MCID: STR018
MIFTS: 30

Steroid Inherited Metabolic Disorder

Categories: Genetic diseases, Metabolic diseases
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Aliases & Classifications for Steroid Inherited Metabolic Disorder

MalaCards integrated aliases for Steroid Inherited Metabolic Disorder:

Name: Steroid Inherited Metabolic Disorder 11 14 16
Steroid Metabolism, Inborn Errors 43

Classifications:



External Ids:

Disease Ontology 11 DOID:1701
MeSH 43 D043202
UMLS 71 C1257809

Summaries for Steroid Inherited Metabolic Disorder

Disease Ontology: 11 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 cytochrome p450 oxidoreductase deficiency and apparent mineralocorticoid excess. 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 Metabolism and Metapathway biotransformation Phase I and II. The drugs Racepinephrine and Hydrocortisone succinate have been mentioned in the context of this disorder. Related phenotypes are Reduced mammosphere formation and homeostasis/metabolism

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 173)
# Related Disease Score Top Affiliating Genes
1 cytochrome p450 oxidoreductase deficiency 32.1 POR HSD3B2 CYP21A2 CYP17A1 CYP11B1
2 apparent mineralocorticoid excess 31.8 REN POMC NR3C2 HSD11B2 CYP11B2 CYP11B1
3 lipoid congenital adrenal hyperplasia 29.3 TNXB STAR SHBG REN PRL POR
4 congenital bile acid synthesis defect 11.2
5 schizophrenia 14 10.4 STAR POMC
6 premenstrual tension 10.4 REN POMC
7 medulloadrenal hyperfunction 10.4 POMC AMH
8 central pontine myelinolysis 10.3 REN POMC
9 tuberculous epididymitis 10.3 POMC AMH
10 alopecia, androgenetic, 1 10.3 SHBG CYP21A2
11 acute adrenal insufficiency 10.3 POMC CYP21A2 CYP11A1
12 waterhouse-friderichsen syndrome 10.3 POMC MC2R
13 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 10.3 TNXB CYP21A2
14 ovarian serous adenofibroma 10.3 POMC AMH
15 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.3 CYP21A2 CYP17A1 CYP11A1
16 premature ovarian failure 7 10.3 POMC NR5A1
17 postmenopausal atrophic vaginitis 10.3 SHBG AMH
18 chiasmal syndrome 10.3 PRL POMC
19 precocious puberty, male-limited 10.3 POMC CYP21A2 AMH
20 tuberculum sellae meningioma 10.3 PRL POMC
21 sella turcica neoplasm 10.3 PRL POMC
22 prolactin producing pituitary tumor 10.3 PRL POMC
23 acidophil adenoma 10.3 PRL POMC
24 smith-lemli-opitz syndrome 10.3 STAR CYP17A1 CYP11A1
25 chromophobe adenoma 10.3 PRL POMC
26 hypoaldosteronism 10.3 REN POMC CYP11B2
27 ectopic cushing syndrome 10.3 PRL POMC
28 hyperchlorhidrosis, isolated 10.3 POMC NR3C2
29 aromatase excess syndrome 10.3 SHBG POMC CYP17A1
30 adult syndrome 10.3 REN POMC HSD11B2
31 tsh producing pituitary tumor 10.3 PRL POMC
32 mycetoma 10.3 HSD3B1 CYP17A1
33 malignant secondary hypertension 10.3 STAR REN CYP11B2
34 pituitary infarct 10.3 PRL POMC
35 pseudohypoaldosteronism, type i, autosomal dominant 10.3 REN NR3C2
36 abducens palsy 10.3 PRL POMC
37 inhibited female orgasm 10.3 SHBG PRL
38 hypertensive retinopathy 10.3 REN NR3C2
39 melanotic neurilemmoma 10.3 PRL POMC
40 corticosteroid-binding globulin deficiency 10.3 POMC MC2R HSD11B2
41 chronic salpingo-oophoritis 10.3 PRL AMH
42 sheehan syndrome 10.3 PRL POMC
43 atypical depressive disorder 10.3 POMC NR3C2
44 hypoactive sexual desire disorder 10.3 SHBG PRL
45 gangliocytoma 10.3 PRL POMC
46 hypothalamic disease 10.3 PRL POMC
47 mixed cerebral palsy 10.2 SHBG PRL
48 germinoma 10.2 PRL POMC CYP21A2
49 apnea, obstructive sleep 10.2 REN POMC NR3C2
50 telogen effluvium 10.2 SHBG PRL

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:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.17 AMH CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2
2 no effect GR00402-S-2 10.17 AMH CYP11A1 CYP11B1 CYP17A1 CYP21A2 HSD11B2
3 Reduced mammosphere formation GR00396-S 9.61 CYP11B1 CYP21A2 HSD11B2 HSD3B2 MC2R NR0B1

MGI Mouse Phenotypes related to Steroid Inherited Metabolic Disorder:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.31 AMH CYP11A1 CYP11B1 CYP11B2 CYP17A1 HSD11B2
2 growth/size/body region MP:0005378 10.21 AMH CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2
3 endocrine/exocrine gland MP:0005379 10.06 AMH CYP11A1 CYP11B1 CYP11B2 MC2R NR0B1
4 cardiovascular system MP:0005385 10.03 CYP11A1 CYP11B1 CYP11B2 CYP17A1 HSD11B2 MC2R
5 behavior/neurological MP:0005386 9.97 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD11B2
6 reproductive system MP:0005389 9.7 AMH CYP11A1 CYP11B1 CYP11B2 CYP17A1 NR0B1
7 mortality/aging MP:0010768 9.47 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD11B2

Drugs & Therapeutics for Steroid Inherited Metabolic Disorder

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

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Racepinephrine Approved, Vet_approved Phase 1 51-43-4, 329-65-7 838 5816
2
Hydrocortisone succinate Approved Phase 1 2203-97-6 3643
3
Hydrocortisone acetate Approved, Vet_approved Phase 1 50-03-3
4
Hydrocortisone Approved, Vet_approved Phase 1 50-23-7 3640 5754
5 Epinephryl borate Phase 1
6 Hormones Phase 1
7 Hormone Antagonists Phase 1
8 glucocorticoids Phase 1
9 Anti-Inflammatory Agents Phase 1
10 Hydrocortisone-17-butyrate Phase 1
11 Hydrocortisone 17-butyrate 21-propionate 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 Active, not recruiting NCT03718234 Phase 1 Subcutaneous hydrocortisone;Standard glucocorticoid therapy

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 directly related to Steroid Inherited Metabolic Disorder:

# Pathway Source
1 Defective CYP11B2 causes CMO-1 deficiency Reactome 66

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

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.71 STAR POR POMC HSD3B2 HSD3B1 HSD11B2
2
Show member pathways
12.88 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 POMC
3
Show member pathways
12.63 POMC MC2R CYP21A2 CYP17A1 CYP11B2 CYP11B1
4
Show member pathways
12.59 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 POMC
5
Show member pathways
12.22 STAR POMC HSD3B2 HSD3B1 HSD11B2 CYP21A2
6 11.82 STAR POMC HSD3B2 HSD3B1 CYP21A2 CYP11B1
7
Show member pathways
11.8 NR5A1 NR3C2 NR0B1
8
Show member pathways
11.77 REN NR3C2 CYP11B2
9
Show member pathways
11.59 PRL HSD11B2 CYP11A1
10
Show member pathways
11.51 HSD3B2 HSD3B1 CYP17A1 CYP11B1
11 11.34 STAR HSD3B1 CYP11A1 AMH
12
Show member pathways
11.31 STAR POMC HSD3B2 HSD3B1 HSD11B2 CYP21A2
13 11.3 CYP21A2 CYP17A1 CYP11B2 CYP11B1 CYP11A1
14 10.86 PRL POMC
15 10.7 STAR POR HSD3B2 CYP17A1 CYP11A1
16
Show member pathways
10.46 CYP11A1 CYP11B2 HSD3B1 HSD3B2 POR

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 membrane GO:0005789 9.83 POR NR3C2 HSD3B2 HSD3B1 HSD11B2 CYP21A2
2 smooth endoplasmic reticulum membrane GO:0030868 8.92 HSD3B2 HSD3B1

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 cholesterol metabolic process GO:0008203 10.15 STAR CYP11B2 CYP11B1 CYP11A1
2 sterol metabolic process GO:0016125 10.01 CYP11A1 CYP11B1 CYP11B2 CYP21A2
3 Leydig cell differentiation GO:0033327 9.99 NR5A1 NR0B1 AMH
4 androgen biosynthetic process GO:0006702 9.97 HSD3B2 HSD3B1 CYP17A1
5 cellular response to peptide hormone stimulus GO:0071375 9.97 POR CYP11B2 CYP11B1 CYP11A1
6 lipid metabolic process GO:0006629 9.97 TNXB HSD3B2 HSD3B1 HSD11B2 CYP21A2 CYP17A1
7 C21-steroid hormone biosynthetic process GO:0006700 9.91 CYP11B2 CYP11B1 CYP11A1
8 regulation of steroid biosynthetic process GO:0050810 9.89 STAR NR5A1
9 Sertoli cell differentiation GO:0060008 9.88 NR5A1 NR0B1
10 glucocorticoid metabolic process GO:0008211 9.88 STAR HSD11B2
11 sex determination GO:0007530 9.88 NR5A1 NR0B1 AMH
12 cortisol biosynthetic process GO:0034651 9.87 CYP11B2 CYP11B1
13 aldosterone biosynthetic process GO:0032342 9.86 CYP11B2 CYP11B1
14 cortisol metabolic process GO:0034650 9.86 HSD11B2 CYP11B2 CYP11B1 CYP11A1
15 C21-steroid hormone metabolic process GO:0008207 9.85 HSD3B2 HSD3B1 CYP11A1
16 steroid metabolic process GO:0008202 9.85 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD11B2
17 regulation of blood volume by renal aldosterone GO:0002017 9.84 CYP11B2 HSD11B2
18 mineralocorticoid biosynthetic process GO:0006705 9.83 CYP11B2 CYP21A2
19 glucocorticoid biosynthetic process GO:0006704 9.65 CYP21A2 CYP17A1 CYP11B2 CYP11B1 CYP11A1
20 steroid biosynthetic process GO:0006694 9.44 STAR HSD3B2 HSD3B1 CYP21A2 CYP17A1 CYP11B2

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 10.07 CYP21A2 CYP17A1 CYP11B2 CYP11B1 CYP11A1
2 iron ion binding GO:0005506 10.02 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2
3 lipid binding GO:0008289 9.89 STAR SHBG NR5A1 NR3C2 CYP21A2
4 steroid binding GO:0005496 9.86 SHBG NR3C2 HSD11B2 CYP21A2
5 3-beta-hydroxy-delta5-steroid dehydrogenase activity GO:0003854 9.81 HSD3B2 HSD3B1
6 steroid delta-isomerase activity GO:0004769 9.78 HSD3B2 HSD3B1
7 cholesterol dehydrogenase activity GO:0102294 9.76 HSD3B2 HSD3B1
8 corticosterone 18-monooxygenase activity GO:0047783 9.73 CYP11B2 CYP11B1
9 steroid 11-beta-monooxygenase activity GO:0004507 9.71 CYP11B2 CYP11B1
10 monooxygenase activity GO:0004497 9.55 CYP21A2 CYP17A1 CYP11B2 CYP11B1 CYP11A1
11 oxidoreductase activity GO:0016491 9.36 POR HSD3B2 HSD3B1 HSD11B2 CYP21A2 CYP17A1
12 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.35 CYP21A2 CYP17A1 CYP11B2 CYP11B1 CYP11A1

Sources for Steroid Inherited Metabolic Disorder

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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