MCID: STR018
MIFTS: 33

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 44

Classifications:



External Ids:

Disease Ontology 12 DOID:1701
MeSH 44 D043202
UMLS 70 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 Epinephrine and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include pituitary, cortex and heart, and 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 147)
# Related Disease Score Top Affiliating Genes
1 apparent mineralocorticoid excess 31.8 REN NR3C2 HSD11B2 CYP11B2 CYP11B1
2 lipoid congenital adrenal hyperplasia 30.2 STAR REN POR POMC NR5A1 NR0B1
3 congenital bile acid synthesis defect 11.1
4 3-beta-hydroxysteroid dehydrogenase deficiency 10.4 HSD3B2 CYP21A2
5 aldosterone-producing adenoma 10.4 CYP21A2 CYP11B2
6 quadricuspid aortic valve 10.4 TNXB CYP21A2
7 premenstrual tension 10.4 REN POMC
8 transsexualism 10.4 CYP21A2 CYP17A1
9 testicular leydig cell tumor 10.4 HSD3B1 CYP21A2
10 testicular sex cord-stromal neoplasm 10.4 HSD3B1 CYP11A1
11 autoimmune hepatitis type 2 10.3 CYP21A2 CYP17A1 CYP11A1
12 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.3 CYP21A2 CYP17A1 CYP11A1
13 alopecia, androgenetic, 1 10.3 SHBG CYP21A2
14 hypoaldosteronism 10.3 REN POMC CYP11B2
15 adenohypophysitis 10.3 PRL POMC
16 smith-lemli-opitz syndrome 10.3 STAR CYP17A1 CYP11A1
17 waterhouse-friderichsen syndrome 10.3 POMC MC2R CYP21A2
18 tuberculum sellae meningioma 10.3 PRL POMC
19 adult syndrome 10.3 REN POMC HSD11B2
20 sella turcica neoplasm 10.3 PRL POMC
21 luteoma 10.3 SHBG CYP21A2
22 prolactin producing pituitary tumor 10.3 PRL POMC
23 ovarian serous adenofibroma 10.3 POMC AMH
24 postmenopausal atrophic vaginitis 10.3 SHBG AMH
25 cytochrome p450 oxidoreductase deficiency 10.3 POR POMC CYP21A2 CYP17A1
26 acidophil adenoma 10.3 PRL POMC
27 chromophobe adenoma 10.3 PRL POMC
28 ectopic cushing syndrome 10.3 PRL POMC
29 familial hyperaldosteronism 10.3 CYP11B2 CYP11B1
30 abducens nerve disease 10.3 PRL POMC
31 corticosteroid-binding globulin deficiency 10.3 POMC MC2R HSD11B2
32 tsh producing pituitary tumor 10.3 PRL POMC
33 pituitary infarct 10.3 PRL POMC
34 anuria 10.3 REN NR3C2 HSD11B2
35 primary pigmented nodular adrenocortical disease 10.3 POMC MC2R CYP11B1
36 cortisone reductase deficiency 10.3 POR POMC HSD11B2 CYP21A2
37 hypertensive retinopathy 10.3 REN NR3C2
38 hypothyroidism, congenital, nongoitrous, 4 10.3 PRL POMC
39 acute adrenal insufficiency 10.3 REN POMC CYP21A2 CYP11A1
40 pseudohypoaldosteronism, type i, autosomal dominant 10.3 REN NR3C2
41 precocious puberty, male-limited 10.2 POMC NR0B1 CYP21A2
42 mycetoma 10.2 HSD3B1 CYP17A1
43 hypertensive heart disease 10.2 REN NR3C2 CYP11B2
44 pituitary-dependent cushing's disease 10.2 PRL POMC
45 chronic salpingo-oophoritis 10.2 PRL AMH
46 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 10.2 TNXB POR POMC CYP21A2
47 nonsyndromic disorders of testicular development 10.2 NR5A1 NR0B1
48 sheehan syndrome 10.2 PRL POMC
49 hormone producing pituitary cancer 10.2 PRL POMC
50 benign essential hypertension 10.2 REN PRL POMC

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 9.91 CYP11B1
2 Decreased viability GR00249-S 9.91 CYP17A1 HSD11B2 MC2R NR0B1 STAR
3 Decreased viability GR00381-A-1 9.91 HSD11B2 STAR
4 Decreased viability GR00386-A-1 9.91 HSD3B2 NR3C2 NR5A1 POMC STAR
5 Decreased viability GR00402-S-2 9.91 CYP11B2 MC2R NR5A1 STAR TNXB
6 Reduced mammosphere formation GR00396-S 9.28 CYP11B1 CYP21A2 HSD11B2 HSD3B2 MC2R NR0B1

MGI Mouse Phenotypes related to Steroid Inherited Metabolic Disorder:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.18 CYP11A1 CYP11B1 CYP17A1 CYP21A2 HSD11B2 MC2R
2 cardiovascular system MP:0005385 10.15 CYP11A1 CYP11B1 CYP11B2 CYP17A1 HSD11B2 MC2R
3 growth/size/body region MP:0005378 10.07 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 MC2R
4 endocrine/exocrine gland MP:0005379 10.06 AMH CYP11A1 CYP11B1 CYP11B2 MC2R NR0B1
5 homeostasis/metabolism MP:0005376 10.06 AMH CYP11A1 CYP11B1 CYP11B2 CYP17A1 HSD11B2
6 mortality/aging MP:0010768 9.77 CYP11A1 CYP11B1 CYP17A1 CYP21A2 HSD11B2 MC2R
7 reproductive system MP:0005389 9.32 AMH CYP11A1 CYP11B2 CYP17A1 NR0B1 NR5A1

Drugs & Therapeutics for Steroid Inherited Metabolic Disorder

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

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved Phase 1 51-43-4 5816
2
Racepinephrine Approved Phase 1 329-65-7 838
3
Hydrocortisone Approved, Vet_approved Phase 1 50-23-7 5754
4
Hydrocortisone acetate Approved, Vet_approved Phase 1 50-03-3
5 Hormones Phase 1
6 Epinephryl borate Phase 1
7 Hormone Antagonists Phase 1
8 Anti-Inflammatory Agents Phase 1
9 Hydrocortisone-17-butyrate Phase 1
10 glucocorticoids Phase 1
11 Hydrocortisone 17-butyrate 21-propionate Phase 1
12 Hydrocortisone hemisuccinate 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

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

MalaCards organs/tissues related to Steroid Inherited Metabolic Disorder:

40
Pituitary, Cortex, Heart, Kidney, Thyroid, Adrenal Gland, Ovary

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
13.01 POR POMC CYP21A2 CYP17A1 CYP11B2 CYP11B1
2
Show member pathways
12.7 STAR POMC NR5A1 NR0B1 MC2R HSD3B2
3 11.77 STAR POMC HSD3B2 HSD3B1 CYP21A2 CYP11B1
4
Show member pathways
11.65 POMC MC2R CYP11A1
5
Show member pathways
11.63 NR5A1 NR3C2 NR0B1
6
Show member pathways
11.56 REN NR3C2 CYP11B2
7
Show member pathways
11.44 HSD3B2 HSD3B1 CYP17A1 CYP11B1
8 11.43 STAR HSD3B2 HSD3B1 CYP17A1 CYP11A1
9
Show member pathways
11.38 HSD3B2 HSD3B1 HSD11B2 CYP21A2 CYP17A1 CYP11B2
10
Show member pathways
11.23 STAR POMC HSD3B2 HSD3B1 HSD11B2 CYP21A2
11 11.09 PRL HSD11B2 CYP11A1
12
Show member pathways
10.99 CYP21A2 CYP17A1 CYP11B2 CYP11B1

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 mitochondrial inner membrane GO:0005743 9.65 HSD3B2 HSD3B1 CYP11B2 CYP11B1 CYP11A1
2 mitochondrial intermembrane space GO:0005758 9.5 STAR HSD3B2 HSD3B1
3 endoplasmic reticulum membrane GO:0005789 9.5 POR NR3C2 HSD3B2 HSD3B1 HSD11B2 CYP21A2
4 intracellular membrane-bounded organelle GO:0043231 9.17 POR NR0B1 HSD3B2 HSD3B1 HSD11B2 CYP21A2
5 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 30)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 10.04 TNXB HSD3B1 CYP11B2 CYP11B1 CYP11A1
2 response to drug GO:0042493 9.98 STAR REN POR HSD11B2 AMH
3 oxidation-reduction process GO:0055114 9.97 POR HSD3B2 HSD3B1 HSD11B2 CYP21A2 CYP17A1
4 steroid metabolic process GO:0008202 9.89 HSD3B1 CYP21A2 CYP17A1 CYP11B2 CYP11A1
5 male gonad development GO:0008584 9.86 STAR REN NR5A1 NR0B1
6 cholesterol metabolic process GO:0008203 9.85 STAR CYP11B2 CYP11B1 CYP11A1
7 regulation of blood pressure GO:0008217 9.78 REN POMC CYP11B1
8 sterol metabolic process GO:0016125 9.73 CYP21A2 CYP11B2 CYP11B1 CYP11A1
9 cellular response to peptide hormone stimulus GO:0071375 9.71 POR CYP11B2 CYP11B1 CYP11A1
10 response to corticosterone GO:0051412 9.7 STAR HSD3B2 HSD3B1
11 androgen biosynthetic process GO:0006702 9.69 HSD3B2 HSD3B1 CYP17A1
12 adrenal gland development GO:0030325 9.65 NR5A1 NR0B1
13 sex determination GO:0007530 9.65 NR5A1 NR0B1 AMH
14 gonad development GO:0008406 9.64 NR0B1 AMH
15 estrogen biosynthetic process GO:0006703 9.63 STAR HSD3B1
16 cellular response to potassium ion GO:0035865 9.63 CYP11B2 CYP11B1
17 C21-steroid hormone metabolic process GO:0008207 9.63 HSD3B2 HSD3B1 CYP11A1
18 cellular response to follicle-stimulating hormone stimulus GO:0071372 9.62 STAR POR
19 regulation of steroid biosynthetic process GO:0050810 9.62 STAR NR5A1
20 male sex determination GO:0030238 9.61 NR5A1 NR0B1
21 cellular response to gonadotropin stimulus GO:0071371 9.6 STAR POR
22 glucocorticoid metabolic process GO:0008211 9.59 STAR HSD11B2
23 cortisol biosynthetic process GO:0034651 9.58 CYP11B2 CYP11B1
24 aldosterone biosynthetic process GO:0032342 9.57 CYP11B2 CYP11B1
25 C21-steroid hormone biosynthetic process GO:0006700 9.56 STAR CYP11B2 CYP11B1 CYP11A1
26 steroid biosynthetic process GO:0006694 9.56 STAR HSD3B2 HSD3B1 CYP21A2 CYP17A1 CYP11B2
27 regulation of blood volume by renal aldosterone GO:0002017 9.54 HSD11B2 CYP11B2
28 cortisol metabolic process GO:0034650 9.54 CYP11B2 CYP11B1 CYP11A1
29 mineralocorticoid biosynthetic process GO:0006705 9.46 HSD3B2 HSD3B1 CYP21A2 CYP11B2
30 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 heme binding GO:0020037 9.77 CYP21A2 CYP17A1 CYP11B2 CYP11B1 CYP11A1
3 iron ion binding GO:0005506 9.72 CYP21A2 CYP17A1 CYP11B2 CYP11B1 CYP11A1
4 hormone activity GO:0005179 9.7 PRL POMC AMH
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 9.51 HSD3B2 HSD3B1
8 steroid delta-isomerase activity GO:0004769 9.48 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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