Pemphigus erythematosus

Summary

Pemphigus erythematosus (MONDO:0019323) is a disease. A subtype of pemphigus — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Phenotypes (HPO): 14

Clinical features

Signs & symptoms

Clinical features (HPO)

14 HPO clinical features (Orphanet curated; top 14 by frequency):

HPO ID	Term	Frequency
HP:0002960	Autoimmunity	Very frequent (80-99%)
HP:0011355	Localized skin lesion	Very frequent (80-99%)
HP:0025300	Malar rash	Very frequent (80-99%)
HP:0025474	Erythematous plaque	Very frequent (80-99%)
HP:0100792	Acantholysis	Very frequent (80-99%)
HP:0003493	Antinuclear antibody positivity	Frequent (30-79%)
HP:0008066	Abnormal blistering of the skin	Frequent (30-79%)
HP:0031540	Linear IgG deposits along the epidermal basement membrane zone	Frequent (30-79%)
HP:0000155	Oral ulcer	Occasional (5-29%)
HP:0001053	Hypopigmented skin patches	Occasional (5-29%)
HP:0002725	Systemic lupus erythematosus	Occasional (5-29%)
HP:0007510	Focal dermal aplasia/hypoplasia	Occasional (5-29%)
HP:0030208	Acetylcholine receptor antibody positivity	Occasional (5-29%)
HP:0200041	Skin erosion	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	pemphigus erythematosus
Mondo ID	MONDO:0019323
EFO	EFO:0008603
Orphanet	79480
ICD-10-CM	L10.4
ICD-11	399813106
SNOMED CT	36739006
UMLS	C0263312
MedGen	537812
GARD	0019022
MedDRA	10058917
Is cancer (heuristic)	no

Also known as: seborrheic pemphigus · Senear-Usher syndrome

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 erythematosus

Related subtypes (5): pemphigoid gestationis, Hailey-Hailey disease, pemphigus vulgaris, herpetiform pemphigus, pemphigus foliaceus

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

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: 0.