epidermolysis bullosa simplex 1A, generalized severe
Findings
No curated finding names epidermolysis bullosa simplex 1A, generalized severe 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 the presence of generalized vesicles and small blisters in grouped or arcuate configuration.
Definition from the Mondo Disease Ontology (MONDO:0007550), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
47 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
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Hoarse cryHPOHP:0001615
- 1 of 1 reported patient
- Hoarse voiceHPOHP:0001609
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Nail dystrophyHPOHP:0008404
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Oral mucosal blistersHPOHP:0200097
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Stratum basale cleavageHPOHP:0034193
- 7 of 7 reported patients
Show the remaining 35
- AnemiaHPOHP:0001903
- Frequent (30% to 79% of cases)
- Aplasia cutis congenitaHPOHP:0001057
- Frequent (30% to 79% of cases)
- Aplasia cutis congenita on trunk or limbsHPOHP:0007589
- Frequent (30% to 79% of cases)
- Atrophic scarsHPOHP:0001075
- Frequent (30% to 79% of cases)
- Enamel hypoplasiaHPOHP:0006297
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPOHP:0011968
- Frequent (30% to 79% of cases)
Genes
2 genes
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.
- KRT14HGNC:6416
- Definitive · Ambry Genetics · Autosomal dominant · 2017
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
- KRT5HGNC:6442
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: epidermolysis bullosa simplex 1A, generalized severe
- Also called
- EBS, generalised severeEBS, generalized severeEBSDMgeneralised severe epidermolysis bullosa simplex