IgA pemphigus
diseaseOn this page
Summary
IgA pemphigus (MONDO:0034127) is a disease and 1 clinical trial. 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): 19
- Clinical trials: 1
Clinical features
Signs & symptoms
Clinical features (HPO)
19 HPO clinical features (Orphanet curated; top 19 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0008066 | Abnormal blistering of the skin | Very frequent (80-99%) |
| HP:0031234 | Neutrophilic infiltration of the skin | Very frequent (80-99%) |
| HP:0200037 | Skin vesicle | Very frequent (80-99%) |
| HP:0000989 | Pruritus | Frequent (30-79%) |
| HP:0011354 | Generalized abnormality of skin | Frequent (30-79%) |
| HP:0012531 | Pain | Frequent (30-79%) |
| HP:0030057 | Autoimmune antibody positivity | Frequent (30-79%) |
| HP:0031539 | Linear IgA deposits along the epidermal basement membrane zone | Frequent (30-79%) |
| HP:0100792 | Acantholysis | Frequent (30-79%) |
| HP:0200035 | Skin plaque | Frequent (30-79%) |
| HP:0200039 | Pustule | Frequent (30-79%) |
| HP:0200041 | Skin erosion | Frequent (30-79%) |
| HP:0200097 | Oral mucosal blisters | Frequent (30-79%) |
| HP:0001880 | Eosinophilia | Occasional (5-29%) |
| HP:0003261 | Increased circulating IgA level | Occasional (5-29%) |
| HP:0025528 | Annular cutaneous lesion | Occasional (5-29%) |
| HP:0031292 | Cutaneous abscess | Occasional (5-29%) |
| HP:0032335 | Monoclonal elevation of circulating IgA | Occasional (5-29%) |
| HP:0100279 | Ulcerative colitis | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | IgA pemphigus |
| Mondo ID | MONDO:0034127 |
| Orphanet | 555905 |
| DOID | DOID:0080851 |
| UMLS | C1274167 |
| MedGen | 697519 |
| GARD | 0022242 |
| 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 › IgA pemphigus
Related subtypes (10): pemphigus, subcorneal pustular dermatosis, dermatitis herpetiformis, anti-p200 pemphigoid, mucous membrane pemphigoid, acquired epidermolysis bullosa, linear IgA Dermatosis, paraneoplastic pemphigus, bullous pemphigoid, 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: 1.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT01952275 | Not specified | UNKNOWN | Observational Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.