enzyme … Hydroxy-delta-5-steroid dehydrogenase, 3 beta-and steroid delta-isomerase 2, isoform CRA_a
Matched Compound Synonyms: (+)-aldosterone … D-aldosterone … Delta-aldosterone … Aldosterone … 17-oh progesterone
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SMP0000717
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Disease
Apparent Mineralocorticoid Excess Syndrome
Matched Description: , symptoms include low levels of aldosterone, failure to thrive and hypertension. Treatment with … corticoids that suppress the secretion of cortisol within the body can affect blood pressure and aldosterone … , is an extremely rare inborn error of metabolism (IEM) and autosomal recessive disorder of the … -beta-dehydrogenase isozyme 2, and enzyme that converts cortisol to cortisone in the cell. Without … tetrahydrocortisone levels dissipate. AME is characterized excessive thirst and urination, and along with this
Matched Compounds: Aldosterone
Matched Protein Synonyms: Aldosterone synthase … Aldosterone-synthesizing enzyme … Aldosterone synthase … Aldosterone-synthesizing enzyme … Hydroxy-delta-5-steroid dehydrogenase, 3 beta-and steroid delta-isomerase 2, isoform CRA_a
Matched Compound Synonyms: (+)-aldosterone … D-aldosterone … Delta-aldosterone … Aldosterone … 17-oh progesterone
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