Hidradenitis

Summary

Hidradenitis (MONDO:0002260) is a disease with 3 GWAS associations across 5 studies and 10 clinical trials. Top therapeutic interventions include anifrolumab, hydroxychloroquine, and amlitelimab. A subtype of inflammatory disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 3
• Clinical trials: 10

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	hidradenitis
Mondo ID	MONDO:0002260
MeSH	D016575
DOID	DOID:2282
NCIT	C32132
SNOMED CT	69741000
UMLS	C0085160
MedGen	43115
Is cancer (heuristic)	no

Also known as: apocrine sweat gland · apocrine sweat gland inflammation · inflammation of apocrine sweat gland

Data availability: 3 GWAS associations (5 studies).

Disease family

This is a subtype of inflammatory disease. 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

Related subtypes (93): chorioamnionitis, pyometritis, uvulitis, mastoiditis, pelvic inflammatory disease, tonsillitis, nasopharyngitis, petrositis, nephritis, esophagitis, geniculate ganglionitis, epicondylitis, labyrinthitis, lymphadenitis, cheilitis, neuritis, vaginitis, hepatitis, pharyngitis, gastroenteritis, dermatitis, bursitis, laryngitis, keratitis, endocervicitis, conjunctivitis, spondylitis, thyroiditis, diverticulitis, neuronitis, mediastinitis, epididymitis, blepharitis, cholangitis, dacryoadenitis, fasciitis, chronic inflammation of lacrimal passage, dacryocystitis, periostitis, gastritis, pancreatitis, periodontitis, encephalomyelitis, placental villitis, prostatitis, urethritis, otitis media, perianal Crohn disease, proctitis, arthritic joint disease, oral tuberculosis, parotitis, pericarditis, sinusitis, cystitis, panniculitis, balanitis, chronic inflammatory demyelinating polyradiculoneuropathy, glossitis, mastitis, oophoritis, orchitis, perinephritis, pulpitis, rheumatic heart disease, vulvitis, thromboangiitis obliterans, STING-associated vasculopathy with onset in infancy, endophthalmitis, chronic granulomatous disease, IgG4-related pachymeningitis, vasculitis, chronic pneumonitis of infancy, uveitis, mucositis, amnionitis, diaphragmitis, gonococcal cervicitis, posthitis, myositis disease, omphalitis, ear infection, radiculitis, tracheobronchitis, ureteritis, enthesitis, inflammation of heart layer, serositis, pneumonitis, immune reconstitution inflammatory syndrome, multiple evanescent white dot syndrome, isolated anogenital granulomatosis, myelin oligodendrocyte glycoprotein antibody-associated disease

Subtypes (1): hidradenitis suppurativa

Genetics & variants

GWAS landscape

3 GWAS associations across 5 studies. Top hits map to 5 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs527882258	3e-12	AGBL4	T	3.47
rs368163962	4e-11	PCA3, PRUNE2	C	3.43
rs117859692	4e-11	RAD51B-AS1, RAD51B	C	2.82

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90478834	Verma A	2024	1,241	448,839	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90478833	Verma A	2024	1,079	119,888	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480478	Verma A	2024	1,079	119,888	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90482363	Verma A	2024	271	59,419	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90436629	Zhou W	2018	187	399,255	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	3

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	0
rare (<0.01)	3
unknown	0

Functional consequences

Consequence	Count
intron_variant	3

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs527882258	1	48570232	T>A	0	intron_variant	AGBL4	3e-12	Tier 4: intronic/intergenic
rs368163962	9	76802496	C>G	0	intron_variant	PCA3, PRUNE2	4e-11	Tier 4: intronic/intergenic
rs117859692	14	68682335	C>G	0.001	intron_variant	RAD51B-AS1, RAD51B	4e-11	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

No approved or late-stage (phase ≥3) drug is indicated for this disease; the following are in earlier-phase trials only.

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Amlitelimab.

Clinical trials & evidence

Clinical trials

Clinical trials: 10.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	6
PHASE2	3
PHASE1/PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT06374212	PHASE2	ACTIVE_NOT_RECRUITING	Anifrolumab for Hidradenitis Suppurativa
NCT03275870	PHASE1/PHASE2	COMPLETED	Hydroxychloroquine for the Treatment of Hidradenitis Suppurativa
NCT06118099	PHASE2	TERMINATED	Proof-of-concept Study Evaluating Subcutaneous Amlitelimab in Adult Participants With Moderate to Severe Hidradenitis Suppurativa
NCT06555328	PHASE2	TERMINATED	Evaluate Safety and Pharmacokinetics of INF904 in Subjects With Moderate to Severe Chronic Spontaneous Urticaria or Hidradenitis Suppurativa
NCT05989945	Not specified	ACTIVE_NOT_RECRUITING	HIDRAdenitis Suppurativa and HEART Disease
NCT01352078	Not specified	COMPLETED	Wound Etiology and Healing Study
NCT02904408	Not specified	UNKNOWN	Group Psychotherapy for Patients With Hidradenitis Suppurativa: Effects in Quality of Life
NCT02999698	Not specified	UNKNOWN	Patients With Hidradenitis vs Patients With Psoriasis: Psychological Impact
NCT03040804	Not specified	TERMINATED	Low Dose Radiotherapy for Advanced Hidradenitis Suppurativa
NCT04449354	Not specified	COMPLETED	HidraWear Study for Hidradenitis Suppurativa Wounds

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
ANIFROLUMAB	4	1
HYDROXYCHLOROQUINE	4	1
AMLITELIMAB	3	1