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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SMP0120650
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3-beta-Hydroxysteroid Dehydrogenase Deficiency
Mus musculus
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 Compound Synonyms: (+)-aldosterone … D-aldosterone … Delta-aldosterone … Aldosterone … (3a,5b,11b)-3,11,21-trihydroxy-pregnan-20-one
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SMP0120642
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Corticosterone Methyl Oxidase II Deficiency (CMO II)
Mus musculus
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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SMP0120630
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17-alpha-Hydroxylase Deficiency (CYP17)
Mus musculus
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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SMP0120859
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21-Hydroxylase Deficiency (CYP21)
Rattus norvegicus
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: 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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SMP0126226
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Dexamethasone Action Pathway
Homo sapiens
Matched Description: administration (tablet, intravenous injections, eye drops, and intramuscular injections) that is … endocrine and rheumatic disorders. This drug is similar in structure to other corticosteroids like … hydrocortisone and prednisolone. As dexamethasone is a glucocorticoid, its mechanism of action is that of … suppression and lipocortin/annexin induction. By binding to the glucocorticoid receptor, it influences … transcription factors AP-1 and NF-kB to block the transcription of COX-2/prostaglandin G/H synthase 2
Matched Compounds: PC(18:0/20:4(5Z,8Z,11Z,14Z))
Matched Compound Synonyms: Pc(18:0/20:4(5z,8z,11z,14z)) … Pc(18:0/20:4) … Pc(18:0/20:4omega6) … Phosphatidylcholine(18:0/20:4) … Phosphatidylcholine(18:0/20:4omega6)
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