Paraneoplastic pemphigus

Summary

Paraneoplastic pemphigus (MONDO:0018974) is a disease. 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

• Prevalence: Unknown (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 7

Clinical features

Signs & symptoms

Clinical features (HPO)

7 HPO clinical features (Orphanet curated; top 7 by frequency):

HPO ID	Term	Frequency
HP:0000155	Oral ulcer	Very frequent (80-99%)
HP:0008066	Abnormal blistering of the skin	Very frequent (80-99%)
HP:0200041	Skin erosion	Very frequent (80-99%)
HP:0200097	Oral mucosal blisters	Very frequent (80-99%)
HP:0012191	B-cell lymphoma	Frequent (30-79%)
HP:0100242	Sarcoma	Frequent (30-79%)
HP:0100522	Thymoma	Frequent (30-79%)

Identifiers

Disease identifiers

Field	Value
Canonical name	paraneoplastic pemphigus
Mondo ID	MONDO:0018974
EFO	EFO:0008602
Orphanet	63455
DOID	DOID:0080852
ICD-10-CM	L10.81
ICD-11	104197957
UMLS	C1112570
MedGen	798302
GARD	0018858
MedDRA	10057056
Is cancer (heuristic)	no

Disease family

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

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

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.