Pemphigus foliaceus

disease

On this page

Also known as PF

Summary

Pemphigus foliaceus (MONDO:0019324) is a disease with 2 GWAS associations across 2 studies and 7 clinical trials. Top therapeutic interventions include efgartigimod alfa and orilanolimab. A subtype of pemphigus — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

Prevalence: 1-9 / 100 000 (Germany) [Orphanet-validated]
GWAS associations: 2
Phenotypes (HPO): 20
Clinical trials: 7

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-9 / 100 000	1.001	Germany	Validated

Signs & symptoms

Clinical features (HPO)

20 HPO clinical features (Orphanet curated; top 20 by frequency):

HPO ID	Term	Frequency
HP:0002960	Autoimmunity	Very frequent (80-99%)
HP:0100792	Acantholysis	Very frequent (80-99%)
HP:0000989	Pruritus	Frequent (30-79%)
HP:0001965	Abnormality of the scalp	Frequent (30-79%)
HP:0007473	Crusting erythematous dermatitis	Frequent (30-79%)
HP:0008066	Abnormal blistering of the skin	Frequent (30-79%)
HP:0010783	Erythema	Frequent (30-79%)
HP:0025474	Erythematous plaque	Frequent (30-79%)
HP:0040189	Scaling skin	Frequent (30-79%)
HP:0200041	Skin erosion	Frequent (30-79%)
HP:0000155	Oral ulcer	Occasional (5-29%)
HP:0001019	Erythroderma	Occasional (5-29%)
HP:0011830	Abnormal oral mucosa morphology	Occasional (5-29%)
HP:0200037	Skin vesicle	Occasional (5-29%)
HP:0003765	Psoriasiform dermatitis	Very rare (<1-4%)
HP:0004377	Hematological neoplasm	Very rare (<1-4%)
HP:0008069	Neoplasm of the skin	Very rare (<1-4%)
HP:0025527	Serpiginous cutaneous lesion	Very rare (<1-4%)
HP:0025528	Annular cutaneous lesion	Very rare (<1-4%)
HP:0200039	Pustule	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	pemphigus foliaceus
Mondo ID	MONDO:0019324
EFO	EFO:0008601
Orphanet	79481
DOID	DOID:0080850
ICD-11	24246260
SNOMED CT	35154004
UMLS	C0263313
MedGen	75513
GARD	0007354
MedDRA	10057069
Is cancer (heuristic)	no

Also known as: PF

Data availability: 2 GWAS associations (2 studies) · 6 cell lines.

Disease family

This is a subtype of pemphigus. 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 › dermatitis › autoimmune bullous skin disease › pemphigus › pemphigus foliaceus

Subtypes (1): pemphigus and fogo selvagem

Genetics & variants

GWAS landscape

2 GWAS associations across 2 studies. Top hits map to 1 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs2178077	2e-09	RAN - Y_RNA	A	3.03
rs3888722	7e-09	HLA-F-AS1	?	2.74

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST008067	Zhang S	2018	72	0	Subtype-Specific Inherited Predisposition to Pemphigus in Chinese Population.
GCST006520	Sun Y	2018	65	0	Investigation of the Predisposing Factor of Pemphigus and its clinical subtype through a Genome-wide association and next generation sequence analysis.

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	2

MAF distribution

Bucket	Variants
common (>=0.05)	2
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intergenic_variant	1
intron_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs2178077	12	130895928	G>A,T	0.05	intergenic_variant	RAN - Y_RNA	2e-09	Tier 4: intronic/intergenic
rs3888722	6	29771223	C>A,G	0.05	intron_variant	HLA-F-AS1	7e-09	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

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 7.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE3	2
Not specified	2
PHASE1/PHASE2	1
PHASE2	1
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04598451	PHASE3	COMPLETED	A Study to Assess the Efficacy and Safety of a Subcutaneous Formulation of Efgartigimod PH20 SC in Adults With Pemphigus (Vulgaris or Foliaceus)
NCT04598477	PHASE3	TERMINATED	A Study to Assess the Long-term Safety and Efficacy of a Subcutaneous Formulation of Efgartigimod PH20 SC in Adults With Pemphigus (Vulgaris or Foliaceus)
NCT03075904	PHASE1/PHASE2	TERMINATED	A Safety and Dose-Finding Study of SYNT001 in Subjects With Pemphigus (Vulgaris or Foliaceus)
NCT03334058	PHASE2	COMPLETED	A Study to Evaluate the Safety, PD, PK and Efficacy of ARGX-113 in Patients With Pemphigus
NCT03239470	PHASE1	TERMINATED	Polyclonal Regulatory T Cells (PolyTregs) for Pemphigus
NCT02753777	Not specified	RECRUITING	Autoimmune Blistering Diseases Study
NCT04117529	Not specified	UNKNOWN	Phenotypic and Functional Characterisation of Human B-cell Response in Pemphigus

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
EFGARTIGIMOD ALFA	4	3
ORILANOLIMAB	2	1
CHEMBL15720	0	2

Drugs: Efgartigimod Alfa