SMP0000371
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Congenital Lipoid Adrenal Hyperplasia (CLAH) or Lipoid CAH
Homo sapiens
Matched Description: Congenital Lipoid Adrenal Hyperplasia (CLA),also called steroid 20-22 desmolase deficiency and … lipoid CAH, is an autosomal recessive disorder and caused by a defective cholesterol side-chain cleavage … disorder is not clear. Extra glucocorticoid and mineral replacement could be the potential treatments.
Matched Compounds: 3a,11b,21-Trihydroxy-20-oxo-5b-pregnan-18-al … Aldosterone … 3a-Hydroxy-5b-pregnane-20-one
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 … (3a,5b,11b)-3,11,21-trihydroxy-pregnan-20-one
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SMP0125800
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11-beta-Hydroxylase Deficiency (CYP11B1)
Homo sapiens
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: 3a,11b,21-Trihydroxy-20-oxo-5b-pregnan-18-al … Aldosterone … 3a-Hydroxy-5b-pregnane-20-one
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 … (3a,5b,11b)-3,11,21-trihydroxy-pregnan-20-one
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SMP0000135
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Eplerenone Action Pathway (Old)
Homo sapiens
Matched Description: inside the principal cells of the late distal tubule and collecting tubule. Aldosterone increases … Eplerenone is a potassium-sparing diuretic. It acts by competing with aldosterone for its receptor … sodium reabsorption and potassium excretion by up-regulating the expression of basolateral sodium … -potassium ATPases as well as luminal (apical) sodium and potassium channels. Sodium in the nephron lumen … hyperosmotic and establishes an osmotic gradient, facilitating water reabsorption through aquaporin channels
Matched Compounds: Aldosterone
Matched Proteins: Sodium- and chloride-dependent transporter XTRP3 … Neutral and basic amino acid transport protein rBAT
Matched Protein Synonyms: Neuronal and epithelial glutamate transporter … Solute carrier family 6 member 20 … Water channel protein for red blood cells and kidney proximal tubule … Water channel protein for red blood cells and kidney proximal tubule
Matched Compound Synonyms: (+)-aldosterone … D-aldosterone … Delta-aldosterone … Aldosterone … [co2(oh)](-)
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SMP0000717
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Apparent Mineralocorticoid Excess Syndrome
Homo sapiens
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: 3a,11b,21-Trihydroxy-20-oxo-5b-pregnan-18-al … Aldosterone … 3a-Hydroxy-5b-pregnane-20-one
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 … (3a,5b,11b)-3,11,21-trihydroxy-pregnan-20-one
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SMP0125797
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Adrenal Hyperplasia Type 3 or Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Homo sapiens
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: 3a,11b,21-Trihydroxy-20-oxo-5b-pregnan-18-al … Aldosterone … 3a-Hydroxy-5b-pregnane-20-one
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 … (3a,5b,11b)-3,11,21-trihydroxy-pregnan-20-one
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SMP0125801
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Corticosterone Methyl Oxidase I Deficiency (CMO I)
Homo sapiens
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: 3a,11b,21-Trihydroxy-20-oxo-5b-pregnan-18-al … Aldosterone … 3a-Hydroxy-5b-pregnane-20-one
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 … (3a,5b,11b)-3,11,21-trihydroxy-pregnan-20-one
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SMP0000575
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11-beta-Hydroxylase Deficiency (CYP11B1)
Homo sapiens
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: 3a,11b,21-Trihydroxy-20-oxo-5b-pregnan-18-al … Aldosterone … 3a-Hydroxy-5b-pregnane-20-one
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 … (3a,5b,11b)-3,11,21-trihydroxy-pregnan-20-one
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SMP0000718
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3-beta-Hydroxysteroid Dehydrogenase Deficiency
Homo sapiens
Matched Description: metabolism (IEM) and autosomal recessive disorder of the steroidogenesis pathway. It is caused by an defect … produced, cortisol levels in the cell are lowered, and as cortisol is used in the production of other … of cortisol produced in the adrenal glands. Symptoms include abnormal genitalia for both males and
Matched Compounds: 3a,11b,21-Trihydroxy-20-oxo-5b-pregnan-18-al … Aldosterone … 3a-Hydroxy-5b-pregnane-20-one
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 … (3a,5b,11b)-3,11,21-trihydroxy-pregnan-20-one
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SMP0125804
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3-beta-Hydroxysteroid Dehydrogenase Deficiency
Homo sapiens
Matched Description: metabolism (IEM) and autosomal recessive disorder of the steroidogenesis pathway. It is caused by an defect … produced, cortisol levels in the cell are lowered, and as cortisol is used in the production of other … of cortisol produced in the adrenal glands. Symptoms include abnormal genitalia for both males and
Matched Compounds: 3a,11b,21-Trihydroxy-20-oxo-5b-pregnan-18-al … Aldosterone … 3a-Hydroxy-5b-pregnane-20-one
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 … (3a,5b,11b)-3,11,21-trihydroxy-pregnan-20-one
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SMP0125798
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Congenital Lipoid Adrenal Hyperplasia (CLAH) or Lipoid CAH
Homo sapiens
Matched Description: Congenital Lipoid Adrenal Hyperplasia (CLA),also called steroid 20-22 desmolase deficiency and … lipoid CAH, is an autosomal recessive disorder and caused by a defective cholesterol side-chain cleavage … disorder is not clear. Extra glucocorticoid and mineral replacement could be the potential treatments.
Matched Compounds: 3a,11b,21-Trihydroxy-20-oxo-5b-pregnan-18-al … Aldosterone … 3a-Hydroxy-5b-pregnane-20-one
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 … (3a,5b,11b)-3,11,21-trihydroxy-pregnan-20-one
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