Hidradenitis suppurativa
diseaseOn this page
Also known as acne inversaacne inversa, familialectopic acnefox den diseasepyoderma fistulans significaverneuil disease
Summary
Hidradenitis suppurativa (MONDO:0006559) is a disease with 42 GWAS associations across 10 studies and 256 clinical trials. Top therapeutic interventions include adalimumab, bimekizumab, and brodalumab. A subtype of hidradenitis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- GWAS associations: 42
- Clinical trials: 256
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | hidradenitis suppurativa |
| Mondo ID | MONDO:0006559 |
| EFO | EFO:1000710 |
| MeSH | D017497 |
| Orphanet | 387 |
| DOID | DOID:2280 |
| ICD-10-CM | L73.2 |
| ICD-11 | 1621794154 |
| SNOMED CT | 59393003 |
| UMLS | C0162836 |
| MedGen | 57993 |
| Is cancer (heuristic) | no |
Also known as: acne inversa · acne inversa, familial · ectopic acne · fox den disease · hidradenitis suppurativa · pyoderma fistulans significa · verneuil disease
Data availability: 42 GWAS associations (10 studies).
Disease family
This is a subtype of hidradenitis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by developmental or physiological process › inflammatory disease › hidradenitis › hidradenitis suppurativa
Subtypes (1): familial acne inversa
Genetics & variants
GWAS landscape
42 GWAS associations across 10 studies. Top hits map to 12 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs17226067 | 5e-13 | RNU7-155P - MYL6P5 | G | 1.28 |
| rs73994810 | 7e-13 | RNU7-155P - MYL6P5 | T | 1.27 |
| rs981625 | 8e-13 | LINC00393 | C | 1.59 |
| rs3129879 | 1e-12 | HLA-DRA | A | 0.82 |
| rs142102013 | 2e-12 | LINC00393 | T | 0.72 |
| rs6457592 | 5e-12 | HLA-DRA - HLA-DRB9 | C | 1.19 |
| rs10512572 | 2e-11 | RNU7-155P - MYL6P5 | A | 1.19 |
| rs13302396 | 9e-11 | RPL36P14 - RPL36AP35 | T | 1.19 |
| rs1994799 | 1e-10 | RPL36P14 - RPL36AP35 | A | 1.17 |
| rs4713570 | 2e-10 | HLA-DQA1 - HLA-DQB1 | ? | |
| rs17090189 | 4e-10 | LINC00393 | ? | |
| rs1535620 | 7e-10 | CHCHD4P2 - RPL36P14 | G | 1.17 |
| rs9796066 | 1e-09 | PIBF1 | C | 1.18 |
| rs7048793 | 5e-09 | CHCHD4P2 - RPL36P14 | ? | |
| rs2097442 | 6e-09 | HLA-DRA - HLA-DRB9 | ? | |
| rs9265701 | 1e-08 | LINC02571 - HLA-B | A | 1.19 |
| rs12100281 | 2e-08 | LINC00393 | A | 1.31 |
| rs10146136 | 2e-08 | ATL1 | A | 1.25 |
| rs116212806 | 2e-08 | MOK | G | 1.87 |
| rs9901332 | 3e-08 | SNHG16 | T | 1.54 |
| rs11545042 | 3e-08 | PRKAR1B | G | 1.19 |
| rs55676755 | 3e-08 | CHRNA3 | G | 1.15 |
| rs2596546 | 3e-08 | HLA-B | ? | |
| rs2681502 | 4e-08 | AADACL2-AS1 | C | 1.35 |
| rs150315199 | 4e-08 | MED15P5 - MTND1P29 | G | 1.94 |
| rs11643425 | 5e-08 | XYLT1 | T | 2.59 |
| chr18:36276925 | 2e-07 | A | 1.12 | |
| chr18:36266634 | 4e-07 | C | 1.12 | |
| chr12:72761614 | 5e-07 | A | 1.24 | |
| chr12:72800071 | 6e-07 | AT | 1.25 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90726609 | Peacker BL | 2026 | 2,864 | 1,315,903 | Multi-omics analyses prioritize disease genes and pathways in hidradenitis suppurativa. |
| GCST90837342 | Argyropoulou M | 2026 | 1,678 | 476,485 | Genomic and proteomic insights into hidradenitis suppurativa. |
| GCST90652484 | Broadaway KA | 2025 | 1,218 | 48,545 | Genomic loci and molecular genetic mechanisms for hidradenitis suppurativa. |
| GCST90652485 | Broadaway KA | 2025 | 1,218 | 48,545 | Genomic loci and molecular genetic mechanisms for hidradenitis suppurativa. |
| GCST90281023 | Sun Q | 2023 | 317 | 3,868 | Genetic Variants Associated With Hidradenitis Suppurativa. |
| GCST90487900 | Moltrasio C | 2024 | 256 | 1,397 | Polygenic Score: A Tool for Evaluating the Genetic Background of Sporadic Hidradenitis Suppurativa. |
| GCST90281024 | Sun Q | 2023 | 247 | 0 | Genetic Variants Associated With Hidradenitis Suppurativa. |
| GCST90726883 | Kim HI | 2026 | 218 | 43,808 | Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity. |
| GCST90652486 | Broadaway KA | 2025 | 0 | 0 | Genomic loci and molecular genetic mechanisms for hidradenitis suppurativa. |
| GCST90278188 | Sun Q | 2023 | 0 | 0 | Genetic Variants Associated With Hidradenitis Suppurativa. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 0 |
| Tier 2: splice/UTR | 1 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 33 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 24 |
| low_freq (0.01-0.05) | 2 |
| rare (<0.01) | 1 |
| unknown | 7 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 20 |
| unknown | 7 |
| intergenic_variant | 4 |
| synonymous_variant | 1 |
| non_coding_transcript_exon_variant | 1 |
| 3_prime_UTR_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs17226067 | 17 | 71519473 | A>C,G | 0.16 | intron_variant | RNU7-155P - MYL6P5 | 5e-13 | Tier 4: intronic/intergenic |
| rs73994810 | 17 | 71514339 | C>A,G,T | 0.08 | intron_variant | RNU7-155P - MYL6P5 | 7e-13 | Tier 4: intronic/intergenic |
| rs981625 | 13 | 73465798 | C>G | 0.056 | intron_variant | LINC00393 | 8e-13 | Tier 4: intronic/intergenic |
| rs3129879 | 6 | 32441130 | G>A | 0.402 | intron_variant | HLA-DRA | 1e-12 | Tier 4: intronic/intergenic |
| rs142102013 | 13 | 73453253 | C>A,T | 0.072 | intron_variant | LINC00393 | 2e-12 | Tier 4: intronic/intergenic |
| rs6457592 | 6 | 32458206 | T>C,G | 0.47 | intron_variant | HLA-DRA - HLA-DRB9 | 5e-12 | Tier 4: intronic/intergenic |
| rs10512572 | 17 | 71515958 | G>A | 0.13 | intron_variant | RNU7-155P - MYL6P5 | 2e-11 | Tier 4: intronic/intergenic |
| rs13302396 | 9 | 108644693 | C>G,T | 0.452 | intergenic_variant | RPL36P14 - RPL36AP35 | 9e-11 | Tier 4: intronic/intergenic |
| rs1994799 | 9 | 108669370 | G>A,C | 0.44 | intergenic_variant | RPL36P14 - RPL36AP35 | 1e-10 | Tier 4: intronic/intergenic |
| rs4713570 | 6 | 32658263 | C>G,T | 0.05 | intergenic_variant | HLA-DQA1 - HLA-DQB1 | 2e-10 | Tier 4: intronic/intergenic |
| rs17090189 | 13 | 73432270 | A>G | 0.05 | intron_variant | LINC00393 | 4e-10 | Tier 4: intronic/intergenic |
| rs1535620 | 9 | 108356760 | G>A,C,T | 0.49 | intron_variant | CHCHD4P2 - RPL36P14 | 7e-10 | Tier 4: intronic/intergenic |
| rs9796066 | 13 | 72895195 | T>A,C,G | 0.37 | intron_variant | PIBF1 | 1e-09 | Tier 4: intronic/intergenic |
| rs7048793 | 9 | 108399927 | A>T | 0.05 | intron_variant | CHCHD4P2 - RPL36P14 | 5e-09 | Tier 4: intronic/intergenic |
| rs2097442 | 6 | 32454414 | G>A,T | 0.05 | intron_variant | HLA-DRA - HLA-DRB9 | 6e-09 | Tier 4: intronic/intergenic |
| rs9265701 | 6 | 31333994 | A>G,T | 0.47 | intron_variant | LINC02571 - HLA-B | 1e-08 | Tier 4: intronic/intergenic |
| rs12100281 | 13 | 73464788 | G>A | 0.09 | intron_variant | LINC00393 | 2e-08 | Tier 4: intronic/intergenic |
| rs10146136 | 14 | 50612708 | G>A | 0.13 | intron_variant | ATL1 | 2e-08 | Tier 4: intronic/intergenic |
| rs116212806 | 14 | 102252905 | A>G | 0.025 | intron_variant | MOK | 2e-08 | Tier 4: intronic/intergenic |
| rs9901332 | 17 | 76656892 | T>A,C | 0.39 | intron_variant | SNHG16 | 3e-08 | Tier 4: intronic/intergenic |
| rs11545042 | 7 | 550562 | A>G | 0.162 | synonymous_variant | PRKAR1B | 3e-08 | Tier 4: intronic/intergenic |
| rs55676755 | 15 | 78606590 | C>G | 0.331 | intron_variant | CHRNA3 | 3e-08 | Tier 4: intronic/intergenic |
| rs2596546 | 6 | 31361609 | A>G | 0.05 | non_coding_transcript_exon_variant | HLA-B | 3e-08 | Tier 4: intronic/intergenic |
| rs2681502 | 3 | 151888193 | T>C | 0.06 | intron_variant | AADACL2-AS1 | 4e-08 | Tier 4: intronic/intergenic |
| rs150315199 | 2 | 130256019 | A>C,G | 0.013 | intergenic_variant | MED15P5 - MTND1P29 | 4e-08 | Tier 4: intronic/intergenic |
| rs11643425 | 16 | 17157935 | G>A,T | 0.003 | intron_variant | XYLT1 | 5e-08 | Tier 4: intronic/intergenic |
| chr18:36276925 | 2e-07 | Tier 4: intronic/intergenic | ||||||
| chr18:36266634 | 4e-07 | Tier 4: intronic/intergenic | ||||||
| chr12:72761614 | 5e-07 | Tier 4: intronic/intergenic | ||||||
| chr12:72800071 | 6e-07 | Tier 4: intronic/intergenic |
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
Drugs indicated for this disease
1 approved, 9 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
| Drug | Development status |
|---|---|
| Adalimumab | Approved (phase 4) |
| Bimekizumab | Phase 3 (in late-stage trials) |
| Izokibep | Phase 3 (in late-stage trials) |
| Lutikizumab | Phase 3 (in late-stage trials) |
| M-1095 | Phase 3 (in late-stage trials) |
| Metformin | Phase 3 (in late-stage trials) |
| Metronidazole | Phase 3 (in late-stage trials) |
| Povorcitinib | Phase 3 (in late-stage trials) |
| Secukinumab | Phase 3 (in late-stage trials) |
| Upadacitinib | Phase 3 (in late-stage trials) |
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Anakinra, Anifrolumab, Apremilast, Avacopan, Bermekimab, Brepocitinib, Brodalumab, Cannabinol, Drospirenone, Etanercept, Ethinyl Estradiol, Fostamatinib, Guselkumab, Ianalumab, Imsidolimab, Infliximab, MAS-825, Risankizumab, Ruxolitinib, Sodium Chloride, Spesolimab, Ustekinumab, Vilobelimab.
Clinical trials & evidence
Clinical trials
Clinical trials: 256.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 110 |
| PHASE2 | 74 |
| PHASE3 | 29 |
| PHASE1 | 14 |
| PHASE4 | 10 |
| EARLY_PHASE1 | 10 |
| PHASE1/PHASE2 | 6 |
| PHASE2/PHASE3 | 3 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT07261072 | PHASE4 | NOT_YET_RECRUITING | Comparison of the Clinical Efficacy and Safety of Topical and Subcutaneous Injection of Secukinumab in HS |
| NCT07489573 | PHASE4 | NOT_YET_RECRUITING | Study of Efficacy and Safety of Secukinumab in Chinese Adult Patients With Moderate to Severe Hidradenitis Suppurativa |
| NCT07554014 | PHASE4 | NOT_YET_RECRUITING | A Single-center, Prospective, Self-controlled, Observational Real-world Study of the Efficacy and Safety of Anti-IL-17A/F Monoclonal Antibody Combined With Non-ablative Dot Laser for the Treatment of Mild to Moderate Hidradenitis Suppurativa |
| NCT02808975 | PHASE4 | COMPLETED | Safety and Efficacy of Adalimumab (Humira) for Hidradenitis Suppurativa (HS) Peri-Surgically |
| NCT03221621 | PHASE4 | UNKNOWN | Cost-effectiveness of Adalimumab and Surgery vs Adalimumab in HS |
| NCT04100083 | PHASE4 | WITHDRAWN | Spironolactone for Hidradenitis Suppurativa |
| NCT04132388 | PHASE4 | WITHDRAWN | Hidradenitis Suppurativa Patient Experience With Humira Treatment |
| NCT04582669 | PHASE4 | TERMINATED | Optimizing Intralesional Triamcinolone Dosing for Hidradenitis Suppurativa |
| NCT05477225 | PHASE4 | UNKNOWN | A Randomized, Controlled Trial Comparing the Use of a Biodegradable Temporizing Matrix to Cadaver Skin in the Reconstruction of Hidradenitis Suppurativa Excisions |
| NCT06237465 | PHASE4 | WITHDRAWN | Botulinum Toxin-A for Hidradenitis Suppurativa |
| NCT04179175 | PHASE3 | ACTIVE_NOT_RECRUITING | Extension Study to Assess Effects of Non-interrupted Versus Interrupted and Long Term Treatment of Two Dose Regimes of Secukinumab in Subjects With Hidradenitis Suppurativa |
| NCT04901195 | PHASE3 | ACTIVE_NOT_RECRUITING | A Study to Test the Long-term Treatment of Bimekizumab in Study Participants With Moderate to Severe Hidradenitis Suppurativa |
| NCT05821478 | PHASE3 | RECRUITING | Efficacy of an Adapted Antibiotherapy in Hurley Stage 2 Hidradenitis Suppurativa Patients |
| NCT05889182 | PHASE3 | RECRUITING | A Study to Assess Change in Disease Activity and Adverse Events of Oral Upadacitinib in Adult and Adolescent Participants With Moderate to Severe Hidradenitis Suppurativa Who Have Failed Anti-TNF Therapy |
| NCT06212999 | PHASE3 | ACTIVE_NOT_RECRUITING | A Study to Evaluate the Long-Term Safety and Efficacy of Povorcitinib in Participants With Moderate to Severe Hidradenitis Suppurativa |
| NCT06411379 | PHASE3 | ACTIVE_NOT_RECRUITING | Study to Evaluate the Efficacy and Safety of Subcutaneous Sonelokimab Compared With Placebo in Adult Participants With Moderate to Severe Hidradenitis Suppurativa |
| NCT06411899 | PHASE3 | ACTIVE_NOT_RECRUITING | A Study to Evaluate the Efficacy and Safety of Subcutaneous Sonelokimab Compared With Placebo in Adult Participants With Moderate to Severe Hidradenitis Suppurativa |
| NCT06468228 | PHASE3 | ACTIVE_NOT_RECRUITING | A Study to Assess Disease Activity and Safety of Lutikizumab in Adult and Adolescent Participants With Moderate to Severe Hidradenitis Suppurativa |
| NCT06768671 | PHASE3 | ACTIVE_NOT_RECRUITING | An Open-label, Single-arm Study to Evaluate Pharmacokinetics and Safety of Subcutaneous Sonelokimab in Adolescents With Moderate to Severe Hidradenitis Suppurativa (VELA-TEEN) |
| NCT06799000 | PHASE3 | ACTIVE_NOT_RECRUITING | A Phase 3 Study to Assess Efficacy Safety and Tolerability of Remibrutinib in Adult and Adolescent Patients With Moderate to Severe Hidradenitis Suppurativa (RECHARGE 1) |
| NCT06840392 | PHASE3 | RECRUITING | A Phase 3 Study to Assess Efficacy Safety and Tolerability of Remibrutinib in Adult and Adolescent Patients With Moderate to Severe Hidradenitis Suppurativa |
| NCT06855498 | PHASE3 | RECRUITING | Rollover Study for Participants Previously Enrolled in Clinical Trials of Povorcitinib |
| NCT06921850 | PHASE3 | RECRUITING | A Study to Assess the Pharmacokinetics and Safety of Bimekizumab in Children and Adolescents With Moderate to Severe Hidradenitis Suppurativa |
| NCT06958211 | PHASE3 | RECRUITING | Study to Evaluate the Efficacy and Safety of Ruxolitinib Cream in Participants With Hidradenitis Suppurativa (TRuE-HS2) |
| NCT06959225 | PHASE3 | RECRUITING | Study to Evaluate the Efficacy and Safety of Ruxolitinib Cream in Participants With Hidradenitis Suppurativa (TRuE-HS1) |
| NCT07007637 | PHASE3 | ENROLLING_BY_INVITATION | A Study to Evaluate the Long-term Safety, Tolerability, and Efficacy of Subcutaneous Sonelokimab in Participants With Moderate to Severe Hidradenitis Suppurativa |
| NCT07287644 | PHASE2/PHASE3 | RECRUITING | A Study Evaluating BFB759 in Moderate to Severe Hidradenitis Suppurativa |
| NCT00367328 | PHASE3 | TERMINATED | To Determine the Efficacy of a Laser Device for the Treatment of Hidradenitis Suppurativa |
| NCT01468207 | PHASE3 | COMPLETED | Efficacy and Safety Study of Adalimumab in Treatment of Hidradenitis Suppurativa |
| NCT01468233 | PHASE3 | COMPLETED | Efficacy and Safety Study of Adalimumab in the Treatment of Hidradenitis Suppurativa |
| NCT01635764 | PHASE3 | COMPLETED | Open-label Study of the Safety and Efficacy of Adalimumab in the Treatment of Hidradenitis Suppurativa |
| NCT02904902 | PHASE3 | COMPLETED | Open-label Study of Adalimumab in Japanese Subjects With Hidradenitis Suppurativa |
| NCT03713619 | PHASE3 | COMPLETED | This Was a Study of Efficacy and Safety of Two Secukinumab Dose Regimens in Subjects With Moderate to Severe Hidradenitis Suppurativa (HS). |
| NCT03713632 | PHASE3 | COMPLETED | Study of Efficacy and Safety of Two Secukinumab Dose Regimens in Subjects With Moderate to Severe Hidradenitis Suppurativa (HS) |
| NCT04242446 | PHASE3 | COMPLETED | A Study to Evaluate the Efficacy and Safety of Bimekizumab in Study Participants With Moderate to Severe Hidradenitis Suppurativa |
| NCT04242498 | PHASE3 | COMPLETED | A Study to Evaluate the Efficacy and Safety of Bimekizumab in Study Participants With Moderate to Severe Hidradenitis Suppurativa |
| NCT04649502 | PHASE3 | COMPLETED | Metformin for the Treatment of Hidradenitis Suppurativa (HS) |
| NCT05620823 | PHASE3 | COMPLETED | A Study to Evaluate the Efficacy and Safety of Povorcitinib (INCB054707) in Participants With Moderate to Severe Hidradenitis Suppurativa |
| NCT05620836 | PHASE3 | COMPLETED | A Study to Evaluate the Efficacy and Safety of Povorcitinib (INCB054707) in Participants With Moderate to Severe Hidradenitis Suppurativa (HS) |
| NCT05819398 | PHASE2/PHASE3 | COMPLETED | Lunsayil 1: A Study to Test Whether Spesolimab Helps People With a Skin Disease Called Hidradenitis Suppurativa |
Drugs tested across these trials (top 30)
Related Atlas pages
- Drugs: Adalimumab, Bimekizumab, Brodalumab, Secukinumab, Cravacitinib, Spesolimab, Anakinra, Apremilast, Fostamatinib, Guselkumab, Roflumilast, Ruxolitinib, Upadacitinib, Anifrolumab, Avacopan, Botulinum Toxin Type A, Ceftriaxone, Clindamycin, Drospirenone, Efalizumab, Ertapenem, Gentian Violet, Lidocaine, Rifampin, Rimabotulinumtoxinb, Risankizumab, Ritlecitinib, Spironolactone, Tofacitinib, Triamcinolone