CYP11B1

Summary

CYP11B1 (cytochrome P450 family 11 subfamily B member 1, HGNC:2591) is a protein-coding gene on chromosome 8q24.3, encoding Cytochrome P450 11B1, mitochondrial (P15538). A cytochrome P450 monooxygenase involved in the biosynthesis of adrenal corticoids.

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene.

Source: NCBI Gene 1584 — RefSeq curated summary.

At a glance

• Gene–disease (curated): congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (Definitive, GenCC) — +1 more curated relationship
• GWAS associations: 4
• Clinical variants (ClinVar): 828 total — 62 pathogenic, 52 likely-pathogenic
• Phenotypes (HPO): 64
• Druggable target: yes — 13 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_000497

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2591
Approved symbol	CYP11B1
Name	cytochrome P450 family 11 subfamily B member 1
Location	8q24.3
Locus type	gene with protein product
Status	Approved
Aliases	P450C11, FHI, CPN1
Ensembl gene	ENSG00000160882
Ensembl biotype	protein_coding
OMIM	610613
Entrez	1584

Gene structure

Transcript identifiers

Ensembl transcripts: 31 — 30 protein_coding, 1 retained_intron

ENST00000292427, ENST00000314111, ENST00000377675, ENST00000517471, ENST00000519285, ENST00000964953, ENST00000964954, ENST00000964955, ENST00000964956, ENST00000964957, ENST00000964958, ENST00000964959, ENST00000964960, ENST00000964961, ENST00000964962, ENST00000964963, ENST00000964964, ENST00000964965, ENST00000964966, ENST00000964967, ENST00000964968, ENST00000964969, ENST00000964970, ENST00000964971, ENST00000964972, ENST00000964973, ENST00000964974, ENST00000964975, ENST00000964976, ENST00000964977, ENST00000964978

RefSeq mRNA: 2 — MANE Select: NM_000497 NM_000497, NM_001026213

CCDS: CCDS34953, CCDS6392

Canonical transcript exons

ENST00000292427 — 9 exons

Exon	Start	End
ENSE00001055176	142874957	142875154
ENSE00001634469	142876241	142876395
ENSE00001795792	142875712	142875878
ENSE00003478908	142879575	142879825
ENSE00003506485	142879032	142879187
ENSE00003547572	142875234	142875312
ENSE00003555911	142877023	142877222
ENSE00003581483	142876682	142876885
ENSE00003900011	142872357	142874486

Expression profiles

Bgee: expression breadth ubiquitous, 137 present calls, max score 99.96.

Top tissues by expression

283 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right adrenal gland cortex	UBERON:0035827	99.96	gold quality
right adrenal gland	UBERON:0001233	99.94	gold quality
left adrenal gland	UBERON:0001234	99.92	gold quality
adrenal cortex	UBERON:0001235	99.92	gold quality
left adrenal gland cortex	UBERON:0035825	99.91	gold quality
adrenal tissue	UBERON:0018303	99.68	gold quality
adrenal gland	UBERON:0002369	98.20	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.94	gold quality
pancreatic ductal cell	CL:0002079	70.66	gold quality
right testis	UBERON:0004534	65.71	gold quality
right coronary artery	UBERON:0001625	65.31	gold quality
left testis	UBERON:0004533	64.16	gold quality
endometrium epithelium	UBERON:0004811	63.58	gold quality
metanephros	UBERON:0000081	62.95	gold quality
metanephros cortex	UBERON:0010533	62.27	gold quality
frontal pole	UBERON:0002795	61.99	gold quality
middle frontal gyrus	UBERON:0002702	61.95	gold quality
testis	UBERON:0000473	61.87	gold quality
paraflocculus	UBERON:0005351	61.54	gold quality
ectocervix	UBERON:0012249	61.51	gold quality
lower esophagus mucosa	UBERON:0035834	60.27	gold quality
tibialis anterior	UBERON:0001385	60.22	silver quality
right uterine tube	UBERON:0001302	59.46	gold quality
decidua	UBERON:0002450	58.44	gold quality
endocervix	UBERON:0000458	56.91	gold quality
sperm	CL:0000019	55.75	gold quality
body of pancreas	UBERON:0001150	55.59	gold quality
male germ cell	CL:0000015	55.54	gold quality
ileal mucosa	UBERON:0000331	55.12	gold quality
left uterine tube	UBERON:0001303	54.80	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.47

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AP1, AR, ATF1, ATF2, CREB1, FOS, FOSL2, JUN, JUND, NR2F1, NR5A1, NR5A2, PITX1, PREB, REST, SSRP1, TCF3

miRNA regulators (miRDB)

75 targeting CYP11B1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-4648	99.91	67.00	710
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6079	99.84	68.54	1170
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-1303	99.65	69.77	1662
HSA-MIR-4666B	99.64	68.69	1282
HSA-MIR-3975	99.62	65.97	697
HSA-MIR-6716-5P	99.56	68.62	1244
HSA-MIR-451B	99.55	68.28	1380
HSA-MIR-549A-3P	99.54	68.17	825
HSA-MIR-4489	99.50	65.56	785
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-3140-5P	99.39	69.04	1136
HSA-MIR-940	99.37	66.14	2064

Literature-anchored findings (GeneRIF, showing 40)

• role in familial hyperaldosteronism (PMID:11903322)
• Differential regulation of aldosterone synthase and 11beta-hydroxylase transcription by steroidogenic factor-1 (PMID:11932209)
• novel nonsense mutation that converts codon 265 CAG (glutamine) to TAG (stop) of exon 4; patient suffers from complete loss of the final step in cortisol biosynthesis pathway because of the nonsense mutation (PMID:14682466)
• Molecular variant in CYP11B2 is in linkage disequilibrium (LD) with a key quantitative trait in CYP11B1. (PMID:15507509)
• Linkage disequilibrium between causative CYP11B1 variants and CYP11B2 polymorphisms account for urinary 11-deoxycortisol excretion. (PMID:15522937)
• Mutations are associated with congenital adrenal hyperplasia. (PMID:15699546)
• DNA analysis of the gene (CYP11B1) encoding 11beta-hydroxylase was used in the prenatal diagnosis of 11beta-hydroxylase deficiency, and prenatal dexamethasone treatment was successful in preventing virilization in one affected female fetus. (PMID:15751602)
• L299P mutation causes a change in the position of the I helix relative to the heme group, whereas the DeltaF438 mutation results in a steric disarrangement of the heme group relative to the enzyme giving rise sto congenital adrenal hyperplasia. (PMID:15755848)
• Micro-satellite polymorphism (tttta)n of gene CYP11 alpha exists in Chinese women and the polymorphism does not relate to the pathogenesis of hyperandrogenism in women with polycystic ovary syndrome. (PMID:15793791)
• PCB126 up-regulates steroidogenic CYP11B1 and CYP11B2 mRNA expression not via AhR-mediated transcriptional activation but by increasing posttranscriptional mRNA stability (PMID:16396990)
• Aldosterone synthesis is highly heritable and is affected by genotype at CYP11B1. (PMID:16984984)
• Impaired 11beta-hydroxylase efficiency associated previously with the CYP11B2 -344 and intron conversion variants is because of linkage with these newly identified polymorphisms in CYP11B1. (PMID:17075029)
• no variants were identified in the coding region of CYP11B1 that could account for hypertension and/or a raised aldosterone to renin ratio; however study identifies the importance of these affected residues to enzyme function (PMID:17121536)
• homozygous R448C mutations were detected in 2 individuals with 11beta-hydroxylase deficiency in a Turkish kindred (PMID:17556864)
• Hypertensives homozygous for the -344 T allele of CYP11B2 demonstrate altered 11beta-hydroxylase efficiency (CYP11B1); this is consistent with the hypothesis of a genetically determined increase in adrenal ACTH drive in these subjects. (PMID:17651452)
• Results clearly demonstrate that the enzyme is capable of hydroxylating its substrates at position 11-beta. (PMID:18215163)
• Congenital adrenal hyperplasia due to steroid 11beta-hydroxylase deficiency is a genetic disorder of steroidogenesis, transmitted as an autosomal recessive trait. (PMID:18294861)
• Development of an in vivo detection system of adrenal Cyp11B enzymes by [(123)I]IMTO scintigraphy in both experimental animals and humans. (PMID:18397978)
• Congenital adrenal hyperplasia is caused by genetic mutations of CYP11B1, and types of the mutations are varied. (PMID:18661760)
• A homozygous L299P mutation of the CYP11B1 gene was detected. In vitro expression studies performed in HCT116 cells showed a markedly decreased CYP11B1 activity in the L299P mutant. (PMID:18663314)
• The opposing effects of SF-1 on CYP11B1 and CYP11B2 suggest that the regulation of SF-1 activity may play a role that determines the relative ability to produce mineralocorticoid and glucocorticoid. (PMID:18974272)
• a severe phenotype of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. (PMID:19567537)
• CYP11B1 gene is associated wth autistic traits, empathy and Asperger syndrome. (PMID:19598235)
• Both novel mutations are disease-causing mutations. (PMID:19844114)
• Functional analysis results allow for the classification of novel CYP11B1 mutations as causative for classic and nonclassic 11OHD, respectively. (PMID:20089618)
• in 15 unrelated Tunisian patients with classical 11beta-hydroxylase deficiency, only 2 mutations were detected in homozygous state in the CYP11B1 gene, the p.Q356X in exon 6 (26.6%) and the novel p.G379V in exon 7 with large prevalence (73.3%) (PMID:20331679)
• there was a significant association between polymorphisms in the CYP11B2 and CYP11B1 genes and a genetic predisposition to idiopathic hyperaldosteronism. (PMID:20339375)
• Each CYP11B1 mutation is new and private, contrasting with the high incidence of two Tunisian mutations. (PMID:20523022)
• Results describe an unprecedented case of unequal cross-over mutation for the chimeric CYP11B1/CYP11B2 gene causing familial hyperaldosteronism-I, which may be linked to a polymorphism in the index case’s father germ line. (PMID:20634641)
• Aldosterone-producing adenoma patients were genotyped for rs6410 (G22 5A)& rs6387 (A2803G). DNA polymorphisms at CYP11B2/B1 locus may confer susceptibility to postoperative hypertension of patients with APA. (PMID:20708777)
• The chimeric gene CYP11B1/CYP11B2 (crossover to be located between intron 2 of CYP11B1 and exon 3 of CYP11B2) cause Glucocorticoid-remediable aldosteronism. (CTP11B1) (PMID:20808686)
• A novel missense mutation (p.R454C) in the CYP11B1 gene was identified (PMID:20947076)
• Importance of adrenal steroid synthesis in the development of hypertension and cardiovascular dysfunction as well as the role of common polymorphisms in adrenal synthetic genes in altering corticosteroid biosynthesis. (PMID:21164264)
• a definitive diagnosis of glucocorticoid-remediable aldosteronism can only be obtained by identification of the CYP11B1/CYP11B2 chimeric gene (PMID:21625068)
• CYP11B1 is overexpressed in subclinical cortisol-producing adenomas and its overexpression accounts for the increased production of cortisol (PMID:21848792)
• We describe a family with an atypical CYP11B1/CYP11B2 gene inheritance pattern and variable phenotypic expression, where the majority of pediatric patients have primary aldosteronism. (PMID:22083159)
• Both CMO I/CYP11B1 and CMO II/CYP11B2 (expressed as recombinant proteins in COS-7 cells) exhibit steroid 11-beta-hydroxylase activity, but only CMO II/CYP11B2 exhibits steroid 18-hydroxylase activity to form aldosterone. [REVIEW] (PMID:22217843)
• Mutations in the CYP11B1 gene is associated with congenital adrenal hyperplasia. (PMID:22921894)
• CYP11B1 gene mutations were identified in nine patients, with a prevalent (p.R454C) and three novel mutations (p.V148G, IVS7-9C>A, c.1359_1360insG). (PMID:22964742)
• Identification and functional characterization of a large deletion of the CYP11B1 gene causing an 11beta-Hydroxylase deficiency. (PMID:23146819)

Cross-species orthologs

0 orthologs

Paralogs (2): CYP11A1 (ENSG00000140459), CYP11B2 (ENSG00000179142)

Protein

Protein identifiers

Cytochrome P450 11B1, mitochondrial — P15538 (reviewed: P15538)

Alternative names: CYPXIB1, Cytochrome P-450c11, Steroid 11-beta-hydroxylase, CYP11B1

All UniProt accessions (3): P15538, H0YBR4, Q4VAR0

UniProt curated annotations — full annotation on UniProt →

Function. A cytochrome P450 monooxygenase involved in the biosynthesis of adrenal corticoids. Catalyzes a variety of reactions that are essential for many species, including detoxification, defense, and the formation of endogenous chemicals like steroid hormones. Steroid 11beta, 18- and 19-hydroxylase with preferred regioselectivity at 11beta, then 18, and lastly 19. Catalyzes the hydroxylation of 11-deoxycortisol and 11-deoxycorticosterone (21-hydroxyprogesterone) at 11beta position, yielding cortisol or corticosterone, respectively, but cannot produce aldosterone. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate for hydroxylation and reducing the second into a water molecule. Two electrons are provided by NADPH via a two-protein mitochondrial transfer system comprising flavoprotein FDXR (adrenodoxin/ferredoxin reductase) and nonheme iron-sulfur protein FDX1 or FDX2 (adrenodoxin/ferredoxin). Due to its lack of 18-oxidation activity, it is incapable of generating aldosterone. Could also be involved in the androgen metabolic pathway.

Subcellular location. Mitochondrion inner membrane.

Tissue specificity. Expressed in the zona fasciculata/reticularis of the adrenal cortex.

Disease relevance. Adrenal hyperplasia 4 (AH4) [MIM:202010] A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: ‘salt wasting’ (SW, the most severe type), ‘simple virilizing’ (SV, less severely affected patients), with normal aldosterone biosynthesis, ’non-classic form’ or late-onset (NC or LOAH) and ‘cryptic’ (asymptomatic). The disease is caused by variants affecting the gene represented in this entry. Hyperaldosteronism, familial, 1 (HALD1) [MIM:103900] A disorder characterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol. There is significant phenotypic heterogeneity, and some individuals never develop hypertension. The disease is caused by variants affecting the gene represented in this entry. The molecular defect causing hyperaldosteronism familial 1 is an anti-Lepore-type fusion of the CYP11B1 and CYP11B2 genes. The hybrid gene has the promoting part of CYP11B1, ACTH-sensitive, and the coding part of CYP11B2.

Pathway. Steroid biosynthesis; glucocorticoid biosynthesis. Steroid hormone biosynthesis.

Similarity. Belongs to the cytochrome P450 family.

Isoforms (2)

UniProt ID	Names	Canonical?
P15538-1	1	yes
P15538-2	2

RefSeq proteins (2): NP_000488, NP_001021384 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001128	Cyt_P450	Family
IPR002399	Cyt_P450_mitochondrial	Family
IPR017972	Cyt_P450_CS	Conserved_site
IPR036396	Cyt_P450_sf	Homologous_superfamily
IPR050479	CYP11_CYP27_families	Family

Pfam: PF00067

Enzyme classification (BRENDA):

• EC 1.14.15.4 — steroid 11beta-monooxygenase (BRENDA: 16 organisms, 122 substrates, 309 inhibitors, 38 Km, 19 kcat entries)

Substrate kinetics (BRENDA)

6 substrates with measured Km, best-characterized 6. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
11-DEOXYCORTICOSTERONE	0.0008–0.18	15
11-DEOXYCORTISOL	0.0084–0.338	6
CORTICOSTERONE	0.0059–0.087	4
ADRENAL FERREDOXIN	0.002–0.0024	2
DEOXYCORTICOSTERONE	0.006–0.02	2
4-ANDROSTENE-3,17-DIONE	0.013	1

Catalyzed reactions (Rhea), 3 shown:

• a steroid + 2 reduced [adrenodoxin] + O2 + 2 H(+) = an 11beta-hydroxysteroid + 2 oxidized [adrenodoxin] + H2O (RHEA:15629)
• 11-deoxycortisol + 2 reduced [adrenodoxin] + O2 + 2 H(+) = cortisol + 2 oxidized [adrenodoxin] + H2O (RHEA:46100)
• 21-hydroxyprogesterone + 2 reduced [adrenodoxin] + O2 + 2 H(+) = corticosterone + 2 oxidized [adrenodoxin] + H2O (RHEA:46104)

UniProt features (111 total): sequence variant 68, helix 23, strand 12, turn 4, transit peptide 1, chain 1, binding site 1, splice variant 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
7E7F	X-RAY DIFFRACTION	1.4
6M7X	X-RAY DIFFRACTION	2.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P15538-F1	91.10	0.81

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (1): 450 (axial binding residue)

Function

Pathways and Gene Ontology

Reactome pathways

13 pathways

ID	Pathway
R-HSA-194002	Glucocorticoid biosynthesis
R-HSA-211976	Endogenous sterols
R-HSA-5579017	Defective CYP11B1 causes AH4
R-HSA-1430728	Metabolism
R-HSA-1643685	Disease
R-HSA-196071	Metabolism of steroid hormones
R-HSA-211859	Biological oxidations
R-HSA-211897	Cytochrome P450 - arranged by substrate type
R-HSA-211945	Phase I - Functionalization of compounds
R-HSA-556833	Metabolism of lipids
R-HSA-5579029	Metabolic disorders of biological oxidation enzymes
R-HSA-5668914	Diseases of metabolism
R-HSA-8957322	Metabolism of steroids

MSigDB gene sets: 382 (showing top): GSE45365_NK_CELL_VS_BCELL_DN, MODULE_172, SHEPARD_BMYB_MORPHOLINO_UP, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, FREAC2_01, REACTOME_BIOLOGICAL_OXIDATIONS, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_REGULATION_OF_BLOOD_PRESSURE, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOMF_METALLOPEPTIDASE_ACTIVITY, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PAIRED_DONORS_WITH_INCORPORATION_OR_REDUCTION_OF_MOLECULAR_OXYGEN, GOBP_RESPONSE_TO_CORTICOSTEROID, GOBP_GLUCOCORTICOID_METABOLIC_PROCESS, ENK_UV_RESPONSE_KERATINOCYTE_UP, GOBP_C21_STEROID_HORMONE_METABOLIC_PROCESS

GO Biological Process (16): C21-steroid hormone biosynthetic process (GO:0006700), glucocorticoid biosynthetic process (GO:0006704), immune response (GO:0006955), cholesterol metabolic process (GO:0008203), regulation of blood pressure (GO:0008217), sterol metabolic process (GO:0016125), aldosterone biosynthetic process (GO:0032342), cellular response to hormone stimulus (GO:0032870), cortisol metabolic process (GO:0034650), cortisol biosynthetic process (GO:0034651), cellular response to potassium ion (GO:0035865), glucose homeostasis (GO:0042593), cellular response to peptide hormone stimulus (GO:0071375), alcohol metabolic process (GO:0006066), lipid metabolic process (GO:0006629), steroid biosynthetic process (GO:0006694)

GO Molecular Function (10): steroid 11-beta-monooxygenase activity (GO:0004507), iron ion binding (GO:0005506), heme binding (GO:0020037), corticosterone 18-monooxygenase activity (GO:0047783), monooxygenase activity (GO:0004497), steroid hydroxylase activity (GO:0008395), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705), oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced iron-sulfur protein as one donor, and incorporation of one atom of oxygen (GO:0016713), metal ion binding (GO:0046872)

GO Cellular Component (5): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020), mitochondrial membrane (GO:0031966)

Reactome top-level categories

Rollup of top-10 pathways:

Category	Pathways
Metabolism	2
Metabolism of steroid hormones	1
Cytochrome P450 - arranged by substrate type	1
Metabolic disorders of biological oxidation enzymes	1
Metabolism of steroids	1
Phase I - Functionalization of compounds	1
Biological oxidations	1
Diseases of metabolism	1
Disease	1
Metabolism of lipids	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
steroid hormone biosynthetic process	2
glucocorticoid metabolic process	2
steroid metabolic process	2
primary alcohol biosynthetic process	2
ketone biosynthetic process	2
olefinic compound biosynthetic process	2
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced iron-sulfur protein as one donor, and incorporation of one atom of oxygen	2
oxidoreductase activity	2
monooxygenase activity	2
organelle membrane	2
C21-steroid hormone metabolic process	1
hormone biosynthetic process	1
immune system process	1
response to stimulus	1
sterol metabolic process	1
secondary alcohol metabolic process	1
blood circulation	1
regulation of biological quality	1
C21-steroid hormone biosynthetic process	1
mineralocorticoid biosynthetic process	1
aldosterone metabolic process	1
aldehyde biosynthetic process	1
response to hormone	1
cellular response to chemical stimulus	1
cellular response to endogenous stimulus	1
primary alcohol metabolic process	1
ketone metabolic process	1
olefinic compound metabolic process	1
tertiary alcohol metabolic process	1
glucocorticoid biosynthetic process	1
cortisol metabolic process	1
tertiary alcohol biosynthetic process	1
response to potassium ion	1
cellular response to metal ion	1
carbohydrate homeostasis	1
cellular response to hormone stimulus	1
response to peptide hormone	1
cellular response to nitrogen compound	1
cellular response to oxygen-containing compound	1
small molecule metabolic process	1

Protein interactions and networks

STRING

1589 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CYP11B1	HSD11B2	P80365	919
CYP11B1	HSD3B2	P26439	895
CYP11B1	MC2R	Q01718	894
CYP11B1	POMC	P01189	860
CYP11B1	STAR	P49675	843
CYP11B1	FDX1	P10109	808
CYP11B1	REN	P00797	795
CYP11B1	HSD3B1	P14060	793
CYP11B1	NR5A1	Q13285	787
CYP11B1	FDXR	P22570	739
CYP11B1	KCNJ5	P48544	723
CYP11B1	NR0B1	P51843	703
CYP11B1	HSD17B3	P37058	668
CYP11B1	AGT	P01019	667
CYP11B1	NR5A2	O00482	643

IntAct

2 interactions, top by confidence:

A	B	Type	Score
M		psi-mi:“MI:0914”(association)	0.350

BioGRID (5): CYP11B1 (Synthetic Lethality), CYP11B1 (Affinity Capture-MS), CYP11B1 (Affinity Capture-MS), CYP11B1 (PCA), CYP11B1 (PCA)

ESM2 similar proteins: O15528, O35074, O46515, O77809, O77810, P00187, P00189, P05108, P05177, P10611, P10612, P14137, P14579, P14580, P14581, P15150, P15393, P15538, P15539, P17177, P17178, P19099, P30099, P30100, P51663, P79153, P79202, P97720, Q02318, Q02928, Q07217, Q16647, Q28827, Q29527, Q29552, Q29626, Q2XV99, Q4H4C3, Q5KQT6, Q5TCH4

Diamond homologs: A0A068Q5V6, A0A068Q605, A0A068Q7V0, A0A0C5QRZ2, A0A0D9MRV9, A0A0N7F297, A0A1B4XBH0, A0A1B4XBH8, A0A1D6F9Y9, A0A1D6HSP4, A0A1W5T1Y6, A0A2H5AIX6, A0A2K9RG08, A0A3Q9R4N5, A0A4D6Q414, A0A4D6Q415, A0A517FNC5, A0A8K1AW54, A2QBE8, A6YIH8, B1GVX3, B8NHD9, B8NHY4, C9K202, D1MX85, E9KMQ3, E9Q816, F2K081, F4JW83, G3XSI3, G4N2X2, G5EJN7, H2DH18, H2DH24, L0N063, L7HT17, M1KVN4, M1KXD0, O13345, O22203

SIGNOR signaling

6 interactions.

A	Effect	B	Mechanism
NR5A2	“up-regulates quantity by expression”	CYP11B1	“transcriptional regulation”
CYP11B1	“up-regulates quantity”	cortisol	“chemical modification”
CYP11B1	“down-regulates quantity”	11-deoxycortisol	“chemical modification”
CYP11B1	“up-regulates quantity”	corticosterone	“chemical modification”
CYP11B1	“down-regulates quantity”	11-deoxycorticosterone	“chemical modification”
metyrapone	“down-regulates activity”	CYP11B1	“chemical inhibition”

Disease & clinical

Clinical variants and AI predictions

ClinVar

828 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	62
Likely pathogenic	52
Uncertain significance	223
Likely benign	383
Benign	39

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1030831	NM_000497.4(CYP11B1):c.1343G>C (p.Arg448Pro)	Pathogenic
1071893	NM_000497.4(CYP11B1):c.1200+1G>A	Pathogenic
1073770	NM_000497.4(CYP11B1):c.954+1G>A	Pathogenic
1073771	NM_000497.4(CYP11B1):c.421C>T (p.Arg141Ter)	Pathogenic
1172	NC_000008.11:g.(142876886_142877022)_(142914909_142915045)dup	Pathogenic
1173	NM_000497.4(CYP11B1):c.953C>T (p.Thr318Met)	Pathogenic
1176	NM_000497.4(CYP11B1):c.347G>A (p.Trp116Ter)	Pathogenic
1179210	GRCh37/hg19 8q24.3(chr8:143958418-143996344)	Pathogenic
1184	CYP11B1, CYP11B1/CYP11B2 CHIMERA	Pathogenic
1186	NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu)	Pathogenic
1187	NM_000497.4(CYP11B1):c.1103C>A (p.Ala368Asp)	Pathogenic
1264328	NM_000497.4(CYP11B1):c.1024C>T (p.Gln342Ter)	Pathogenic
1383815	NM_000497.4(CYP11B1):c.520A>T (p.Lys174Ter)	Pathogenic
1417850	NM_000497.4(CYP11B1):c.610_611del (p.Leu204fs)	Pathogenic
1455339	NM_000497.4(CYP11B1):c.546dup (p.Ser183fs)	Pathogenic
1458049	NM_000497.4(CYP11B1):c.348G>C (p.Trp116Cys)	Pathogenic
1498491	NC_000008.10:g.(?143955779)(143958311_?)del	Pathogenic
1687503	NM_000497.4(CYP11B1):c.913A>T (p.Lys305Ter)	Pathogenic
1907719	NM_000497.4(CYP11B1):c.392del (p.Leu131fs)	Pathogenic
1998107	NM_000497.4(CYP11B1):c.858C>A (p.Tyr286Ter)	Pathogenic
2002201	NM_000497.4(CYP11B1):c.1215_1216del (p.Phe406fs)	Pathogenic
2015726	NM_000497.4(CYP11B1):c.825T>A (p.Tyr275Ter)	Pathogenic
2020444	NM_000497.4(CYP11B1):c.1057G>T (p.Glu353Ter)	Pathogenic
2029348	NM_000497.4(CYP11B1):c.852_853inv (p.Gln285Ter)	Pathogenic
2045819	NM_000497.4(CYP11B1):c.146G>A (p.Trp49Ter)	Pathogenic
2098506	NM_000497.4(CYP11B1):c.874G>T (p.Glu292Ter)	Pathogenic
2124575	NM_000497.4(CYP11B1):c.270T>A (p.Cys90Ter)	Pathogenic
2136708	NM_000497.4(CYP11B1):c.1150C>G (p.Arg384Gly)	Pathogenic
2182566	NM_000497.4(CYP11B1):c.1228_1229del (p.Leu410fs)	Pathogenic
2581368	NM_000497.4(CYP11B1):c.199del (p.Glu67fs)	Pathogenic

SpliceAI

1671 predictions. Top by Δscore:

Variant	Effect	Δscore
8:142874955:A:AC	donor_gain	1.0000
8:142874956:C:CC	donor_gain	1.0000
8:142875875:CCGT:C	acceptor_gain	1.0000
8:142875876:CGT:C	acceptor_gain	1.0000
8:142875876:CGTC:C	acceptor_gain	1.0000
8:142875878:TCTGC:T	acceptor_loss	1.0000
8:142875879:C:CA	acceptor_loss	1.0000
8:142875879:C:CC	acceptor_gain	1.0000
8:142875880:T:A	acceptor_loss	1.0000
8:142876208:CCCT:C	donor_gain	1.0000
8:142876253:C:CA	donor_gain	1.0000
8:142876266:T:TA	donor_gain	1.0000
8:142876401:C:CT	acceptor_gain	1.0000
8:142876681:CCGTA:C	donor_gain	1.0000
8:142876685:A:AC	donor_gain	1.0000
8:142876686:C:CC	donor_gain	1.0000
8:142876886:C:CC	acceptor_gain	1.0000
8:142876972:C:A	donor_gain	1.0000
8:142876983:C:CA	donor_gain	1.0000
8:142877017:CCACA:C	donor_loss	1.0000
8:142877018:CACA:C	donor_loss	1.0000
8:142877019:ACACC:A	donor_loss	1.0000
8:142877021:ACCT:A	donor_loss	1.0000
8:142877022:C:A	donor_loss	1.0000
8:142877022:CCTT:C	donor_gain	1.0000
8:142877058:T:TA	donor_gain	1.0000
8:142877218:CATTC:C	acceptor_gain	1.0000
8:142877220:TTC:T	acceptor_gain	1.0000
8:142877221:TCCTA:T	acceptor_loss	1.0000
8:142877222:CCTAC:C	acceptor_loss	1.0000

AlphaMissense

3297 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:142875026:A:C	F443L	0.989
8:142875026:A:T	F443L	0.989
8:142875028:A:G	F443L	0.989
8:142875801:G:C	S344R	0.984
8:142875801:G:T	S344R	0.984
8:142875803:T:G	S344R	0.984
8:142876881:G:C	S200R	0.980
8:142876881:G:T	S200R	0.980
8:142876883:T:G	S200R	0.980
8:142875721:T:A	E371V	0.979
8:142879081:A:G	W116R	0.976
8:142879081:A:T	W116R	0.976
8:142877207:C:A	W137C	0.974
8:142877207:C:G	W137C	0.974
8:142876250:G:C	S315R	0.973
8:142876250:G:T	S315R	0.973
8:142876252:T:G	S315R	0.973
8:142875838:C:G	R332P	0.972
8:142876703:A:G	W260R	0.971
8:142876703:A:T	W260R	0.971
8:142875844:A:G	L330P	0.969
8:142877209:A:G	W137R	0.969
8:142877209:A:T	W137R	0.969
8:142875722:C:T	E371K	0.967
8:142875720:C:A	E371D	0.965
8:142875720:C:G	E371D	0.965
8:142877196:C:G	R141P	0.965
8:142877023:C:G	A199P	0.964
8:142875841:G:T	A331D	0.961
8:142879598:G:C	F72L	0.960

dbSNP variants (sampled 300 via entrez): RS1001526109 (8:142880214 A>G), RS1001955453 (8:142880025 A>G), RS1002185326 (8:142872531 A>G), RS1002286264 (8:142877577 C>G), RS1003074253 (8:142880604 A>G), RS1003153565 (8:142880245 A>G), RS1003444318 (8:142879382 C>A), RS1005166441 (8:142881616 A>C,G), RS1005365266 (8:142879932 A>C,G), RS1005556642 (8:142877274 C>G,T), RS1005809533 (8:142872928 G>A,T), RS1005898526 (8:142876274 G>A,T), RS1005972360 (8:142876074 A>G), RS1006433808 (8:142880065 T>G), RS1006814695 (8:142880228 G>A)

Disease associations

OMIM: gene MIM:610613 | disease phenotypes: MIM:103900, MIM:202010, MIM:203400, MIM:610600

GenCC curated gene-disease

Disease	Classification	Inheritance
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	Definitive	Autosomal recessive
glucocorticoid-remediable aldosteronism	Strong	Autosomal dominant

Mondo (5): glucocorticoid-remediable aldosteronism (MONDO:0007080), congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (MONDO:0008729), congenital adrenal hyperplasia (MONDO:0018479), corticosterone methyloxidase type 1 deficiency (MONDO:0008751), corticosterone methyloxidase type 2 deficiency (MONDO:0012524)

Orphanet (4): Familial hyperaldosteronism type I (Orphanet:403), Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (Orphanet:90795), Congenital adrenal hyperplasia (Orphanet:418), Familial hypoaldosteronism (Orphanet:427)

HPO phenotypes

64 total (30 of 64 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000013	Hypoplasia of the uterus
HP:0000040	Long penis
HP:0000061	Ambiguous genitalia, female
HP:0000062	Ambiguous genitalia
HP:0000079	Abnormality of the urinary system
HP:0000127	Renal salt wasting
HP:0000147	Polycystic ovaries
HP:0000360	Tinnitus
HP:0000421	Epistaxis
HP:0000771	Gynecomastia
HP:0000822	Hypertension
HP:0000826	Precocious puberty
HP:0000840	Adrenogenital syndrome
HP:0000858	Irregular menstruation
HP:0000859	Increased circulating aldosterone concentration
HP:0000953	Hyperpigmentation of the skin
HP:0001007	Hirsutism
HP:0001025	Urticaria
HP:0001061	Acne
HP:0001324	Muscle weakness
HP:0001507	Growth abnormality
HP:0001596	Alopecia
HP:0001959	Polydipsia
HP:0002018	Nausea
HP:0002170	Intracranial hemorrhage
HP:0002315	Headache
HP:0002900	Hypokalemia
HP:0003154	Increased circulating ACTH level

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST005979_15	Systolic blood pressure	4.000000e-12
GCST007705_1	Pulse pressure	7.000000e-06
GCST007706_31	Mean arterial pressure	1.000000e-11
GCST007707_31	Hypertension	2.000000e-08

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0006335	systolic blood pressure
EFO:0005763	pulse pressure measurement
EFO:0006340	mean arterial pressure

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D000312	Adrenal Hyperplasia, Congenital	C12.050.351.875.253.090.500; C12.200.706.316.090.500; C12.800.316.090.500; C16.131.939.316.129.500; C16.320.033; C16.320.565.925.249; C18.452.648.925.249; C19.053.440; C19.391.119.090.500
C535978	Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency (supp.)
C563177	Glucocorticoid-Remediable Aldosteronism (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL1908 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

13 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 312,169 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL106	FLUCONAZOLE	4	58,942
CHEMBL1397	POSACONAZOLE	4	541
CHEMBL1444	LETROZOLE	4	81,122
CHEMBL157101	KETOCONAZOLE	4	75,361
CHEMBL254328	ABIRATERONE	4	22,316
CHEMBL3099695	OSILODROSTAT	4	347
CHEMBL681	ETOMIDATE	4	8,462
CHEMBL934	METYRAPONE	4	2,893
CHEMBL4113975	BAXDROSTAT	3	16
CHEMBL224060	VOROZOLE	2	30,135
CHEMBL287677	DEXFADROSTAT	2	169
CHEMBL70611	AZALANSTAT	2	103
CHEMBL9298	FADROZOLE	2	31,762

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — CYP11, CYP17, CYP19, CYP20 and CYP21 families

Most potent curated ligand interactions (9 total), top 9:

Ligand	Action	Affinity	Parameter
fadrozole	Inhibition	8.66	pKi
osilodrostat	Inhibition	8.54	pIC50
metyrapone	Inhibition	7.84	pIC50
azalanstat	Inhibition	7.46	pKi
dexfadrostat	Inhibition	7.06	pIC50
(2S,4S)-ketoconazole	Inhibition	6.9	pIC50
lorundrostat	Inhibition	6.32	pKi
levoketoconazole	Inhibition	6.22	pIC50
vicadrostat	Inhibition	5.33	pIC50

Binding affinities (BindingDB)

805 measured of 880 human assays (880 total across all organisms); most potent 50 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value	Patent
(E)-2-(4-Chlorophenoxy)-3- (dimethylamino)-1-(2-methoxyphenyl)prop- 2-en-1-one	EC50	0.001 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
4-[(Z)-1-(2-Benzyloxybenzoyl)-2- (dimethylamino)vinyloxy]benzonitrile	EC50	0.001 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
CHEM-US-00174	EC50	0.003 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
CHEM-US-00182	EC50	0.005 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
4-[[3-[2-(Pyridin-4-ylmethoxy)phenyl]-1H-pyrazol-4-yl]oxy]benzonitrile	EC50	0.007 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
CHEM-US-00175	EC50	0.007 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
CHEM-US-00172	EC50	0.011 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
CHEM-US-00173	EC50	0.011 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
4-[[3-(2-Fluoro-3-hydroxyphenyl)-1H-pyrazol-4-yl]oxy]benzonitrile	EC50	0.017 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
(E)-1-[(2-Chlorobenzoyl)-2- (dimethylamino)vinyloxy]benzonitrile	EC50	0.018 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
CHEM-US-00183	EC50	0.028 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
Methyl 3-[(E)-2-(4-cyanophenoxy)- 3-(dimethylamino)prop-2-enoyl]benzoate	EC50	0.031 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
CHEM-US-00129	EC50	0.032 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
4-[[3-[3-[[3-Fluoro-3-(hydroxymethyl)azetidin-1-yl]methyl]phenyl]-1H-pyrazol-4-yl]oxy]benzonitrile	EC50	0.036 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
CHEM-US-00162	EC50	0.038 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
CHEM-US-00131	EC50	0.046 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
4-[[3-[3-[(6-Fluoropyridin-2-yl)oxymethyl]phenyl]-1H-pyrazol-4-yl]oxy]benzonitrile	EC50	0.048 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
(rac)-6-[4-[1-(1-Acetylpiperidin-4-yl)ethyl]-1H-pyrazol-3-yl]-5-fluoro-1-methyl-3,4-dihydroquinolin-2-one	EC50	0.049 nM	US-9796702: Dihydroquinoline pyrazolyl compounds
4-[3-[3-(pyridin-3-ylmethoxy)phenyl]pyrazolidin-4-yl]oxybenzonitrile	EC50	0.051 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
(E)-2-(4-Chlorophenoxy)-1-(2- chlorophenyl)-3-(dimethylamino)prop-2-en- 1-one	EC50	0.052 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
4-[[3-[3-(Pyridin-2-ylmethoxy)phenyl]-1H-pyrazol-4-yl]oxy]benzonitrile	EC50	0.052 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
4-[(Z)-1-(3-Benzyloxybenzoyl)-2- (dimethylamino)vinyloxy]benzonitrile	EC50	0.053 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
(rac)-6-[4-[1-(1-Acetylpiperidin-4-yl)ethyl]-1H-pyrazol-3-yl]-7-fluoro-1-methyl-3,4-dihydroquinolin-2-one	EC50	0.067 nM	US-9796702: Dihydroquinoline pyrazolyl compounds
4-[(Z)-1-(2-Chloro-3-fluoro- benzoyl)- (dimethylamino)vinyloxy]benzonitrile	EC50	0.069 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
(+)-6-[4-[(1R)-1-(1-acetylpiperidin-4-yl)ethyl]-1H-pyrazol-3-yl]-5-fluoro-1-methyl-3,4-dihydroquinolin-2-one	EC50	0.074 nM	US-9796702: Dihydroquinoline pyrazolyl compounds
(E)-2-(4-Chlorophenoxy)-1-[2- (difluoromethoxy)phenyl]-3- (dimethylamino)prop-2-en-1-one	EC50	0.076 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
CHEM-US-00074	EC50	0.076 nM	US-9796702: Dihydroquinoline pyrazolyl compounds
4-[[3-(3-Hydroxyphenyl)-1H-pyrazol-4-yl]oxy]benzonitrile	EC50	0.083 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
4-[[3-[3-(Hydroxymethyl)phenyl]-1H-pyrazol-4-yl]oxy]benzonitrile	EC50	0.085 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
CHEM-US-00133	EC50	0.094 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
1-methyl-6-[5-[(6-methyl-2-pyridinyl)sulfanylmethyl]-3-pyridinyl]-3,4-dihydroquinolin-2-one	EC50	0.1 nM	US-9458135: Dihydroquinoline-2-one derivatives
4-[[5-(3-Butoxyphenyl)-1H-pyrazol-4-yl]oxy]benzonitrile	EC50	0.102 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
CHEM-US-00072	EC50	0.133 nM	US-9796702: Dihydroquinoline pyrazolyl compounds
4-[(E)-1-(2-Chlorobenzoyl)-2- (dimethylamino)vinyloxy]-3-fluoro- benzonitrile	EC50	0.134 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
4-[[3-[3-(Morpholin-4-ylmethyl)phenyl]-1H-pyrazol-4-yl]oxy]benzonitrile	EC50	0.139 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
(rac)-4-[[3-[1-(1-Methylpyrazole-4-carbonyl)piperidin-3-yl]-1H-pyrazol-4-yl]oxy]benzonitrile	EC50	0.15 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
(E)-2-(4-Chlorophenoxy)-1-(2,4- difluorophenyl)-3-(dimethylamino)prop-2- en-1-one	EC50	0.159 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
CHEM-US-00117	EC50	0.159 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
(E)-1-[(2,3-Difluorobenzoyl)-2-(dimethylamino)vinyloxy]benzonitrile	EC50	0.161 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
(E)-2-(4-Chlorophenoxy)-3- (dimethylamino)-1-(2-fluorophenyl)prop-2- en-1-one	EC50	0.167 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
CHEM-US-00176	EC50	0.171 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
6-[4-[(1-Acetyl-4-piperidyl)methyl]-1H-pyrazol-3-yl]-5-fluoro-1-methyl-3,4-dihydroquinolin-2-one	EC50	0.184 nM	US-9796702: Dihydroquinoline pyrazolyl compounds
4-[(E)-1-(3-Chloro-2-fluoro- benzoyl)-2- (dimethylamino)vinyloxy]benzonitrile	EC50	0.191 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
CHEM-US-00130	EC50	0.198 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
(rac)-4-[[3-[3-(1-Acetylpyrrolidin-3-yl)oxyphenyl]-1H-pyrazol-4-yl]oxy]benzonitrile	EC50	0.215 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
5-Chloro-6-[4-[(2-ethylsulfonyl-2-azaspiro[3.3]heptan-6-yl)methyl]-1H-pyrazol-3-yl]-1-methyl-3,4-dihydroquinolin-2-one	EC50	0.215 nM	US-9796702: Dihydroquinoline pyrazolyl compounds
6-[4-[(1-Ethylsulfonyl-4-piperidyl)methyl]-1H-pyrazol-3-yl]-1-methyl-3,4-dihydroquinolin-2-one	EC50	0.216 nM	US-9796702: Dihydroquinoline pyrazolyl compounds
(rac)-3-Fluoro-4-[[5-[1-(1-methylpyrazole-4-carbonyl)piperidin-3-yl]-1H-pyrazol-4-yl]oxy]benzonitrile	EC50	0.231 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
(E)-1-(2-Chloro-3-fluoro-phenyl)-2- (4-chlorophenoxy)-3-(dimethylamino)prop-2- en-1-one	EC50	0.262 nM	US-9790217: Pyridinyloxy- and phenyloxy-pyrazolyl compounds
6-[4-[(1-Acetyl-4-piperidyl)methyl]-1H-pyrazol-3-yl]-1-methyl-3,4-dihydroquinolin-2-one	EC50	0.266 nM	US-9796702: Dihydroquinoline pyrazolyl compounds

ChEMBL bioactivities

2029 potent at pChembl≥5 of 2162 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
10.96	EC50	0.011	nM	CHEMBL5784805
10.96	EC50	0.011	nM	CHEMBL5873523
10.92	EC50	0.012	nM	CHEMBL5784706
10.77	EC50	0.017	nM	CHEMBL5907342
10.74	EC50	0.018	nM	CHEMBL5770375
10.55	EC50	0.028	nM	CHEMBL5925574
10.51	EC50	0.031	nM	CHEMBL6020579
10.49	EC50	0.032	nM	CHEMBL5965994
10.44	EC50	0.036	nM	CHEMBL5876457
10.42	EC50	0.038	nM	CHEMBL5754409
10.34	EC50	0.046	nM	CHEMBL5746716
10.32	EC50	0.048	nM	CHEMBL5949511
10.31	EC50	0.049	nM	CHEMBL5991777
10.29	EC50	0.051	nM	CHEMBL5866666
10.28	EC50	0.052	nM	CHEMBL5929256
10.28	EC50	0.053	nM	CHEMBL5928932
10.28	EC50	0.052	nM	CHEMBL5806425
10.17	EC50	0.067	nM	CHEMBL6026082
10.16	EC50	0.069	nM	CHEMBL5931916
10.13	EC50	0.074	nM	CHEMBL5877749
10.12	EC50	0.076	nM	CHEMBL6052764
10.12	EC50	0.076	nM	CHEMBL5816213
10.08	EC50	0.083	nM	CHEMBL5930370
10.07	EC50	0.085	nM	CHEMBL5789906
10.03	EC50	0.094	nM	CHEMBL5867156
10.00	EC50	0.1	nM	CHEMBL3916961
9.99	EC50	0.102	nM	CHEMBL5846526
9.88	EC50	0.133	nM	CHEMBL5762046
9.87	EC50	0.134	nM	CHEMBL5939452
9.86	EC50	0.139	nM	CHEMBL6029448
9.80	EC50	0.159	nM	CHEMBL5971655
9.80	EC50	0.159	nM	CHEMBL6048127
9.79	EC50	0.161	nM	CHEMBL5998019
9.78	EC50	0.167	nM	CHEMBL5962953
9.77	EC50	0.171	nM	CHEMBL5889781
9.73	EC50	0.184	nM	CHEMBL5767596
9.72	EC50	0.191	nM	CHEMBL5953706
9.70	EC50	0.198	nM	CHEMBL5979599
9.67	EC50	0.216	nM	CHEMBL5985475
9.67	EC50	0.215	nM	CHEMBL6006147
9.58	EC50	0.262	nM	CHEMBL5776949
9.57	EC50	0.266	nM	CHEMBL6039670
9.54	EC50	0.288	nM	CHEMBL5918071
9.52	IC50	0.3	nM	CHEMBL3099704
9.49	EC50	0.321	nM	CHEMBL5844431
9.46	EC50	0.35	nM	CHEMBL5993024
9.46	EC50	0.345	nM	CHEMBL6062016
9.46	EC50	0.351	nM	CHEMBL5843772
9.41	EC50	0.387	nM	CHEMBL5982551
9.40	EC50	0.4	nM	CHEMBL5910648

PubChem BioAssay actives

1226 with measured affinity, of 1584 total; 50 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
(4-fluorophenyl)methyl (5R)-5-(2-chloro-4-cyanophenyl)-6,7-dihydropyrrolo[1,2-c]imidazole-5-carboxylate	1059815: Inhibition of human recombinant CYP11B1 using 11-deoxycortisol as substrate by cell-based assay	ic50	0.0001	uM
3-(4-fluorophenyl)-4-[(5R)-6,7,8,9-tetrahydro-5H-imidazo[1,5-a]azepin-5-yl]benzonitrile	1059815: Inhibition of human recombinant CYP11B1 using 11-deoxycortisol as substrate by cell-based assay	ic50	0.0003	uM
Etomidate	1177643: Inhibition of human CYP11B1 expressed in V79 MZ cells pretreated with compound for 1 hr followed by addition of 500 nM 11-deoxycorticosterone for 3 hrs by HPLC analysis	ic50	0.0005	uM
4-chloro-1-(imidazol-1-ylmethyl)xanthen-9-one	732141: Inhibition of human CYP11B1 expressed in hamster V79MZh cells using [1,2-3H]-11-deoxycorticosterone as substrate	ic50	0.0005	uM
[4-(4-fluorophenyl)sulfanylpyrimidin-5-yl]-(1-methylsulfonylpiperidin-4-yl)methanol	1444796: Inhibition of human CYP11B1 expressed in HEK293A cells	ic50	0.0006	uM
2-(2-fluorophenyl)-5-[(5-methoxy-3-pyridinyl)methyl]pyridine	1402018: Inhibition of human CYP11B1 expressed in hamster V79MZ cells using [1,2-3H]-11-deoxycorticosterone as substrate after 6 hrs by HPTLC analysis	ic50	0.0008	uM
3-methyl-5-[(1-methyl-3-phenylpyrazol-5-yl)methyl]pyridine	1449095: Inhibition of human CYP11B1 expressed in hamster V79MZ cells using [1,2-3H]-11-deoxycorticosterone as substrate after 6 hrs by HPLC analysis	ic50	0.0010	uM
5-[(5-methyl-3-pyridinyl)methyl]-3-phenyl-1,2-thiazole	1449095: Inhibition of human CYP11B1 expressed in hamster V79MZ cells using [1,2-3H]-11-deoxycorticosterone as substrate after 6 hrs by HPLC analysis	ic50	0.0010	uM
N-(4-fluorophenyl)-5-(1-methylsulfonylpiperidin-4-yl)sulfanylpyrimidin-4-amine	2109499: Inhibition of human CYP11B1 expressed in HEK293-A cells	ic50	0.0010	uM
2,2,2-trifluoro-1-[4-(4-fluoroanilino)pyrimidin-5-yl]-1-(1-methylsulfonylpiperidin-4-yl)ethanol	1444796: Inhibition of human CYP11B1 expressed in HEK293A cells	ic50	0.0011	uM
2-[5-(4-chloro-7-fluoroindazol-1-yl)-3-pyridinyl]propan-2-ol	1474790: Inhibition of human CYP11B1-8C7 expressed in Chinese hamster V79 cells using 11-deoxycortisol as substrate preincubated for 1 hr followed by substrate addition measured for 3 hrs by HTRF assay	ic50	0.0011	uM
2-phenyl-5-[(5-phenyl-3-pyridinyl)methyl]pyridine	765522: Inhibition of human CYP11B1 expressed in hamster V79MZh cells using [1,2-3H]-11-deoxycorticosterone as substrate	ic50	0.0013	uM
6-(1-imidazol-1-yl-2-methylpropyl)-1-azatricyclo[6.3.1.04,12]dodeca-4,6,8(12)-trien-11-one	697753: Inhibition of human CYP11B1 expressed in hamster V79 MZh cells using deoxycorticosterone substrate	ic50	0.0014	uM
6-[cyclopropyl(imidazol-1-yl)methyl]-1-azatricyclo[6.3.1.04,12]dodeca-4,6,8(12)-trien-11-one	697753: Inhibition of human CYP11B1 expressed in hamster V79 MZh cells using deoxycorticosterone substrate	ic50	0.0015	uM
4-[(5R)-6,7-dihydro-5H-pyrrolo[1,2-c]imidazol-5-yl]-3-methylbenzonitrile	1059815: Inhibition of human recombinant CYP11B1 using 11-deoxycortisol as substrate by cell-based assay	ic50	0.0015	uM
2-[5-(4,7-difluoroindazol-1-yl)-3-pyridinyl]propan-2-ol	1474790: Inhibition of human CYP11B1-8C7 expressed in Chinese hamster V79 cells using 11-deoxycortisol as substrate preincubated for 1 hr followed by substrate addition measured for 3 hrs by HTRF assay	ic50	0.0018	uM
4-[4-nitro-2-(2-phenylethoxy)phenyl]pyridine	1203961: Inhibition of human CYP11B1 expressed in hamster fibroblast using 100 nM [3H]-11-deoxycorticosterone as substrate after 25 mins by HPLC analysis	ic50	0.0020	uM
5-[(5-methoxy-3-pyridinyl)methyl]-3-phenyl-1,2-oxazole	1449095: Inhibition of human CYP11B1 expressed in hamster V79MZ cells using [1,2-3H]-11-deoxycorticosterone as substrate after 6 hrs by HPLC analysis	ic50	0.0020	uM
2-(2-fluorophenyl)sulfonyl-5-[(5-methyl-3-pyridinyl)methyl]pyridine	1449095: Inhibition of human CYP11B1 expressed in hamster V79MZ cells using [1,2-3H]-11-deoxycorticosterone as substrate after 6 hrs by HPLC analysis	ic50	0.0020	uM
N-[3-[5-[(5-methyl-3-pyridinyl)methyl]-2-pyridinyl]phenyl]methanesulfonamide	1449095: Inhibition of human CYP11B1 expressed in hamster V79MZ cells using [1,2-3H]-11-deoxycorticosterone as substrate after 6 hrs by HPLC analysis	ic50	0.0020	uM
(1S,2R,6R,7R)-5-[5-(4-cyanophenyl)-3-pyridinyl]-N-(1H-indazol-5-yl)-3-oxa-4-azatricyclo[5.2.1.02,6]dec-4-ene-2-carboxamide	1874665: Inhibition of human CYP11B1 expressed in Chinese hamster V79 MZh cells using [14C]-deoxycorticosteron as substrate measured after 6 hrs by phosphoimager analysis	ic50	0.0020	uM
N-(4-fluorophenyl)-5-(4-methylsulfonylpiperazin-1-yl)sulfonylpyrimidin-4-amine	2109499: Inhibition of human CYP11B1 expressed in HEK293-A cells	ic50	0.0020	uM
3-methyl-5-[(6-phenyl-3-pyridinyl)methyl]pyridine	1203961: Inhibition of human CYP11B1 expressed in hamster fibroblast using 100 nM [3H]-11-deoxycorticosterone as substrate after 25 mins by HPLC analysis	ic50	0.0020	uM
4-(7-benzyl-6-oxo-5,8-dihydroimidazo[1,5-a]pyrazin-5-yl)benzonitrile	493925: Inhibition of human recombinant CYP11B1 by cell-based assay	ic50	0.0020	uM
Osilodrostat	1059815: Inhibition of human recombinant CYP11B1 using 11-deoxycortisol as substrate by cell-based assay	ic50	0.0025	uM
2-(2-fluorophenyl)-5-[(5-methyl-3-pyridinyl)methyl]pyridine	1449095: Inhibition of human CYP11B1 expressed in hamster V79MZ cells using [1,2-3H]-11-deoxycorticosterone as substrate after 6 hrs by HPLC analysis	ic50	0.0030	uM
2-(2-fluorophenyl)sulfanyl-5-[(5-methyl-3-pyridinyl)methyl]pyridine	1449095: Inhibition of human CYP11B1 expressed in hamster V79MZ cells using [1,2-3H]-11-deoxycorticosterone as substrate after 6 hrs by HPLC analysis	ic50	0.0030	uM
1-tritylimidazole	553065: Inhibition of human CYP11B1 expressed in hamster V79MZ cells using 11-deoxycorticosterone substrate	ic50	0.0030	uM
5-[(E)-3,4-dihydro-2H-naphthalen-1-ylidenemethyl]-1H-imidazole	1796252: CYP11B Assay from Article 10.1021/jm049600p: “Synthesis and evaluation of imidazolylmethylenetetrahydronaphthalenes and imidazolylmethyleneindanes: potent inhibitors of aldosterone synthase.”	ic50	0.0033	uM
5-[(Z)-3,4-dihydro-2H-naphthalen-1-ylidenemethyl]-1H-imidazole	242625: In vitro inhibition of [14C]deoxycorticosterone binding to human cytochrome P450 11B1 expressed in hamster V79 MZh cells	ic50	0.0033	uM
6-[cyclobutyl(imidazol-1-yl)methyl]-1-azatricyclo[6.3.1.04,12]dodeca-4,6,8(12)-trien-11-one	697753: Inhibition of human CYP11B1 expressed in hamster V79 MZh cells using deoxycorticosterone substrate	ic50	0.0034	uM
2-fluoro-4-[5-(2-methyl-1,3-dioxolan-2-yl)-3-pyridinyl]benzonitrile	1977385: Inhibition of human CYP11B1 stably transfected in mouse Y-1 cells using deoxycortisol or deoxycorticosterone as substrate incubated for 48 hrs by radioimmuno assay	ic50	0.0038	uM
N-cyclopropyl-5-[(5-methyl-3-pyridinyl)methyl]pyridin-2-amine	1449095: Inhibition of human CYP11B1 expressed in hamster V79MZ cells using [1,2-3H]-11-deoxycorticosterone as substrate after 6 hrs by HPLC analysis	ic50	0.0040	uM
2-(furan-3-yl)-5-[(5-methyl-3-pyridinyl)methyl]pyridine	1449095: Inhibition of human CYP11B1 expressed in hamster V79MZ cells using [1,2-3H]-11-deoxycorticosterone as substrate after 6 hrs by HPLC analysis	ic50	0.0040	uM
1-(2,2,2-triphenylethyl)imidazole	553065: Inhibition of human CYP11B1 expressed in hamster V79MZ cells using 11-deoxycorticosterone substrate	ic50	0.0040	uM
6-(1-pyridin-3-ylethyl)-1-azatricyclo[6.3.1.04,12]dodeca-4,6,8(12)-trien-11-one	723194: Inhibition of human CYP11B1 expressed in hamster V79MZh cells using [1,2-3H]-11-deoxy-corticosterone as substrate	ic50	0.0040	uM
3-(imidazol-1-ylmethyl)-6-propan-2-yloxyxanthen-9-one	1378887: Inhibition of human CYP11B1 expressed in hamster V79MZh cells using [1,2-3H]-11-deoxycorticosterone as substrate after 6 hrs by HPTLC analysis	ic50	0.0041	uM
6-isoquinolin-4-yl-3,4-dihydro-1H-quinazolin-2-one	1191379: Inhibition of CYP11B1 in human V79MZ cells using [3H]-11-deoxycorticosterone as substrate incubated for 1 hr prior to substrate addition measured after 25 mins by HPLC analysis	ic50	0.0045	uM
3-(cyclopropylmethoxy)-6-(imidazol-1-ylmethyl)xanthen-9-one	1378887: Inhibition of human CYP11B1 expressed in hamster V79MZh cells using [1,2-3H]-11-deoxycorticosterone as substrate after 6 hrs by HPTLC analysis	ic50	0.0047	uM
1-benzyl-5-phenylimidazole	459283: Inhibition of human CYP11B1 expressed in chinese hamster V79 cells	ic50	0.0048	uM
1-(3-methoxyphenyl)sulfonyl-6-(pyridin-3-ylmethyl)-3,4-dihydro-2H-quinoline	1162191: Inhibition of human CYP11B1 expressed in hamster V79MZh cells using [1,2-3H]-11-deoxycorticosterone as substrate	ic50	0.0050	uM
1-(1-adamantylmethyl)imidazole	553065: Inhibition of human CYP11B1 expressed in hamster V79MZ cells using 11-deoxycorticosterone substrate	ic50	0.0050	uM
5-[(5-methyl-3-pyridinyl)methyl]-3-phenyl-1,2-oxazole	1449095: Inhibition of human CYP11B1 expressed in hamster V79MZ cells using [1,2-3H]-11-deoxycorticosterone as substrate after 6 hrs by HPLC analysis	ic50	0.0050	uM
3-methyl-5-[(6-phenylsulfanyl-3-pyridinyl)methyl]pyridine	1449095: Inhibition of human CYP11B1 expressed in hamster V79MZ cells using [1,2-3H]-11-deoxycorticosterone as substrate after 6 hrs by HPLC analysis	ic50	0.0050	uM
4-(imidazol-1-ylmethyl)-7-[[3-(trifluoromethoxy)phenyl]methoxy]chromen-2-one	1174181: Inhibition of human CYP11B1 expressed in hamster V79MZh11B1 cells using [1,2-3H]-11-deoxycorticosterone substrate incubated for 25 mins by HPLC method	ic50	0.0050	uM
1-[(2,3,4,5,6-pentamethylphenyl)methyl]imidazole	553065: Inhibition of human CYP11B1 expressed in hamster V79MZ cells using 11-deoxycorticosterone substrate	ic50	0.0050	uM
3-methoxy-5-[(6-phenyl-3-pyridinyl)methyl]pyridine	765522: Inhibition of human CYP11B1 expressed in hamster V79MZh cells using [1,2-3H]-11-deoxycorticosterone as substrate	ic50	0.0050	uM
4-(cyclopropylmethoxy)-1-(imidazol-1-ylmethyl)xanthen-9-one	732141: Inhibition of human CYP11B1 expressed in hamster V79MZh cells using [1,2-3H]-11-deoxycorticosterone as substrate	ic50	0.0055	uM
4-[[5-(2-methylphenyl)imidazol-1-yl]methyl]benzonitrile	459283: Inhibition of human CYP11B1 expressed in chinese hamster V79 cells	ic50	0.0057	uM
3-cyclopentyloxy-6-(imidazol-1-ylmethyl)xanthen-9-one	1378887: Inhibition of human CYP11B1 expressed in hamster V79MZh cells using [1,2-3H]-11-deoxycorticosterone as substrate after 6 hrs by HPTLC analysis	ic50	0.0058	uM

CTD chemical–gene interactions

78 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Colforsin	affects cotreatment, affects expression, decreases expression, increases activity, increases expression (+1 more)	9
Cortodoxone	affects metabolic processing, increases metabolic processing	6
3,4,5,3’,4’-pentachlorobiphenyl	increases expression, increases reaction, affects cotreatment, increases activity	4
Hydrocortisone	increases chemical synthesis, increases reaction, affects metabolic processing	4
8-Bromo Cyclic Adenosine Monophosphate	increases expression, decreases reaction, affects reaction	4
Fadrozole	decreases activity	4
torcetrapib	decreases reaction, increases expression	3
Mitotane	affects reaction, increases expression, decreases expression	3
tributyltin	decreases expression, affects cotreatment, increases expression	2
3’,4’-dimethoxyflavone	increases expression, increases reaction, increases chemical synthesis, decreases reaction	2
Desoxycorticosterone	affects metabolic processing, increases chemical synthesis	2
Ketoconazole	affects binding, decreases activity	2
bisphenol F	increases expression	1
fluorene-9-bisphenol	decreases reaction, increases expression, decreases expression	1
triptolide	decreases expression, affects cotreatment	1
perflubron	increases expression	1
methylmercuric chloride	affects cotreatment, increases expression	1
bisphenol A	increases expression	1
deoxynivalenol	increases expression	1
4,4’-bisphenol F	decreases expression	1
2,4,5,2’,5’-pentachlorobiphenyl	decreases reaction, increases expression	1
alpha-naphthoflavone	increases chemical synthesis, increases reaction, increases expression	1
2,4,5,2’,4’,5’-hexachlorobiphenyl	affects cotreatment, increases expression	1
tetramethylpyrazine	increases expression	1
cyadox	affects expression, decreases expression, affects reaction, decreases reaction	1
3,4,5,3’,4’,5’-hexachlorobiphenyl	increases expression	1
3,4,3’,4’-tetrachlorobiphenyl	increases expression	1
triphenyltin	decreases expression	1
18-hydroxycortisol	affects chemical synthesis	1
fluorotelomer alcohols	decreases expression	1

ChEMBL screening assays

113 unique, capped per target: 95 binding, 16 admet, 2 functional

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1002228	Binding	Inhibition of human CYP11B1 expressed in hamster V79 MZh cells	Overcoming undesirable CYP1A2 inhibition of pyridylnaphthalene-type aldosterone synthase inhibitors: influence of heteroaryl derivatization on potency and selectivity. — J Med Chem
CHEMBL3784035	ADMET	Inhibition of CYP11B1 in human H295R cells using deoxycorticosterone as substrate incubated for 48 hrs by LC-MS method	Discovery of the Selective CYP17A1 Lyase Inhibitor BMS-351 for the Treatment of Prostate Cancer. — ACS Med Chem Lett
CHEMBL779292	Functional	In vitro inhibition of ACTH-stimulated corticosterone biosynthesis in rat adrenal slices	Pyridyl-substituted tetrahydrocyclopropa[a]naphthalenes: highly active and selective inhibitors of P450 arom. — J Med Chem

Cellosaurus cell lines

1 cell lines: 1 spontaneously immortalized cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_4709	V79MZh11B1	Spontaneously immortalized cell line	Male

Clinical trials (associated diseases)

83 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT03760835	PHASE4	RECRUITING	Congenital Adrenal Hyperplasia Once Daily Hydrocortisone Treatment
NCT04536662	PHASE4	UNKNOWN	Comparisons of Different Forms of Glucocorticoid on the Recovery of Reproductive Function in Patients With 21α-hydroxylase Deficiency
NCT00001521	PHASE3	COMPLETED	Three Drug Combination Therapy Versus Conventional Treatment of Children With Congenital Adrenal Hyperplasia
NCT02716818	PHASE3	COMPLETED	Comparison of Chronocort® With Standard Glucocorticoid Therapy in Patients With Congenital Adrenal Hyperplasia
NCT03062280	PHASE3	COMPLETED	A Study of the Efficacy, Safety and Tolerability of Chronocort in Treating CAH
NCT03532022	PHASE3	WITHDRAWN	Open-label Comparison of Chronocort® Versus Standard Glucocorticoid Replacement Therapy
NCT04490915	PHASE3	ACTIVE_NOT_RECRUITING	Global Safety and Efficacy Registration Study of Crinecerfont for Congenital Adrenal Hyperplasia
NCT04806451	PHASE3	ACTIVE_NOT_RECRUITING	Global Safety and Efficacy Registration Study of Crinecerfont in Pediatric Participants With Classic Congenital Adrenal Hyperplasia (CAHtalyst Pediatric Study)
NCT05063994	PHASE3	COMPLETED	Comparison of Chronocort Versus Standard Hydrocortisone Replacement Therapy in Participants Aged 16 Years and Over With Congenital Adrenal Hyperplasia
NCT05299554	PHASE3	COMPLETED	Long-term Safety Study of Chronocort in the Treatment of Participants With Congenital Adrenal Hyperplasia
NCT07144163	PHASE3	RECRUITING	A Study to Evaluate Atumelnant in Adults With Congenital Adrenal Hyperplasia
NCT00621985	PHASE2	COMPLETED	Dexamethasone Treatment of Congenital Adrenal Hyperplasia
NCT01735617	PHASE2	COMPLETED	Pilot Study to Characterize and Examine the Pharmacokinetics and Efficacy of Chronocort® in Adults With CAH
NCT01771328	PHASE2	UNKNOWN	Continuous Subcutaneous Hydrocortisone Infusion in Congenital Adrenal Hyperplasia
NCT01859312	PHASE2	COMPLETED	Comparison of Cortisol Pump With Standard Treatment for Congenital Adrenal Hyperplasia
NCT02804178	PHASE2	COMPLETED	A Study of ATR-101 for the Treatment of Congenital Adrenal Hyperplasia
NCT03257462	PHASE2	COMPLETED	Study of SPR001 in Adults With Classic Congenital Adrenal Hyperplasia
NCT03548246	PHASE2	WITHDRAWN	Androgen Reduction in Congenital Adrenal Hyperplasia
NCT03669549	PHASE2	TERMINATED	Nevanimibe HCl for the Treatment of Classic CAH
NCT03687242	PHASE2	COMPLETED	Study to Evaluate the Safety and Efficacy of SPR001 in Subjects With Classic Congenital Adrenal Hyperplasia
NCT04457336	PHASE2	TERMINATED	A Ph2b to Evaluate Clinical Efficacy and Safety of Tildacerfont in Adult CAH
NCT04544410	PHASE2	TERMINATED	A Ph2b to Evaluate Tildacerfont in the Reduction of Glucocorticoid Steroid Doses in Adult CAH
NCT05128942	PHASE2	TERMINATED	A Phase 2 Study to Evaluate the Safety, Efficacy and PK of Tildacerfont in Children Aged 2-17 Years With CAH
NCT05907291	PHASE2	COMPLETED	Evaluate the Safety, Efficacy, and Pharmacokinetics of CRN04894 in Participants With Congenital Adrenal Hyperplasia (TouCAHn)
NCT06712823	PHASE2	RECRUITING	An Extension Study to Evaluate Safety and Efficacy in Participants Treated With CRN04894
NCT07187375	PHASE2	RECRUITING	Pharmacokinetics, Safety and Tolerability of Crinecerfont in Participants With Congenital Adrenal Hyperplasia Who Are Less Than 2 Years Old
NCT07536269	PHASE2	NOT_YET_RECRUITING	Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Crinecerfont in Participants With Classic Congenital Adrenal Hyperplasia (CAH) Who Are Less Than 4 Years Old
NCT02349503	PHASE1	WITHDRAWN	Safety, Pharmacokinetics and Pharmacodynamics of NBI-77860 in Adolescent Females With Congenital Adrenal Hyperplasia
NCT02574910	PHASE1	TERMINATED	Androgen Reduction in Congenital Adrenal Hyperplasia, Phase 1
NCT03019614	PHASE1	COMPLETED	An Open Label Study in Healthy Volunteers to Compare Chronocort® to Hydrocortisone
NCT03051893	PHASE1	COMPLETED	A Two-part, Study to Compare the Pharmacokinetics and Dose Proportionality of up to 6 Chronocort Formulations
NCT03718234	PHASE1	COMPLETED	Subcutaneous Hydrocortisone Children With Congenital Adrenal Hyperplasia
NCT02552251	PHASE2/PHASE3	UNKNOWN	COrticosteroid in Congenital Adrenal Hyperplasia
NCT07159841	PHASE2/PHASE3	RECRUITING	A Study in Pediatric Participants With Congenital Adrenal Hyperplasia (Balance-CAH)
NCT00000102	PHASE1/PHASE2	COMPLETED	Congenital Adrenal Hyperplasia: Calcium Channels as Therapeutic Targets
NCT00519818	PHASE1/PHASE2	COMPLETED	Comparison of Two Forms of Hydrocortisone in Patients With Congenital Adrenal Hyperplasia
NCT04783181	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	A Study of Gene Therapy for Classic Congenital Adrenal Hyperplasia (CAH)
NCT05669950	PHASE1/PHASE2	RECRUITING	A Trial of Lu AG13909 in Participants With Congenital Adrenal Hyperplasia
NCT00011791	Not specified	COMPLETED	Catecholamine Reserve and Exercise Tolerance in Healthy Volunteers and Patients With Congenital Adrenal Hyperplasia
NCT00151710	Not specified	COMPLETED	Effects of Pioglitazone in Congenital Adrenal Hyperplasia