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3-beta-Hydroxysteroid Dehydrogenase Deficiency
smpdb.ca/view/SMP0125804Disease3-beta-hydroxysteroid dehydrogenase (HSD) deficiency is an extremely rare inborn error of metabolism (IEM) and autosomal recessive disorder of the steroidogenesis pathway. It is caused by an defect in the HSD3B2 gene which encodes for th...
Adrenal Hyperplasia Type 5 or Congenital Adrenal Hyperplasia Due to 17 alpha-Hydroxylase Deficiency
smpdb.ca/view/SMP0000372DiseaseThese 2 enzymes catalyze pregnenolone and progesterone to their 17-hydroxy forms in steroidogenesis and mediate three key transformations in cortisol and sex steroid synthesis.
Adrenal Hyperplasia Type 3 or Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
smpdb.ca/view/SMP0000373DiseaseIt also catalyzes hydroxylation of progesterone to 11-deoxycorticosterone (DOC) in the mineralocorticoid pathway on its way from pregnenolone to aldosterone. … A defect in this enzyme results in accumulation of 17-Hydroxyprogesterone, progesterone and 17a-Hydroxypregnenolone, androstenedione, and testosterone; decreased levels of cortexolone, deoxycorticosterone
11-beta-Hydroxylase Deficiency (CYP11B1)
smpdb.ca/view/SMP0000575Disease11-beta-Hydroxylase Deficiency, also called congenital adrenal hyperplasia (CAH), is an autosomal recessive disorder and caused by a defective 11-beta-hydroxylase. 11-beta-hydroxylase catalyzes the conversion of cortexolone into cortisol...
21-Hydroxylase Deficiency (CYP21)
smpdb.ca/view/SMP0000576DiseaseCongenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the steps of biosynthesis of cortisol from cholesterol in the adrenal glands, also known a...
Corticosterone Methyl Oxidase II Deficiency (CMO II)
smpdb.ca/view/SMP0000578DiseaseHowever, since progesterone and 11b-hydroxyprogesterone are both produced and used by other reactions, their levels in the cell are not changed as drastically. … It is caused by a mutation in the cytochrome P450 11B2 gene, whose protein product is responsible for the formation of aldosterone from 18-hydroxycorticosterone (18-OHB), as well as converting progesterone
Corticosterone Methyl Oxidase I Deficiency (CMO I)
smpdb.ca/view/SMP0125801DiseaseCorticosterone methyloxidase type I (CMO-I) deficiency, also known as 18-hydroxylase deficiency or aldosterone deficiency among other names, is a genetic disorder that is autosomally linked and caused by a defective CYP11B2 gene. This ge...
Congenital Lipoid Adrenal Hyperplasia (CLAH) or Lipoid CAH
smpdb.ca/view/SMP0000371DiseaseCongenital 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 enzyme. Cholesterol side-chain cleava...
Corticosterone Methyl Oxidase I Deficiency (CMO I)
smpdb.ca/view/SMP0000577DiseaseCorticosterone methyloxidase type I (CMO-I) deficiency, also known as 18-hydroxylase deficiency or aldosterone deficiency among other names, is a genetic disorder that is autosomally linked and caused by a defective CYP11B2 gene. This ge...
Apparent Mineralocorticoid Excess Syndrome
smpdb.ca/view/SMP0000717DiseaseApparent mineralocorticoid excess (AME), also known as cortisol 11-beta-ketoreductase deficiency, is an extremely rare inborn error of metabolism (IEM) and autosomal recessive disorder of the steroidogenesis pathway. It is caused by a mu...