MCID: STR018
MIFTS: 37

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 45

Classifications:



External Ids:

Disease Ontology 12 DOID:1701
MeSH 45 D043202
UMLS 74 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 Metabolism and Cytochrome P450 - arranged by substrate type. The drugs Dexamethasone and Hydrocortisone have been mentioned in the context of this disorder. Affiliated tissues include bone, ovary and pituitary, and 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 52)
# Related Disease Score Top Affiliating Genes
1 apparent mineralocorticoid excess 31.6 HSD11B2 REN
2 lipoid congenital adrenal hyperplasia 29.2 CYP11A1 CYP11B1 CYP17A1 CYP21A2 HSD3B1 HSD3B2
3 congenital bile acid synthesis defect 11.1
4 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 10.3 CYP21A2 POMC
5 luteoma 10.3 CYP21A2 STAR
6 transsexualism 10.3 CYP17A1 CYP21A2
7 pituitary-dependent cushing's disease 10.2 CYP21A2 POMC
8 3-beta-hydroxysteroid dehydrogenase deficiency 10.2 CYP21A2 HSD3B2
9 corticosteroid-binding globulin deficiency 10.2 HSD11B2 POMC
10 cholesterol ester storage disease 10.2 CYP11A1 STAR
11 persistent fetal circulation syndrome 10.2 HSD11B2 POMC
12 adenoma 10.1 CYP21A2 HSD11B2 POMC
13 hypoaldosteronism 10.1 POMC REN
14 inappropriate adh syndrome 10.1 POMC REN
15 antley-bixler syndrome 10.1 CYP17A1 CYP21A2 POR
16 mycetoma 10.1 CYP17A1 HSD3B1
17 premenstrual tension 10.0 POMC REN
18 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.0 CYP11A1 CYP17A1 CYP21A2
19 vesicoureteral reflux 8 10.0 CYP21A2 TNXB
20 anuria 10.0 HSD11B2 REN
21 pseudohyperkalemia, familial, 2, due to red cell leak 10.0 CYP21A2 REN
22 mineral metabolism disease 10.0 POMC REN
23 familial glucocorticoid deficiency 10.0 POMC REN STAR
24 familial hypertension 10.0 HSD11B2 REN
25 nemaline myopathy 5 10.0 POR TNXB
26 endocrine organ benign neoplasm 10.0 CYP11B1 POMC REN
27 cytochrome p450 oxidoreductase deficiency 9.9 CYP17A1 CYP21A2 POMC POR
28 hypoadrenocorticism, familial 9.9 CYP11A1 CYP21A2 POMC STAR
29 leydig cell tumor 9.9 CYP11A1 CYP17A1 CYP21A2 STAR
30 hypokalemia 9.9 HSD11B2 POMC REN
31 liddle syndrome 1 9.9 HSD11B2 REN
32 hypospadias 9.9 CYP11A1 CYP17A1 HSD3B2
33 ovarian disease 9.9 CYP11A1 REN STAR
34 46 xy gonadal dysgenesis 9.8 CYP11A1 STAR
35 hyperandrogenism 9.8 CYP17A1 CYP21A2 HSD3B2 POMC
36 acute adrenal insufficiency 9.7 CYP11A1 CYP21A2 POMC REN
37 adrenal cortical hypofunction 9.7 CYP11A1 CYP21A2 POMC REN
38 hyperaldosteronism, familial, type i 9.7 CYP11B1 HSD11B2 POMC REN
39 adrenal cortex disease 9.7 CYP11B1 HSD11B2 POMC REN
40 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 9.7 CYP11A1 CYP17A1 CYP21A2 POMC STAR
41 adrenal cortical adenoma 9.7 CYP11A1 CYP11B1 CYP17A1 CYP21A2 POMC
42 vesicoureteral reflux 1 9.6 REN TNXB
43 hypertension, essential 9.6 CYP11B1 HSD11B2 REN
44 polycystic ovary syndrome 9.6 CYP11A1 CYP17A1 CYP21A2 HSD3B2 STAR
45 adrenal rest tumor 9.6 CYP11B1 CYP21A2 HSD3B1 HSD3B2 POMC
46 adrenal gland disease 9.5 CYP11A1 CYP11B1 HSD11B2 POMC REN
47 testicular leydig cell tumor 9.4 CYP11A1 CYP17A1 CYP21A2 HSD3B1 POMC STAR
48 adrenal adenoma 9.4 CYP11A1 CYP11B1 CYP17A1 CYP21A2 POMC REN
49 adrenocortical carcinoma, hereditary 9.3 CYP11A1 CYP11B1 CYP17A1 CYP21A2 HSD11B2 POMC
50 cortisone reductase deficiency 9.3 CYP11A1 CYP17A1 CYP21A2 HSD11B2 POMC REN

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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.1 CYP11B1 CYP21A2 HSD11B2 HSD3B2 POMC STAR

MGI Mouse Phenotypes related to Steroid Inherited Metabolic Disorder:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.81 CYP11A1 CYP11B1 CYP17A1 HSD11B2 POMC POR
2 cardiovascular system MP:0005385 9.8 CYP11A1 CYP11B1 HSD11B2 POMC POR REN
3 mortality/aging MP:0010768 9.61 CYP11A1 CYP11B1 CYP17A1 HSD11B2 POMC POR
4 renal/urinary system MP:0005367 9.02 CYP11B1 HSD11B2 POMC POR REN

Drugs & Therapeutics for Steroid Inherited Metabolic Disorder

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

(show top 50) (show all 106)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 50-02-2 5743
2
Hydrocortisone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 50-23-7 5754
3
Prednisone Approved, Vet_approved Phase 4,Phase 2,Phase 3 53-03-2 5865
4
Hydrocortisone acetate Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 50-03-3
5
Epinephrine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 51-43-4 5816
6
Racepinephrine Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 329-65-7 838
7
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 1177-87-3
8
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 3 302-25-0
9
Methylprednisolone hemisuccinate Approved Phase 4,Phase 3 2921-57-5
10
Prednisolone Approved, Vet_approved Phase 4,Phase 3 50-24-8 5755
11
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3 83-43-2 6741
12
Cortisone Experimental Phase 4,Phase 2,Not Applicable 53-06-5 222786
13
Prednisolone hemisuccinate Experimental Phase 4,Phase 3 2920-86-7
14 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
15 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Not Applicable
16 Adrenergic alpha-Agonists Phase 4,Phase 1,Phase 2,Not Applicable
17 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
18 glucocorticoids Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
19 Epinephryl borate Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
20 Bronchodilator Agents Phase 4,Phase 1,Phase 2,Not Applicable
21 Adrenergic Agonists Phase 4,Phase 1,Phase 2,Not Applicable
22 Vasoconstrictor Agents Phase 4,Phase 1,Phase 2,Not Applicable
23 Gastrointestinal Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
24 Antiemetics Phase 4,Phase 3,Phase 2,Not Applicable
25 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
26 Hydrocortisone 17-butyrate 21-propionate Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
27 Respiratory System Agents Phase 4,Phase 1,Phase 2,Not Applicable
28 Hydrocortisone-17-butyrate Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
29 Anti-Asthmatic Agents Phase 4,Phase 1,Phase 2,Not Applicable
30 BB 1101 Phase 4,Phase 2,Phase 3,Not Applicable
31 Hydrocortisone hemisuccinate Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
32 Mydriatics Phase 4,Phase 1,Phase 2,Not Applicable
33 Sympathomimetics Phase 4,Phase 1,Phase 2,Not Applicable
34 Adrenergic Agents Phase 4,Phase 1,Phase 2,Not Applicable
35 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
36 Neurotransmitter Agents Phase 4,Phase 1,Phase 2,Not Applicable
37 Adrenergic beta-Agonists Phase 4,Phase 1,Phase 2,Not Applicable
38 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
39 Autonomic Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
40 Methylprednisolone Acetate Phase 4,Phase 3
41 Prednisolone acetate Phase 4,Phase 3
42
Licorice Approved Phase 2, Phase 3,Not Applicable
43
Enoxolone Investigational Phase 2, Phase 3 471-53-4 18526330
44 Mineralocorticoids Phase 2, Phase 3,Not Applicable
45
protease inhibitors Phase 3,Phase 2,Not Applicable
46 HIV Protease Inhibitors Phase 3,Phase 2,Not Applicable
47 Protective Agents Phase 3,Phase 2
48 Neuroprotective Agents Phase 3
49
Simvastatin Approved Phase 2,Not Applicable 79902-63-9 54454
50
Zinc Approved, Investigational Phase 2 7440-66-6 32051

Interventional clinical trials:

(show top 50) (show all 68)
# Name Status NCT ID Phase Drugs
1 Congenital Adrenal Hyperplasia Once Daily Hydrocortisone Treatment Recruiting NCT03760835 Phase 4 Conventional Glucocorticoids (immediate release hydrocortisone, cortisone acetate, prednisone, prednisolone, dexamethasone);Dual release hydrocortisone (plenadren)
2 COrticosteroid in Congenital Adrenal Hyperplasia Unknown status NCT02552251 Phase 2, Phase 3
3 Comparison of Chronocort® With Standard Glucocorticoid Therapy in Patients With Congenital Adrenal Hyperplasia Completed NCT02716818 Phase 3 Chronocort®;standard glucocorticoid therapy
4 The Role of Mineralocorticoid Receptors in Vascular Function Completed NCT00759525 Phase 2, Phase 3 Glycyrrhetic Acid;Placebo
5 A Study of the Efficacy, Safety and Tolerability of Chronocort in Treating CAH Active, not recruiting NCT03062280 Phase 3 Hydrocortisone
6 Open-label Comparison of Chronocort® Versus Standard Glucocorticoid Replacement Therapy Suspended NCT03532022 Phase 3 Chronocort®;Standard Care
7 Ultradian Subcutaneous Hydrocortisone Infusion in Addison Disease and Congenital Adrenal Hyperplasia Unknown status NCT02096510 Phase 1, Phase 2 Solu-Cortef;Cortef
8 Continuous Subcutaneous Hydrocortisone Infusion in Congenital Adrenal Hyperplasia Unknown status NCT01771328 Phase 2 Hydrocortisone;Cortisone acetate
9 Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome Unknown status NCT00004347 Phase 2
10 A Study of ATR-101 for the Treatment of Congenital Adrenal Hyperplasia Completed NCT02804178 Phase 2 ATR-101
11 Comparison of Cortisol Pump With Standard Treatment for Congenital Adrenal Hyperplasia Completed NCT01859312 Phase 2 Hydrocortisone (Solucortef)
12 Pilot Study to Characterize and Examine the Pharmacokinetics and Efficacy of Chronocort® in Adults With CAH Completed NCT01735617 Phase 2 Hydrocortisone Modified Release Capsules
13 Dexamethasone Treatment of Congenital Adrenal Hyperplasia Completed NCT00621985 Phase 2 dexamethasone;Hydrocortisone
14 Comparison of Two Forms of Hydrocortisone in Patients With Congenital Adrenal Hyperplasia Completed NCT00519818 Phase 1, Phase 2 Chronocort;Cortef
15 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
16 Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
17 Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
18 Congenital Adrenal Hyperplasia: Calcium Channels as Therapeutic Targets Completed NCT00000102 Phase 1, Phase 2 Nifedipine
19 Subcutaneous Hydrocortisone Children With Congenital Adrenal Hyperplasia Recruiting NCT03718234 Phase 1, Phase 2 Subcutaneous hydrocortisone;Standard glucocorticoid therapy
20 Study to Evaluate the Safety and Efficacy of SPR001 in Subjects With Classic Congenital Adrenal Hyperplasia Recruiting NCT03687242 Phase 2 SPR001
21 Nevanimibe HCl for the Treatment of Classic CAH Recruiting NCT03669549 Phase 2 Nevanimibe hydrochloride
22 Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NBI-74788 in Adults With Congenital Adrenal Hyperplasia Recruiting NCT03525886 Phase 2 NBI-74788
23 Study of SPR001 in Adults With Classic Congenital Adrenal Hyperplasia Recruiting NCT03257462 Phase 2 SPR001
24 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
25 Three Drug Combination Therapy Versus Conventional Treatment of Children With Congenital Adrenal Hyperplasia Active, not recruiting NCT00001521 Phase 2 Flutamide;Letrozole;Hydrocortisone
26 Androgen Reduction in Congenital Adrenal Hyperplasia Not yet recruiting NCT03548246 Phase 2 Abiraterone acetate;Placebo;Hydrocortisone;Fludrocortisone
27 Smith-Lemli-Opitz Syndrome and Cholic Acid Not yet recruiting NCT03720990 Phase 1, Phase 2 Cholic Acid
28 Novel Treatment for Syndromic Ichthyoses Withdrawn NCT01110642 Phase 2 Lovastatin
29 A Two-part, Study to Compare the Pharmacokinetics and Dose Proportionality of up to 6 Chronocort Formulations Completed NCT03051893 Phase 1 Chronocort
30 An Open Label Study in Healthy Volunteers to Compare Chronocort® to Hydrocortisone Completed NCT03019614 Phase 1 Hydrocortisone;Chronocort
31 A Study Examining Doses of Abiraterone Acetate in Adult Women With 21-Hydroxylase Deficiency Completed NCT01495910 Phase 1 Abiraterone acetate
32 Androgen Reduction in Congenital Adrenal Hyperplasia, Phase 1 Recruiting NCT02574910 Phase 1 Abiraterone acetate
33 Safety, Pharmacokinetics and Pharmacodynamics of NBI-77860 in Adolescent Females With Congenital Adrenal Hyperplasia Withdrawn NCT02349503 Phase 1 NBI-77860;NBI-77860;NBI-77860
34 Adult Height Prediction in Congenital Adrenal Hyperplasia Unknown status NCT03162159
35 Mutations of Glucocorticoid Receptor in Bilateral Adrenal Hyperplasia Unknown status NCT02810496 Not Applicable
36 Adrenocortical Functions in Women With Nonclassical 21-hydroxylase Deficiency. Unknown status NCT01862380 Not Applicable
37 SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Unknown status NCT01434745 Not Applicable Simvastatin
38 Role of the Protein Osteoprotegerin in the Bone Health of Women With Congenital Adrenal Hyperplasia Unknown status NCT00694525
39 Determining the Long-Term Effects of Prenatal Dexamethasone Treatment in Children With 21-Hydroxylase Deficiency and Their Mothers Unknown status NCT00617292
40 Mutation Analysis of 17α-Hydroxylase Unknown status NCT00172510
41 National Registry for Ichthyosis and Related Disorders Unknown status NCT00074685
42 An Investigation Into the Effect of Liquorice Ingestion on the Salivary Cortisol to Cortisone Molar Ratio Completed NCT02939144 Not Applicable
43 Growth Hormone (GH) in Congenital Adrenal Hyperplasia Completed NCT03162172
44 Decision Support for Parents Receiving Information About Child's Rare Disease Completed NCT01875640
45 Cardiovascular Risk Profile in Patients With Congenital Adrenal Hyperplasia Completed NCT01807364
46 Clinical Evaluation of NeoPlex4 Assay and NeoPlex System Completed NCT01488721
47 Tweens to Teens Project at Penn State Completed NCT01184651
48 Adrenal Hyperplasia Among Young People With PCOS Completed NCT01313455
49 Examining Genetic Differences Among People With 21-Hydroxylase Deficiency Completed NCT00542841 Not Applicable
50 Study of UK Adults With Congenital Adrenal Hyperplasia. Completed NCT00749593

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:

42
Bone, Ovary, Pituitary, Cortex, Adrenal Cortex, Adrenal Gland

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.78 CYP11A1 CYP11B1 CYP17A1 CYP21A2 HSD11B2 HSD3B1
2
Show member pathways
12.93 CYP11A1 CYP11B1 CYP17A1 CYP21A2 POMC POR
3
Show member pathways
12.72 CYP11A1 CYP11B1 CYP17A1 CYP21A2 HSD3B1 HSD3B2
4 11.67 CYP11A1 CYP11B1 CYP21A2 HSD3B1 HSD3B2 POMC
5 11.41 CYP11A1 CYP17A1 HSD3B1 HSD3B2 STAR
6
Show member pathways
11.4 CYP11B1 CYP17A1 HSD3B1 HSD3B2
7
Show member pathways
11.32 CYP11A1 CYP11B1 CYP17A1 CYP21A2 HSD11B2 HSD3B1
8
Show member pathways
11.22 CYP11A1 CYP11B1 CYP17A1 CYP21A2 HSD11B2 HSD3B1
9 10.95 CYP11A1 HSD11B2
10
Show member pathways
10.92 CYP11B1 CYP17A1 CYP21A2

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 mitochondrion GO:0005739 9.85 CYP11A1 CYP11B1 HSD3B1 HSD3B2 POR STAR
2 endoplasmic reticulum GO:0005783 9.8 CYP17A1 CYP21A2 HSD11B2 HSD3B1 HSD3B2 POR
3 mitochondrial inner membrane GO:0005743 9.71 CYP11A1 CYP11B1 HSD3B1 HSD3B2
4 intracellular membrane-bounded organelle GO:0043231 9.65 CYP21A2 HSD11B2 HSD3B1 HSD3B2 POR
5 mitochondrial membrane GO:0031966 9.61 CYP11B1 HSD3B1 HSD3B2
6 mitochondrial intermembrane space GO:0005758 9.33 HSD3B1 HSD3B2 STAR
7 endoplasmic reticulum membrane GO:0005789 9.1 CYP17A1 CYP21A2 HSD11B2 HSD3B1 HSD3B2 POR
8 smooth endoplasmic reticulum membrane GO:0030868 8.96 HSD3B1 HSD3B2

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.86 HSD11B2 POR REN STAR
2 steroid metabolic process GO:0008202 9.8 CYP11A1 CYP11B1 CYP17A1 CYP21A2
3 oxidation-reduction process GO:0055114 9.76 CYP11A1 CYP11B1 CYP17A1 CYP21A2 HSD11B2 HSD3B1
4 cholesterol metabolic process GO:0008203 9.72 CYP11A1 CYP11B1 STAR
5 regulation of blood pressure GO:0008217 9.7 CYP11B1 POMC REN
6 cellular response to peptide hormone stimulus GO:0071375 9.65 CYP11A1 CYP11B1 POR
7 response to corticosterone GO:0051412 9.63 HSD3B1 HSD3B2 STAR
8 C21-steroid hormone biosynthetic process GO:0006700 9.61 CYP11A1 CYP11B1 STAR
9 response to steroid hormone GO:0048545 9.58 HSD11B2 STAR
10 estrogen biosynthetic process GO:0006703 9.58 HSD3B1 STAR
11 androgen biosynthetic process GO:0006702 9.58 CYP17A1 HSD3B1 HSD3B2
12 cellular response to follicle-stimulating hormone stimulus GO:0071372 9.57 POR STAR
13 cellular response to gonadotropin stimulus GO:0071371 9.54 POR STAR
14 C21-steroid hormone metabolic process GO:0008207 9.54 CYP11A1 HSD3B1 HSD3B2
15 glucocorticoid metabolic process GO:0008211 9.51 HSD11B2 STAR
16 mineralocorticoid biosynthetic process GO:0006705 9.5 CYP21A2 HSD3B1 HSD3B2
17 steroid biosynthetic process GO:0006694 9.5 CYP11A1 CYP11B1 CYP17A1 CYP21A2 HSD3B1 HSD3B2
18 sterol metabolic process GO:0016125 9.43 CYP11A1 CYP11B1 CYP21A2
19 glucocorticoid biosynthetic process GO:0006704 9.17 CYP11A1 CYP11B1 CYP17A1 CYP21A2 HSD11B2 HSD3B1

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

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.62 CYP11A1 CYP11B1 CYP17A1 CYP21A2
2 iron ion binding GO:0005506 9.56 CYP11A1 CYP11B1 CYP17A1 CYP21A2
3 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor GO:0016616 9.46 HSD3B1 HSD3B2
4 steroid binding GO:0005496 9.43 CYP21A2 HSD11B2
5 3-beta-hydroxy-delta5-steroid dehydrogenase activity GO:0003854 9.4 HSD3B1 HSD3B2
6 steroid delta-isomerase activity GO:0004769 9.37 HSD3B1 HSD3B2
7 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.26 CYP11A1 CYP11B1 CYP17A1 CYP21A2
8 oxidoreductase activity GO:0016491 9.23 CYP11A1 CYP11B1 CYP17A1 CYP21A2 HSD11B2 HSD3B1
9 cholesterol dehydrogenase activity GO:0102294 9.16 HSD3B1 HSD3B2

Sources for Steroid Inherited Metabolic Disorder

3 CDC
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10 dbSNP
11 DGIdb
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35 ICD10 via Orphanet
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59 OMIM via Orphanet
63 PubMed
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70 SNOMED-CT via HPO
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