Hidradenitis suppurativa

disease
On 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

FieldValue
Canonical namehidradenitis suppurativa
Mondo IDMONDO:0006559
EFOEFO:1000710
MeSHD017497
Orphanet387
DOIDDOID:2280
ICD-10-CML73.2
ICD-111621794154
SNOMED CT59393003
UMLSC0162836
MedGen57993
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 diseasehidradenitishidradenitis 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

rsIDp-valueGeneRisk alleleOdds ratio
rs172260675e-13RNU7-155P - MYL6P5G1.28
rs739948107e-13RNU7-155P - MYL6P5T1.27
rs9816258e-13LINC00393C1.59
rs31298791e-12HLA-DRAA0.82
rs1421020132e-12LINC00393T0.72
rs64575925e-12HLA-DRA - HLA-DRB9C1.19
rs105125722e-11RNU7-155P - MYL6P5A1.19
rs133023969e-11RPL36P14 - RPL36AP35T1.19
rs19947991e-10RPL36P14 - RPL36AP35A1.17
rs47135702e-10HLA-DQA1 - HLA-DQB1?
rs170901894e-10LINC00393?
rs15356207e-10CHCHD4P2 - RPL36P14G1.17
rs97960661e-09PIBF1C1.18
rs70487935e-09CHCHD4P2 - RPL36P14?
rs20974426e-09HLA-DRA - HLA-DRB9?
rs92657011e-08LINC02571 - HLA-BA1.19
rs121002812e-08LINC00393A1.31
rs101461362e-08ATL1A1.25
rs1162128062e-08MOKG1.87
rs99013323e-08SNHG16T1.54
rs115450423e-08PRKAR1BG1.19
rs556767553e-08CHRNA3G1.15
rs25965463e-08HLA-B?
rs26815024e-08AADACL2-AS1C1.35
rs1503151994e-08MED15P5 - MTND1P29G1.94
rs116434255e-08XYLT1T2.59
chr18:362769252e-07A1.12
chr18:362666344e-07C1.12
chr12:727616145e-07A1.24
chr12:728000716e-07AT1.25

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST90726609Peacker BL20262,8641,315,903Multi-omics analyses prioritize disease genes and pathways in hidradenitis suppurativa.
GCST90837342Argyropoulou M20261,678476,485Genomic and proteomic insights into hidradenitis suppurativa.
GCST90652484Broadaway KA20251,21848,545Genomic loci and molecular genetic mechanisms for hidradenitis suppurativa.
GCST90652485Broadaway KA20251,21848,545Genomic loci and molecular genetic mechanisms for hidradenitis suppurativa.
GCST90281023Sun Q20233173,868Genetic Variants Associated With Hidradenitis Suppurativa.
GCST90487900Moltrasio C20242561,397Polygenic Score: A Tool for Evaluating the Genetic Background of Sporadic Hidradenitis Suppurativa.
GCST90281024Sun Q20232470Genetic Variants Associated With Hidradenitis Suppurativa.
GCST90726883Kim HI202621843,808Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity.
GCST90652486Broadaway KA202500Genomic loci and molecular genetic mechanisms for hidradenitis suppurativa.
GCST90278188Sun Q202300Genetic Variants Associated With Hidradenitis Suppurativa.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

TierVariants
Tier 1: coding0
Tier 2: splice/UTR1
Tier 3: regulatory0
Tier 4: intronic/intergenic33

MAF distribution

BucketVariants
common (>=0.05)24
low_freq (0.01-0.05)2
rare (<0.01)1
unknown7

Functional consequences

ConsequenceCount
intron_variant20
unknown7
intergenic_variant4
synonymous_variant1
non_coding_transcript_exon_variant1
3_prime_UTR_variant1

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
rs172260671771519473A>C,G0.16intron_variantRNU7-155P - MYL6P55e-13Tier 4: intronic/intergenic
rs739948101771514339C>A,G,T0.08intron_variantRNU7-155P - MYL6P57e-13Tier 4: intronic/intergenic
rs9816251373465798C>G0.056intron_variantLINC003938e-13Tier 4: intronic/intergenic
rs3129879632441130G>A0.402intron_variantHLA-DRA1e-12Tier 4: intronic/intergenic
rs1421020131373453253C>A,T0.072intron_variantLINC003932e-12Tier 4: intronic/intergenic
rs6457592632458206T>C,G0.47intron_variantHLA-DRA - HLA-DRB95e-12Tier 4: intronic/intergenic
rs105125721771515958G>A0.13intron_variantRNU7-155P - MYL6P52e-11Tier 4: intronic/intergenic
rs133023969108644693C>G,T0.452intergenic_variantRPL36P14 - RPL36AP359e-11Tier 4: intronic/intergenic
rs19947999108669370G>A,C0.44intergenic_variantRPL36P14 - RPL36AP351e-10Tier 4: intronic/intergenic
rs4713570632658263C>G,T0.05intergenic_variantHLA-DQA1 - HLA-DQB12e-10Tier 4: intronic/intergenic
rs170901891373432270A>G0.05intron_variantLINC003934e-10Tier 4: intronic/intergenic
rs15356209108356760G>A,C,T0.49intron_variantCHCHD4P2 - RPL36P147e-10Tier 4: intronic/intergenic
rs97960661372895195T>A,C,G0.37intron_variantPIBF11e-09Tier 4: intronic/intergenic
rs70487939108399927A>T0.05intron_variantCHCHD4P2 - RPL36P145e-09Tier 4: intronic/intergenic
rs2097442632454414G>A,T0.05intron_variantHLA-DRA - HLA-DRB96e-09Tier 4: intronic/intergenic
rs9265701631333994A>G,T0.47intron_variantLINC02571 - HLA-B1e-08Tier 4: intronic/intergenic
rs121002811373464788G>A0.09intron_variantLINC003932e-08Tier 4: intronic/intergenic
rs101461361450612708G>A0.13intron_variantATL12e-08Tier 4: intronic/intergenic
rs11621280614102252905A>G0.025intron_variantMOK2e-08Tier 4: intronic/intergenic
rs99013321776656892T>A,C0.39intron_variantSNHG163e-08Tier 4: intronic/intergenic
rs115450427550562A>G0.162synonymous_variantPRKAR1B3e-08Tier 4: intronic/intergenic
rs556767551578606590C>G0.331intron_variantCHRNA33e-08Tier 4: intronic/intergenic
rs2596546631361609A>G0.05non_coding_transcript_exon_variantHLA-B3e-08Tier 4: intronic/intergenic
rs26815023151888193T>C0.06intron_variantAADACL2-AS14e-08Tier 4: intronic/intergenic
rs1503151992130256019A>C,G0.013intergenic_variantMED15P5 - MTND1P294e-08Tier 4: intronic/intergenic
rs116434251617157935G>A,T0.003intron_variantXYLT15e-08Tier 4: intronic/intergenic
chr18:362769252e-07Tier 4: intronic/intergenic
chr18:362666344e-07Tier 4: intronic/intergenic
chr12:727616145e-07Tier 4: intronic/intergenic
chr12:728000716e-07Tier 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.

DrugDevelopment status
AdalimumabApproved (phase 4)
BimekizumabPhase 3 (in late-stage trials)
IzokibepPhase 3 (in late-stage trials)
LutikizumabPhase 3 (in late-stage trials)
M-1095Phase 3 (in late-stage trials)
MetforminPhase 3 (in late-stage trials)
MetronidazolePhase 3 (in late-stage trials)
PovorcitinibPhase 3 (in late-stage trials)
SecukinumabPhase 3 (in late-stage trials)
UpadacitinibPhase 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)

PhaseTrials
Not specified110
PHASE274
PHASE329
PHASE114
PHASE410
EARLY_PHASE110
PHASE1/PHASE26
PHASE2/PHASE33

Top trials by phase / activity

NCTPhaseStatusTitle
NCT07261072PHASE4NOT_YET_RECRUITINGComparison of the Clinical Efficacy and Safety of Topical and Subcutaneous Injection of Secukinumab in HS
NCT07489573PHASE4NOT_YET_RECRUITINGStudy of Efficacy and Safety of Secukinumab in Chinese Adult Patients With Moderate to Severe Hidradenitis Suppurativa
NCT07554014PHASE4NOT_YET_RECRUITINGA 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
NCT02808975PHASE4COMPLETEDSafety and Efficacy of Adalimumab (Humira) for Hidradenitis Suppurativa (HS) Peri-Surgically
NCT03221621PHASE4UNKNOWNCost-effectiveness of Adalimumab and Surgery vs Adalimumab in HS
NCT04100083PHASE4WITHDRAWNSpironolactone for Hidradenitis Suppurativa
NCT04132388PHASE4WITHDRAWNHidradenitis Suppurativa Patient Experience With Humira Treatment
NCT04582669PHASE4TERMINATEDOptimizing Intralesional Triamcinolone Dosing for Hidradenitis Suppurativa
NCT05477225PHASE4UNKNOWNA Randomized, Controlled Trial Comparing the Use of a Biodegradable Temporizing Matrix to Cadaver Skin in the Reconstruction of Hidradenitis Suppurativa Excisions
NCT06237465PHASE4WITHDRAWNBotulinum Toxin-A for Hidradenitis Suppurativa
NCT04179175PHASE3ACTIVE_NOT_RECRUITINGExtension Study to Assess Effects of Non-interrupted Versus Interrupted and Long Term Treatment of Two Dose Regimes of Secukinumab in Subjects With Hidradenitis Suppurativa
NCT04901195PHASE3ACTIVE_NOT_RECRUITINGA Study to Test the Long-term Treatment of Bimekizumab in Study Participants With Moderate to Severe Hidradenitis Suppurativa
NCT05821478PHASE3RECRUITINGEfficacy of an Adapted Antibiotherapy in Hurley Stage 2 Hidradenitis Suppurativa Patients
NCT05889182PHASE3RECRUITINGA 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
NCT06212999PHASE3ACTIVE_NOT_RECRUITINGA Study to Evaluate the Long-Term Safety and Efficacy of Povorcitinib in Participants With Moderate to Severe Hidradenitis Suppurativa
NCT06411379PHASE3ACTIVE_NOT_RECRUITINGStudy to Evaluate the Efficacy and Safety of Subcutaneous Sonelokimab Compared With Placebo in Adult Participants With Moderate to Severe Hidradenitis Suppurativa
NCT06411899PHASE3ACTIVE_NOT_RECRUITINGA Study to Evaluate the Efficacy and Safety of Subcutaneous Sonelokimab Compared With Placebo in Adult Participants With Moderate to Severe Hidradenitis Suppurativa
NCT06468228PHASE3ACTIVE_NOT_RECRUITINGA Study to Assess Disease Activity and Safety of Lutikizumab in Adult and Adolescent Participants With Moderate to Severe Hidradenitis Suppurativa
NCT06768671PHASE3ACTIVE_NOT_RECRUITINGAn Open-label, Single-arm Study to Evaluate Pharmacokinetics and Safety of Subcutaneous Sonelokimab in Adolescents With Moderate to Severe Hidradenitis Suppurativa (VELA-TEEN)
NCT06799000PHASE3ACTIVE_NOT_RECRUITINGA Phase 3 Study to Assess Efficacy Safety and Tolerability of Remibrutinib in Adult and Adolescent Patients With Moderate to Severe Hidradenitis Suppurativa (RECHARGE 1)
NCT06840392PHASE3RECRUITINGA Phase 3 Study to Assess Efficacy Safety and Tolerability of Remibrutinib in Adult and Adolescent Patients With Moderate to Severe Hidradenitis Suppurativa
NCT06855498PHASE3RECRUITINGRollover Study for Participants Previously Enrolled in Clinical Trials of Povorcitinib
NCT06921850PHASE3RECRUITINGA Study to Assess the Pharmacokinetics and Safety of Bimekizumab in Children and Adolescents With Moderate to Severe Hidradenitis Suppurativa
NCT06958211PHASE3RECRUITINGStudy to Evaluate the Efficacy and Safety of Ruxolitinib Cream in Participants With Hidradenitis Suppurativa (TRuE-HS2)
NCT06959225PHASE3RECRUITINGStudy to Evaluate the Efficacy and Safety of Ruxolitinib Cream in Participants With Hidradenitis Suppurativa (TRuE-HS1)
NCT07007637PHASE3ENROLLING_BY_INVITATIONA Study to Evaluate the Long-term Safety, Tolerability, and Efficacy of Subcutaneous Sonelokimab in Participants With Moderate to Severe Hidradenitis Suppurativa
NCT07287644PHASE2/PHASE3RECRUITINGA Study Evaluating BFB759 in Moderate to Severe Hidradenitis Suppurativa
NCT00367328PHASE3TERMINATEDTo Determine the Efficacy of a Laser Device for the Treatment of Hidradenitis Suppurativa
NCT01468207PHASE3COMPLETEDEfficacy and Safety Study of Adalimumab in Treatment of Hidradenitis Suppurativa
NCT01468233PHASE3COMPLETEDEfficacy and Safety Study of Adalimumab in the Treatment of Hidradenitis Suppurativa
NCT01635764PHASE3COMPLETEDOpen-label Study of the Safety and Efficacy of Adalimumab in the Treatment of Hidradenitis Suppurativa
NCT02904902PHASE3COMPLETEDOpen-label Study of Adalimumab in Japanese Subjects With Hidradenitis Suppurativa
NCT03713619PHASE3COMPLETEDThis Was a Study of Efficacy and Safety of Two Secukinumab Dose Regimens in Subjects With Moderate to Severe Hidradenitis Suppurativa (HS).
NCT03713632PHASE3COMPLETEDStudy of Efficacy and Safety of Two Secukinumab Dose Regimens in Subjects With Moderate to Severe Hidradenitis Suppurativa (HS)
NCT04242446PHASE3COMPLETEDA Study to Evaluate the Efficacy and Safety of Bimekizumab in Study Participants With Moderate to Severe Hidradenitis Suppurativa
NCT04242498PHASE3COMPLETEDA Study to Evaluate the Efficacy and Safety of Bimekizumab in Study Participants With Moderate to Severe Hidradenitis Suppurativa
NCT04649502PHASE3COMPLETEDMetformin for the Treatment of Hidradenitis Suppurativa (HS)
NCT05620823PHASE3COMPLETEDA Study to Evaluate the Efficacy and Safety of Povorcitinib (INCB054707) in Participants With Moderate to Severe Hidradenitis Suppurativa
NCT05620836PHASE3COMPLETEDA Study to Evaluate the Efficacy and Safety of Povorcitinib (INCB054707) in Participants With Moderate to Severe Hidradenitis Suppurativa (HS)
NCT05819398PHASE2/PHASE3COMPLETEDLunsayil 1: A Study to Test Whether Spesolimab Helps People With a Skin Disease Called Hidradenitis Suppurativa

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
ADALIMUMAB415
BIMEKIZUMAB46
BRODALUMAB44
SECUKINUMAB44
CRAVACITINIB43
SPESOLIMAB43
ANAKINRA42
APREMILAST42
FOSTAMATINIB42
GUSELKUMAB42
ROFLUMILAST42
RUXOLITINIB42
UPADACITINIB42
ANIFROLUMAB41
AVACOPAN41
BOTULINUM TOXIN TYPE A41
CEFTRIAXONE SODIUM41
CLINDAMYCIN HYDROCHLORIDE41
DROSPIRENONE41
EFALIZUMAB41
ERTAPENEM41
GENTIAN VIOLET41
LIDOCAINE HYDROCHLORIDE41
RIFAMPIN41
RIMABOTULINUMTOXINB41
RISANKIZUMAB41
RITLECITINIB41
SPIRONOLACTONE41
TOFACITINIB CITRATE41
TRIAMCINOLONE41