Page last updated: 2024-09-27

Adrenal Hyperplasia, Congenital, Due To Cytochrome P450 Oxidoreductase Deficiency

Antley-Bixler Syndrome phenotype with normal genitalia and normal steroidogenesis, and associated with autosomal dominant mutations in FGFR2, the gene for FIBROBLAST GROWTH FACTOR RECEPTOR 2.

Synonyms(15)

Synonym
Antley-Bixler Syndrome Phenotype
Antley-Bixler Syndrome with Disordered Steroidogenesis
Congenital Adrenal Hyperplasia Due To Apparent Combined P450c17 and P450c21 Deficiency
Cytochrome P450 Oxidoreductase Deficiency
Antley-Bixler Syndrome-Like Phenotype With Disordered Steroidogenesis
Osteodysgenesis, Multisynostotic, With Fractures
Adrenal Hyperplasia, Congenital, Due To Cytochrome P450 Oxidoreductase Deficiency
Multisynostotic Osteodysgenesis With Long Bone Fractures
Antley-Bixler Syndrome
Combined Partial Deficiency of 17-Hydroxylase and 21-Hydroxylase
Trapezoidocephaly-Synostosis Syndrome
Antley-Bixler Syndrome, Autosomal Dominant
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Multisynostotic Osteodysgenesis
POR Deficiency

Research Excerpts

Research

Studies (15)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's0 (0.00)12.5806
2000's3 (20.00)18.1394
2010's11 (73.33)28.8240
2020's1 (6.67)9.53
DrugIndicatedRelationship StrengthStudiesTrials
azinphosmethyl0low10
erythrosine0low10
fluconazole0low10
dehydroepiandrosterone0low10
17-alpha-hydroxyprogesterone0low20
chenodeoxycholic acid0low10
dihydrotestosterone0low20
7-ethoxycoumarin0low10
thiacloprid0low10
prizes0low10
cholic acid0low10
lanosterol0low10
dibenzylfluorescein0low10
24,25-dihydrolanosterol0low10
tretinoin0low10
cosyntropin0low10
warfarin0low10

Protein Targets (312)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
acetylcholinesterase6006
pregnane X receptor2002
SMAD family member 24004
SMAD family member 34004
TDP1 protein6006
GLI family zinc finger 38008
Microtubule-associated protein tau3003
AR protein8008
progesterone receptor5005
glucocorticoid receptor [Homo sapiens]8008
retinoic acid nuclear receptor alpha variant 19009
retinoid X nuclear receptor alpha9009
estrogen-related nuclear receptor alpha8008
farnesoid X nuclear receptor7007
pregnane X nuclear receptor8008
estrogen nuclear receptor alpha9009
G4004
vitamin D (1,25- dihydroxyvitamin D3) receptor7007
arylsulfatase A1001
euchromatic histone-lysine N-methyltransferase 23003
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a6006
activating transcription factor 63003
nuclear receptor subfamily 1, group I, member 21001
chromobox protein homolog 16006
nuclear factor erythroid 2-related factor 2 isoform 16006
geminin4004
survival motor neuron protein isoform d2002
histone acetyltransferase KAT2A isoform 14004
lamin isoform A-delta103003
Voltage-dependent calcium channel gamma-2 subunit5005
Interferon beta5005
HLA class I histocompatibility antigen, B alpha chain 4004
Glucocorticoid receptor0304
Sex hormone-binding globulin0134
Glycine receptor subunit alpha-10202
Corticosteroid-binding globulin0303
Adenosine receptor A30404
Replicase polyprotein 1ab0101
Androgen receptor0415
Alpha-1B adrenergic receptor0404
Glutamate receptor 25005
Glycine receptor subunit beta0202
Glycine receptor subunit alpha-20202
Glycine receptor subunit alpha-30202
Mitogen-activated protein kinase 3 0101
Alpha-1A adrenergic receptor0404
Sodium-dependent dopamine transporter 0202
TAR DNA-binding protein 435005
Inositol hexakisphosphate kinase 14004
cytochrome P450 2C9, partial4004
ATP-dependent phosphofructokinase3003
Carbonic anhydrase 120101
Carbonic anhydrase 10101
Carbonic anhydrase 20101
Carbonic anhydrase 30101
Carbonic anhydrase 40101
Carbonic anhydrase 60101
Carbonic anhydrase 5A, mitochondrial0101
Carbonic anhydrase 70101
Carbonic anhydrase 90101
Carbonic anhydrase 150101
Carbonic anhydrase 130101
Carbonic anhydrase 140101
Carbonic anhydrase 5B, mitochondrial0101
Chain A, Putative fructose-1,6-bisphosphate aldolase3003
Chain A, HADH2 protein3003
Chain B, HADH2 protein3003
Chain A, 2-oxoglutarate Oxygenase3003
Chain A, Ferritin light chain2002
Luciferase4004
thioredoxin reductase2002
15-lipoxygenase, partial1001
WRN1001
phosphopantetheinyl transferase3003
RAR-related orphan receptor gamma7007
aldehyde dehydrogenase 1 family, member A13003
thyroid stimulating hormone receptor1001
estrogen receptor 2 (ER beta)4004
hypothetical protein, conserved2002
nuclear receptor subfamily 1, group I, member 33003
regulator of G-protein signaling 42002
peroxisome proliferator-activated receptor delta5005
peroxisome proliferator activated receptor gamma5005
v-jun sarcoma virus 17 oncogene homolog (avian)4004
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 11001
vitamin D3 receptor isoform VDRA4004
thyroid hormone receptor beta isoform a4004
thyroid hormone receptor beta isoform 27007
heat shock protein beta-13003
mitogen-activated protein kinase 11001
serine/threonine-protein kinase PLK11001
DNA polymerase iota isoform a (long)2002
nuclear receptor ROR-gamma isoform 12002
Vpr1001
cytochrome P450 3A4 isoform 14004
Gamma-aminobutyric acid receptor subunit pi4004
Glycoprotein hormones alpha chain1001
Cellular tumor antigen p536006
Gamma-aminobutyric acid receptor subunit beta-14004
Gamma-aminobutyric acid receptor subunit delta4004
Gamma-aminobutyric acid receptor subunit gamma-24004
Gamma-aminobutyric acid receptor subunit alpha-54004
Gamma-aminobutyric acid receptor subunit alpha-34004
Gamma-aminobutyric acid receptor subunit gamma-14004
Gamma-aminobutyric acid receptor subunit alpha-24004
Gamma-aminobutyric acid receptor subunit alpha-44004
Gamma-aminobutyric acid receptor subunit gamma-34004
Gamma-aminobutyric acid receptor subunit alpha-64004
Nuclear receptor ROR-gamma2114
Gamma-aminobutyric acid receptor subunit alpha-14004
Gamma-aminobutyric acid receptor subunit beta-34004
Gamma-aminobutyric acid receptor subunit beta-24004
GABA theta subunit4004
Gamma-aminobutyric acid receptor subunit epsilon4004
caspase 7, apoptosis-related cysteine protease1001
cytochrome P450 family 3 subfamily A polypeptide 45005
caspase-31001
Caspase-72002
caspase-32002
Bile salt export pump0404
Alpha-2A adrenergic receptor0022
Vitamin D3 receptor0224
Alpha-2B adrenergic receptor0022
Alpha-2C adrenergic receptor0022
Retinoic acid receptor RXR-alpha0134
Guanine nucleotide-binding protein G1001
Ileal sodium/bile acid cotransporter0101
Bile acid receptor0011
G-protein coupled bile acid receptor 10145
Bile acid receptor0022
Ubiquitin carboxyl-terminal hydrolase 20101
Phospholipase A20011
Glutamate receptor ionotropic, NMDA 1 0011
Glutamate receptor ionotropic, NMDA 2A 0011
Glutamate receptor ionotropic, NMDA 2B0011
Glutamate receptor ionotropic, NMDA 2C0011
Glutamate receptor ionotropic, NMDA 2D0011
G-protein coupled bile acid receptor 10101
Glutamate receptor ionotropic, NMDA 3B0011
Glutamate receptor ionotropic, NMDA 3A0011
hypoxia-inducible factor 1 alpha subunit2002
cytochrome P450 2D63003
aryl hydrocarbon receptor3003
thyroid stimulating hormone receptor3003
Beta-glucuronidase0101
Beta-glucuronidase0101
Glucose-6-phosphate 1-dehydrogenase0202
Alpha-synuclein1102
Glucose-6-phosphate 1-dehydrogenase 0101
NPC1-like intracellular cholesterol transporter 10011
Chain A, Sex Hormone-Binding Globulin0011
interleukin 81001
glp-1 receptor, partial1001
thyrotropin-releasing hormone receptor3003
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a1001
Histone H2A.x2002
potassium voltage-gated channel subfamily H member 2 isoform d1001
transcriptional regulator ERG isoform 32002
peripheral myelin protein 222002
Plasma kallikrein0101
Progesterone receptor0101
Progesterone receptor0112
Glucocorticoid receptor0101
Mineralocorticoid receptor 0101
Sex hormone-binding globulin0101
Androgen receptor0226
Aromatase0203
Androgen receptor0112
Mineralocorticoid receptor0101
Testosterone 17-beta-dehydrogenase 30101
Angiotensin-converting enzyme0011
Cannabinoid receptor 20101
Muscarinic acetylcholine receptor0101
Neuropeptide FF receptor 20001
ALK tyrosine kinase receptor0101
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE1001
Chain A, TYROSYL-DNA PHOSPHODIESTERASE2002
Chain A, Beta-lactamase3003
Chain A, ATP-DEPENDENT DNA HELICASE Q12002
Genome polyprotein 0112
chaperonin-containing TCP-1 beta subunit homolog1001
ATAD5 protein, partial1001
Fumarate hydratase1001
GLS protein2002
thioredoxin glutathione reductase2002
polyprotein1001
bromodomain adjacent to zinc finger domain 2B2002
Bloom syndrome protein isoform 12002
ubiquitin carboxyl-terminal hydrolase 2 isoform a1001
eyes absent homolog 2 isoform a1001
lethal(3)malignant brain tumor-like protein 1 isoform I1001
DNA polymerase kappa isoform 12002
relaxin receptor 1 isoform 11001
Flavin reductase (NADPH)0011
large T antigen0101
Chain A, BCL-2-RELATED PROTEIN A10011
apical membrane antigen 1, AMA11001
unnamed protein product0101
heat shock protein HSP 90-alpha isoform 20001
bcl-2-like protein 11 isoform 10011
Histone deacetylase 30101
ATP-binding cassette sub-family C member 30202
Multidrug resistance-associated protein 40202
Rap guanine nucleotide exchange factor 31001
Chymotrypsinogen A0101
Beta-lactamase0101
Steroid 17-alpha-hydroxylase/17,20 lyase0101
Heme oxygenase 1 0101
ATP-dependent translocase ABCB10101
ATP-dependent translocase ABCB10101
Cytochrome P450 3A40112
Lanosterol 14-alpha demethylase0113
Cytochrome P450 2C9 0213
Cytochrome P450 11B1, mitochondrial0101
Cytochrome P450 11B2, mitochondrial0101
ATP-dependent translocase ABCB10101
Heme oxygenase 20101
Malate dehydrogenase, cytoplasmic0101
Histone deacetylase 40101
Cytochrome P450 1440011
Steroid C26-monooxygenase0011
Steroid C26-monooxygenase0011
Mycocyclosin synthase0011
Lanosterol 14-alpha demethylase0011
Lanosterol 14-alpha demethylase0011
Histone deacetylase 10101
Lanosterol 14-alpha demethylase0113
Sterol 14-alpha demethylase0011
Sterol 14-alpha demethylase0112
Histone deacetylase 70101
Histone deacetylase 20101
Canalicular multispecific organic anion transporter 10202
Polyamine deacetylase HDAC100101
Histone deacetylase 11 0101
14-alpha sterol demethylase 0012
Histone deacetylase 80101
Histone deacetylase 60101
Histone deacetylase 90101
Histone deacetylase 50101
heat shock protein 90, putative0001
likely tRNA 2'-phosphotransferase0101
Alpha-crystallin B chain0011
Peroxisome proliferator-activated receptor alpha1001
Polyphenol oxidase 20202
Neuronal acetylcholine receptor subunit alpha-40303
Acetylcholine receptor subunit beta-like 20303
Acetylcholine-binding protein0202
Soluble acetylcholine receptor0202
Chain A, Soluble acetylcholine receptor0011
Chain E, Soluble acetylcholine receptor0011
Chain A, Soluble acetylcholine receptor0011
Chain E, Soluble acetylcholine receptor0011
Neuronal acetylcholine receptor subunit alpha-40101
Acetylcholine receptor subunit alpha0101
Neuronal acetylcholine receptor subunit alpha-70101
Chain A, Nuclear Receptor ROR-beta0101
Chain A, Cruzipain1001
USP1 protein, partial1001
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)1001
nonstructural protein 11001
Parkin1001
nuclear factor erythroid 2-related factor 2 isoform 21001
M-phase phosphoprotein 81001
Ornithine decarboxylase0001
Amyloid-beta precursor protein0101
Cytochrome P450 1A20011
Ornithine decarboxylase0001
60 kDa chaperonin0101
Retinoic acid receptor alpha0227
Cytochrome P450 2D60011
60 kDa heat shock protein, mitochondrial0101
Retinoic acid receptor beta0227
Retinoic acid receptor alpha0123
Retinoic acid receptor gamma 0227
Alpha-1A adrenergic receptor0101
Retinoic acid receptor gamma0123
5-hydroxytryptamine receptor 1A0101
Retinoic acid receptor RXR-alpha0224
Retinoic acid receptor beta0123
Cellular retinoic acid-binding protein 20011
Alpha-1D adrenergic receptor0101
Mitogen-activated protein kinase 10101
Retinoic acid receptor RXR-beta0224
Retinoic acid receptor RXR-beta0123
Retinoic acid receptor RXR-gamma0123
Indoleamine 2,3-dioxygenase 10101
Cytochrome P450 2C190011
Nuclear receptor ROR-alpha0101
Cellular retinoic acid-binding protein 10102
5-hydroxytryptamine receptor 2B0202
Retinoic acid receptor RXR-gamma0224
10 kDa heat shock protein, mitochondrial0101
Cellular retinoic acid-binding protein 10011
Peptidyl-prolyl cis-trans isomerase NIMA-interacting 10213
Thiosulfate sulfurtransferase0101
60 kDa chaperonin 0101
10 kDa chaperonin 0101
Indoleamine 2,3-dioxygenase 20101
Nuclear receptor ROR-beta0101
ATPase family AAA domain-containing protein 51001
Ataxin-21001
PPM1D protein1001
EWS/FLI fusion protein1001
parathyroid hormone/parathyroid hormone-related peptide receptor precursor1001
Albumin0011
Albumin0011
Proprotein convertase subtilisin/kexin type 70101
Vitamin K epoxide reductase complex subunit 1-like protein 10101
Vitamin K epoxide reductase complex subunit 10101
Protease 0101
Vitamin K epoxide reductase complex subunit 1-like protein 10101
Vitamin K epoxide reductase complex subunit 1 0202
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]