MCID: STR018
MIFTS: 31

Steroid Inherited Metabolic Disorder

Categories: Metabolic diseases

Aliases & Classifications for Steroid Inherited Metabolic Disorder

MalaCards integrated aliases for Steroid Inherited Metabolic Disorder:

Name: Steroid Inherited Metabolic Disorder 12 15 17
Steroid Metabolism, Inborn Errors 43

Classifications:



External Ids:

Disease Ontology 12 DOID:1701
MeSH 43 D043202
UMLS 71 C1257809

Summaries for Steroid Inherited Metabolic Disorder

Disease Ontology : 12 A lipid metabolism disorder that involves defects in steroid metabolism.

MalaCards based summary : Steroid Inherited Metabolic Disorder, also known as steroid metabolism, inborn errors, is related to apparent mineralocorticoid excess and lipoid congenital adrenal hyperplasia. An important gene associated with Steroid Inherited Metabolic Disorder is CYP21A2 (Cytochrome P450 Family 21 Subfamily A Member 2), and among its related pathways/superpathways are Cytochrome P450 - arranged by substrate type and Aldosterone synthesis and secretion. The drugs Hydrocortisone and Hydrocortisone acetate have been mentioned in the context of this disorder. Related phenotypes are Decreased viability and Decreased viability

Related Diseases for Steroid Inherited Metabolic Disorder

Diseases related to Steroid Inherited Metabolic Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 150)
# Related Disease Score Top Affiliating Genes
1 apparent mineralocorticoid excess 31.8 REN POMC NR3C2 HSD11B2 CYP11B2 CYP11B1
2 lipoid congenital adrenal hyperplasia 28.9 TNXB STAR SHBG REN PRL POR
3 congenital bile acid synthesis defect 11.2
4 3-beta-hydroxysteroid dehydrogenase deficiency 10.6 HSD3B2 CYP21A2
5 aldosterone-producing adenoma 10.6 CYP21A2 CYP11B2
6 quadricuspid aortic valve 10.5 TNXB CYP21A2
7 acth-independent cushing syndrome 10.5 CYP21A2 CYP11B1
8 testicular leydig cell tumor 10.5 HSD3B1 CYP21A2
9 autoimmune hepatitis type 2 10.5 CYP21A2 CYP17A1 CYP11A1
10 polyendocrinopathy 10.5 CYP17A1 CYP11A1
11 testicular sex cord-stromal neoplasm 10.5 HSD3B1 CYP11A1
12 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.5 CYP21A2 CYP17A1 CYP11A1
13 adenohypophysitis 10.5 PRL POMC
14 freemartinism 10.5 HSD3B2 AMH
15 acth-dependent cushing syndrome 10.5 PRL POMC
16 tuberculum sellae meningioma 10.5 PRL POMC
17 sella turcica neoplasm 10.5 PRL POMC
18 waterhouse-friderichsen syndrome 10.5 POMC MC2R
19 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 10.5 TNXB POMC CYP21A2
20 alopecia, androgenetic, 1 10.5 SHBG CYP21A2
21 hypoaldosteronism 10.5 REN POMC CYP11B2
22 prolactin producing pituitary tumor 10.5 PRL POMC
23 smith-lemli-opitz syndrome 10.4 STAR CYP17A1 CYP11A1
24 postmenopausal atrophic vaginitis 10.4 SHBG AMH
25 chromophobe adenoma 10.4 PRL POMC
26 adult syndrome 10.4 REN POMC HSD11B2
27 inhibited female orgasm 10.4 SHBG PRL
28 transsexualism 10.4 CYP21A2 CYP17A1
29 pituitary infarct 10.4 PRL POMC
30 corticosteroid-binding globulin deficiency 10.4 STAR POMC MC2R
31 mammographic density 10.4 PRL CYP17A1
32 hypothyroidism, congenital, nongoitrous, 4 10.4 PRL POMC
33 cytochrome p450 oxidoreductase deficiency 10.4 POR POMC CYP21A2 CYP17A1
34 chronic salpingo-oophoritis 10.4 PRL AMH
35 ovarian serous adenofibroma 10.4 POMC AMH
36 bronchiectasis 3 10.4 GNRH1 CYP17A1
37 acidophil adenoma 10.4 PRL POMC
38 abducens nerve disease 10.4 PRL POMC
39 cortisone reductase deficiency 10.4 POR POMC HSD11B2 CYP21A2
40 acute adrenal insufficiency 10.4 REN POMC CYP21A2 CYP11A1
41 anuria 10.4 REN NR3C2 HSD11B2
42 mixed gonadal dysgenesis 10.4 NR5A1 CYP21A2 AMH
43 familial hyperaldosteronism 10.4 CYP11B2 CYP11B1
44 diabetes insipidus 10.4 REN PRL POMC
45 hypoactive sexual desire disorder 10.4 SHBG PRL
46 pituitary-dependent cushing's disease 10.4 PRL POMC
47 luteoma 10.4 SHBG GNRH1 CYP21A2
48 sex cord-gonadal stromal tumor 10.4 POMC NR5A1 AMH
49 pseudohypoaldosteronism, type i, autosomal dominant 10.3 REN NR3C2
50 hypertensive heart disease 10.3 REN NR3C2 CYP11B2

Graphical network of the top 20 diseases related to Steroid Inherited Metabolic Disorder:



Diseases related to Steroid Inherited Metabolic Disorder

Symptoms & Phenotypes for Steroid Inherited Metabolic Disorder

GenomeRNAi Phenotypes related to Steroid Inherited Metabolic Disorder according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.89 CYP11B1
2 Decreased viability GR00249-S 9.89 CYP17A1 HSD11B2 MC2R STAR
3 Decreased viability GR00381-A-1 9.89 HSD11B2 STAR
4 Decreased viability GR00386-A-1 9.89 HSD3B2 NR3C2 NR5A1 POMC STAR
5 Decreased viability GR00402-S-2 9.89 CYP11B2 MC2R NR5A1 STAR TNXB
6 Reduced mammosphere formation GR00396-S 9.23 CYP11B1 CYP21A2 HSD11B2 HSD3B2 MC2R NR3C2

MGI Mouse Phenotypes related to Steroid Inherited Metabolic Disorder:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.23 CYP11A1 CYP11B1 CYP17A1 CYP21A2 HSD11B2 MC2R
2 homeostasis/metabolism MP:0005376 10.22 AMH CYP11A1 CYP11B1 CYP11B2 CYP17A1 GNRH1
3 cardiovascular system MP:0005385 10.21 CYP11A1 CYP11B1 CYP11B2 CYP17A1 HSD11B2 MC2R
4 growth/size/body region MP:0005378 10.15 CYP11A1 CYP11B1 CYP11B2 CYP17A1 GNRH1 MC2R
5 endocrine/exocrine gland MP:0005379 10.14 AMH CYP11A1 CYP11B1 CYP11B2 GNRH1 MC2R
6 mortality/aging MP:0010768 10.07 CYP11A1 CYP11B1 CYP17A1 CYP21A2 HSD11B2 MC2R
7 neoplasm MP:0002006 9.63 AMH GNRH1 HSD11B2 POMC PRL TNXB
8 renal/urinary system MP:0005367 9.56 CYP11B1 CYP11B2 GNRH1 HSD11B2 NR3C2 POMC
9 reproductive system MP:0005389 9.32 AMH CYP11A1 CYP11B2 CYP17A1 GNRH1 NR5A1

Drugs & Therapeutics for Steroid Inherited Metabolic Disorder

Drugs for Steroid Inherited Metabolic Disorder (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydrocortisone Approved, Vet_approved Phase 1 50-23-7 5754
2
Hydrocortisone acetate Approved, Vet_approved Phase 1 50-03-3
3 Hormone Antagonists Phase 1
4 Hormones Phase 1
5 Hydrocortisone 17-butyrate 21-propionate Phase 1
6 glucocorticoids Phase 1
7 Hydrocortisone-17-butyrate Phase 1
8 Hydrocortisone hemisuccinate Phase 1
9 Anti-Inflammatory Agents Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Interval Bolus Delivery of Subcutaneous Hydrocortisone Via Infusion Pump in Children With Congenital Adrenal Hyperplasia Recruiting NCT03718234 Phase 1 Subcutaneous hydrocortisone;Standard glucocorticoid therapy
2 A Phase 1, Open-Label, Single-Dose, Sequential Dose-Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NBI-77860 in Adolescent Females With Congenital Adrenal Hyperplasia Withdrawn NCT02349503 Phase 1 NBI-77860;NBI-77860;NBI-77860

Search NIH Clinical Center for Steroid Inherited Metabolic Disorder

Cochrane evidence based reviews: steroid metabolism, inborn errors

Genetic Tests for Steroid Inherited Metabolic Disorder

Anatomical Context for Steroid Inherited Metabolic Disorder

Publications for Steroid Inherited Metabolic Disorder

Variations for Steroid Inherited Metabolic Disorder

Expression for Steroid Inherited Metabolic Disorder

Search GEO for disease gene expression data for Steroid Inherited Metabolic Disorder.

Pathways for Steroid Inherited Metabolic Disorder

Pathways related to Steroid Inherited Metabolic Disorder according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13 POR POMC CYP21A2 CYP17A1 CYP11B2 CYP11B1
2
Show member pathways
12.67 STAR POMC NR5A1 MC2R HSD3B2 HSD3B1
3 11.77 STAR POMC HSD3B2 HSD3B1 CYP21A2 CYP11B1
4
Show member pathways
11.64 POMC MC2R CYP11A1
5
Show member pathways
11.56 REN NR3C2 CYP11B2
6
Show member pathways
11.44 HSD3B2 HSD3B1 CYP17A1 CYP11B1
7 11.43 STAR HSD3B2 HSD3B1 CYP17A1 CYP11A1
8
Show member pathways
11.38 HSD3B2 HSD3B1 HSD11B2 CYP21A2 CYP17A1 CYP11B2
9
Show member pathways
11.27 STAR POMC HSD3B2 HSD3B1 HSD11B2 CYP21A2
10 11.09 PRL HSD11B2 CYP11A1
11
Show member pathways
11.01 CYP21A2 CYP17A1 CYP11B2 CYP11B1
12 10.77 SHBG GNRH1

GO Terms for Steroid Inherited Metabolic Disorder

Cellular components related to Steroid Inherited Metabolic Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.95 POR NR3C2 HSD3B2 HSD3B1 HSD11B2 CYP21A2
2 intracellular membrane-bounded organelle GO:0043231 9.85 POR HSD3B2 HSD3B1 HSD11B2 CYP21A2 CYP17A1
3 mitochondrial inner membrane GO:0005743 9.65 HSD3B2 HSD3B1 CYP11B2 CYP11B1 CYP11A1
4 mitochondrion GO:0005739 9.56 STAR POR HSD3B2 HSD3B1 GNRH1 CYP11B2
5 mitochondrial intermembrane space GO:0005758 9.5 STAR HSD3B2 HSD3B1
6 endoplasmic reticulum membrane GO:0005789 9.17 POR NR3C2 HSD3B2 HSD3B1 HSD11B2 CYP21A2
7 smooth endoplasmic reticulum membrane GO:0030868 9.16 HSD3B2 HSD3B1

Biological processes related to Steroid Inherited Metabolic Disorder according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.97 STAR REN POR HSD11B2 AMH
2 oxidation-reduction process GO:0055114 9.97 POR HSD3B2 HSD3B1 HSD11B2 CYP21A2 CYP17A1
3 steroid metabolic process GO:0008202 9.85 HSD3B1 CYP21A2 CYP17A1 CYP11B2 CYP11A1
4 cholesterol metabolic process GO:0008203 9.83 STAR CYP11B2 CYP11B1 CYP11A1
5 male gonad development GO:0008584 9.82 STAR REN NR5A1
6 female pregnancy GO:0007565 9.81 PRL HSD11B2 GNRH1
7 regulation of blood pressure GO:0008217 9.77 REN POMC CYP11B1
8 sterol metabolic process GO:0016125 9.73 CYP21A2 CYP11B2 CYP11B1 CYP11A1
9 response to steroid hormone GO:0048545 9.72 STAR HSD11B2 GNRH1
10 cellular response to peptide hormone stimulus GO:0071375 9.71 POR CYP11B2 CYP11B1 CYP11A1
11 response to corticosterone GO:0051412 9.69 STAR HSD3B2 HSD3B1
12 C21-steroid hormone metabolic process GO:0008207 9.67 HSD3B2 HSD3B1 CYP11A1
13 androgen biosynthetic process GO:0006702 9.65 HSD3B2 HSD3B1 CYP17A1
14 male sex determination GO:0030238 9.63 NR5A1 GNRH1
15 estrogen biosynthetic process GO:0006703 9.63 STAR HSD3B1
16 cellular response to follicle-stimulating hormone stimulus GO:0071372 9.62 STAR POR
17 cellular response to potassium ion GO:0035865 9.62 CYP11B2 CYP11B1
18 regulation of steroid biosynthetic process GO:0050810 9.61 STAR NR5A1
19 cellular response to gonadotropin stimulus GO:0071371 9.61 STAR POR
20 sex determination GO:0007530 9.6 NR5A1 AMH
21 glucocorticoid metabolic process GO:0008211 9.58 STAR HSD11B2
22 cortisol biosynthetic process GO:0034651 9.57 CYP11B2 CYP11B1
23 aldosterone biosynthetic process GO:0032342 9.56 CYP11B2 CYP11B1
24 C21-steroid hormone biosynthetic process GO:0006700 9.56 STAR CYP11B2 CYP11B1 CYP11A1
25 steroid biosynthetic process GO:0006694 9.56 STAR HSD3B2 HSD3B1 CYP21A2 CYP17A1 CYP11B2
26 regulation of blood volume by renal aldosterone GO:0002017 9.54 HSD11B2 CYP11B2
27 cortisol metabolic process GO:0034650 9.54 CYP11B2 CYP11B1 CYP11A1
28 mineralocorticoid biosynthetic process GO:0006705 9.46 HSD3B2 HSD3B1 CYP21A2 CYP11B2
29 glucocorticoid biosynthetic process GO:0006704 9.23 HSD3B2 HSD3B1 HSD11B2 CYP21A2 CYP17A1 CYP11B2

Molecular functions related to Steroid Inherited Metabolic Disorder according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.89 STAR SHBG NR5A1 NR3C2 CYP21A2
2 hormone activity GO:0005179 9.78 PRL POMC GNRH1 AMH
3 heme binding GO:0020037 9.77 CYP21A2 CYP17A1 CYP11B2 CYP11B1 CYP11A1
4 iron ion binding GO:0005506 9.72 CYP21A2 CYP17A1 CYP11B2 CYP11B1 CYP11A1
5 steroid binding GO:0005496 9.56 SHBG NR3C2 HSD11B2 CYP21A2
6 monooxygenase activity GO:0004497 9.55 CYP21A2 CYP17A1 CYP11B2 CYP11B1 CYP11A1
7 3-beta-hydroxy-delta5-steroid dehydrogenase activity GO:0003854 9.52 HSD3B2 HSD3B1
8 steroid delta-isomerase activity GO:0004769 9.51 HSD3B2 HSD3B1
9 cholesterol dehydrogenase activity GO:0102294 9.46 HSD3B2 HSD3B1
10 corticosterone 18-monooxygenase activity GO:0047783 9.43 CYP11B2 CYP11B1
11 steroid 11-beta-monooxygenase activity GO:0004507 9.4 CYP11B2 CYP11B1
12 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.35 CYP21A2 CYP17A1 CYP11B2 CYP11B1 CYP11A1
13 oxidoreductase activity GO:0016491 9.28 POR HSD3B2 HSD3B1 HSD11B2 CYP21A2 CYP17A1

Sources for Steroid Inherited Metabolic Disorder

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72 UMLS via Orphanet
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