glaucoma 3A
diseaseOn this page
Also known as buphthalmosglaucoma 3, primary congenital, Aglaucoma 3, primary congenital, type aglaucoma 3A, primary open angle, congenital, juvenile, or adult onsetGLC3APrimary Congenital glaucoma 3A
Summary
glaucoma 3A (MONDO:0009277) is a disease caused by CYP1B1 (GenCC Definitive), with 5 cohort genes.
At a glance
- Prevalence: 1-9 / 100 000 (Europe) [Orphanet-validated]
- Causal gene: CYP1B1 (GenCC Definitive)
- Cohort genes: 5
- ClinVar variants: 196
- Phenotypes (HPO): 19
Clinical features
Epidemiology
Prevalence records
18 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2.2 | Europe | Validated |
| Prevalence at birth | 1-9 / 100 000 | 2.9 | Belgium | Validated |
| Prevalence at birth | 1-9 / 100 000 | 6.6 | France | Validated |
| Prevalence at birth | 1-9 / 100 000 | 2.8 | Malta | Validated |
| Prevalence at birth | 1-9 / 100 000 | 3.6 | Italy | Validated |
| Prevalence at birth | 1-9 / 100 000 | 5.6 | Netherlands | Validated |
| Prevalence at birth | 1-9 / 1 000 000 | 0.8 | Norway | Validated |
| Prevalence at birth | 1-9 / 1 000 000 | 0.9 | Portugal | Validated |
| Prevalence at birth | 1-9 / 100 000 | 6.5 | Spain | Validated |
| Prevalence at birth | 1-9 / 100 000 | 2.2 | United Kingdom | Validated |
| Prevalence at birth | 1-9 / 100 000 | 3 | Ukraine | Validated |
| Prevalence at birth | 1-9 / 100 000 | 1.5 | Switzerland | Validated |
| Prevalence at birth | 1-9 / 100 000 | 1.4 | Poland | Validated |
| Prevalence at birth | 1-9 / 100 000 | 4.1 | Ireland | Validated |
| Prevalence at birth | 1-9 / 100 000 | 4.1 | Germany | Validated |
| Prevalence at birth | 1-9 / 100 000 | 2.8 | Croatia | Validated |
| Prevalence at birth | 1-9 / 100 000 | 3.4 | Austria | Validated |
| Point prevalence | 1-9 / 100 000 | Europe | Not yet validated |
Signs & symptoms
Clinical features (HPO)
19 HPO clinical features (Orphanet curated; top 19 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000501 | Glaucoma | Very frequent (80-99%) |
| HP:0012040 | Corneal stromal edema | Very frequent (80-99%) |
| HP:0000485 | Megalocornea | Frequent (30-79%) |
| HP:0000557 | Buphthalmos | Frequent (30-79%) |
| HP:0000613 | Photophobia | Frequent (30-79%) |
| HP:0000643 | Blepharospasm | Frequent (30-79%) |
| HP:0001089 | Iris atrophy | Frequent (30-79%) |
| HP:0007765 | Deep anterior chamber | Frequent (30-79%) |
| HP:0007906 | Ocular hypertension | Frequent (30-79%) |
| HP:0007957 | Corneal opacity | Frequent (30-79%) |
| HP:0009926 | Epiphora | Frequent (30-79%) |
| HP:0011490 | Abnormal Descemet membrane morphology | Frequent (30-79%) |
| HP:0025751 | Reduced anterior scleral thickness | Frequent (30-79%) |
| HP:0000545 | Myopia | Occasional (5-29%) |
| HP:0000572 | Visual loss | Occasional (5-29%) |
| HP:0000646 | Amblyopia | Occasional (5-29%) |
| HP:0007663 | Reduced visual acuity | Occasional (5-29%) |
| HP:0012803 | Anisometropia | Occasional (5-29%) |
| HP:0100693 | Iridodonesis | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | glaucoma 3A |
| Mondo ID | MONDO:0009277 |
| OMIM | 231300 |
| Orphanet | 98976 |
| DOID | DOID:11211 |
| NCIT | C148260 |
| UMLS | C1856439 |
| MedGen | 383912 |
| GARD | 0018224 |
| Is cancer (heuristic) | no |
Also known as: buphthalmos · glaucoma 3, primary congenital, A · glaucoma 3, primary congenital, type a · glaucoma 3A, primary open angle, congenital, juvenile, or adult onset · GLC3A · Primary Congenital glaucoma 3A
Data availability: 196 ClinVar variants · 3 GenCC gene-disease records · 1 cell line.
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › hereditary glaucoma › congenital glaucoma › primary congenital glaucoma › CYP1B1-related glaucoma with or without anterior segment dysgenesis › glaucoma 3A
Related subtypes (1): anterior segment dysgenesis 6
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
ClinVar germline variants
196 retrieved; paginated sample, class counts are floors:
87 uncertain significance, 31 pathogenic, 30 likely pathogenic, 19 conflicting classifications of pathogenicity, 13 benign, 7 likely benign, 6 pathogenic/likely pathogenic, 2 benign/likely benign, 1 not provided
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 2628067 | NM_015692.5(CPAMD8):c.3798_3861+1759del | CPAMD8 | Pathogenic | criteria provided, single submitter |
| 1076484 | NM_000104.4(CYP1B1):c.840C>A (p.Cys280Ter) | CYP1B1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 1120045 | NM_000104.4(CYP1B1):c.434_443del (p.Arg145fs) | CYP1B1 | Pathogenic | reviewed by expert panel |
| 1254629 | NM_000104.4(CYP1B1):c.1310C>T (p.Pro437Leu) | CYP1B1 | Pathogenic | reviewed by expert panel |
| 1322184 | NM_000104.4(CYP1B1):c.517G>T (p.Glu173Ter) | CYP1B1 | Pathogenic | reviewed by expert panel |
| 1339135 | NM_000104.4(CYP1B1):c.1044-2A>G | CYP1B1 | Pathogenic | reviewed by expert panel |
| 1339668 | NM_000104.4(CYP1B1):c.1090G>A (p.Val364Met) | CYP1B1 | Pathogenic | reviewed by expert panel |
| 1442930 | NM_000104.4(CYP1B1):c.55C>T (p.Gln19Ter) | CYP1B1 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 2203048 | NM_000104.4(CYP1B1):c.1168C>A (p.Arg390Ser) | CYP1B1 | Pathogenic | reviewed by expert panel |
| 2577219 | NM_000104.4(CYP1B1):c.317C>A (p.Ala106Asp) | CYP1B1 | Pathogenic | reviewed by expert panel |
| 265390 | NM_000104.4(CYP1B1):c.830del (p.Phe276_Leu277insTer) | CYP1B1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 2681130 | NM_000104.4(CYP1B1):c.872A>G (p.Asp291Gly) | CYP1B1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 2681138 | NM_000104.4(CYP1B1):c.1140dup (p.Val381fs) | CYP1B1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 2687741 | NM_000104.4(CYP1B1):c.9del (p.Ser4fs) | CYP1B1 | Pathogenic | no assertion criteria provided |
| 2734165 | NM_000104.4(CYP1B1):c.243C>G (p.Tyr81Ter) | CYP1B1 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 282564 | NM_000104.4(CYP1B1):c.1064_1076del (p.Arg355fs) | CYP1B1 | Pathogenic | reviewed by expert panel |
| 3236111 | NM_000104.4(CYP1B1):c.83C>A (p.Ser28Ter) | CYP1B1 | Pathogenic | criteria provided, single submitter |
| 3236697 | NM_000104.4(CYP1B1):c.1333T>A (p.Phe445Ile) | CYP1B1 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 335952 | NM_000104.4(CYP1B1):c.1168C>T (p.Arg390Cys) | CYP1B1 | Pathogenic | reviewed by expert panel |
| 3777763 | NC_000002.12:g.38012214_38131522del | CYP1B1 | Pathogenic | reviewed by expert panel |
| 417858 | NM_000104.4(CYP1B1):c.1063_1075del (p.Arg355fs) | CYP1B1 | Pathogenic | no assertion criteria provided |
| 523943 | NM_000104.4(CYP1B1):c.535del (p.Ala179fs) | CYP1B1 | Pathogenic | reviewed by expert panel |
| 592512 | NM_000104.4(CYP1B1):c.1169G>A (p.Arg390His) | CYP1B1 | Pathogenic | reviewed by expert panel |
| 68466 | NM_000104.4(CYP1B1):c.1200_1209dup (p.Thr404fs) | CYP1B1 | Pathogenic | reviewed by expert panel |
| 68468 | NM_000104.4(CYP1B1):c.868dup (p.Arg290fs) | CYP1B1 | Pathogenic | reviewed by expert panel |
| 7730 | NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu) | CYP1B1 | Pathogenic | reviewed by expert panel |
| 7733 | NM_000104.4(CYP1B1):c.1405C>T (p.Arg469Trp) | CYP1B1 | Pathogenic | reviewed by expert panel |
| 7735 | NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys) | CYP1B1 | Pathogenic | reviewed by expert panel |
| 7737 | NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter) | CYP1B1 | Pathogenic | reviewed by expert panel |
| 7742 | NM_000104.4(CYP1B1):c.174del (p.Pro58_Leu59insTer) | CYP1B1 | Pathogenic | no assertion criteria provided |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 6 · Orphanet: 12 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
GenCC gene–disease validity (cohort genes)
the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.
| Gene | Classification | Inheritance | Disease | Records |
|---|---|---|---|---|
| CYP1B1 | Definitive | Autosomal recessive | CYP1B1-related glaucoma with or without anterior segment dysgenesis | 6 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| CYP1B1 | Orphanet:708 | Peters anomaly |
| CYP1B1 | Orphanet:98976 | Congenital glaucoma |
| CYP1B1 | Orphanet:98977 | Juvenile glaucoma |
| PXDN | Orphanet:289499 | Congenital cataract microcornea with corneal opacity |
| PXDN | Orphanet:699850 | 2p25.3 microduplication syndrome |
| CPAMD8 | Orphanet:519388 | Autosomal recessive anterior segment dysgenesis |
| LTBP2 | Orphanet:238763 | Glaucoma secondary to spherophakia/ectopia lentis and megalocornea |
| LTBP2 | Orphanet:3449 | Weill-Marchesani syndrome |
| LTBP2 | Orphanet:98976 | Congenital glaucoma |
| LTBP3 | Orphanet:2623 | Geleophysic dysplasia |
| LTBP3 | Orphanet:2899 | Brachyolmia-amelogenesis imperfecta syndrome |
| LTBP3 | Orphanet:969 | Acromicric dysplasia |
Cohort genes → proteins
5 cohort genes, 5 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 5 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| CYP1B1 | HGNC:2597 | ENSG00000138061 | Q16678 | Cytochrome P450 1B1 | gencc,clinvar |
| PXDN | HGNC:14966 | ENSG00000130508 | Q92626 | Peroxidasin homolog | clinvar |
| CPAMD8 | HGNC:23228 | ENSG00000160111 | Q8IZJ3 | C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 | clinvar |
| LTBP2 | HGNC:6715 | ENSG00000119681 | Q14767 | Latent-transforming growth factor beta-binding protein 2 | clinvar |
| LTBP3 | HGNC:6716 | ENSG00000168056 | Q9NS15 | Latent-transforming growth factor beta-binding protein 3 | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| CYP1B1 | Cytochrome P450 1B1 | A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, steroid hormones and vitamins. |
| PXDN | Peroxidasin homolog | Catalyzes the two-electron oxidation of bromide by hydrogen peroxide and generates hypobromite as a reactive intermediate which mediates the formation of sulfilimine cross-links between methionine and hydroxylysine residues within an uncro… |
| LTBP2 | Latent-transforming growth factor beta-binding protein 2 | May play an integral structural role in elastic-fiber architectural organization and/or assembly. |
| LTBP3 | Latent-transforming growth factor beta-binding protein 3 | Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space. |
Protein-family classification
Druggable: 2 · Difficult: 0 · Unknown: 3 · Druggable fraction: 0.4
Family distribution
Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.
| Family | Genes | Fold | FDR |
|---|---|---|---|
| Complement | 1 | 53.6× | 0.056 |
| Antibody/Immunoglobulin | 1 | 5.8× | 0.240 |
| Other/Unknown | 3 | 1.1× | 0.608 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| CYP1B1 | Other/Unknown | no | Cyt_P450, Cyt_P450_E_grp-I, Cyt_P450_CS | |
| PXDN | Antibody/Immunoglobulin | yes | 1.11.1.7 | Cys-rich_flank_reg_C, VWF_dom, Leu-rich_rpt |
| CPAMD8 | Complement | yes | Macroglobln_a2, Kazal_dom, MG2 | |
| LTBP2 | Other/Unknown | no | EGF-type_Asp/Asn_hydroxyl_site, EGF, EGF-like_Ca-bd_dom | |
| LTBP3 | Other/Unknown | no | EGF-type_Asp/Asn_hydroxyl_site, EGF, EGF-like_Ca-bd_dom |
Expression context
Cohort genes with no expression data: 0.
5 cohort genes are a single-cell marker in ≥1 SCXA experiment.
Breadth distribution (Bgee present_calls)
| Bucket | Genes |
|---|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 5 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| ascending aorta | 2 |
| descending thoracic aorta | 2 |
| thoracic aorta | 2 |
| cartilage tissue | 1 |
| pericardium | 1 |
| synovial joint | 1 |
| hair follicle | 1 |
| stromal cell of endometrium | 1 |
| tendon of biceps brachii | 1 |
| apex of heart | 1 |
| pancreatic ductal cell | 1 |
| right lung | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| CYP1B1 | 285 | ubiquitous | marker | pericardium, cartilage tissue, synovial joint |
| PXDN | 265 | ubiquitous | marker | stromal cell of endometrium, hair follicle, tendon of biceps brachii |
| CPAMD8 | 227 | broad | marker | apex of heart, pancreatic ductal cell, right lung |
| LTBP2 | 276 | ubiquitous | marker | descending thoracic aorta, thoracic aorta, ascending aorta |
| LTBP3 | 279 | broad | marker | descending thoracic aorta, thoracic aorta, ascending aorta |
Protein interactions among cohort
Intra-cohort edges: 3.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| PXDN | 9,915 |
| CYP1B1 | 2,883 |
| LTBP2 | 2,658 |
| LTBP3 | 2,339 |
| CPAMD8 | 692 |
Intra-cohort edges
| A | B | Sources |
|---|---|---|
| CPAMD8 | LTBP2 | string_interaction |
| CPAMD8 | LTBP3 | string_interaction |
| CYP1B1 | LTBP2 | string_interaction |
Structural data
PDB: 1 · AlphaFold-only: 4 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| CYP1B1 | Q16678 | 2 |
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| PXDN | Q92626 | 80.43 |
| CPAMD8 | Q8IZJ3 | 72.99 |
| LTBP3 | Q9NS15 | 64.21 |
| LTBP2 | Q14767 | 58.33 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 13. Enrichment computed across 5 evidence-associated genes (4 with Reactome annotation).
Pathways by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 4 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| Elastic fibre formation | 2 | 167.9× | 3e-04 | LTBP2, LTBP3 |
| TGF-beta receptor signaling activates SMADs | 2 | 163.1× | 3e-04 | LTBP2, LTBP3 |
| Molecules associated with elastic fibres | 2 | 154.3× | 3e-04 | LTBP2, LTBP3 |
| Signaling by TGF-beta Receptor Complex | 2 | 100.2× | 5e-04 | LTBP2, LTBP3 |
| Defective CYP1B1 causes Glaucoma | 1 | 2855.0× | 9e-04 | CYP1B1 |
| Signaling by TGFB family members | 2 | 57.7× | 1e-03 | LTBP2, LTBP3 |
| Extracellular matrix organization | 2 | 31.6× | 0.003 | LTBP2, LTBP3 |
| Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET) | 1 | 356.9× | 0.005 | CYP1B1 |
| Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE) | 1 | 317.2× | 0.005 | CYP1B1 |
| Regulation of MITF-M-dependent genes involved in extracellular matrix, focal adhesion and epithelial-to-mesenchymal transition | 1 | 219.6× | 0.006 | PXDN |
| Crosslinking of collagen fibrils | 1 | 142.8× | 0.008 | PXDN |
| Endogenous sterols | 1 | 98.5× | 0.011 | CYP1B1 |
| Signal Transduction | 2 | 5.1× | 0.051 | LTBP2, LTBP3 |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 5 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| eye development | 2 | 140.4× | 0.005 | PXDN, CPAMD8 |
| benzene-containing compound metabolic process | 1 | 3370.4× | 0.006 | CYP1B1 |
| collagen fibril organization | 2 | 89.9× | 0.006 | CYP1B1, PXDN |
| transforming growth factor beta receptor signaling pathway | 2 | 63.6× | 0.006 | LTBP2, LTBP3 |
| trabecular meshwork development | 1 | 1685.2× | 0.007 | CYP1B1 |
| obsolete membrane lipid catabolic process | 1 | 842.6× | 0.010 | CYP1B1 |
| endothelial cell-cell adhesion | 1 | 842.6× | 0.010 | CYP1B1 |
| steroid catabolic process | 1 | 481.5× | 0.010 | CYP1B1 |
| retinal blood vessel morphogenesis | 1 | 481.5× | 0.010 | CYP1B1 |
| positive regulation of mesenchymal stem cell differentiation | 1 | 481.5× | 0.010 | LTBP3 |
| toxin metabolic process | 1 | 421.3× | 0.010 | CYP1B1 |
| lung saccule development | 1 | 421.3× | 0.010 | LTBP3 |
| positive regulation of mesenchymal stem cell proliferation | 1 | 421.3× | 0.010 | LTBP3 |
| angiogenesis | 2 | 25.0× | 0.010 | CYP1B1, PXDN |
| basement membrane assembly | 1 | 374.5× | 0.010 | PXDN |
| omega-hydroxylase P450 pathway | 1 | 306.4× | 0.012 | CYP1B1 |
| blood vessel endothelial cell migration | 1 | 280.9× | 0.012 | CYP1B1 |
| negative regulation of cell adhesion mediated by integrin | 1 | 259.3× | 0.013 | CYP1B1 |
| supramolecular fiber organization | 1 | 210.7× | 0.013 | LTBP2 |
| positive regulation of bone resorption | 1 | 198.3× | 0.013 | LTBP3 |
| protein homotrimerization | 1 | 198.3× | 0.013 | PXDN |
| negative regulation of bone mineralization | 1 | 187.2× | 0.013 | LTBP3 |
| retinal metabolic process | 1 | 187.2× | 0.013 | CYP1B1 |
| bone remodeling | 1 | 187.2× | 0.013 | LTBP3 |
| epoxygenase P450 pathway | 1 | 177.4× | 0.013 | CYP1B1 |
| intrinsic apoptotic signaling pathway in response to oxidative stress | 1 | 168.5× | 0.013 | CYP1B1 |
| sterol metabolic process | 1 | 168.5× | 0.013 | CYP1B1 |
| blood vessel morphogenesis | 1 | 160.5× | 0.013 | CYP1B1 |
| regulation of reactive oxygen species metabolic process | 1 | 146.5× | 0.013 | CYP1B1 |
| nitric oxide biosynthetic process | 1 | 140.4× | 0.013 | CYP1B1 |
Therapeutics
Drug target analysis
Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 4
Druggability breadth: 1 of 5 evidence-associated genes (20%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Genes with an approved drug
The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.
| Symbol | Example approved molecule |
|---|---|
| CYP1B1 | PAZOPANIB |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| CYP1B1 | 22 | 4 |
| PXDN | 0 | 0 |
| CPAMD8 | 0 | 0 |
| LTBP2 | 0 | 0 |
| LTBP3 | 0 | 0 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| PAZOPANIB | 4 | CYP1B1 |
| INDACATEROL | 4 | CYP1B1 |
| ESTRADIOL | 4 | CYP1B1 |
| CANNABIDIOL | 4 | CYP1B1 |
| BERBERINE | 4 | CYP1B1 |
| MELATONIN | 4 | CYP1B1 |
| ERYTHROMYCIN | 4 | CYP1B1 |
| CARVEDILOL | 4 | CYP1B1 |
| RESVERATROL | 3 | CYP1B1 |
| BERGAPTEN | 3 | CYP1B1 |
| QUERCETIN | 3 | CYP1B1 |
| CANNABINOL | 3 | CYP1B1 |
| LUTEOLIN | 2 | CYP1B1 |
| FORMONONETIN | 2 | CYP1B1 |
| FLAVONE | 2 | CYP1B1 |
| 2-METHOXYESTRADIOL | 2 | CYP1B1 |
| PINOCEMBRIN | 2 | CYP1B1 |
| KHELLIN | 2 | CYP1B1 |
| BAICALEIN | 2 | CYP1B1 |
| PTEROSTILBENE | 2 | CYP1B1 |
| KAEMPFEROL | 1 | CYP1B1 |
| PLUMBAGIN | 1 | CYP1B1 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 1.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| CYP1B1 | 408 | ADMET:281, Binding:127 |
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| PXDN | 1.11.1.7 | peroxidase |
Cohort genes with high screening signal
≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.
| Symbol | ChEMBL assays |
|---|---|
| CYP1B1 | 408 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 5; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Chemical tractability of cohort targets
22 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.
| Compound | Max phase | Cohort target (bioactivity) |
|---|---|---|
| PAZOPANIB | 4 | CYP1B1 |
| INDACATEROL | 4 | CYP1B1 |
| ESTRADIOL | 4 | CYP1B1 |
| CANNABIDIOL | 4 | CYP1B1 |
| BERBERINE | 4 | CYP1B1 |
| MELATONIN | 4 | CYP1B1 |
| ERYTHROMYCIN | 4 | CYP1B1 |
| CARVEDILOL | 4 | CYP1B1 |
| RESVERATROL | 3 | CYP1B1 |
| BERGAPTEN | 3 | CYP1B1 |
| QUERCETIN | 3 | CYP1B1 |
| CANNABINOL | 3 | CYP1B1 |
| LUTEOLIN | 2 | CYP1B1 |
| FORMONONETIN | 2 | CYP1B1 |
| FLAVONE | 2 | CYP1B1 |
| 2-METHOXYESTRADIOL | 2 | CYP1B1 |
| PINOCEMBRIN | 2 | CYP1B1 |
| KHELLIN | 2 | CYP1B1 |
| BAICALEIN | 2 | CYP1B1 |
| PTEROSTILBENE | 2 | CYP1B1 |
| KAEMPFEROL | 1 | CYP1B1 |
| PLUMBAGIN | 1 | CYP1B1 |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 1 | CYP1B1 |
| B | Phased (≥1) drug, not yet approved | 0 | |
| C | Druggable family + PDB, no drug | 0 | |
| D | Druggable family + AlphaFold only, no drug | 2 | PXDN, CPAMD8 |
| E | Difficult family or no structure, no drug | 2 | LTBP2, LTBP3 |
Undrugged target profiles
4 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| PXDN | 0 | — |
| CPAMD8 | 0 | — |
| LTBP2 | 0 | — |
| LTBP3 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.