6.2.b
Disorders of steroid metabolism
- 21-hydroxylase deficiency (Congenital adrenal hyperplasia due to 21-hydroxylase deficiency)
- 11-beta-hydroxylase deficiency (Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency)
- 11-beta-hydroxylase superactivity (Glucocorticoid remediable aldosteronism; familial hyperaldosteronism type 1)
- 3-beta-hydroxysteroid dehydrogenase deficiency (Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency)
- 17-hydroxylase/17,20-lyase deficiency
- Steroidogenic acute regulatory protein deficiency (Lipoid adrenal hyperplasia)
- Cytochrome P450 oxidoreductase deficiency
- Steroid 18-hydroxylase deficiency (Aldosterone synthase deficiency; corticosterone methyloxidase type 1 deficiency)
- Steroid 18-oxidase deficiency (Corticosterone methyloxidase type 2 deficiency)
- Hexose-6-phosphate dehydrogenase deficiency (Cortisone reductase deficiency type 1)
- 11-beta-hydroxysteroid dehydrogenase deficiency (Cortisone reductase deficiency type 2)
- Glucocorticoid receptor deficiency (Glucocorticoid resistance)
- Mineralocorticoid receptor deficiency (Autosomal dominant pseudohypoaldosteronism type 1)
- Mineralocortoid receptor superactivity (Early-onset hypertension with exacerbation in pregnancy)
- ACTH receptor deficiency (Melanocortin-2 receptor deficiency; hereditary glucocorticoid deficiency type 1)
- Melanocortin-2 receptor accessory protein deficiency (Hereditary glucocorticoid deficiency type 2)
- Aromatase deficiency
- Aromatase superactivity
- Estrogen receptor deficiency (Estrogen resistance)
- Estrogen receptor 2 deficiency
- Progesterone receptor deficiency
- Side-chain cleavage enzyme deficiency (Desmolase deficiency)
- 17-beta-hydroxysteroid dehydrogenase deficiency (17-ketosteroid reductase deficiency; male pseudohermaphroditism with gynecomastia)
- 3-alpha-hydroxysteroid dehydrogenase type 3 deficiency
- 11-beta-hydroxysteroid dehydrogenase type 2 deficiency (Apparent mineralocorticoid excess)
- Steroid 5-alpha-reductase 2 deficiency
- Androgen receptor deficiency (Androgen insensitivity syndrome)
- X-linked spinal and bulbar muscular atrophy (Kennedy disease)
- Hydroxysteroid sulfotransferase deficiency (Autosomal recessive congenital ichthyosis type 14)
- Steroid sulfatase deficiency (X-linked ichthyosis)
- Chloride channel 2 superactivity (Familial hyperaldosteronism type 2)
Subnetworks
PM-MD
Disorders of pyruvate metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism
