MCID: STR018
MIFTS: 27

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
Steroid Metabolism, Inborn Errors 44

Classifications:



External Ids:

Disease Ontology 12 DOID:1701
MeSH 44 D043202
UMLS 73 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 lipoid congenital adrenal hyperplasia and congenital bile acid synthesis defect. 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. Related phenotypes are Reduced mammosphere formation and cardiovascular system

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 all 47)
# Related Disease Score Top Affiliating Genes
1 lipoid congenital adrenal hyperplasia 27.6 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD3B1
2 congenital bile acid synthesis defect 10.9
3 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 10.7 CYP21A2 POMC
4 luteoma 10.6 CYP21A2 STAR
5 transsexualism 10.5 CYP17A1 CYP21A2
6 3-beta-hydroxysteroid dehydrogenase deficiency 10.5 CYP21A2 HSD3B2
7 familial glucocorticoid deficiency 10.5 POMC STAR
8 vesicoureteral reflux 8 10.5 CYP21A2 TNXB
9 antley-bixler syndrome 10.5 CYP17A1 CYP21A2
10 pituitary-dependent cushing's disease 10.4 CYP21A2 POMC
11 aldosterone-producing adenoma 10.4 CYP11B2 CYP21A2
12 hypoaldosteronism 10.4 CYP11B2 POMC
13 mycetoma 10.3 CYP17A1 HSD3B1
14 cytochrome p450 oxidoreductase deficiency 10.3 CYP17A1 CYP21A2 POMC
15 sex differentiation disease 10.3 CYP17A1 CYP21A2 POMC
16 familial hyperaldosteronism 10.3 CYP11B1 CYP11B2
17 cholesterol ester storage disease 10.2 CYP11A1 STAR
18 adrenal gland hyperfunction 10.2 CYP21A2 POMC
19 acute adrenal insufficiency 10.1 CYP11A1 CYP21A2 POMC
20 adrenal cortical hypofunction 10.1 CYP11A1 CYP21A2 POMC
21 apparent mineralocorticoid excess 10.1 HSD11B2 POMC
22 endocrine organ benign neoplasm 10.1 CYP11B1 CYP11B2 POMC
23 organ system benign neoplasm 10.0 CYP11B1 CYP11B2 POMC
24 corticosteroid-binding globulin deficiency 10.0 HSD11B2 POMC
25 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.0 CYP11A1 CYP17A1 CYP21A2
26 pseudohyperkalemia, familial, 2, due to red cell leak 10.0 CYP11B2 CYP21A2
27 persistent fetal circulation syndrome 10.0 HSD11B2 POMC
28 hyperandrogenism 9.9 CYP17A1 CYP21A2 HSD3B2 POMC
29 hypospadias 9.8 CYP11A1 CYP17A1 HSD3B2
30 hypoadrenocorticism, familial 9.8 CYP11A1 CYP21A2 POMC STAR
31 stroke, ischemic 9.7
32 leydig cell tumor 9.7 CYP11A1 CYP17A1 CYP21A2 STAR
33 46 xy gonadal dysgenesis 9.6 CYP11A1 STAR
34 polycystic ovary syndrome 9.6 CYP11A1 CYP17A1 CYP21A2 HSD3B2
35 adrenal cortical adenoma 9.4 CYP11A1 CYP11B1 CYP17A1 CYP21A2 POMC
36 hyperaldosteronism, familial, type i 9.4 CYP11B1 CYP11B2 HSD11B2 POMC
37 adrenal cortex disease 9.4 CYP11B1 CYP11B2 HSD11B2 POMC
38 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 9.4 CYP11A1 CYP17A1 CYP21A2 POMC STAR
39 adrenal gland disease 9.4 CYP11B1 CYP11B2 HSD11B2 POMC
40 adenoma 9.4 CYP11B2 CYP21A2 HSD11B2 POMC
41 hypertension, essential 9.3 CYP11B1 CYP11B2 HSD11B2 POMC
42 testicular leydig cell tumor 9.0 CYP11A1 CYP17A1 CYP21A2 HSD3B1 POMC STAR
43 adrenal rest tumor 8.9 CYP11B1 CYP11B2 CYP21A2 HSD3B1 HSD3B2 POMC
44 adrenal adenoma 8.8 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 POMC
45 adrenal carcinoma 8.4 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 POMC
46 adrenocortical carcinoma, hereditary 8.4 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 POMC
47 conn's syndrome 8.0 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD11B2

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 Reduced mammosphere formation GR00396-S 9.1 CYP11B1 CYP21A2 HSD11B2 HSD3B2 POMC STAR

MGI Mouse Phenotypes related to Steroid Inherited Metabolic Disorder:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 CYP11B2 HSD11B2 POMC TNXB C4B CYP11A1
2 homeostasis/metabolism MP:0005376 9.61 CYP17A1 HSD11B2 POMC STAR TNXB C4B
3 renal/urinary system MP:0005367 9.1 CYP17A1 HSD11B2 POMC C4B CYP11B1 CYP11B2

Drugs & Therapeutics for Steroid Inherited Metabolic Disorder

Search Clinical Trials , 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.76 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD11B2
2
Show member pathways
12.94 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 POMC
3
Show member pathways
12.77 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD3B1
4 11.67 CYP11A1 CYP11B1 CYP21A2 HSD3B1 HSD3B2 POMC
5
Show member pathways
11.6 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD11B2
6
Show member pathways
11.44 CYP11B1 CYP17A1 HSD3B1 HSD3B2
7 11.41 CYP11A1 CYP17A1 HSD3B1 HSD3B2 STAR
8
Show member pathways
11.04 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD11B2
9
Show member pathways
10.99 CYP11B1 CYP11B2 CYP17A1 CYP21A2
10 10.95 CYP11A1 HSD11B2

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 9.8 CYP17A1 CYP21A2 HSD11B2 HSD3B1 HSD3B2
2 intracellular membrane-bounded organelle GO:0043231 9.77 CYP11A1 CYP11B1 CYP11B2 CYP21A2 HSD11B2
3 mitochondrion GO:0005739 9.7 CYP11A1 CYP11B1 CYP11B2 CYP17A1 HSD3B1 HSD3B2
4 mitochondrial intermembrane space GO:0005758 9.5 HSD3B1 HSD3B2 STAR
5 mitochondrial inner membrane GO:0005743 9.35 CYP11A1 CYP11B1 CYP11B2 HSD3B1 HSD3B2
6 smooth endoplasmic reticulum membrane GO:0030868 9.26 HSD3B1 HSD3B2
7 mitochondrial membrane GO:0031966 9.02 CYP11A1 CYP11B1 CYP11B2 HSD3B1 HSD3B2

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.97 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD11B2
2 steroid metabolic process GO:0008202 9.89 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2
3 cholesterol metabolic process GO:0008203 9.84 CYP11A1 CYP11B1 CYP11B2 STAR
4 cellular response to peptide hormone stimulus GO:0071375 9.72 CYP11A1 CYP11B1 CYP11B2
5 small molecule metabolic process GO:0044281 9.7 CYP11A1 CYP11B1 CYP11B2
6 androgen biosynthetic process GO:0006702 9.69 CYP17A1 HSD3B1 HSD3B2
7 secondary metabolite biosynthetic process GO:0044550 9.65 CYP11A1 CYP11B1 CYP11B2
8 sterol metabolic process GO:0016125 9.65 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2
9 dehydroaustinol biosynthetic process GO:1900563 9.63 CYP11A1 CYP11B1 CYP11B2
10 C21-steroid hormone biosynthetic process GO:0006700 9.62 CYP11A1 CYP11B1 CYP11B2 STAR
11 response to steroid hormone GO:0048545 9.61 HSD11B2 STAR
12 cortisol metabolic process GO:0034650 9.61 CYP11A1 CYP11B1 CYP11B2
13 estrogen biosynthetic process GO:0006703 9.6 HSD3B1 STAR
14 cellular response to potassium ion GO:0035865 9.59 CYP11B1 CYP11B2
15 glucocorticoid metabolic process GO:0008211 9.58 HSD11B2 STAR
16 aldosterone biosynthetic process GO:0032342 9.58 CYP11B1 CYP11B2
17 austinol biosynthetic process GO:1900560 9.58 CYP11A1 CYP11B1 CYP11B2
18 cortisol biosynthetic process GO:0034651 9.57 CYP11B1 CYP11B2
19 regulation of blood volume by renal aldosterone GO:0002017 9.56 CYP11B2 HSD11B2
20 steroid biosynthetic process GO:0006694 9.56 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD3B1
21 mineralocorticoid biosynthetic process GO:0006705 9.46 CYP11B2 CYP21A2 HSD3B1 HSD3B2
22 glucocorticoid biosynthetic process GO:0006704 9.23 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD11B2

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 iron ion binding GO:0005506 9.65 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2
2 heme binding GO:0020037 9.55 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2
3 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor GO:0016616 9.52 HSD3B1 HSD3B2
4 steroid binding GO:0005496 9.51 CYP21A2 HSD11B2
5 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen GO:0016709 9.5 CYP11A1 CYP11B1 CYP11B2
6 steroid hydroxylase activity GO:0008395 9.49 CYP11B2 CYP21A2
7 3-beta-hydroxy-delta5-steroid dehydrogenase activity GO:0003854 9.48 HSD3B1 HSD3B2
8 steroid delta-isomerase activity GO:0004769 9.46 HSD3B1 HSD3B2
9 corticosterone 18-monooxygenase activity GO:0047783 9.43 CYP11B1 CYP11B2
10 steroid 11-beta-monooxygenase activity GO:0004507 9.4 CYP11B1 CYP11B2
11 cholesterol dehydrogenase activity GO:0102294 9.37 HSD3B1 HSD3B2
12 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.35 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2
13 oxidoreductase activity GO:0016491 9.23 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD11B2

Sources for Steroid Inherited Metabolic Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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51 NDF-RT
54 NINDS
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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