Pseudotumor cerebri
disease diseaseOn this page
Also known as benign intracran. hypt.benign intracranial hypertensionIdiopathic Intracranial HypertensionIIH
Summary
Pseudotumor cerebri (MONDO:0009468) is a disease with 9 cohort genes (15 GWAS associations across 1 studies) and 42 clinical trials. Top therapeutic interventions include acetazolamide, semaglutide, and tirzepatide.
At a glance
- Prevalence: 1-5 / 10 000 (Europe) [Orphanet-validated]
- Cohort genes: 9
- GWAS associations: 15
- Phenotypes (HPO): 21
- Clinical trials: 42
Clinical features
Epidemiology
Prevalence records
1 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 14 | Europe | Validated |
Signs & symptoms
Clinical features (HPO)
21 HPO clinical features (Orphanet curated; top 21 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0002315 | Headache | Very frequent (80-99%) |
| HP:0002516 | Increased intracranial pressure | Very frequent (80-99%) |
| HP:0001085 | Papilledema | Frequent (30-79%) |
| HP:0001513 | Obesity | Frequent (30-79%) |
| HP:0012393 | Allergy | Frequent (30-79%) |
| HP:0000572 | Visual loss | Occasional (5-29%) |
| HP:0000613 | Photophobia | Occasional (5-29%) |
| HP:0000622 | Blurred vision | Occasional (5-29%) |
| HP:0000651 | Diplopia | Occasional (5-29%) |
| HP:0002013 | Vomiting | Occasional (5-29%) |
| HP:0002018 | Nausea | Occasional (5-29%) |
| HP:0002360 | Sleep abnormality | Occasional (5-29%) |
| HP:0010822 | Scintillating scotoma | Occasional (5-29%) |
| HP:0100851 | Abnormal emotion/affect behavior | Occasional (5-29%) |
| HP:0000716 | Depression | Very rare (<1-4%) |
| HP:0001254 | Lethargy | Very rare (<1-4%) |
| HP:0002076 | Migraine | Very rare (<1-4%) |
| HP:0002321 | Vertigo | Very rare (<1-4%) |
| HP:0003418 | Back pain | Very rare (<1-4%) |
| HP:0008629 | Pulsatile tinnitus | Very rare (<1-4%) |
| HP:0011161 | Olfactory auras | Very rare (<1-4%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | pseudotumor cerebri |
| Mondo ID | MONDO:0009468 |
| EFO | EFO:1001132 |
| MeSH | D011559 |
| OMIM | 243200 |
| Orphanet | 238624 |
| DOID | DOID:11459 |
| ICD-10-CM | G93.2 |
| ICD-11 | 815670637 |
| NCIT | C85035 |
| SNOMED CT | 68267002 |
| UMLS | C0033845 |
| MedGen | 18732 |
| GARD | 0004561 |
| MedDRA | 10037149 |
| NORD | 1294 |
| Is cancer (heuristic) | no |
Also known as: benign intracran. hypt. · benign intracranial hypertension · Idiopathic Intracranial Hypertension · idiopathic intracranial hypertension · IIH · pseudotumor cerebri
Data availability: 15 GWAS associations (1 study).
Disease family
Classification path: disease › human disease › disease by body system or component › cardiovascular disorder › vascular disorder › arterial disorder › hypertensive disorder › intracranial hypertension › pseudotumor cerebri
Related subtypes (1): hypertensive encephalopathy
Genetics & variants
GWAS landscape
15 GWAS associations across 1 studies. Top hits map to 13 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs9578751 | 1e-07 | PARP4, TPTE2P6 | ? | |
| rs79642714 | 2e-07 | FAM8A1 | ? | |
| rs55652507 | 3e-07 | RPL6P32 - RNA5SP199 | ? | |
| rs2234671 | 5e-07 | CXCR1 | ? | |
| rs200288366 | 6e-07 | TAS2R43, TAS2R14, PRH1, PRR4 | ? | |
| rs1007175 | 1e-06 | LINC00359 | ? | |
| rs4899973 | 1e-06 | FOXN3 | ? | |
| rs12945036 | 1e-06 | RPH3AL | ? | |
| rs11883667 | 2e-06 | NCK2 - ECRG4 | ? | |
| rs79060400 | 2e-06 | OR9G1 | ? | |
| rs78550087 | 2e-06 | METTL25 - TMTC2 | ? | |
| rs4778107 | 4e-06 | RGMA - SEPHS1P2 | ? | |
| rs35342385 | 5e-06 | LINC02713 - CNTN5 | ? | |
| rs185197019 | 6e-06 | RNA5SP271 - KCNB2 | ? | |
| rs12134151 | 9e-06 | LINC02607 | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST005688 | Kuehn MH | 2018 | 63 | 0 | Genetic Survey of Adult-Onset Idiopathic Intracranial Hypertension. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 4 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 1 |
| Tier 4: intronic/intergenic | 10 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 14 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 0 |
| unknown | 1 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 7 |
| missense_variant | 4 |
| intergenic_variant | 2 |
| synonymous_variant | 1 |
| regulatory_region_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs9578751 | 13 | 24500352 | C>T | 0.05 | missense_variant | PARP4, TPTE2P6 | 1e-07 | Tier 1: coding |
| rs79642714 | 6 | 17605974 | G>A,T | 0.05 | missense_variant | FAM8A1 | 2e-07 | Tier 1: coding |
| rs55652507 | 5 | 155502654 | A>C | 0.05 | intron_variant | RPL6P32 - RNA5SP199 | 3e-07 | Tier 4: intronic/intergenic |
| rs2234671 | 2 | 218164385 | C>G,T | 0.05 | missense_variant | CXCR1 | 5e-07 | Tier 1: coding |
| rs200288366 | 12 | 11092003 | missense_variant | TAS2R43, TAS2R14, PRH1, PRR4 | 6e-07 | Tier 1: coding | ||
| rs1007175 | 13 | 96960285 | C>T | 0.05 | intron_variant | LINC00359 | 1e-06 | Tier 4: intronic/intergenic |
| rs4899973 | 14 | 89272011 | T>C | 0.05 | intron_variant | FOXN3 | 1e-06 | Tier 4: intronic/intergenic |
| rs12945036 | 17 | 230930 | C>A,G | 0.05 | intron_variant | RPH3AL | 1e-06 | Tier 4: intronic/intergenic |
| rs11883667 | 2 | 105933971 | T>A,C,G | 0.05 | intron_variant | NCK2 - ECRG4 | 2e-06 | Tier 4: intronic/intergenic |
| rs79060400 | 11 | 56701218 | C>T | 0.05 | synonymous_variant | OR9G1 | 2e-06 | Tier 4: intronic/intergenic |
| rs78550087 | 12 | 82669637 | A>G | 0.05 | intergenic_variant | METTL25 - TMTC2 | 2e-06 | Tier 4: intronic/intergenic |
| rs4778107 | 15 | 93130510 | C>G,T | 0.05 | intron_variant | RGMA - SEPHS1P2 | 4e-06 | Tier 4: intronic/intergenic |
| rs35342385 | 11 | 98135040 | C>A,G,T | 0.05 | intergenic_variant | LINC02713 - CNTN5 | 5e-06 | Tier 4: intronic/intergenic |
| rs185197019 | 8 | 72537054 | G>A,C,T | 0.05 | regulatory_region_variant | RNA5SP271 - KCNB2 | 6e-06 | Tier 3: regulatory |
| rs12134151 | 1 | 95736887 | G>C | 0.05 | intron_variant | LINC02607 | 9e-06 | Tier 4: intronic/intergenic |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 0 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Cohort genes → proteins
9 cohort genes, 8 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| gwas_only | 9 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| RPH3AL | HGNC:10296 | ENSG00000181031 | Q9UNE2 | Rab effector Noc2 | gwas |
| OR9G1 | HGNC:15319 | ENSG00000174914 | Q8NH87 | Olfactory receptor 9G1 | gwas |
| FAM8A1 | HGNC:16372 | ENSG00000137414 | Q9UBU6 | Protein FAM8A1 | gwas |
| TAS2R43 | HGNC:18875 | ENSG00000255374 | P59537 | Taste receptor type 2 member 43 | gwas |
| FOXN3 | HGNC:1928 | ENSG00000053254 | O00409 | Forkhead box protein N3 | gwas |
| PARP4 | HGNC:271 | ENSG00000102699 | Q9UKK3 | Protein mono-ADP-ribosyltransferase PARP4 | gwas |
| OR9G9 | HGNC:31940 | ENSG00000262191 | P0C7N8 | Olfactory receptor 9G9 | gwas |
| LINC00359 | HGNC:42679 | ENSG00000293326 | long intergenic non-protein coding RNA 359 | gwas | |
| CXCR1 | HGNC:6026 | ENSG00000163464 | P25024 | C-X-C chemokine receptor type 1 | gwas |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| RPH3AL | Rab effector Noc2 | Rab GTPase effector involved in the late steps of regulated exocytosis, both in endocrine and exocrine cells. |
| OR9G1 | Olfactory receptor 9G1 | Odorant receptor. |
| FAM8A1 | Protein FAM8A1 | Plays a role in the assembly of the HRD1 complex, a complex involved in the ubiquitin-proteasome-dependent process of ER-associated degradation (ERAD). |
| TAS2R43 | Taste receptor type 2 member 43 | Gustducin-coupled receptor immplicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. |
| FOXN3 | Forkhead box protein N3 | Acts as a transcriptional repressor. |
| PARP4 | Protein mono-ADP-ribosyltransferase PARP4 | Mono-ADP-ribosyltransferase that mediates mono-ADP-ribosylation of target proteins. |
| OR9G9 | Olfactory receptor 9G9 | Odorant receptor. |
| CXCR1 | C-X-C chemokine receptor type 1 | Receptor to interleukin-8, which is a powerful neutrophils chemotactic factor. |
Protein-family classification
Druggable: 4 · Difficult: 2 · Unknown: 3 · Druggable fraction: 0.44
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 |
|---|---|---|---|
| GPCR | 3 | 8.0× | 0.020 |
| Transcription factor | 2 | 1.8× | 0.598 |
| Enzyme (other) | 1 | 1.3× | 0.724 |
| Other/Unknown | 3 | 0.6× | 0.955 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| RPH3AL | Transcription factor | no | Rab_BD, Znf_FYVE_PHD, Znf_RING/FYVE/PHD | |
| OR9G1 | GPCR | yes | GPCR_Rhodpsn, Olfact_rcpt, GPCR_Rhodpsn_7TM | |
| FAM8A1 | Other/Unknown | no | RDD, FAM8A1 | |
| TAS2R43 | Other/Unknown | no | TAS2R | |
| FOXN3 | Transcription factor | no | Fork_head_dom, TF_fork_head_CS_1, TF_fork_head_CS_2 | |
| PARP4 | Enzyme (other) | yes | 2.4.2.30 | BRCT_dom, VWF_A, Poly(ADP-ribose)pol_reg_dom |
| OR9G9 | GPCR | yes | GPCR_Rhodpsn, Olfact_rcpt, GPCR_Rhodpsn_7TM | |
| LINC00359 | Other/Unknown | no | ||
| CXCR1 | GPCR | yes | Chemokine_CXCR_1/2, GPCR_Rhodpsn, Chemokine_CXCR1 |
Expression context
Cohort genes with no expression data: 2.
5 cohort genes are a single-cell marker in ≥1 SCXA experiment.
Breadth distribution (Bgee present_calls)
| Bucket | Genes |
|---|---|
| narrow (1-5 tissues) | 1 |
| moderate (6-20) | 0 |
| broad (>20) | 6 |
| unknown | 2 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | 2 |
| adenohypophysis | 1 |
| body of pancreas | 1 |
| pancreas | 1 |
| colonic epithelium | 1 |
| sural nerve | 1 |
| Brodmann (1909) area 23 | 1 |
| choroid plexus epithelium | 1 |
| middle temporal gyrus | 1 |
| adrenal tissue | 1 |
| hindlimb stylopod muscle | 1 |
| nipple | 1 |
| paraflocculus | 1 |
| tendon of biceps brachii | 1 |
| duodenum | 1 |
| monocyte | 1 |
| rectum | 1 |
| blood | 1 |
| granulocyte | 1 |
| type B pancreatic cell | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| RPH3AL | 160 | broad | marker | body of pancreas, adenohypophysis, pancreas |
| OR9G1 | 1 | yes | male germ line stem cell (sensu Vertebrata) in testis, sural nerve, colonic epithelium | |
| FAM8A1 | 298 | ubiquitous | marker | Brodmann (1909) area 23, middle temporal gyrus, choroid plexus epithelium |
| TAS2R43 | 95 | yes | male germ line stem cell (sensu Vertebrata) in testis, adrenal tissue, hindlimb stylopod muscle | |
| FOXN3 | 300 | ubiquitous | marker | paraflocculus, tendon of biceps brachii, nipple |
| PARP4 | 134 | ubiquitous | marker | rectum, duodenum, monocyte |
| OR9G9 | ||||
| LINC00359 | ||||
| CXCR1 | 148 | broad | marker | blood, granulocyte, type B pancreatic cell |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| CXCR1 | 2,224 |
| FOXN3 | 1,291 |
| PARP4 | 1,209 |
| FAM8A1 | 937 |
| RPH3AL | 801 |
| TAS2R43 | 372 |
| OR9G1 | 253 |
| OR9G9 | 0 |
| LINC00359 | 0 |
Structural data
PDB: 4 · AlphaFold-only: 4 · No structure: 1
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| PARP4 | Q9UKK3 | 12 |
| CXCR1 | P25024 | 5 |
| TAS2R43 | P59537 | 2 |
| FOXN3 | O00409 | 2 |
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| OR9G9 | P0C7N8 | 88.33 |
| OR9G1 | Q8NH87 | 85.61 |
| RPH3AL | Q9UNE2 | 68.57 |
| FAM8A1 | Q9UBU6 | 59.45 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 16. Enrichment computed across 9 evidence-associated genes (5 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 5 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| Maturation of nucleoprotein | 1 | 207.6× | 0.035 | PARP4 |
| Maturation of nucleoprotein | 1 | 152.3× | 0.035 | PARP4 |
| G alpha (i) signalling events | 2 | 15.6× | 0.035 | TAS2R43, CXCR1 |
| Nicotinate metabolism | 1 | 78.8× | 0.036 | PARP4 |
| Sensory perception of taste | 1 | 67.2× | 0.036 | TAS2R43 |
| Class C/3 (Metabotropic glutamate/pheromone receptors) | 1 | 58.6× | 0.036 | TAS2R43 |
| Sensory perception of sweet, bitter, and umami (glutamate) taste | 1 | 55.7× | 0.036 | TAS2R43 |
| Expression and translocation of olfactory receptors | 2 | 11.2× | 0.036 | OR9G1, OR9G9 |
| Chemokine receptors bind chemokines | 1 | 37.4× | 0.047 | CXCR1 |
| Olfactory Signaling Pathway | 1 | 28.9× | 0.055 | OR9G1 |
| Sensory Perception | 1 | 19.0× | 0.075 | TAS2R43 |
| GPCR ligand binding | 1 | 12.8× | 0.101 | TAS2R43 |
| GPCR downstream signalling | 1 | 8.7× | 0.135 | TAS2R43 |
| Signaling by GPCR | 1 | 8.0× | 0.136 | TAS2R43 |
| Neutrophil degranulation | 1 | 4.6× | 0.212 | CXCR1 |
| Signal Transduction | 1 | 2.0× | 0.404 | TAS2R43 |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 6 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| G protein-coupled receptor signaling pathway | 3 | 18.1× | 0.010 | RPH3AL, TAS2R43, CXCR1 |
| craniofacial suture morphogenesis | 1 | 280.9× | 0.026 | FOXN3 |
| positive regulation of calcium ion-dependent exocytosis | 1 | 216.1× | 0.026 | RPH3AL |
| calcium-dependent activation of synaptic vesicle fusion | 1 | 216.1× | 0.026 | RPH3AL |
| negative regulation of G protein-coupled receptor signaling pathway | 1 | 200.6× | 0.026 | RPH3AL |
| dendritic cell chemotaxis | 1 | 165.2× | 0.026 | CXCR1 |
| detection of chemical stimulus involved in sensory perception of bitter taste | 1 | 80.2× | 0.044 | TAS2R43 |
| mitotic G2 DNA damage checkpoint signaling | 1 | 73.9× | 0.044 | FOXN3 |
| receptor internalization | 1 | 54.0× | 0.053 | CXCR1 |
| neutrophil chemotaxis | 1 | 47.6× | 0.053 | CXCR1 |
| positive regulation of insulin secretion | 1 | 42.6× | 0.053 | RPH3AL |
| protein modification process | 1 | 40.7× | 0.053 | PARP4 |
| calcium-mediated signaling | 1 | 30.5× | 0.061 | CXCR1 |
| ERAD pathway | 1 | 30.2× | 0.061 | FAM8A1 |
| exocytosis | 1 | 25.3× | 0.067 | RPH3AL |
| glucose homeostasis | 1 | 21.8× | 0.073 | RPH3AL |
| positive regulation of cytosolic calcium ion concentration | 1 | 19.5× | 0.077 | CXCR1 |
| response to xenobiotic stimulus | 1 | 11.5× | 0.112 | PARP4 |
| intracellular protein transport | 1 | 10.8× | 0.112 | RPH3AL |
| cell surface receptor signaling pathway | 1 | 10.7× | 0.112 | CXCR1 |
| DNA repair | 1 | 10.6× | 0.112 | PARP4 |
| DNA damage response | 1 | 8.9× | 0.127 | PARP4 |
| immune response | 1 | 7.8× | 0.137 | CXCR1 |
| inflammatory response | 1 | 6.3× | 0.161 | PARP4 |
| regulation of DNA-templated transcription | 1 | 5.3× | 0.176 | FOXN3 |
| negative regulation of DNA-templated transcription | 1 | 5.3× | 0.176 | FOXN3 |
Therapeutics
Drugs indicated or in trials for this disease
No drug has an approved disease-direct ChEMBL indication for this disease.
2 drugs in clinical trials for this disease (phase 2–3, investigational): efficacy not established — a trial record, not an indication.
| Drug | Highest phase |
|---|---|
| Acetazolamide | Phase 3 |
| Semaglutide | Phase 3 |
Drug target analysis
Approved (phase 4): 3 · Phase ≥3: 3 · Phased (≥1): 3 · Undrugged: 6
Druggability breadth: 3 of 9 evidence-associated genes (33%) 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 |
|---|---|
| TAS2R43 | ISOPROTERENOL |
| PARP4 | NIRAPARIB |
| CXCR1 | DEXIBUPROFEN |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| CXCR1 | 9 | 4 |
| PARP4 | 6 | 4 |
| TAS2R43 | 1 | 4 |
| RPH3AL | 0 | 0 |
| OR9G1 | 0 | 0 |
| FAM8A1 | 0 | 0 |
| FOXN3 | 0 | 0 |
| OR9G9 | 0 | 0 |
| LINC00359 | 0 | 0 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| ISOPROTERENOL | 4 | TAS2R43 |
| NIRAPARIB | 4 | PARP4 |
| RUCAPARIB | 4 | PARP4 |
| TALAZOPARIB | 4 | PARP4 |
| OLAPARIB | 4 | PARP4 |
| DEXIBUPROFEN | 4 | CXCR1 |
| DEXKETOPROFEN | 4 | CXCR1 |
| CLOTRIMAZOLE | 4 | CXCR1 |
| DICLOFENAC | 4 | CXCR1 |
| ITRACONAZOLE | 4 | CXCR1 |
| VELIPARIB | 3 | PARP4 |
| REPARIXIN | 3 | CXCR1 |
| QUERCETIN | 3 | CXCR1 |
| NAVARIXIN ANHYDROUS | 2 | CXCR1 |
| ATAMPARIB | 1 | PARP4 |
| (R)-IBUPROPHEN | 1 | CXCR1 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 1.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| CXCR1 | 120 | Binding:85, Functional:35 |
| PARP4 | 22 | Binding:22 |
| TAS2R43 | 10 | Functional:10 |
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| PARP4 | 2.4.2.30 | NAD+ ADP-ribosyltransferase |
Cohort genes with high screening signal
≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.
| Symbol | ChEMBL assays |
|---|---|
| CXCR1 | 120 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 8; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Chemical tractability of cohort targets
16 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) |
|---|---|---|
| ISOPROTERENOL | 4 | TAS2R43 |
| NIRAPARIB | 4 | PARP4 |
| RUCAPARIB | 4 | PARP4 |
| TALAZOPARIB | 4 | PARP4 |
| OLAPARIB | 4 | PARP4 |
| DEXIBUPROFEN | 4 | CXCR1 |
| DEXKETOPROFEN | 4 | CXCR1 |
| CLOTRIMAZOLE | 4 | CXCR1 |
| DICLOFENAC | 4 | CXCR1 |
| ITRACONAZOLE | 4 | CXCR1 |
| VELIPARIB | 3 | PARP4 |
| REPARIXIN | 3 | CXCR1 |
| QUERCETIN | 3 | CXCR1 |
| NAVARIXIN ANHYDROUS | 2 | CXCR1 |
| ATAMPARIB | 1 | PARP4 |
| (R)-IBUPROPHEN | 1 | CXCR1 |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 3 | TAS2R43, PARP4, CXCR1 |
| B | Phased (≥1) drug, not yet approved | 0 | |
| C | Druggable family + PDB, no drug | 0 | |
| D | Druggable family + AlphaFold only, no drug | 2 | OR9G1, OR9G9 |
| E | Difficult family or no structure, no drug | 4 | RPH3AL, FAM8A1, FOXN3, LINC00359 |
Undrugged target profiles
6 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| RPH3AL | 0 | — |
| OR9G1 | 0 | — |
| FAM8A1 | 0 | — |
| FOXN3 | 0 | — |
| OR9G9 | 0 | — |
| LINC00359 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 42.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 33 |
| PHASE3 | 3 |
| PHASE4 | 2 |
| PHASE2/PHASE3 | 1 |
| PHASE2 | 1 |
| PHASE1 | 1 |
| EARLY_PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT07191873 | PHASE4 | NOT_YET_RECRUITING | Tirzepatide in Idiopathic Intracranial Hypertension Trial |
| NCT06027567 | PHASE4 | COMPLETED | The Effect of an Anti-obesity Drug, Semaglutide, as Treatment in New-onset Idiopathic Intracranial Hypertension (IIH) Compared to Standard Weight Management (Dietician) With Regards to Change in Weight and Intracranial Pressure |
| NCT01003639 | PHASE2/PHASE3 | COMPLETED | Idiopathic Intracranial Hypertension Treatment Trial |
| NCT03501966 | PHASE3 | TERMINATED | Surgical Idiopathic Intracranial Hypertension Treatment Trial |
| NCT05347147 | PHASE3 | TERMINATED | A Trial to Determine the Efficacy and Safety of Presendin in IIH |
| NCT06361823 | PHASE3 | UNKNOWN | Exploratory Study on the Efficacy and Safety of Semaglutide for Idiopathic Intracranial Hypertension Treatment |
| NCT02017444 | PHASE2 | COMPLETED | Safety and Effectiveness of 11b-Hydroxysteroid Dehydrogenase Type 1 Inhibitor (AZD4017) to Treat Idiopathic Intracranial Hypertension. |
| NCT01407809 | PHASE1 | COMPLETED | Venous Sinus Stenting for Idiopathic Intracranial Hypertension Refractory to Medical Therapy |
| NCT03963336 | EARLY_PHASE1 | COMPLETED | Quantitative D-dimer Level and Anticoagulant Therapy in Idiopathic Intracranial Hypertension |
| NCT02896452 | Not specified | ACTIVE_NOT_RECRUITING | Astronaut Vision Issues in a Ground Analog Population: Polycystic Ovary Syndrome |
| NCT03096743 | Not specified | ACTIVE_NOT_RECRUITING | Evaluating Raised Intracranial Pressure Using MR Elastography |
| NCT03304314 | Not specified | RECRUITING | Multifocal Chromatic Pupilloperimetry in Patients With Pseudotumor Cerebri and Healthy Subjects. |
| NCT03556085 | Not specified | ACTIVE_NOT_RECRUITING | Venous Sinus Stenting With the River Stent in IIH |
| NCT04032379 | Not specified | RECRUITING | Diagnostic and Prognostic Biomarkers of Idiopathic Intracranial Hypertension |
| NCT05050864 | Not specified | RECRUITING | Stenting Versus Neurosurgical Treatment of Idiopathic Intracranial Hypertension. |
| NCT06059703 | Not specified | RECRUITING | Biomarkers in the Etiology of Idiopathic Intracranial Hypertension |
| NCT06436820 | Not specified | NOT_YET_RECRUITING | ICP & Outflow Study |
| NCT06545981 | Not specified | RECRUITING | Ocular Perfusion in Patients With Idiopathic Intracranial Hypertension |
| NCT06581185 | Not specified | ENROLLING_BY_INVITATION | Pseudotumor Cerebri Headache Ten Years Outcome |
| NCT06692790 | Not specified | RECRUITING | VEHICLE Registry: Venous Stenting for IIH in the MENA Region |
| NCT06833424 | Not specified | NOT_YET_RECRUITING | Dural Venous Sinus Stent in Idiopathic Intracranial Hypertension |
| NCT06855342 | Not specified | RECRUITING | Prospective Ocular Imaging for Intracranial Pressure Evaluation |
| NCT06856850 | Not specified | RECRUITING | Disease Biosignatures in ALS/FTD Spectrum: New Impactful Biological Perspectives Beyond Clinical Approaches |
| NCT06913712 | Not specified | RECRUITING | BMI in Idiopathic Intracranial Hypertension and Its Relationship With the Response to Treatment |
| NCT06919744 | Not specified | RECRUITING | Intracranial Venous Stenting Evaluation in Patients With Idiopathic Intracranial Hypertension in the Early Phase |
| NCT06945848 | Not specified | RECRUITING | Venous Stenting Evaluation in Patients With Intracranial Hypertension Under Long-term Acetazolamide |
| NCT06950099 | Not specified | RECRUITING | Advanced Neuroimaging in Idiopathic Intracranial Hypertension |
| NCT07561268 | Not specified | NOT_YET_RECRUITING | Stenting Of Symptomatic Cerebral siNus stenosIs With the laserCut Self-expanding SILANCE Stent |
| NCT00071903 | Not specified | COMPLETED | The Role of Susceptibility to Thrombosis in the Pseudotumor Cerebri of Nephropathic Cystinosis: A Case-Control Study |
| NCT01863381 | Not specified | TERMINATED | Comparison of Continuous Non-Invasive and Invasive Intracranial Pressure Measurement |
| NCT02124486 | Not specified | UNKNOWN | An RCT of Bariatric Surgery vs a Community Weight Loss Programme for the Sustained Treatment of IIH |
| NCT02143258 | Not specified | UNKNOWN | Stenting of Venous Sinus Stenosis for Medically Refractory Idiopathic Intracranial Hypertension |
| NCT02394067 | Not specified | COMPLETED | Magnetic Resonance Venography Pre- and Post-Treatment in Patients With Idiopathic Intracranial Hypertension |
| NCT02513914 | Not specified | SUSPENDED | Operative Procedures Vs. Endovascular Neurosurgery for Untreated Pseudotumor Trial |
| NCT02541994 | Not specified | TERMINATED | Axial Length and Central Corneal Thickness in Benign Intracranial Hypertension |
| NCT03867461 | Not specified | COMPLETED | The Effects of MAP and EtCO2 on Venous Sinus Pressures |
| NCT04309383 | Not specified | COMPLETED | ShuntCheck Performance Characteristics in Asymptomatic Pseudotumor Cerebri Patients |
| NCT04314128 | Not specified | COMPLETED | Assessment of ICP in Idiopathic Intracranial Hypertension Using Transocular Ultrasound and Transcranial Doppler |
| NCT04603118 | Not specified | COMPLETED | Optic Nerve Sheath Diameters in Idiopathic Intracranial Hypertension Patients |
| NCT04796935 | Not specified | COMPLETED | A Study to Test Performance of Needle Placements for Neuraxial Procedures Using Tactile Imaging vs Control |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| ACETAZOLAMIDE | 4 | 2 |
| SEMAGLUTIDE | 4 | 2 |
| TIRZEPATIDE | 4 | 1 |
| AZD-4017 | 2 | 1 |
| CHEMBL4556788 | 0 | 1 |
| CHEMBL4752331 | 0 | 1 |
| CHEMBL6147864 | 0 | 1 |
Related Atlas pages
- Cohort genes: RPH3AL, OR9G1, FAM8A1, TAS2R43, FOXN3, PARP4, OR9G9, LINC00359, CXCR1
- Drugs: Acetazolamide, Semaglutide, Tirzepatide