epidermolysis bullosa simplex 5A, Ogna type
Findings
No curated finding names epidermolysis bullosa simplex 5A, Ogna type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering.
Definition from the Mondo Disease Ontology (MONDO:0007555), read 2026-09-29. CC BY 4.0.
Features
10 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal blistering of the skinHPOHP:0008066
- Frequent (30% to 79% of cases)
- Acral blisteringHPOHP:0031045
- Frequent (30% to 79% of cases)
- Fragile skinHPOHP:0001030
- Frequent (30% to 79% of cases)
- Hypermelanotic maculeHPOHP:0001034
- Frequent (30% to 79% of cases)
- Hypopigmented maculeHPOHP:0020073
- Frequent (30% to 79% of cases)
- Palmoplantar blisteringHPOHP:0007446
- Frequent (30% to 79% of cases)
- Palmoplantar keratodermaHPOHP:0000982
- Frequent (30% to 79% of cases)
- Skin erosionHPOHP:0200041
- Frequent (30% to 79% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Occasional (5% to 29% of cases)
- Hypoplastic dermoepidermal hemidesmosomesHPOHP:0020117
Reported absent (3)
- Abnormal heart morphologyHPOHP:0001627
- Abnormality of the abdominal organsHPOHP:0002012
- Abnormality of the eyeHPOHP:0000478
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PLECHGNC:9069
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: epidermolysis bullosa simplex 5A, Ogna type
- Also called
- EBSOGepidermolysis bullosa simplex, Ogna type