Rosacea

Summary

Rosacea (MONDO:0006604) is a disease with 18 GWAS associations across 17 studies and 154 clinical trials. Top therapeutic interventions include brimonidine, oxymetazoline, and doxycycline anhydrous. A subtype of skin disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 18
• Clinical trials: 154

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	rosacea
Mondo ID	MONDO:0006604
EFO	EFO:1000760
MeSH	D012393
DOID	DOID:8881
ICD-10-CM	L71
ICD-11	134161404
NCIT	C97136
SNOMED CT	398909004
UMLS	C0035854
MedGen	11269
Is cancer (heuristic)	no

Also known as: acne rosacea

Data availability: 18 GWAS associations (17 studies).

Disease family

This is a subtype of skin disorder. 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 body system or component › integumentary system disorder › skin disorder › rosacea

Related subtypes (71): dermatitis, cutaneous mucinosis, skin neoplasm, pyoderma, chronic ulcer of skin, systemic sclerosis, sunburn, severe cutaneous adverse reaction, paronychia, Achenbach syndrome, erythema multiforme, erythematosquamous dermatosis, exanthem, facial dermatosis, hand dermatosis, keratosis, leg dermatosis, lichen disease, lipodystrophy, mongolian spot, reactive cutaneous fibrous lesion, scalp dermatosis, sebaceous gland disorder, skin atrophy, skin sarcoidosis, sweat gland disorder, vesiculobullous skin disease, hyperglobulinemic purpura, ainhum, cheilitis glandularis, erythema palmare hereditarium, multiple benign circumferential skin creases on limbs, actinic prurigo, congenital lethal erythroderma, Parana hard-skin syndrome, Bazex-Dupre-Christol syndrome, nephrogenic systemic fibrosis, erosive pustular dermatosis of the scalp, pseudoxanthoma elasticum-like papillary dermal elastolysis, toxic dermatosis, oral erosive lichen, chronic actinic dermatitis, Jessner lymphocytic infiltration of the skin, acquired kinky hair syndrome, primary cutaneous plasmacytosis, cutaneous pseudolymphoma, corticosteroid-sensitive aseptic abscess syndrome, interstitial granulomatous dermatitis with arthritis, epidermal disease, skin pigmentation disorder, skin vascular disease, Wells syndrome, solar urticaria, pellagra, hereditary epidermal appendage anomaly, keratosis pilaris, dermis disorder, aquagenic pruritus, Boudhina Yedes Khiari syndrome, non-neoplastic nevus, cutaneous sclerosis, pityriasis rotunda, hematohidrosis, skin disorder caused by infection, livedoid vasculopathy, prurigo nodularis, granuloma faciale, sclerema neonatorum, hereditary skin disorder, hand-foot syndrome, Nicolau syndrome

Subtypes (1): rhinophyma

Genetics & variants

GWAS landscape

18 GWAS associations across 17 studies. Top hits map to 8 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs548090778	1e-27	HLA-DRB1 - HLA-DQA1	C	0.43
rs6866614	4e-24	IRF1, CARINH	A	0.12
rs12203592	7e-20	IRF4	C	0.15
chr16:90024970	1e-18		C	0.18
rs1805007	3e-18	MC1R	C	0.18
rs5743618	6e-17	TLR1	C	0.12
chr7:50327367	1e-16		T	0.1
rs10263046	1e-14	SPMIP7 - IKZF1	G	0.1
rs12898729	3e-14	HERC2	G	0.12
rs16891982	4e-13	SLC45A2	C	0.21
rs10806180	3e-12	LINC01621 - ELOVL4	C	0.1
chr2:28627629	1e-11		C	0.08
rs60148069	2e-07	HUNK	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90476178	Verma A	2024	14,815	427,372	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90473962	UK Biobank Whole-Genome Sequencing Consortium	2025	6,008	452,432	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90080360	Backman JD	2021	4,002	378,283	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084346	Backman JD	2021	4,002	378,283	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90103419	Fitzgerald T	2022	2,109	168,648	CNest: A novel copy number association discovery method uncovers 862 new associations from 200,629 whole-exome sequence datasets in the UK Biobank.
GCST90478792	Verma A	2024	1,070	58,225	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90077985	Backman JD	2021	984	330,770	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90081971	Backman JD	2021	984	330,770	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90077986	Backman JD	2021	754	328,298	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90081972	Backman JD	2021	754	328,298	Exome sequencing and analysis of 454,787 UK Biobank participants.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	3
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	10

MAF distribution

Bucket	Variants
common (>=0.05)	13
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intron_variant	4
intergenic_variant	3
unknown	3
missense_variant	3

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs548090778	6	32603785	C>A	0.094	intergenic_variant	HLA-DRB1 - HLA-DQA1	1e-27	Tier 4: intronic/intergenic
rs6866614	5	132451445	A>G,T	0.357	intron_variant	IRF1, CARINH	4e-24	Tier 4: intronic/intergenic
rs12203592	6	396321	C>G,T	0.16	intron_variant	IRF4	7e-20	Tier 4: intronic/intergenic
chr16:90024970				0.09			1e-18	Tier 4: intronic/intergenic
rs1805007	16	89919709	C>A,G,T	0.064	missense_variant	MC1R	3e-18	Tier 1: coding
rs5743618	4	38797027	C>A,G	0.434	missense_variant	TLR1	6e-17	Tier 1: coding
chr7:50327367				0.355			1e-16	Tier 4: intronic/intergenic
rs10263046	7	50270019	G>T	0.282	intergenic_variant	SPMIP7 - IKZF1	1e-14	Tier 4: intronic/intergenic
rs12898729	15	28147115	G>A,C	0.329	intron_variant	HERC2	3e-14	Tier 4: intronic/intergenic
rs16891982	5	33951588	C>A,G	0.233	missense_variant	SLC45A2	4e-13	Tier 1: coding
rs10806180	6	79908806	C>T	0.208	intergenic_variant	LINC01621 - ELOVL4	3e-12	Tier 4: intronic/intergenic
chr2:28627629				0.442			1e-11	Tier 4: intronic/intergenic
rs60148069	21	31960277	G>T	0.05	intron_variant	HUNK	2e-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

3 approved, 6 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Azelaic Acid	Approved (phase 4)
Ivermectin	Approved (phase 4)
Metronidazole	Approved (phase 4)
Brimonidine	Phase 3 (in late-stage trials)
Isotretinoin	Phase 3 (in late-stage trials)
Minocycline	Phase 3 (in late-stage trials)
Omiganan	Phase 3 (in late-stage trials)
Oxymetazoline	Phase 3 (in late-stage trials)
Tretinoin	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Amitriptyline, Apremilast, Clindamycin Phosphate, Dapsone, Imipramine, Incobotulinumtoxina, Lotilaner, PAC-14028, Rifaximin, Roflumilast, Sodium Chloride.

Clinical trials & evidence

Clinical trials

Clinical trials: 154.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	60
PHASE2	30
PHASE3	24
PHASE4	19
PHASE1	14
EARLY_PHASE1	3
PHASE2/PHASE3	2
PHASE1/PHASE2	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00348335	PHASE4	COMPLETED	Efficacy of Topical Cyclosporin for Ocular Rosacea
NCT00436527	PHASE4	COMPLETED	Assess the Ability of MetroGel 1% to Deliver Moisture to Facial Skin After a Single Application
NCT00495313	PHASE4	COMPLETED	Safety and Efficacy Study to Compare Two Rosacea Treatment Regimens
NCT00892281	PHASE4	COMPLETED	ORCA - Oracea® for Rosacea: A Community-based Assessment
NCT01308619	PHASE4	COMPLETED	Evaluation of Rosacea-related Inflammatory Biochemical Markers in Adult Skin When Treated With Oracea® vs Placebo
NCT01426269	PHASE4	COMPLETED	Evaluation of Relapse, Efficacy and Safety of Long-term Treatment With Oracea® vs Placebo
NCT02075671	PHASE4	COMPLETED	Photodynamic Therapy for Papulopustular Rosacea
NCT02147691	PHASE4	COMPLETED	Finacea 15% and Brimonidine 0.33% Gel in the Treatment of Rosacea - A Pilot Study
NCT02249065	PHASE4	COMPLETED	Mirvaso in Use Study
NCT02616250	PHASE4	COMPLETED	MirvasO Soolantra Association In the Treatment of Moderate to Severe rosaCea.
NCT03048058	PHASE4	COMPLETED	Internet Surveys and Their Impact on Adherence for Rosacea
NCT03053700	PHASE4	WITHDRAWN	Intense Pulsed Light as an Adjunctive to Bromonidine for the Treatment of Rosacea
NCT03075891	PHASE4	COMPLETED	Oracea Soolantra Association in Participants With Severe Rosacea
NCT03380390	PHASE4	COMPLETED	Safety and Tolerability of Oxymetazoline and Energy-Based Therapy in Participants With Rosacea
NCT04555525	PHASE4	COMPLETED	A Pilot Study on the Use of Seysara for Rosacea
NCT05014906	PHASE4	COMPLETED	Efficacy of Oral Minocycline (Solodyn) and Oral Minocycline (Solodyn) Plus Azelaic Acid (Finacea) for Acne Rosacea
NCT06307288	PHASE4	UNKNOWN	Efficacy and Safety of Tranilast Combined With Minocycline in the Treatment of Rosacea
NCT06873087	PHASE4	COMPLETED	Changes in PACAP, CGRP, and VIP Levels in Rosacea Patients on Systemic Isotretinoin and Their Association with Erythema
NCT07431476	PHASE4	COMPLETED	Brimonidine 0.33% for Rosacea-Related Facial Erythema
NCT00041977	PHASE3	COMPLETED	Determine the Effect of Administering Periostat(R) Twice Daily on Patients With Acne Rosacea
NCT00126399	PHASE3	COMPLETED	A Clinical Trial to Determine the Effects of 40 Mg Doxycycline Versus a Placebo Control for the Treatment of Rosacea
NCT00823901	PHASE2/PHASE3	COMPLETED	Safety and Efficacy Study of Clindamycin Phosphate 1.2% and Tretinoin 0.025% Gel to Treat Rosacea
NCT01125930	PHASE3	TERMINATED	Atralin Gel for the Treatment of Rosacea
NCT01318733	PHASE3	COMPLETED	Study of CD07805/47 Topical Gel in Subjects With Facial Erythema Associated With Rosacea
NCT01355458	PHASE3	COMPLETED	Phase 3 Efficacy and Safety Study of CD07805/47 Topical Gel in Subjects With Facial Erythema Associated With Rosacea
NCT01355471	PHASE3	COMPLETED	Phase 3 Efficacy and Safety Study of CD07805/47 Topical Gel in Subjects With Facial Erythema Associated With Rosacea
NCT01659853	PHASE3	COMPLETED	Efficacy and Safety Study Comparing CD07805/47 Gel 0.5% to Azelaic Acid Gel 15% in Subjects With Erythema of Rosacea
NCT01789775	PHASE3	COMPLETED	Phase 3 Efficacy and Safety Study of CD07805/47 Topical Gel in Subjects With Facial Erythema of Rosacea
NCT01885000	PHASE3	COMPLETED	Patient-Reported Outcome Of Facial Erythema (PROOF)
NCT02036229	PHASE3	UNKNOWN	Topical 0.5% Ivermectin Cream for Treatment of Demodicidosis
NCT02095158	PHASE3	COMPLETED	A Long-Term Safety and Efficacy Study AGN-19920 in Patients With Persistent Erythema Associated With Rosacea
NCT02120924	PHASE3	COMPLETED	A Study to Evaluate the Safety and Clinical Study of Azelaic Acid Gel 15% in Patients With Moderate Facial Rosacea
NCT02131636	PHASE3	COMPLETED	Efficacy and Safety of AGN-199201 in Patients With Persistent Erythema Associated With Rosacea
NCT02132117	PHASE3	COMPLETED	Safety and Efficacy of Oxymetazoline HCl Cream 1.0% in Patients With Persistent Erythema Associated With Rosacea
NCT02289352	PHASE3	COMPLETED	Randomized, Double-blind, Multiple-site, Placebo-controlled, Parallel-design Study in Patients With Moderate to Severe Facial Erythema Associated With Rosacea
NCT02385240	PHASE3	COMPLETED	Comparative Safety and Efficacy of Two Rosacea Products in the Treatment of Facial Erythema of Rosacea
NCT02547441	PHASE3	COMPLETED	Study to Evaluate the Safety and Efficacy of a Once-Daily CLS001 Topical Gel Versus Vehicle
NCT02576847	PHASE3	COMPLETED	Study to Evaluate the Long-term Safety of a Once-Daily Omiganan Topical Gel
NCT02576860	PHASE3	COMPLETED	Study to Evaluate the Safety and Efficacy of a Once-Daily CLS001 Topical Gel Versus Vehicle
NCT02795117	PHASE3	COMPLETED	Comparative Safety and Efficacy of Two Treatments in the Treatment of Inflammatory Lesions of Rosacea

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
BRIMONIDINE	4	20
OXYMETAZOLINE	4	18
DOXYCYCLINE ANHYDROUS	4	12
AZELAIC ACID	4	6
IVERMECTIN	4	5
AMITRIPTYLINE	4	3
CLINDAMYCIN	4	3
MINOCYCLINE	4	3
TIMOLOL	4	3
IMIPRAMINE	4	2
CYCLOSPORINE	4	1
INCOBOTULINUMTOXINA	4	1
ISOTRETINOIN	4	1
LAROPIPRANT	4	1
METRONIDAZOLE	4	1
RIFAXIMIN	4	1
ROFLUMILAST	4	1
SARECYCLINE	4	1
SUMATRIPTAN SUCCINATE	4	1
ZINC SULFATE	4	1
OMIGANAN	3	1
POWDERED CELLULOSE	3	1
TRANILAST	3	1
BMX-010	2	1
CHEMBL263291	0	5
CHEMBL4082099	0	5
CHEMBL4788951	0	5
CHEMBL406352	0	1
CHEMBL1081780	0	1
CHEMBL1744069	0	1