Page last updated: 2024-09-27

Congenital Errors of Steroid Metabolism

Errors in metabolic processing of STEROIDS resulting from inborn genetic mutations that are inherited or acquired in utero.

Synonyms(4)

Synonym
Steroid Metabolic Diseases, Inborn
Congenital Errors of Steroid Metabolism
Steroid Metabolism, Inborn Errors
Inborn Errors of Steroid Metabolism

Research

Studies (52)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's0 (0.00)12.5806
2000's15 (28.85)18.1394
2010's28 (53.85)28.8240
2020's9 (17.31)9.53
DrugIndicatedRelationship StrengthStudiesTrials
adenine0low10
cytosine0low10
thymine0low10
thyroxine0low10
aldosterone0low20
tetrahydrocortisol0low10
alanine0low10
glutamine0low10
androstenedione0low10
17-alpha-hydroxyprogesterone0low10
pyrroles0medium11
pregnenolone0low10
pyrazines0medium11
chenodeoxycholic acid0low30
dihydrotestosterone0low80
fludrocortisone0low10
ursodeoxycholic acid0low10
glutamic acid0low10
simvastatin0low10
atorvastatin0medium11
lathosterol0low20
pregnanetriol0low10
proline0low10
cholic acid0medium21
lanosterol0low10
acipimox0medium11
cholestanol0low10
phytosterols0low20
glucagon0low10
guanine0low20
leptin0medium21

Protein Targets (353)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
acetylcholinesterase2002
pregnane X receptor1001
SMAD family member 25005
SMAD family member 35005
TDP1 protein110011
GLI family zinc finger 37007
Microtubule-associated protein tau1001
AR protein120012
progesterone receptor5005
glucocorticoid receptor [Homo sapiens]100010
retinoic acid nuclear receptor alpha variant 16006
retinoid X nuclear receptor alpha7007
estrogen-related nuclear receptor alpha110011
farnesoid X nuclear receptor4004
pregnane X nuclear receptor7007
estrogen nuclear receptor alpha110011
G3003
vitamin D (1,25- dihydroxyvitamin D3) receptor7007
arylsulfatase A2002
euchromatic histone-lysine N-methyltransferase 24004
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a8008
activating transcription factor 61001
nuclear receptor subfamily 1, group I, member 23003
chromobox protein homolog 14004
nuclear factor erythroid 2-related factor 2 isoform 18008
geminin9009
survival motor neuron protein isoform d2002
histone acetyltransferase KAT2A isoform 13003
lamin isoform A-delta105005
Voltage-dependent calcium channel gamma-2 subunit4004
Interferon beta4004
HLA class I histocompatibility antigen, B alpha chain 3003
Glucocorticoid receptor0315
Sex hormone-binding globulin0156
Glycine receptor subunit alpha-10202
Corticosteroid-binding globulin0505
Adenosine receptor A30202
Replicase polyprotein 1ab0101
Androgen receptor0617
Alpha-1B adrenergic receptor0202
Glutamate receptor 24217
Glycine receptor subunit beta0202
Glycine receptor subunit alpha-20202
Glycine receptor subunit alpha-30202
Mitogen-activated protein kinase 3 0101
Alpha-1A adrenergic receptor0202
Sodium-dependent dopamine transporter 0202
TAR DNA-binding protein 436006
Inositol hexakisphosphate kinase 13003
cytochrome P450 2C9, partial3003
ATP-dependent phosphofructokinase2002
Fumarate hydratase1001
EWS/FLI fusion protein3003
polyprotein1001
ATP-binding cassette sub-family C member 30202
Multidrug resistance-associated protein 40202
Bile salt export pump0505
Cellular tumor antigen p536006
Hydroxycarboxylic acid receptor 20011
Canalicular multispecific organic anion transporter 10202
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE2002
Chain A, MTA/SAH nucleosidase0101
Chain A, Ribosome-inactivating protein alpha-trichosanthin0011
Chain A, Ricin A chain0011
Chain A, Ribosome-inactivating protein 30011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
RAR-related orphan receptor gamma9009
nuclear receptor subfamily 1, group I, member 35005
cytochrome P450 family 3 subfamily A polypeptide 46006
nuclear factor erythroid 2-related factor 2 isoform 23003
heat shock protein beta-12002
importin subunit beta-1 isoform 12002
snurportin-12002
tumor susceptibility gene 101 protein1001
GTP-binding nuclear protein Ran isoform 12002
Cyclin-dependent kinase 10101
Heat shock protein HSP 90-beta0101
Xanthine dehydrogenase/oxidase0101
Protein mono-ADP-ribosyltransferase PARP150101
Leucine-rich repeat serine/threonine-protein kinase 20202
ATPase family AAA domain-containing protein 52002
Ataxin-22002
Chain A, TYROSYL-DNA PHOSPHODIESTERASE1001
Carbonic anhydrase 10003
Carbonic anhydrase 20003
Alanine racemase, biosynthetic0001
5-hydroxytryptamine receptor 1D0001
Glutamate receptor ionotropic, NMDA 1 0426
Proton-coupled amino acid transporter 10202
Adenosine deaminase0001
Carbonic anhydrase 40001
thyroid hormone receptor beta isoform a3003
Mineralocorticoid receptor 0224
Mineralocorticoid receptor0202
Solute carrier organic anion transporter family member 1A10001
Guanine nucleotide-binding protein G4004
Chain A, HADH2 protein2002
Chain B, HADH2 protein2002
interleukin 82002
Smad32002
aldehyde dehydrogenase 1 family, member A11001
estrogen receptor 2 (ER beta)5005
regulator of G-protein signaling 43003
nonstructural protein 11001
peroxisome proliferator-activated receptor delta7007
peroxisome proliferator activated receptor gamma6006
Histone H2A.x3003
Caspase-73003
Bloom syndrome protein isoform 12002
peripheral myelin protein 22 isoform 12002
potassium voltage-gated channel subfamily H member 2 isoform d2002
caspase-33003
thyroid hormone receptor beta isoform 26006
mitogen-activated protein kinase 11001
nuclear factor NF-kappa-B p105 subunit isoform 11001
DNA polymerase iota isoform a (long)1001
nuclear receptor ROR-gamma isoform 11001
peripheral myelin protein 222002
muscleblind-like protein 1 isoform 11001
neuropeptide S receptor isoform A1001
Beta-glucuronidase0101
Cholinesterase0101
Aromatase0306
Gastrin/cholecystokinin type B receptor0001
Testosterone 17-beta-dehydrogenase 30202
Alpha-synuclein1102
Nuclear receptor ROR-gamma2002
Chain A, Cruzipain1001
caspase 7, apoptosis-related cysteine protease2002
caspase-32002
vitamin D3 receptor isoform VDRA3003
Solute carrier organic anion transporter family member 2B1 0001
3-hydroxy-3-methylglutaryl-coenzyme A reductase0404
ATP-dependent translocase ABCB10202
Insulin receptor 0202
Dipeptidyl peptidase 40101
Prostaglandin G/H synthase 20202
3-hydroxy-3-methylglutaryl-coenzyme A reductase 0202
Histone deacetylase 10101
Histone deacetylase 20101
Solute carrier organic anion transporter family member 1B30001
Histone deacetylase 60101
Broad substrate specificity ATP-binding cassette transporter ABCG20101
Solute carrier organic anion transporter family member 1B10204
Luciferase1001
v-jun sarcoma virus 17 oncogene homolog (avian)4004
Alpha-2A adrenergic receptor0022
Vitamin D3 receptor0336
Alpha-2B adrenergic receptor0022
Alpha-2C adrenergic receptor0022
Retinoic acid receptor RXR-alpha0011
Ileal sodium/bile acid cotransporter0202
Bile acid receptor0011
G-protein coupled bile acid receptor 10145
Bile acid receptor0134
Ubiquitin carboxyl-terminal hydrolase 20202
Phospholipase A20011
Glutamate receptor ionotropic, NMDA 2A 0224
Glutamate receptor ionotropic, NMDA 2B0224
Glutamate receptor ionotropic, NMDA 2C0224
Glutamate receptor ionotropic, NMDA 2D0224
G-protein coupled bile acid receptor 10101
Glutamate receptor ionotropic, NMDA 3B0224
Glutamate receptor ionotropic, NMDA 3A0224
IDH12002
Deoxycytidine kinase0001
Chain A, Sex Hormone-Binding Globulin0011
glp-1 receptor, partial2002
thyrotropin-releasing hormone receptor1001
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a3003
transcriptional regulator ERG isoform 31001
cytochrome P450 3A4 isoform 11001
Gamma-aminobutyric acid receptor subunit pi1001
Plasma kallikrein0101
Progesterone receptor0101
Progesterone receptor0112
Glucocorticoid receptor0101
Sex hormone-binding globulin0101
Androgen receptor0226
Gamma-aminobutyric acid receptor subunit beta-11001
Gamma-aminobutyric acid receptor subunit delta1001
Gamma-aminobutyric acid receptor subunit gamma-21001
Androgen receptor0112
Gamma-aminobutyric acid receptor subunit alpha-51001
Gamma-aminobutyric acid receptor subunit alpha-31001
Gamma-aminobutyric acid receptor subunit gamma-11001
Gamma-aminobutyric acid receptor subunit alpha-21001
Gamma-aminobutyric acid receptor subunit alpha-41001
Gamma-aminobutyric acid receptor subunit gamma-31001
Gamma-aminobutyric acid receptor subunit alpha-61001
Angiotensin-converting enzyme0011
Cannabinoid receptor 20101
Gamma-aminobutyric acid receptor subunit alpha-11001
Gamma-aminobutyric acid receptor subunit beta-31001
Gamma-aminobutyric acid receptor subunit beta-21001
Muscarinic acetylcholine receptor0101
GABA theta subunit1001
Neuropeptide FF receptor 20001
Gamma-aminobutyric acid receptor subunit epsilon1001
ALK tyrosine kinase receptor0101
GALC protein1001
aryl hydrocarbon receptor2002
Chain A, GLUTAMATE RECEPTOR SUBUNIT 20101
Chain A, Glutamate Receptor Subunit 20101
Chain B, Glutamate Receptor Subunit 20101
Chain A, Slr1257 protein0011
Chain A, Glucosamine--fructose-6-phosphate aminotransferase [isomerizing]0101
thioredoxin reductase3003
phosphopantetheinyl transferase1001
GLS protein2002
beta-2 adrenergic receptor1001
peptidyl-prolyl cis-trans isomerase NIMA-interacting 12002
Metabotropic glutamate receptor 80202
Metabotropic glutamate receptor 60113
Glutamate receptor ionotropic, NMDA 2D0101
Excitatory amino acid transporter 40101
Glutamate receptor ionotropic, NMDA 3B0101
Glutathione reductase, mitochondrial0202
Bifunctional aspartokinase/homoserine dehydrogenase 10101
Prothrombin0011
Integrin beta-30011
Integrin alpha-IIb0011
ATP-citrate synthase 0101
Glutamate receptor 10213
Glutamate receptor 30213
Glutamate receptor 40213
Glutamate receptor ionotropic, kainate 10213
Metabotropic glutamate receptor 10112
Metabotropic glutamate receptor 20011
Metabotropic glutamate receptor 30011
Metabotropic glutamate receptor 40112
Metabotropic glutamate receptor 50011
Metabotropic glutamate receptor 60011
Metabotropic glutamate receptor 70011
Glutamate receptor ionotropic, kainate 10112
Metabotropic glutamate receptor 50113
Glutamate receptor ionotropic, kainate 20213
Glutamate receptor 10213
Glutamate receptor 20213
Glutamate receptor 30112
Glutamate receptor ionotropic, kainate 30202
Excitatory amino acid transporter 10203
Excitatory amino acid transporter 20203
Excitatory amino acid transporter 30203
Metabotropic glutamate receptor 80011
Glutamate receptor 40213
Excitatory amino acid transporter 3 0001
Glutamate racemase0001
Metabotropic glutamate receptor 80112
Fatty-acid amide hydrolase 10101
Glutamate receptor ionotropic, kainate 40202
Glutamate carboxypeptidase 20101
Glutamate receptor ionotropic, NMDA 10101
Glutamate receptor ionotropic, NMDA 2A0101
Glutamate receptor ionotropic, kainate 20112
Glutamate receptor ionotropic, kainate 30101
Glutamate receptor ionotropic, NMDA 2B0101
Metabotropic glutamate receptor 10113
Metabotropic glutamate receptor 20113
Metabotropic glutamate receptor 70113
Metabotropic glutamate receptor 30113
Metabotropic glutamate receptor 40113
Glutamate receptor ionotropic, NMDA 2C0101
Glutamate receptor ionotropic, kainate 50101
Carbonic anhydrase-like protein, putative0002
Glutamate receptor ionotropic, kainate 50202
Glutamate racemase0001
Prolyl 4-hydroxylase0101
Glutamate receptor ionotropic, NMDA 3A0101
Alpha-ketoglutarate-dependent dioxygenase FTO0101
Chain A, Glutamine Binding Protein0011
15-lipoxygenase, partial1001
flap endonuclease 11001
histone-lysine N-methyltransferase 2A isoform 2 precursor1001
Neutral amino acid transporter A0202
Asc-type amino acid transporter 10101
Neutral amino acid transporter B(0)0202
Amino acid transporter0202
Purine nucleoside phosphorylase0202
Hypoxanthine-guanine phosphoribosyltransferase0001
Ricin0101
2-amino-4-hydroxy-6-hydroxymethyldihydropteridine pyrophosphokinase0011
Purine nucleoside phosphorylase 0012
Shiga toxin subunit A0101
Guanine deaminase0001
Alpha-crystallin B chain0011
Lanosterol 14-alpha demethylase0001
Peroxisome proliferator-activated receptor alpha1001
Lanosterol 14-alpha demethylase0102
14-alpha sterol demethylase 0001
Chain A, Beta-lactamase3003
hypoxia-inducible factor 1 alpha subunit2002
Glucose-6-phosphate 1-dehydrogenase0101
lethal factor (plasmid)1001
Glutamate 5-kinase0001
Angiotensin-converting enzyme 0101
Chain A, JmjC domain-containing histone demethylation protein 3A1001
Chain A, Ferritin light chain1001
PINK11001
cytochrome P450 2D61001
Parkin1001
bromodomain adjacent to zinc finger domain 2B1001
photoreceptor-specific nuclear receptor0101
serine/threonine-protein kinase PLK12002
urokinase-type plasminogen activator precursor1001
plasminogen precursor1001
urokinase plasminogen activator surface receptor precursor1001
transactivating tegument protein VP16 [Human herpesvirus 1]0101
DNA dC->dU-editing enzyme APOBEC-3G isoform 11001
Nuclear receptor subfamily 4 group A member 20011
Spike glycoprotein1001
3-hydroxy-3-methylglutaryl-coenzyme A reductase0101
Sigma non-opioid intracellular receptor 10101
Thymidine phosphorylase0101
Chain X, Thyroid hormone receptor beta-10011
Chain X, Thyroid hormone receptor beta-10011
USP1 protein, partial1001
apical membrane antigen 1, AMA11001
DNA polymerase eta isoform 11001
DNA polymerase kappa isoform 11001
Solute carrier organic anion transporter family member 1A40001
Nuclear receptor subfamily 1 group I member 20011
Solute carrier organic anion transporter family member 1A50001
Rap guanine nucleotide exchange factor 31001
Transthyretin0102
Thyroid hormone receptor alpha0011
Thyroid hormone receptor beta0011
Proliferating cell nuclear antigen0101
Retinoic acid receptor RXR-alpha0022
UDP-glucuronosyltransferase 1A1 0101
Peroxisome proliferator-activated receptor gamma0022
Malate dehydrogenase, mitochondrial0101
Solute carrier organic anion transporter family member 1A20001
Solute carrier organic anion transporter family member 1A30001
Solute carrier organic anion transporter family member 4C10101
Monocarboxylate transporter 80001
Solute carrier organic anion transporter family member 1C10001
parathyroid hormone/parathyroid hormone-related peptide receptor precursor1001
Sodium/bile acid cotransporter0101
CDGSH iron-sulfur domain-containing protein 10202
M1-family alanyl aminopeptidase0101
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]