MCID: STR018
MIFTS: 30

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 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. Affiliated tissues include cortex, ovary and pituitary, and 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 top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 apparent mineralocorticoid excess 31.6 HSD11B2 REN
2 lipoid congenital adrenal hyperplasia 29.9 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD3B1
3 congenital bile acid synthesis defect 11.0
4 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 10.2 CYP21A2 POMC
5 luteoma 10.2 CYP21A2 STAR
6 3-beta-hydroxysteroid dehydrogenase deficiency 10.2 CYP21A2 HSD3B2
7 transsexualism 10.2 CYP17A1 CYP21A2
8 cholesterol ester storage disease 10.1 CYP11A1 STAR
9 antley-bixler syndrome 10.1 CYP17A1 CYP21A2
10 vesicoureteral reflux 8 10.1 CYP21A2 TNXB
11 corticosteroid-binding globulin deficiency 10.1 HSD11B2 POMC
12 cytochrome p450 oxidoreductase deficiency 10.1 CYP17A1 CYP21A2 POMC
13 persistent fetal circulation syndrome 10.1 HSD11B2 POMC
14 sex differentiation disease 10.1 CYP17A1 CYP21A2 POMC
15 pituitary-dependent cushing's disease 10.1 CYP21A2 POMC
16 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.1 CYP11A1 CYP17A1 CYP21A2
17 mycetoma 10.1 CYP17A1 HSD3B1
18 inappropriate adh syndrome 10.1 POMC REN
19 anuria 10.0 HSD11B2 REN
20 aldosterone-producing adenoma 10.0 CYP11B2 CYP21A2
21 hypoadrenocorticism, familial 10.0 CYP11A1 CYP21A2 POMC STAR
22 familial glucocorticoid deficiency 10.0 POMC REN STAR
23 leydig cell tumor 10.0 CYP11A1 CYP17A1 CYP21A2 STAR
24 hypospadias 10.0 CYP11A1 CYP17A1 HSD3B2
25 premenstrual tension 10.0 POMC REN
26 hypokalemia 10.0 HSD11B2 POMC REN
27 familial hyperaldosteronism 10.0 CYP11B1 CYP11B2
28 hyperandrogenism 10.0 CYP17A1 CYP21A2 HSD3B2 POMC
29 46 xy gonadal dysgenesis 9.9 CYP11A1 STAR
30 ovarian disease 9.9 CYP11A1 REN STAR
31 mineral metabolism disease 9.9 POMC REN
32 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 9.9 CYP11A1 CYP17A1 CYP21A2 POMC STAR
33 acute adrenal insufficiency 9.9 CYP11A1 CYP21A2 POMC REN
34 adrenal cortical hypofunction 9.9 CYP11A1 CYP21A2 POMC REN
35 adrenal cortical adenoma 9.9 CYP11A1 CYP11B1 CYP17A1 CYP21A2 POMC
36 stroke, ischemic 9.9
37 adenoma 9.8 CYP11B2 CYP21A2 HSD11B2 POMC
38 polycystic ovary syndrome 9.8 CYP11A1 CYP17A1 CYP21A2 HSD3B2 STAR
39 pseudohyperkalemia, familial, 2, due to red cell leak 9.8 CYP11B2 CYP21A2 REN
40 hypoaldosteronism 9.8 CYP11B2 POMC REN
41 cell type benign neoplasm 9.8 CYP11B2 POMC REN
42 familial hypertension 9.8 CYP11B2 HSD11B2 REN
43 liddle syndrome 1 9.8 CYP11B2 HSD11B2 REN
44 testicular leydig cell tumor 9.7 CYP11A1 CYP17A1 CYP21A2 HSD3B1 POMC STAR
45 endocrine organ benign neoplasm 9.7 CYP11B1 CYP11B2 POMC REN
46 cortisone reductase deficiency 9.6 CYP11A1 CYP17A1 CYP21A2 HSD11B2 POMC REN
47 hyperaldosteronism, familial, type i 9.6 CYP11B1 CYP11B2 HSD11B2 POMC REN
48 adrenal cortex disease 9.6 CYP11B1 CYP11B2 HSD11B2 POMC REN
49 hypertension, essential 9.6 CYP11B1 CYP11B2 HSD11B2 POMC REN
50 adrenal rest tumor 9.5 CYP11B1 CYP11B2 CYP21A2 HSD3B1 HSD3B2 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 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 9.86 C4B CYP11A1 CYP11B1 CYP11B2 HSD11B2 POMC
2 homeostasis/metabolism MP:0005376 9.85 C4B CYP11A1 CYP11B1 CYP11B2 CYP17A1 HSD11B2
3 mortality/aging MP:0010768 9.61 C4B CYP11A1 CYP11B1 CYP17A1 HSD11B2 POMC
4 renal/urinary system MP:0005367 9.17 C4B CYP11B1 CYP11B2 CYP17A1 HSD11B2 POMC

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

MalaCards organs/tissues related to Steroid Inherited Metabolic Disorder:

41
Cortex, Ovary, Pituitary, Adrenal Gland, Adrenal Cortex

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 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.79 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD11B2
2
Show member pathways
12.96 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 POMC
3
Show member pathways
12.65 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD3B1
4
Show member pathways
12.27 CYP11A1 CYP11B1 CYP17A1 CYP21A2 HSD3B1 HSD3B2
5 11.67 CYP11A1 CYP11B1 CYP21A2 HSD3B1 HSD3B2 POMC
6
Show member pathways
11.6 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD11B2
7
Show member pathways
11.47 CYP11B1 CYP17A1 HSD3B1 HSD3B2
8 11.46 CYP11A1 CYP17A1 HSD3B1 HSD3B2 STAR
9
Show member pathways
11.04 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD11B2
10
Show member pathways
11.03 CYP11B1 CYP11B2 CYP17A1 CYP21A2
11 10.97 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 mitochondrion GO:0005739 9.8 CYP11A1 CYP11B1 CYP11B2 HSD3B1 HSD3B2 STAR
2 endoplasmic reticulum membrane GO:0005789 9.77 CYP17A1 CYP21A2 HSD11B2 HSD3B1 HSD3B2
3 mitochondrial intermembrane space GO:0005758 9.43 HSD3B1 HSD3B2 STAR
4 mitochondrial inner membrane GO:0005743 9.35 CYP11A1 CYP11B1 CYP11B2 HSD3B1 HSD3B2
5 smooth endoplasmic reticulum membrane GO:0030868 9.16 HSD3B1 HSD3B2
6 mitochondrial membrane GO:0031966 8.92 CYP11B1 CYP11B2 HSD3B1 HSD3B2

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 oxidation-reduction process GO:0055114 9.97 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD11B2
2 steroid metabolic process GO:0008202 9.83 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2
3 cholesterol metabolic process GO:0008203 9.78 CYP11A1 CYP11B1 CYP11B2 STAR
4 regulation of blood pressure GO:0008217 9.74 CYP11B1 POMC REN
5 cellular response to peptide hormone stimulus GO:0071375 9.69 CYP11A1 CYP11B1 CYP11B2
6 response to corticosterone GO:0051412 9.67 HSD3B1 HSD3B2 STAR
7 sterol metabolic process GO:0016125 9.65 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2
8 androgen biosynthetic process GO:0006702 9.63 CYP17A1 HSD3B1 HSD3B2
9 C21-steroid hormone biosynthetic process GO:0006700 9.62 CYP11A1 CYP11B1 CYP11B2 STAR
10 response to steroid hormone GO:0048545 9.59 HSD11B2 STAR
11 estrogen biosynthetic process GO:0006703 9.58 HSD3B1 STAR
12 cellular response to potassium ion GO:0035865 9.58 CYP11B1 CYP11B2
13 C21-steroid hormone metabolic process GO:0008207 9.58 CYP11A1 HSD3B1 HSD3B2
14 glucocorticoid metabolic process GO:0008211 9.56 HSD11B2 STAR
15 glucocorticoid biosynthetic process GO:0006704 9.56 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD11B2
16 aldosterone biosynthetic process GO:0032342 9.55 CYP11B1 CYP11B2
17 cortisol biosynthetic process GO:0034651 9.54 CYP11B1 CYP11B2
18 regulation of blood volume by renal aldosterone GO:0002017 9.52 CYP11B2 HSD11B2
19 mineralocorticoid biosynthetic process GO:0006705 9.46 CYP11B2 CYP21A2 HSD3B1 HSD3B2
20 steroid biosynthetic process GO:0006694 9.23 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2 HSD3B1

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 9.65 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2
2 iron ion binding GO:0005506 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 9.51 HSD3B1 HSD3B2
4 steroid binding GO:0005496 9.49 CYP21A2 HSD11B2
5 steroid hydroxylase activity GO:0008395 9.48 CYP11B2 CYP21A2
6 3-beta-hydroxy-delta5-steroid dehydrogenase activity GO:0003854 9.46 HSD3B1 HSD3B2
7 steroid delta-isomerase activity GO:0004769 9.43 HSD3B1 HSD3B2
8 cholesterol dehydrogenase activity GO:0102294 9.4 HSD3B1 HSD3B2
9 corticosterone 18-monooxygenase activity GO:0047783 9.37 CYP11B1 CYP11B2
10 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.35 CYP11A1 CYP11B1 CYP11B2 CYP17A1 CYP21A2
11 steroid 11-beta-monooxygenase activity GO:0004507 9.32 CYP11B1 CYP11B2
12 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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57 OMIM
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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