Pemphigus

Summary

Pemphigus (MONDO:0006594) is a disease (an umbrella term covering 6 Mondo subtypes) with 3 GWAS associations across 4 studies and 27 clinical trials. Top therapeutic interventions include rituximab, ofatumumab, and tirabrutinib. A subtype of autoimmune bullous skin disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 6 Mondo subtypes
• GWAS associations: 3
• Clinical trials: 27

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	pemphigus
Mondo ID	MONDO:0006594
EFO	EFO:1000749
MeSH	D010392
DOID	DOID:9182
ICD-10-CM	L10
ICD-11	191659986
NCIT	C34909
SNOMED CT	65172003
UMLS	C0030807
MedGen	45369
GARD	0007352
Is cancer (heuristic)	no

Data availability: 3 GWAS associations (4 studies) · 6 cell lines.

Disease family

An umbrella term covering 6 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › integumentary system disorder › skin disorder › dermatitis › autoimmune bullous skin disease › pemphigus

Related subtypes (10): subcorneal pustular dermatosis, dermatitis herpetiformis, anti-p200 pemphigoid, mucous membrane pemphigoid, acquired epidermolysis bullosa, linear IgA Dermatosis, paraneoplastic pemphigus, bullous pemphigoid, IgA pemphigus, pemphigoid

Subtypes (6): pemphigoid gestationis, Hailey-Hailey disease, pemphigus vulgaris, herpetiform pemphigus, pemphigus erythematosus, pemphigus foliaceus

Genetics & variants

GWAS landscape

3 GWAS associations across 4 studies. Top hits map to 0 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs70993900	1e-43	HLA-DRB1 - HLA-DQA1	?	10.92
rs9469220	7e-22	HLA-DQB1 - MTCO3P1	G	3.2
rs117887250	3e-08	PPM1AP1 - RPL32P19	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90482337	Verma A	2024	492	450,670	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST008069	Zhang S	2018	350	0	Subtype-Specific Inherited Predisposition to Pemphigus in Chinese Population.
GCST90651615	Liu TY	2025	188	218,583	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90436597	Zhou W	2018	75	402,672	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)	3
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intergenic_variant	3

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs70993900	6	32618381	AC>A,ACC	0.09	intergenic_variant	HLA-DRB1 - HLA-DQA1	1e-43	Tier 4: intronic/intergenic
rs9469220	6	32690533	G>A,T	0.33	intergenic_variant	HLA-DQB1 - MTCO3P1	7e-22	Tier 4: intronic/intergenic
rs117887250	8	15842208	C>G	0.05	intergenic_variant	PPM1AP1 - RPL32P19	3e-08	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, 5 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Dexamethasone	Approved (phase 4)
Prednisone	Approved (phase 4)
Rituximab	Approved (phase 4)
Acetaminophen	Phase 3 (in late-stage trials)
Cetirizine	Phase 3 (in late-stage trials)
Ofatumumab	Phase 3 (in late-stage trials)
Prednisolone	Phase 3 (in late-stage trials)
Rilzabrutinib	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Azathioprine, Filgrastim, Human Immunoglobulin G, Infliximab.

Clinical trials & evidence

Clinical trials

Clinical trials: 27.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	11
PHASE3	5
PHASE2	4
PHASE2/PHASE3	3
PHASE4	1
PHASE1/PHASE2	1
PHASE1	1
EARLY_PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05898308	PHASE4	RECRUITING	Comparison of a Personalized Maintenance Therapy With the Standard Treatment in Pemphigus
NCT06454357	PHASE2/PHASE3	RECRUITING	A Clinical Study of B007 in the Treatment of Pemphigus.
NCT06696716	PHASE3	RECRUITING	ONO-4059 Study in Patients With Steroid-resistant Pemphigus
NCT00127764	PHASE2/PHASE3	COMPLETED	European Trial of Adjuvant Oral Glucocorticoid Pulse Therapy in Pemphigus
NCT00213512	PHASE2/PHASE3	COMPLETED	Effect of Anti CD20 in Pemphigus Desease
NCT01299857	PHASE3	COMPLETED	Long-term Clinical and Biological Evaluation of Patients With Severe Forms of Pemphigus Treated by Rituximab
NCT01974518	PHASE3	UNKNOWN	Comparative Study of Rituximab Versus Combination of Rituximab and Intravenous Cyclophosphamide in Severe Pemphigus
NCT02613910	PHASE3	TERMINATED	Long-Term Extension Study of Ofatumumab in Subjects With Pemphigus Vulgaris
NCT03762265	PHASE3	TERMINATED	A Study of PRN1008 in Patients With Pemphigus
NCT04400994	PHASE2	ACTIVE_NOT_RECRUITING	IVIG With Rituximab vs Rituximab as First Line Treatment of Pemphigus
NCT00010413	PHASE2	COMPLETED	Phase II Study of High-Dose Cyclophosphamide in Patients With Refractory Pemphigus
NCT00283712	PHASE2	COMPLETED	Use of Infliximab for the Treatment of Pemphigus Vulgaris
NCT00656656	PHASE2	COMPLETED	Immunoadsorption, Dexamethasone Pulse Therapy and Rituximab for Pemphigus
NCT03075904	PHASE1/PHASE2	TERMINATED	A Safety and Dose-Finding Study of SYNT001 in Subjects With Pemphigus (Vulgaris or Foliaceus)
NCT00278642	PHASE1	TERMINATED	Hematopoietic Stem Cell Support in Patients With Autoimmune Bullous Skin Disorders
NCT01313923	EARLY_PHASE1	TERMINATED	Evaluating Sirolimus to Treat Autoimmune Blistering Dermatosis Pemphigus
NCT05954416	Not specified	RECRUITING	FARD (RaDiCo Cohort) (RaDiCo-FARD)
NCT06904040	Not specified	NOT_YET_RECRUITING	A Single-center Study of CM313 in Patients With Pemphigus
NCT00960713	Not specified	COMPLETED	The RITAI Cohort: An Observational Study on Rituximab Off-label Use for Auto-immune Disorders
NCT01338103	Not specified	UNKNOWN	Treatment of Pemphigus Patients With Rituximab 1000mgX2 and Assessment of Immune Status Via Cylex
NCT01559155	Not specified	TERMINATED	Role of Proteasomes in a Dermatological Autoimmune Disease: Bullous Pemphigoid
NCT02237313	Not specified	COMPLETED	Identification of Vulnerability Factors in the Course of Pemphigus Patients
NCT02365675	Not specified	UNKNOWN	Wound Dressings for Pemphigus and Pemphigoid
NCT05284929	Not specified	UNKNOWN	Human Leukocyte Antigen Class II (DRB1 and DQB1) Alleles and Haplotypes Frequencies in Patients With Pemphigus Vulgaris Among the Russian Population
NCT05534776	Not specified	UNKNOWN	Validation of 5-Point Investigator Global Assessments for Pemphigus
NCT06285435	Not specified	UNKNOWN	Coagulation Activation in Patients With Pemphigus
NCT06654817	Not specified	COMPLETED	Efficacy and Safety Evaluation of Anti-CD20 Monoclonal Antibody Combined with Azathioprine and Corticosteroids in the Treatment of Pemphigus Vulgaris

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
RITUXIMAB	4	7
OFATUMUMAB	4	1
TIRABRUTINIB	4	1
POWDERED CELLULOSE	3	1
RILZABRUTINIB	3	1
LUMROTATUG	2	1
ORILANOLIMAB	2	1
CHEMBL3809874	0	1