SMP0120649
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Apparent Mineralocorticoid Excess Syndrome
Mus musculus
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 Compound Synonyms: (+)-aldosterone … D-aldosterone … Delta-aldosterone … Aldosterone … (3a,5b,11b)-3,11,21-trihydroxy-pregnan-20-one
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SMP0120641
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Corticosterone Methyl Oxidase I Deficiency (CMO I)
Mus musculus
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 Compound Synonyms: (+)-aldosterone … D-aldosterone … Delta-aldosterone … Aldosterone … (3a,5b,11b)-3,11,21-trihydroxy-pregnan-20-one
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SMP0120868
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Apparent Mineralocorticoid Excess Syndrome
Rattus norvegicus
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 Compound Synonyms: (+)-aldosterone … D-aldosterone … Delta-aldosterone … Aldosterone … (3a,5b,11b)-3,11,21-trihydroxy-pregnan-20-one
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SMP0087238
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Steroidogenesis
Bos taurus
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: 3a,11b,21-Trihydroxy-20-oxo-5b-pregnan-18-al … Aldosterone … 3a-Hydroxy-5b-pregnane-20-one
Matched Compound Synonyms: (+)-aldosterone … D-aldosterone … Delta-aldosterone … Aldosterone … (3a,5b,11b)-3,11,21-trihydroxy-pregnan-20-one
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SMP0120690
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Congenital Lipoid Adrenal Hyperplasia (CLAH) or Lipoid CAH
Rattus norvegicus
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 Compound Synonyms: (+)-aldosterone … D-aldosterone … Delta-aldosterone … Aldosterone … (3a,5b,11b)-3,11,21-trihydroxy-pregnan-20-one
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SMP0120671
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Adrenal Hyperplasia Type 3 or Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Rattus norvegicus
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 Compound Synonyms: (+)-aldosterone … D-aldosterone … Delta-aldosterone … Aldosterone … (3a,5b,11b)-3,11,21-trihydroxy-pregnan-20-one
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SMP0120639
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11-beta-Hydroxylase Deficiency (CYP11B1)
Mus musculus
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 Compound Synonyms: (+)-aldosterone … D-aldosterone … Delta-aldosterone … Aldosterone … (3a,5b,11b)-3,11,21-trihydroxy-pregnan-20-one
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SMP0120450
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Adrenal Hyperplasia Type 3 or Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Mus musculus
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 Compound Synonyms: (+)-aldosterone … D-aldosterone … Delta-aldosterone … Aldosterone … (3a,5b,11b)-3,11,21-trihydroxy-pregnan-20-one
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SMP0120861
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Corticosterone Methyl Oxidase II Deficiency (CMO II)
Rattus norvegicus
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 … levels 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: 3a,11b,21-Trihydroxy-20-oxo-5b-pregnan-18-al … Aldosterone … 3a-Hydroxy-5b-pregnane-20-one
Matched Compound Synonyms: (+)-aldosterone … D-aldosterone … Delta-aldosterone … Aldosterone … (3a,5b,11b)-3,11,21-trihydroxy-pregnan-20-one
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SMP0120849
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17-alpha-Hydroxylase Deficiency (CYP17)
Rattus norvegicus
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: 3a,11b,21-Trihydroxy-20-oxo-5b-pregnan-18-al … Aldosterone … 3a-Hydroxy-5b-pregnane-20-one
Matched Compound Synonyms: (+)-aldosterone … D-aldosterone … Delta-aldosterone … Aldosterone … (3a,5b,11b)-3,11,21-trihydroxy-pregnan-20-one
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